A characteristic symptom complex.
An aberration in which an extra chromosome or a chromosomal segment is made.
A syndrome characterized by multiple abnormalities, MENTAL RETARDATION, and movement disorders. Present usually are skull and other abnormalities, frequent infantile spasms (SPASMS, INFANTILE); easily provoked and prolonged paroxysms of laughter (hence "happy"); jerky puppetlike movements (hence "puppet"); continuous tongue protrusion; motor retardation; ATAXIA; MUSCLE HYPOTONIA; and a peculiar facies. It is associated with maternal deletions of chromosome 15q11-13 and other genetic abnormalities. (From Am J Med Genet 1998 Dec 4;80(4):385-90; Hum Mol Genet 1999 Jan;8(1):129-35)
A family of DNA repair enzymes that recognize damaged nucleotide bases and remove them by hydrolyzing the N-glycosidic bond that attaches them to the sugar backbone of the DNA molecule. The process called BASE EXCISION REPAIR can be completed by a DNA-(APURINIC OR APYRIMIDINIC SITE) LYASE which excises the remaining RIBOSE sugar from the DNA.
A DNA repair enzyme that is an N-glycosyl hydrolase with specificity for DNA-containing ring-opened N(7)-methylguanine residues.
Graphs representing sets of measurable, non-covalent physical contacts with specific PROTEINS in living organisms or in cells.
A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)
A cluster of metabolic risk factors for CARDIOVASCULAR DISEASES and TYPE 2 DIABETES MELLITUS. The major components of metabolic syndrome X include excess ABDOMINAL FAT; atherogenic DYSLIPIDEMIA; HYPERTENSION; HYPERGLYCEMIA; INSULIN RESISTANCE; a proinflammatory state; and a prothrombotic (THROMBOSIS) state. (from AHA/NHLBI/ADA Conference Proceedings, Circulation 2004; 109:551-556)
The entire nerve apparatus, composed of a central part, the brain and spinal cord, and a peripheral part, the cranial and spinal nerves, autonomic ganglia, and plexuses. (Stedman, 26th ed)
A diverse class of enzymes that interact with UBIQUITIN-CONJUGATING ENZYMES and ubiquitination-specific protein substrates. Each member of this enzyme group has its own distinct specificity for a substrate and ubiquitin-conjugating enzyme. Ubiquitin-protein ligases exist as both monomeric proteins multiprotein complexes.
A class of enzymes involved in the hydrolysis of the N-glycosidic bond of nitrogen-linked sugars.
A condition characterized by severe PROTEINURIA, greater than 3.5 g/day in an average adult. The substantial loss of protein in the urine results in complications such as HYPOPROTEINEMIA; generalized EDEMA; HYPERTENSION; and HYPERLIPIDEMIAS. Diseases associated with nephrotic syndrome generally cause chronic kidney dysfunction.
Chronic inflammatory and autoimmune disease in which the salivary and lacrimal glands undergo progressive destruction by lymphocytes and plasma cells resulting in decreased production of saliva and tears. The primary form, often called sicca syndrome, involves both KERATOCONJUNCTIVITIS SICCA and XEROSTOMIA. The secondary form includes, in addition, the presence of a connective tissue disease, usually rheumatoid arthritis.
Proteins that originate from insect species belonging to the genus DROSOPHILA. The proteins from the most intensely studied species of Drosophila, DROSOPHILA MELANOGASTER, are the subject of much interest in the area of MORPHOGENESIS and development.
A nucleoside consisting of the base guanine and the sugar deoxyribose.
A syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X (or 45,XO). Patients generally are of short stature with undifferentiated GONADS (streak gonads), SEXUAL INFANTILISM, HYPOGONADISM, webbing of the neck, cubitus valgus, elevated GONADOTROPINS, decreased ESTRADIOL level in blood, and CONGENITAL HEART DEFECTS. NOONAN SYNDROME (also called Pseudo-Turner Syndrome and Male Turner Syndrome) resembles this disorder; however, it occurs in males and females with a normal karyotype and is inherited as an autosomal dominant.
A DNA repair enzyme that catalyses the excision of ribose residues at apurinic and apyrimidinic DNA sites that can result from the action of DNA GLYCOSYLASES. The enzyme catalyzes a beta-elimination reaction in which the C-O-P bond 3' to the apurinic or apyrimidinic site in DNA is broken, leaving a 3'-terminal unsaturated sugar and a product with a terminal 5'-phosphate. This enzyme was previously listed under EC 3.1.25.2.
Clonal hematopoietic stem cell disorders characterized by dysplasia in one or more hematopoietic cell lineages. They predominantly affect patients over 60, are considered preleukemic conditions, and have high probability of transformation into ACUTE MYELOID LEUKEMIA.
A condition caused by prolonged exposure to excess levels of cortisol (HYDROCORTISONE) or other GLUCOCORTICOIDS from endogenous or exogenous sources. It is characterized by upper body OBESITY; OSTEOPOROSIS; HYPERTENSION; DIABETES MELLITUS; HIRSUTISM; AMENORRHEA; and excess body fluid. Endogenous Cushing syndrome or spontaneous hypercortisolism is divided into two groups, those due to an excess of ADRENOCORTICOTROPIN and those that are ACTH-independent.
An episode of MYOCARDIAL ISCHEMIA that generally lasts longer than a transient anginal episode that ultimately may lead to MYOCARDIAL INFARCTION.
A complex disorder characterized by infertility, HIRSUTISM; OBESITY; and various menstrual disturbances such as OLIGOMENORRHEA; AMENORRHEA; ANOVULATION. Polycystic ovary syndrome is usually associated with bilateral enlarged ovaries studded with atretic follicles, not with cysts. The term, polycystic ovary, is misleading.
A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects both sexes, with onset at birth or in early infancy.
The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level.
The reconstruction of a continuous two-stranded DNA molecule without mismatch from a molecule which contained damaged regions. The major repair mechanisms are excision repair, in which defective regions in one strand are excised and resynthesized using the complementary base pairing information in the intact strand; photoreactivation repair, in which the lethal and mutagenic effects of ultraviolet light are eliminated; and post-replication repair, in which the primary lesions are not repaired, but the gaps in one daughter duplex are filled in by incorporation of portions of the other (undamaged) daughter duplex. Excision repair and post-replication repair are sometimes referred to as "dark repair" because they do not require light.
Congenital syndrome characterized by a wide spectrum of characteristics including the absence of the THYMUS and PARATHYROID GLANDS resulting in T-cell immunodeficiency, HYPOCALCEMIA, defects in the outflow tract of the heart, and craniofacial anomalies.
A syndrome associated with defective sympathetic innervation to one side of the face, including the eye. Clinical features include MIOSIS; mild BLEPHAROPTOSIS; and hemifacial ANHIDROSIS (decreased sweating)(see HYPOHIDROSIS). Lesions of the BRAIN STEM; cervical SPINAL CORD; first thoracic nerve root; apex of the LUNG; CAROTID ARTERY; CAVERNOUS SINUS; and apex of the ORBIT may cause this condition. (From Miller et al., Clinical Neuro-Ophthalmology, 4th ed, pp500-11)
An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosome 15 (15q11-q13) or by inheritance of both of the pair of chromosomes 15 from the mother (UNIPARENTAL DISOMY) which are imprinted (GENETIC IMPRINTING) and hence silenced. Clinical manifestations include MENTAL RETARDATION; MUSCULAR HYPOTONIA; HYPERPHAGIA; OBESITY; short stature; HYPOGONADISM; STRABISMUS; and HYPERSOMNOLENCE. (Menkes, Textbook of Child Neurology, 5th ed, p229)
A condition that is characterized by episodes of fainting (SYNCOPE) and varying degree of ventricular arrhythmia as indicated by the prolonged QT interval. The inherited forms are caused by mutation of genes encoding cardiac ion channel proteins. The two major forms are ROMANO-WARD SYNDROME and JERVELL-LANGE NIELSEN SYNDROME.
The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.
Injuries to DNA that introduce deviations from its normal, intact structure and which may, if left unrepaired, result in a MUTATION or a block of DNA REPLICATION. These deviations may be caused by physical or chemical agents and occur by natural or unnatural, introduced circumstances. They include the introduction of illegitimate bases during replication or by deamination or other modification of bases; the loss of a base from the DNA backbone leaving an abasic site; single-strand breaks; double strand breaks; and intrastrand (PYRIMIDINE DIMERS) or interstrand crosslinking. Damage can often be repaired (DNA REPAIR). If the damage is extensive, it can induce APOPTOSIS.
An acute inflammatory autoimmune neuritis caused by T cell- mediated cellular immune response directed towards peripheral myelin. Demyelination occurs in peripheral nerves and nerve roots. The process is often preceded by a viral or bacterial infection, surgery, immunization, lymphoma, or exposure to toxins. Common clinical manifestations include progressive weakness, loss of sensation, and loss of deep tendon reflexes. Weakness of respiratory muscles and autonomic dysfunction may occur. (From Adams et al., Principles of Neurology, 6th ed, pp1312-1314)
A syndrome that is associated with microvascular diseases of the KIDNEY, such as RENAL CORTICAL NECROSIS. It is characterized by hemolytic anemia (ANEMIA, HEMOLYTIC); THROMBOCYTOPENIA; and ACUTE RENAL FAILURE.
Negative ions or salts derived from bromic acid, HBrO3.
Studies which start with the identification of persons with a disease of interest and a control (comparison, referent) group without the disease. The relationship of an attribute to the disease is examined by comparing diseased and non-diseased persons with regard to the frequency or levels of the attribute in each group.
Conditions in which increased pressure within a limited space compromises the BLOOD CIRCULATION and function of tissue within that space. Some of the causes of increased pressure are TRAUMA, tight dressings, HEMORRHAGE, and exercise. Sequelae include nerve compression (NERVE COMPRESSION SYNDROMES); PARALYSIS; and ISCHEMIC CONTRACTURE.
A neuropsychological disorder related to alterations in DOPAMINE metabolism and neurotransmission involving frontal-subcortical neuronal circuits. Both multiple motor and one or more vocal tics need to be present with TICS occurring many times a day, nearly daily, over a period of more than one year. The onset is before age 18 and the disturbance is not due to direct physiological effects of a substance or a another medical condition. The disturbance causes marked distress or significant impairment in social, occupational, or other important areas of functioning. (From DSM-IV, 1994; Neurol Clin 1997 May;15(2):357-79)
The presence of antibodies directed against phospholipids (ANTIBODIES, ANTIPHOSPHOLIPID). The condition is associated with a variety of diseases, notably systemic lupus erythematosus and other connective tissue diseases, thrombopenia, and arterial or venous thromboses. In pregnancy it can cause abortion. Of the phospholipids, the cardiolipins show markedly elevated levels of anticardiolipin antibodies (ANTIBODIES, ANTICARDIOLIPIN). Present also are high levels of lupus anticoagulant (LUPUS COAGULATION INHIBITOR).
A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.
A syndrome characterized by outbreaks of late term abortions, high numbers of stillbirths and mummified or weak newborn piglets, and respiratory disease in young unweaned and weaned pigs. It is caused by PORCINE RESPIRATORY AND REPRODUCTIVE SYNDROME VIRUS. (Radostits et al., Veterinary Medicine, 8th ed, p1048)
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
A form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, seminiferous tubule dysgenesis, elevated levels of GONADOTROPINS, low serum TESTOSTERONE, underdeveloped secondary sex characteristics, and male infertility (INFERTILITY, MALE). Patients tend to have long legs and a slim, tall stature. GYNECOMASTIA is present in many of the patients. The classic form has the karyotype 47,XXY. Several karyotype variants include 48,XXYY; 48,XXXY; 49,XXXXY, and mosaic patterns ( 46,XY/47,XXY; 47,XXY/48,XXXY, etc.).
Entrapment of the MEDIAN NERVE in the carpal tunnel, which is formed by the flexor retinaculum and the CARPAL BONES. This syndrome may be associated with repetitive occupational trauma (CUMULATIVE TRAUMA DISORDERS); wrist injuries; AMYLOID NEUROPATHIES; rheumatoid arthritis (see ARTHRITIS, RHEUMATOID); ACROMEGALY; PREGNANCY; and other conditions. Symptoms include burning pain and paresthesias involving the ventral surface of the hand and fingers which may radiate proximally. Impairment of sensation in the distribution of the median nerve and thenar muscle atrophy may occur. (Joynt, Clinical Neurology, 1995, Ch51, p45)
An autosomal recessive disorder that causes premature aging in adults, characterized by sclerodermal skin changes, cataracts, subcutaneous calcification, muscular atrophy, a tendency to diabetes mellitus, aged appearance of the face, baldness, and a high incidence of neoplastic disease.
A form of encephalopathy with fatty infiltration of the LIVER, characterized by brain EDEMA and VOMITING that may rapidly progress to SEIZURES; COMA; and DEATH. It is caused by a generalized loss of mitochondrial function leading to disturbances in fatty acid and CARNITINE metabolism.
A group of disorders caused by defective salt reabsorption in the ascending LOOP OF HENLE. It is characterized by severe salt-wasting, HYPOKALEMIA; HYPERCALCIURIA; metabolic ALKALOSIS, and hyper-reninemic HYPERALDOSTERONISM without HYPERTENSION. There are several subtypes including ones due to mutations in the renal specific SODIUM-POTASSIUM-CHLORIDE SYMPORTERS.
A species of ARTERIVIRUS causing reproductive and respiratory disease in pigs. The European strain is called Lelystad virus. Airborne transmission is common.
An aspect of personal behavior or lifestyle, environmental exposure, or inborn or inherited characteristic, which, on the basis of epidemiologic evidence, is known to be associated with a health-related condition considered important to prevent.
A syndrome of HEMOLYSIS, elevated liver ENZYMES, and low blood platelets count (THROMBOCYTOPENIA). HELLP syndrome is observed in pregnant women with PRE-ECLAMPSIA or ECLAMPSIA who also exhibit LIVER damage and abnormalities in BLOOD COAGULATION.
An autosomal recessive disorder characterized by telangiectatic ERYTHEMA of the face, photosensitivity, DWARFISM and other abnormalities, and a predisposition toward developing cancer. The Bloom syndrome gene (BLM) encodes a RecQ-like DNA helicase.
An autosomal dominant defect of cardiac conduction that is characterized by an abnormal ST-segment in leads V1-V3 on the ELECTROCARDIOGRAM resembling a right BUNDLE-BRANCH BLOCK; high risk of VENTRICULAR TACHYCARDIA; or VENTRICULAR FIBRILLATION; SYNCOPAL EPISODE; and possible sudden death. This syndrome is linked to mutations of gene encoding the cardiac SODIUM CHANNEL alpha subunit.
A heterogeneous group of autosomally inherited COLLAGEN DISEASES caused by defects in the synthesis or structure of FIBRILLAR COLLAGEN. There are numerous subtypes: classical, hypermobility, vascular, and others. Common clinical features include hyperextensible skin and joints, skin fragility and reduced wound healing capability.
A syndrome characterized by progressive life-threatening RESPIRATORY INSUFFICIENCY in the absence of known LUNG DISEASES, usually following a systemic insult such as surgery or major TRAUMA.
Enzymes that catalyze the cleavage of a carbon-oxygen bond by means other than hydrolysis or oxidation. EC 4.2.
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
A viral disorder characterized by high FEVER, dry COUGH, shortness of breath (DYSPNEA) or breathing difficulties, and atypical PNEUMONIA. A virus in the genus CORONAVIRUS is the suspected agent.
A purine nucleoside that has guanine linked by its N9 nitrogen to the C1 carbon of ribose. It is a component of ribonucleic acid and its nucleotides play important roles in metabolism. (From Dorland, 28th ed)
A disorder characterized by aching or burning sensations in the lower and rarely the upper extremities that occur prior to sleep or may awaken the patient from sleep.
Primary immunodeficiency syndrome characterized by recurrent infections and hyperimmunoglobulinemia E. Most cases are sporadic. Of the rare familial forms, the dominantly inherited subtype has additional connective tissue, dental and skeletal involvement that the recessive type does not share.
A rare, X-linked immunodeficiency syndrome characterized by ECZEMA; LYMPHOPENIA; and, recurrent pyogenic infection. It is seen exclusively in young boys. Typically, IMMUNOGLOBULIN M levels are low and IMMUNOGLOBULIN A and IMMUNOGLOBULIN E levels are elevated. Lymphoreticular malignancies are common.
In patients with neoplastic diseases a wide variety of clinical pictures which are indirect and usually remote effects produced by tumor cell metabolites or other products.
Condition characterized by large, rapidly extending, erythematous, tender plaques on the upper body usually accompanied by fever and dermal infiltration of neutrophilic leukocytes. It occurs mostly in middle-aged women, is often preceded by an upper respiratory infection, and clinically resembles ERYTHEMA MULTIFORME. Sweet syndrome is associated with LEUKEMIA.
An acquired defect of cellular immunity associated with infection by the human immunodeficiency virus (HIV), a CD4-positive T-lymphocyte count under 200 cells/microliter or less than 14% of total lymphocytes, and increased susceptibility to opportunistic infections and malignant neoplasms. Clinical manifestations also include emaciation (wasting) and dementia. These elements reflect criteria for AIDS as defined by the CDC in 1993.
Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)
Widespread necrotizing angiitis with granulomas. Pulmonary involvement is frequent. Asthma or other respiratory infection may precede evidence of vasculitis. Eosinophilia and lung involvement differentiate this disease from POLYARTERITIS NODOSA.
A non-inherited congenital condition with vascular and neurological abnormalities. It is characterized by facial vascular nevi (PORT-WINE STAIN), and capillary angiomatosis of intracranial membranes (MENINGES; CHOROID). Neurological features include EPILEPSY; cognitive deficits; GLAUCOMA; and visual defects.
A condition in which the hepatic venous outflow is obstructed anywhere from the small HEPATIC VEINS to the junction of the INFERIOR VENA CAVA and the RIGHT ATRIUM. Usually the blockage is extrahepatic and caused by blood clots (THROMBUS) or fibrous webs. Parenchymal FIBROSIS is uncommon.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.
A form of phagocyte bactericidal dysfunction characterized by unusual oculocutaneous albinism, high incidence of lymphoreticular neoplasms, and recurrent pyogenic infections. In many cell types, abnormal lysosomes are present leading to defective pigment distribution and abnormal neutrophil functions. The disease is transmitted by autosomal recessive inheritance and a similar disorder occurs in the beige mouse, the Aleutian mink, and albino Hereford cattle.
A form of ventricular pre-excitation characterized by a short PR interval and a long QRS interval with a delta wave. In this syndrome, atrial impulses are abnormally conducted to the HEART VENTRICLES via an ACCESSORY CONDUCTING PATHWAY that is located between the wall of the right or left atria and the ventricles, also known as a BUNDLE OF KENT. The inherited form can be caused by mutation of PRKAG2 gene encoding a gamma-2 regulatory subunit of AMP-activated protein kinase.
The appearance of the face that is often characteristic of a disease or pathological condition, as the elfin facies of WILLIAMS SYNDROME or the mongoloid facies of DOWN SYNDROME. (Random House Unabridged Dictionary, 2d ed)
A genetically heterogeneous disorder caused by hypothalamic GNRH deficiency and OLFACTORY NERVE defects. It is characterized by congenital HYPOGONADOTROPIC HYPOGONADISM and ANOSMIA, possibly with additional midline defects. It can be transmitted as an X-linked (GENETIC DISEASES, X-LINKED), an autosomal dominant, or an autosomal recessive trait.
A condition caused by dysfunctions related to the SINOATRIAL NODE including impulse generation (CARDIAC SINUS ARREST) and impulse conduction (SINOATRIAL EXIT BLOCK). It is characterized by persistent BRADYCARDIA, chronic ATRIAL FIBRILLATION, and failure to resume sinus rhythm following CARDIOVERSION. This syndrome can be congenital or acquired, particularly after surgical correction for heart defects.
Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.
Rare cutaneous eruption characterized by extensive KERATINOCYTE apoptosis resulting in skin detachment with mucosal involvement. It is often provoked by the use of drugs (e.g., antibiotics and anticonvulsants) or associated with PNEUMONIA, MYCOPLASMA. It is considered a continuum of Toxic Epidermal Necrolysis.
An enzyme which catalyzes the endonucleolytic cleavage of phosphodiester bonds at purinic or apyrimidinic sites (AP-sites) to produce 5'-Phosphooligonucleotide end products. The enzyme prefers single-stranded DNA (ssDNA) and was formerly classified as EC 3.1.4.30.
A form of cutaneous T-cell lymphoma manifested by generalized exfoliative ERYTHRODERMA; PRURITUS; peripheral lymphadenopathy, and abnormal hyperchromatic mononuclear (cerebriform) cells in the skin, LYMPH NODES, and peripheral blood (Sezary cells).
A rare complication of rheumatoid arthritis with autoimmune NEUTROPENIA; and SPLENOMEGALY.
Autosomal recessive hereditary disorders characterized by congenital SENSORINEURAL HEARING LOSS and RETINITIS PIGMENTOSA. Genetically and symptomatically heterogeneous, clinical classes include type I, type II, and type III. Their severity, age of onset of retinitis pigmentosa and the degree of vestibular dysfunction are variable.
A disturbance in the prooxidant-antioxidant balance in favor of the former, leading to potential damage. Indicators of oxidative stress include damaged DNA bases, protein oxidation products, and lipid peroxidation products (Sies, Oxidative Stress, 1991, pxv-xvi).
A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities.
A genotoxicological technique for measuring DNA damage in an individual cell using single-cell gel electrophoresis. Cell DNA fragments assume a "comet with tail" formation on electrophoresis and are detected with an image analysis system. Alkaline assay conditions facilitate sensitive detection of single-strand damage.
The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION.
Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment.
A multisystem disorder that is characterized by aplasia of intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC), and malformations in the cardiovascular system, the eyes, the vertebral column, and the facies. Major clinical features include JAUNDICE, and congenital heart disease with peripheral PULMONARY STENOSIS. Alagille syndrome may result from heterogeneous gene mutations, including mutations in JAG1 on CHROMOSOME 20 (Type 1) and NOTCH2 on CHROMOSOME 1 (Type 2).
Evaluation undertaken to assess the results or consequences of management and procedures used in combating disease in order to determine the efficacy, effectiveness, safety, and practicability of these interventions in individual cases or series.
Enzymes that are involved in the reconstruction of a continuous two-stranded DNA molecule without mismatch from a molecule, which contained damaged regions.
An autosomal recessive disorder characterized by RETINITIS PIGMENTOSA; POLYDACTYLY; OBESITY; MENTAL RETARDATION; hypogenitalism; renal dysplasia; and short stature. This syndrome has been distinguished as a separate entity from LAURENCE-MOON SYNDROME. (From J Med Genet 1997 Feb;34(2):92-8)
Symptom complex due to ACTH production by non-pituitary neoplasms.
A hereditary disease caused by autosomal dominant mutations involving CHROMOSOME 19. It is characterized by the presence of INTESTINAL POLYPS, consistently in the JEJUNUM, and mucocutaneous pigmentation with MELANIN spots of the lips, buccal MUCOSA, and digits.
An acute febrile disease occurring predominately in Asia. It is characterized by fever, prostration, vomiting, hemorrhagic phenonema, shock, and renal failure. It is caused by any one of several closely related species of the genus Hantavirus. The most severe form is caused by HANTAAN VIRUS whose natural host is the rodent Apodemus agrarius. Milder forms are caused by SEOUL VIRUS and transmitted by the rodents Rattus rattus and R. norvegicus, and the PUUMALA VIRUS with transmission by Clethrionomys galreolus.
A sex-linked recessive disorder affecting multiple systems including the EYE, the NERVOUS SYSTEM, and the KIDNEY. Clinical features include congenital CATARACT; MENTAL RETARDATION; and renal tubular dysfunction (FANCONI SYNDROME; RENAL TUBULAR ACIDOSIS; X-LINKED HYPOPHOSPHATEMIA or vitamin-D-resistant rickets) and SCOLIOSIS. This condition is due to a deficiency of phosphatidylinositol 4,5-bisphosphate-5-phosphatase leading to defects in PHOSPHATIDYLINOSITOL metabolism and INOSITOL signaling pathway. (from Menkes, Textbook of Child Neurology, 5th ed, p60; Am J Hum Genet 1997 Jun;60(6):1384-8)
A syndrome characterized by multiple system abnormalities including DWARFISM; PHOTOSENSITIVITY DISORDERS; PREMATURE AGING; and HEARING LOSS. It is caused by mutations of a number of autosomal recessive genes encoding proteins that involve transcriptional-coupled DNA REPAIR processes. Cockayne syndrome is classified by the severity and age of onset. Type I (classical; CSA) is early childhood onset in the second year of life; type II (congenital; CSB) is early onset at birth with severe symptoms; type III (xeroderma pigmentosum; XP) is late childhood onset with mild symptoms.
An autosomal recessive disorder of CHOLESTEROL metabolism. It is caused by a deficiency of 7-dehydrocholesterol reductase, the enzyme that converts 7-dehydrocholesterol to cholesterol, leading to an abnormally low plasma cholesterol. This syndrome is characterized by multiple CONGENITAL ABNORMALITIES, growth deficiency, and INTELLECTUAL DISABILITY.
Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones.
WASP protein is mutated in WISKOTT-ALDRICH SYNDROME and is expressed primarily in hematopoietic cells. It is the founding member of the WASP protein family and interacts with CDC42 PROTEIN to help regulate ACTIN polymerization.
An experimental lymphocytic leukemia of mice.
A condition characterized by persistent spasms (SPASM) involving multiple muscles, primarily in the lower limbs and trunk. The illness tends to occur in the fourth to sixth decade of life, presenting with intermittent spasms that become continuous. Minor sensory stimuli, such as noise and light touch, precipitate severe spasms. Spasms do not occur during sleep and only rarely involve cranial muscles. Respiration may become impaired in advanced cases. (Adams et al., Principles of Neurology, 6th ed, p1492; Neurology 1998 Jul;51(1):85-93)
A malabsorption syndrome resulting from extensive operative resection of the SMALL INTESTINE, the absorptive region of the GASTROINTESTINAL TRACT.
Rare chronic inflammatory disease involving the small blood vessels. It is of unknown etiology and characterized by mucocutaneous ulceration in the mouth and genital region and uveitis with hypopyon. The neuro-ocular form may cause blindness and death. SYNOVITIS; THROMBOPHLEBITIS; gastrointestinal ulcerations; RETINAL VASCULITIS; and OPTIC ATROPHY may occur as well.
An infant during the first month after birth.
A syndrome that is characterized by the triad of severe PEPTIC ULCER, hypersecretion of GASTRIC ACID, and GASTRIN-producing tumors of the PANCREAS or other tissue (GASTRINOMA). This syndrome may be sporadic or be associated with MULTIPLE ENDOCRINE NEOPLASIA TYPE 1.
An adverse drug interaction characterized by altered mental status, autonomic dysfunction, and neuromuscular abnormalities. It is most frequently caused by use of both serotonin reuptake inhibitors and monoamine oxidase inhibitors, leading to excess serotonin availability in the CNS at the serotonin 1A receptor.
A syndrome characterized by the clinical triad of advanced chronic liver disease, pulmonary vascular dilatations, and reduced arterial oxygenation (HYPOXEMIA) in the absence of intrinsic cardiopulmonary disease. This syndrome is common in the patients with LIVER CIRRHOSIS or portal hypertension (HYPERTENSION, PORTAL).
The influence of study results on the chances of publication and the tendency of investigators, reviewers, and editors to submit or accept manuscripts for publication based on the direction or strength of the study findings. Publication bias has an impact on the interpretation of clinical trials and meta-analyses. Bias can be minimized by insistence by editors on high-quality research, thorough literature reviews, acknowledgement of conflicts of interest, modification of peer review practices, etc.
Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait.
A DNA helicase that is a component of TRANSCRIPTION FACTOR TFIIH. It plays an essential role in NUCLEOTIDE EXCISION REPAIR, and mutations in this protein are associated with XERODERMA PIGMENTOSUM.
The ratio of two odds. The exposure-odds ratio for case control data is the ratio of the odds in favor of exposure among cases to the odds in favor of exposure among noncases. The disease-odds ratio for a cohort or cross section is the ratio of the odds in favor of disease among the exposed to the odds in favor of disease among the unexposed. The prevalence-odds ratio refers to an odds ratio derived cross-sectionally from studies of prevalent cases.
Hamartoneoplastic malformation syndrome of uncertain etiology characterized by partial GIGANTISM of the hands and/or feet, asymmetry of the limbs, plantar hyperplasia, hemangiomas (HEMANGIOMA), lipomas (LIPOMA), lymphangiomas (LYMPHANGIOMA), epidermal NEVI; MACROCEPHALY; cranial HYPEROSTOSIS, and long-bone overgrowth. Joseph Merrick, the so-called "elephant man", apparently suffered from Proteus syndrome and not NEUROFIBROMATOSIS, a disorder with similar characteristics.
A syndrome characterized by marked limitation of abduction of the eye, variable limitation of adduction and retraction of the globe, and narrowing of the palpebral fissure on attempted adduction. The condition is caused by aberrant innervation of the lateral rectus by fibers of the OCULOMOTOR NERVE.
Syndromes in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.
Voltage-dependent anion channel 1 is the major pore-forming protein of the mitochondrial outer membrane. It also functions as a ferricyanide reductase in the PLASMA MEMBRANE.
An abnormal triangular fold of membrane in the interpalpebral fissure, extending from the conjunctiva to the cornea, being immovably united to the cornea at its apex, firmly attached to the sclera throughout its middle portion, and merged with the conjunctiva at its base. (Dorland, 27th ed)
In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.
Conditions characterized by pain involving an extremity or other body region, HYPERESTHESIA, and localized autonomic dysfunction following injury to soft tissue or nerve. The pain is usually associated with ERYTHEMA; SKIN TEMPERATURE changes, abnormal sudomotor activity (i.e., changes in sweating due to altered sympathetic innervation) or edema. The degree of pain and other manifestations is out of proportion to that expected from the inciting event. Two subtypes of this condition have been described: type I; (REFLEX SYMPATHETIC DYSTROPHY) and type II; (CAUSALGIA). (From Pain 1995 Oct;63(1):127-33)
The combined effects of genotypes and environmental factors together on phenotypic characteristics.
Mandibulofacial dysostosis with congenital eyelid dermoids.
A condition of the newborn marked by DYSPNEA with CYANOSIS, heralded by such prodromal signs as dilatation of the alae nasi, expiratory grunt, and retraction of the suprasternal notch or costal margins, mostly frequently occurring in premature infants, children of diabetic mothers, and infants delivered by cesarean section, and sometimes with no apparent predisposing cause.
A potentially fatal syndrome associated primarily with the use of neuroleptic agents (see ANTIPSYCHOTIC AGENTS) which are in turn associated with dopaminergic receptor blockade (see RECEPTORS, DOPAMINE) in the BASAL GANGLIA and HYPOTHALAMUS, and sympathetic dysregulation. Clinical features include diffuse MUSCLE RIGIDITY; TREMOR; high FEVER; diaphoresis; labile blood pressure; cognitive dysfunction; and autonomic disturbances. Serum CPK level elevation and a leukocytosis may also be present. (From Adams et al., Principles of Neurology, 6th ed, p1199; Psychiatr Serv 1998 Sep;49(9):1163-72)
Rare congenital disorder with multiple anomalies including: characteristic dysmorphic craniofacial features, musculoskeletal abnormalities, neurocognitive delay, and high prevalence of cancer. Germline mutations in H-Ras protein can cause Costello syndrome. Costello syndrome shows early phenotypic overlap with other disorders that involve MAP KINASE SIGNALING SYSTEM (e.g., NOONAN SYNDROME and cardiofaciocutaneous syndrome).
A syndrome characterised by a low hairline and a shortened neck resulting from a reduced number of vertebrae or the fusion of multiple hemivertebrae into one osseous mass.
A clinically significant reduction in blood supply to the BRAIN STEM and CEREBELLUM (i.e., VERTEBROBASILAR INSUFFICIENCY) resulting from reversal of blood flow through the VERTEBRAL ARTERY from occlusion or stenosis of the proximal subclavian or brachiocephalic artery. Common symptoms include VERTIGO; SYNCOPE; and INTERMITTENT CLAUDICATION of the involved upper extremity. Subclavian steal may also occur in asymptomatic individuals. (From J Cardiovasc Surg 1994;35(1):11-4; Acta Neurol Scand 1994;90(3):174-8)
Acute respiratory illness in humans caused by the Muerto Canyon virus whose primary rodent reservoir is the deer mouse Peromyscus maniculatus. First identified in the southwestern United States, this syndrome is characterized most commonly by fever, myalgias, headache, cough, and rapid respiratory failure.
Biochemical identification of mutational changes in a nucleotide sequence.
The condition of a pattern of malignancies within a family, but not every individual's necessarily having the same neoplasm. Characteristically the tumor tends to occur at an earlier than average age, individuals may have more than one primary tumor, the tumors may be multicentric, usually more than 25 percent of the individuals in direct lineal descent from the proband are affected, and the cancer predisposition in these families behaves as an autosomal dominant trait with about 60 percent penetrance.
A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine).
Death resulting from the presence of a disease in an individual, as shown by a single case report or a limited number of patients. This should be differentiated from DEATH, the physiological cessation of life and from MORTALITY, an epidemiological or statistical concept.
A neurovascular syndrome associated with compression of the BRACHIAL PLEXUS; SUBCLAVIAN ARTERY; and SUBCLAVIAN VEIN at the superior thoracic outlet. This may result from a variety of anomalies such as a CERVICAL RIB, anomalous fascial bands, and abnormalities of the origin or insertion of the anterior or medial scalene muscles. Clinical features may include pain in the shoulder and neck region which radiates into the arm, PARESIS or PARALYSIS of brachial plexus innervated muscles, PARESTHESIA, loss of sensation, reduction of arterial pulses in the affected extremity, ISCHEMIA, and EDEMA. (Adams et al., Principles of Neurology, 6th ed, pp214-5).
Syndrome characterized by the triad of oculocutaneous albinism (ALBINISM, OCULOCUTANEOUS); PLATELET STORAGE POOL DEFICIENCY; and lysosomal accumulation of ceroid lipofuscin.
The naturally occurring or experimentally induced replacement of one or more AMINO ACIDS in a protein with another. If a functionally equivalent amino acid is substituted, the protein may retain wild-type activity. Substitution may also diminish, enhance, or eliminate protein function. Experimentally induced substitution is often used to study enzyme activities and binding site properties.
The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.
Studies used to test etiologic hypotheses in which inferences about an exposure to putative causal factors are derived from data relating to characteristics of persons under study or to events or experiences in their past. The essential feature is that some of the persons under study have the disease or outcome of interest and their characteristics are compared with those of unaffected persons.
A species of DNA virus, in the genus WHISPOVIRUS, infecting PENAEID SHRIMP.
An autosomal dominant disorder with an acronym of its seven features (LENTIGO; ELECTROCARDIOGRAM abnormalities; ocular HYPERTELORISM; PULMONARY STENOSIS; abnormal genitalia; retardation of growth; and DEAFNESS or SENSORINEURAL HEARING LOSS). This syndrome is caused by mutations of PTPN11 gene encoding the non-receptor PROTEIN TYROSINE PHOSPHATASE, type 11, and is an allelic to NOONAN SYNDROME. Features of LEOPARD syndrome overlap with those of NEUROFIBROMATOSIS 1 which is caused by mutations in the NEUROFIBROMATOSIS 1 GENES.
Alterations or deviations from normal shape or size which result in a disfigurement of the hand occurring at or before birth.
Congenital absence of or defects in structures of the eye; may also be hereditary.
A non-essential amino acid occurring in natural form as the L-isomer. It is synthesized from GLYCINE or THREONINE. It is involved in the biosynthesis of PURINES; PYRIMIDINES; and other amino acids.
Rare autosomal dominant syndrome characterized by mesenchymal and epithelial neoplasms at multiple sites. MUTATION of the p53 tumor suppressor gene, a component of the DNA DAMAGE response pathway, apparently predisposes family members who inherit it to develop certain cancers. The spectrum of cancers in the syndrome was shown to include, in addition to BREAST CANCER and soft tissue sarcomas (SARCOMA); BRAIN TUMORS; OSTEOSARCOMA; LEUKEMIA; and ADRENOCORTICAL CARCINOMA.
Proteins which bind to DNA. The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases.
A hereditary disease characterized by multiple ectodermal, mesodermal, and endodermal nevoid and neoplastic anomalies. Facial trichilemmomas and papillomatous papules of the oral mucosa are the most characteristic lesions. Individuals with this syndrome have a high risk of BREAST CANCER; THYROID CANCER; and ENDOMETRIAL CANCER. This syndrome is associated with mutations in the gene for PTEN PHOSPHATASE.
A disorder beginning in childhood whose essential features are persistent impairment in reciprocal social communication and social interaction, and restricted, repetitive patterns of behavior, interests, or activities. These symptoms may limit or impair everyday functioning. (From DSM-5)
A syndrome of congenital facial paralysis, frequently associated with abducens palsy and other congenital abnormalities including lingual palsy, clubfeet, brachial disorders, cognitive deficits, and pectoral muscle defects. Pathologic findings are variable and include brain stem nuclear aplasia, facial nerve aplasia, and facial muscle aplasia, consistent with a multifactorial etiology. (Adams et al., Principles of Neurology, 6th ed, p1020)
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
An enzyme which catalyzes an endonucleolytic cleavage near PYRIMIDINE DIMERS to produce a 5'-phosphate product. The enzyme acts on the damaged DNA strand, from the 5' side of the damaged site.
Functional KIDNEY FAILURE in patients with liver disease, usually LIVER CIRRHOSIS or portal hypertension (HYPERTENSION, PORTAL), and in the absence of intrinsic renal disease or kidney abnormality. It is characterized by intense renal vasculature constriction, reduced renal blood flow, OLIGURIA, and sodium retention.
Rare, autosomal dominant disease with variable penetrance and several known clinical types. Characteristics may include depigmentation of the hair and skin, congenital deafness, heterochromia iridis, medial eyebrow hyperplasia, hypertrophy of the nasal root, and especially dystopia canthorum. The underlying cause may be defective development of the neural crest (neurocristopathy). Waardenburg's syndrome may be closely related to piebaldism. Klein-Waardenburg Syndrome refers to a disorder that also includes upper limb abnormalities.
A systemic inflammatory response to a variety of clinical insults, characterized by two or more of the following conditions: (1) fever >38 degrees C or HYPOTHERMIA 90 beat/minute; (3) tachypnea >24 breaths/minute; (4) LEUKOCYTOSIS >12,000 cells/cubic mm or 10% immature forms. While usually related to infection, SIRS can also be associated with noninfectious insults such as TRAUMA; BURNS; or PANCREATITIS. If infection is involved, a patient with SIRS is said to have SEPSIS.
Disorders characterized by multiple cessations of respirations during sleep that induce partial arousals and interfere with the maintenance of sleep. Sleep apnea syndromes are divided into central (see SLEEP APNEA, CENTRAL), obstructive (see SLEEP APNEA, OBSTRUCTIVE), and mixed central-obstructive types.
A syndrome characterized by a TONIC PUPIL that occurs in combination with decreased lower extremity reflexes. The affected pupil will respond more briskly to accommodation than to light (light-near dissociation) and is supersensitive to dilute pilocarpine eye drops, which induce pupillary constriction. Pathologic features include degeneration of the ciliary ganglion and postganglionic parasympathetic fibers that innervate the pupillary constrictor muscle. (From Adams et al., Principles of Neurology, 6th ed, p279)
Studies in which individuals or populations are followed to assess the outcome of exposures, procedures, or effects of a characteristic, e.g., occurrence of disease.
Diseases characterized by injury or dysfunction involving multiple peripheral nerves and nerve roots. The process may primarily affect myelin or nerve axons. Two of the more common demyelinating forms are acute inflammatory polyradiculopathy (GUILLAIN-BARRE SYNDROME) and POLYRADICULONEUROPATHY, CHRONIC INFLAMMATORY DEMYELINATING. Polyradiculoneuritis refers to inflammation of multiple peripheral nerves and spinal nerve roots.
Observation of a population for a sufficient number of persons over a sufficient number of years to generate incidence or mortality rates subsequent to the selection of the study group.
A complication of OVULATION INDUCTION in infertility treatment. It is graded by the severity of symptoms which include OVARY enlargement, multiple OVARIAN FOLLICLES; OVARIAN CYSTS; ASCITES; and generalized EDEMA. The full-blown syndrome may lead to RENAL FAILURE, respiratory distress, and even DEATH. Increased capillary permeability is caused by the vasoactive substances, such as VASCULAR ENDOTHELIAL GROWTH FACTORS, secreted by the overly-stimulated OVARIES.
Elements of limited time intervals, contributing to particular results or situations.
The total number of cases of a given disease in a specified population at a designated time. It is differentiated from INCIDENCE, which refers to the number of new cases in the population at a given time.
A combination of distressing physical, psychologic, or behavioral changes that occur during the luteal phase of the menstrual cycle. Symptoms of PMS are diverse (such as pain, water-retention, anxiety, cravings, and depression) and they diminish markedly 2 or 3 days after the initiation of menses.
A variant of the GUILLAIN-BARRE SYNDROME characterized by the acute onset of oculomotor dysfunction, ataxia, and loss of deep tendon reflexes with relative sparing of strength in the extremities and trunk. The ataxia is produced by peripheral sensory nerve dysfunction and not by cerebellar injury. Facial weakness and sensory loss may also occur. The process is mediated by autoantibodies directed against a component of myelin found in peripheral nerves. (Adams et al., Principles of Neurology, 6th ed, p1313; Neurology 1987 Sep;37(9):1493-8)
A condition characterized by recurring episodes of fluid leaking from capillaries into extra-vascular compartments causing hematocrit to rise precipitously. If not treated, generalized vascular leak can lead to generalized EDEMA; SHOCK; cardiovascular collapse; and MULTIPLE ORGAN FAILURE.
An acquired cognitive disorder characterized by inattentiveness and the inability to form short term memories. This disorder is frequently associated with chronic ALCOHOLISM; but it may also result from dietary deficiencies; CRANIOCEREBRAL TRAUMA; NEOPLASMS; CEREBROVASCULAR DISORDERS; ENCEPHALITIS; EPILEPSY; and other conditions. (Adams et al., Principles of Neurology, 6th ed, p1139)
A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs.
An inherited renal disorder characterized by defective NaCl reabsorption in the convoluted DISTAL KIDNEY TUBULE leading to HYPOKALEMIA. In contrast with BARTTER SYNDROME, Gitelman syndrome includes hypomagnesemia and normocalcemic hypocalciuria, and is caused by mutations in the thiazide-sensitive SODIUM-POTASSIUM-CHLORIDE SYMPORTERS.
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
A country spanning from central Asia to the Pacific Ocean.
A hereditary condition characterized by multiple symptoms including those of DIABETES INSIPIDUS; DIABETES MELLITUS; OPTIC ATROPHY; and DEAFNESS. This syndrome is also known as DIDMOAD (first letter of each word) and is usually associated with VASOPRESSIN deficiency. It is caused by mutations in gene WFS1 encoding wolframin, a 100-kDa transmembrane protein.
A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)
Naturally occurring or experimentally induced animal diseases with pathological processes sufficiently similar to those of human diseases. They are used as study models for human diseases.
Syndrome consisting of SYNOVITIS; ACNE CONGLOBATA; PALMOPLANTAR PUSTULOSIS; HYPEROSTOSIS; and OSTEITIS. The most common site of the disease is the upper anterior chest wall, characterized by predominantly osteosclerotic lesions, hyperostosis, and arthritis of the adjacent joints. The association of sterile inflammatory bone lesions and neutrophilic skin eruptions is indicative of this syndrome.
A mild form of LIMITED SCLERODERMA, a multi-system disorder. Its features include symptoms of CALCINOSIS; RAYNAUD DISEASE; ESOPHAGEAL MOTILITY DISORDERS; sclerodactyly, and TELANGIECTASIS. When the defect in esophageal function is not prominent, it is known as CRST syndrome.
A condition of involuntary weight loss of greater then 10% of baseline body weight. It is characterized by atrophy of muscles and depletion of lean body mass. Wasting is a sign of MALNUTRITION as a result of inadequate dietary intake, malabsorption, or hypermetabolism.
A condition that occurs when the obstruction of the thin-walled SUPERIOR VENA CAVA interrupts blood flow from the head, upper extremities, and thorax to the RIGHT ATRIUM. Obstruction can be caused by NEOPLASMS; THROMBOSIS; ANEURYSM; or external compression. The syndrome is characterized by swelling and/or CYANOSIS of the face, neck, and upper arms.
A species of CORONAVIRUS causing atypical respiratory disease (SEVERE ACUTE RESPIRATORY SYNDROME) in humans. The organism is believed to have first emerged in Guangdong Province, China, in 2002. The natural host is the Chinese horseshoe bat, RHINOLOPHUS sinicus.
Tumors or cancer of the LUNG.
A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.
A factitious disorder characterized by habitual presentation for hospital treatment of an apparent acute illness, the patient giving a plausible and dramatic history, all of which is false.
A heterogeneous group of disorders characterized by a congenital defect in neuromuscular transmission at the NEUROMUSCULAR JUNCTION. This includes presynaptic, synaptic, and postsynaptic disorders (that are not of autoimmune origin). The majority of these diseases are caused by mutations of various subunits of the nicotinic acetylcholine receptor (RECEPTORS, NICOTINIC) on the postsynaptic surface of the junction. (From Arch Neurol 1999 Feb;56(2):163-7)
The magnitude of INBREEDING in humans.
A type of IN SITU HYBRIDIZATION in which target sequences are stained with fluorescent dye so their location and size can be determined using fluorescence microscopy. This staining is sufficiently distinct that the hybridization signal can be seen both in metaphase spreads and in interphase nuclei.
A syndrome which is characterized by symbrachydactyly and aplasia of the sternal head of pectoralis major.
Non-invasive method of demonstrating internal anatomy based on the principle that atomic nuclei in a strong magnetic field absorb pulses of radiofrequency energy and emit them as radiowaves which can be reconstructed into computerized images. The concept includes proton spin tomographic techniques.
Measurable and quantifiable biological parameters (e.g., specific enzyme concentration, specific hormone concentration, specific gene phenotype distribution in a population, presence of biological substances) which serve as indices for health- and physiology-related assessments, such as disease risk, psychiatric disorders, environmental exposure and its effects, disease diagnosis, metabolic processes, substance abuse, pregnancy, cell line development, epidemiologic studies, etc.
Double-stranded DNA of MITOCHONDRIA. In eukaryotes, the mitochondrial GENOME is circular and codes for ribosomal RNAs, transfer RNAs, and about 10 proteins.
Rare autosomal recessive disease characterized by multiple organ dysfunction. The key clinical features include retinal degeneration (NYSTAGMUS, PATHOLOGIC; RETINITIS PIGMENTOSA; and eventual blindness), childhood obesity, sensorineural hearing loss, and normal mental development. Endocrinologic complications include TYPE 2 DIABETES MELLITUS; HYPERINSULINEMIA; ACANTHOSIS NIGRICANS; HYPOTHYROIDISM; and progressive renal and hepatic failures. The disease is caused by mutations in the ALMS1 gene.
A chromosomal disorder characterized by MENTAL RETARDATION, broad thumbs, webbing of fingers and toes, beaked nose, short upper lip, pouting lower lip, agenesis of corpus callosum, large foramen magnum, keloid formation, pulmonary stenosis, vertebral anomalies, chest wall anomalies, sleep apnea, and megacolon. The disease has an autosomal dominant pattern of inheritance and is associated with deletions of the short arm of chromosome 16 (16p13.3).
The abrupt and unexplained death of an apparently healthy infant under one year of age, remaining unexplained after a thorough case investigation, including performance of a complete autopsy, examination of the death scene, and review of the clinical history. (Pediatr Pathol 1991 Sep-Oct;11(5):677-84)
A condition caused by underdevelopment of the whole left half of the heart. It is characterized by hypoplasia of the left cardiac chambers (HEART ATRIUM; HEART VENTRICLE), the AORTA, the AORTIC VALVE, and the MITRAL VALVE. Severe symptoms appear in early infancy when DUCTUS ARTERIOSUS closes.
A form of long QT syndrome that is without congenital deafness. It is caused by mutation of the KCNQ1 gene which encodes a protein in the VOLTAGE-GATED POTASSIUM CHANNEL.
Levels within a diagnostic group which are established by various measurement criteria applied to the seriousness of a patient's disorder.
A congenital anomaly of the hand or foot, marked by the webbing between adjacent fingers or toes. Syndactylies are classified as complete or incomplete by the degree of joining. Syndactylies can also be simple or complex. Simple syndactyly indicates joining of only skin or soft tissue; complex syndactyly marks joining of bony elements.
A congenital abnormality in which the CEREBRUM is underdeveloped, the fontanels close prematurely, and, as a result, the head is small. (Desk Reference for Neuroscience, 2nd ed.)
Individuals whose ancestral origins are in the southeastern and eastern areas of the Asian continent.
An autosomal recessive syndrome occurring principally in females, characterized by the presence of reticulated, atrophic, hyperpigmented, telangiectatic cutaneous plaques, often accompanied by juvenile cataracts, saddle nose, congenital bone defects, disturbances in the growth of HAIR; NAILS; and TEETH; and HYPOGONADISM.
A genetic or pathological condition that is characterized by short stature and undersize. Abnormal skeletal growth usually results in an adult who is significantly below the average height.
The residual framework structure of the CELL NUCLEUS that maintains many of the overall architectural features of the cell nucleus including the nuclear lamina with NUCLEAR PORE complex structures, residual CELL NUCLEOLI and an extensive fibrogranular structure in the nuclear interior. (Advan. Enzyme Regul. 2002; 42:39-52)
Disease having a short and relatively severe course.
A round-to-oval mass of lymphoid tissue embedded in the lateral wall of the PHARYNX. There is one on each side of the oropharynx in the fauces between the anterior and posterior pillars of the SOFT PALATE.
A group of painful oral symptoms associated with a burning or similar sensation. There is usually a significant organic component with a degree of functional overlay; it is not limited to the psychophysiologic group of disorders.
Inhaling and exhaling the smoke of burning TOBACCO.
Recording of the moment-to-moment electromotive forces of the HEART as projected onto various sites on the body's surface, delineated as a scalar function of time. The recording is monitored by a tracing on slow moving chart paper or by observing it on a cardioscope, which is a CATHODE RAY TUBE DISPLAY.
A thiol-containing non-essential amino acid that is oxidized to form CYSTINE.
Diminished effectiveness of INSULIN in lowering blood sugar levels: requiring the use of 200 units or more of insulin per day to prevent HYPERGLYCEMIA or KETOSIS.

Birt-Hogg-Dube syndrome with multiple cysts and recurrent pneumothorax: pathological findings. (1/21)

A 39-year-old woman presented with right-sided pneumothorax. Partial lung resection was done via thoracoscopy. Five years later, left-sided pneumothorax occurred, and she underwent thoracoscopy again. However, air leakage continued, and pleurodesis was performed. Although she had no skin eruptions or renal tumors, Birt-Hogg-Dube (BHD) syndrome was suggested by radiographic findings. BHD gene analysis was performed, which revealed the BHD gene mutation. Reevaluation of pathological findings showed elastic fibers in the alveolar walls with fine granular changes and accumulation of macrophages. BHD syndrome should be considered in patients presenting with multiple pulmonary cysts with or without skin eruption, or kidney tumor.  (+info)

Absence of the Birt-Hogg-Dube gene product is associated with increased hypoxia-inducible factor transcriptional activity and a loss of metabolic flexibility. (2/21)

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Birt-Hogg-Dube renal tumors are genetically distinct from other renal neoplasias and are associated with up-regulation of mitochondrial gene expression. (3/21)

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Loss of the Birt-Hogg-Dube tumor suppressor results in apoptotic resistance due to aberrant TGFbeta-mediated transcription. (4/21)

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Pulmonary features of Birt-Hogg-Dube syndrome: cystic lesions and pulmonary histiocytoma. (5/21)

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Identification of intragenic deletions and duplication in the FLCN gene in Birt-Hogg-Dube syndrome. (6/21)

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Renal cancer and pneumothorax risk in Birt-Hogg-Dube syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families. (7/21)

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Genetic interstitial lung disease. (8/21)

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Birt-Hogg-Dube syndrome (BHD; MIM 135150) also known as Hornstein-Knickenberg syndrome, is an autosomal dominant genodermatosis. It is characterized by cutaneous findings (fibrofolliculomas and acrochordons), pulmonary cysts and spontaneous pneumothorax, and renal cysts and tumors. Additional findings may include facial papules, intestinal polyposis, colorectal adenomas, parotid oncocytomas, neural tissue tumors, lipomas, and angiolipomas. BDH is caused by mutations in the FLCN gene, which codes for folliculin. Some individuals with primary spontaneous pneumothorax (PSP; MIM 173600) can have dominant mutations in FLCN. Most of these individuals also have bullous lung lesions. Spontaneous pneumothorax can be a finding in certain connective tissue disorders including Marfan syndrome, type I (MFS1; MIM 154700) and Ehlers-Danlos syndrome, type IV (EDS IV; MIM 130050). Pulmonary bullae can also occur with alpha-1-antitrypsin deficiency (MIM 613490).. Read less ...
TY - JOUR. T1 - Absence of the Birt-Hogg-Dube gene product is associated with increased hypoxia-inducible factor transcriptional activity and a loss of metabolic flexibility. AU - Preston,R. S.. AU - Philp,A.. AU - Claessens,T.. AU - Gijezen,L.. AU - Dydensborg,A. B.. AU - Dunlop,E. A.. AU - Harper,K. T.. AU - Brinkhuizen,T.. AU - Menko,F. H.. AU - Davies,D. M.. AU - Land,S.C.. AU - Pause,A.. AU - Baar,K.. AU - van Steensel,Maurice. AU - Tee,A. R.. PY - 2011. Y1 - 2011. N2 - Under conditions of reduced tissue oxygenation, hypoxia-inducible factor (HIF) controls many processes, including angiogenesis and cellular metabolism, and also influences cell proliferation and survival decisions. HIF is centrally involved in tumour growth in inherited diseases that give rise to renal cell carcinoma (RCC), such as Von Hippel-Lindau syndrome and tuberous sclerosis complex. In this study, we examined whether HIF is involved in tumour formation of RCC in Birt-Hogg-Dube syndrome. For this, we analysed a ...
Mutations in FLCN cause Birt-Hogg-Dubé syndrome, an autosomal dominant disorder notable for development of cutaneous fibrofolliculomas or trichodiscomas, a variety of renal tumors, and spontaneous pneumothorax due to cystic lung changes. We present a woman referred for genetic evaluation due to bil …
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the folliculin-interacting protein family. The encoded protein binds to the tumor suppressor folliculin and to AMP-activated protein kinase (AMPK) and be involved in cellular metabolism and nutrient sensing by regulating the AMPK-mechanistic target of rapamycin signaling pathway. A homologous binding partner of this protein, folliculin-interacting protein 2, has similar binding activities and may suggest functional redundancy within this protein family. Both folliculin-interacting proteins have also been shown to bind the molecular chaperone heat shock protein-90 (Hsp90) and they may function as a co-chaperones in the stabilization of tumor suppressor folliculin which is a target of Hsp90 chaperone activity. [provided by RefSeq, Sep 2016 ...
Lattouf et al., 2016. Structured assessment and followup for patients with hereditary kidney tumour syndromes. [Open Access PDF] [PMID: 28255411]. Hasumi et al., 2016. H255Y and K508R missense mutations in tumour suppressor folliculin (FLCN) promote kidney cell proliferation. [PMID: 28007907]. Castellucci et al., 2016. Multiple chromophobe and clear cell renal cancer in a patient affected by Birt-Hogg-Dubè syndrome: a case report. [PMID: 28009417]. Wiyono et al., 2016. Birt-Hogg-Dubé syndrome in an Indonesian patient with folliculin gene mutation. [Open Access PDF] [PMID: 28031834]. Monserrate et al., 2016. A Case of Birt-Hogg-Dubé, Presenting With Recurrent Pneumothorax, Managed With Intrabronchial Valve Placement. [PMID: 27984390]. Tanegashima et al., 2016. Clinical features of Birt-Hogg-Dubé syndrome: A Japanese case with pulmonary cysts, fibrofolliculomas and renal cell carcinoma. [PMID: 27943432]. Radzikowska et al., 2016. Familial pneumothoraces: Birt-Hogg-Dubé syndrome. [Open Access ...
Menko et al., 2009. Birt-Hogg-Dubé syndrome: diagnosis and management. Lancet Oncol, 10 (12), 1199-206 [PMID: 19959076] [BHD Article Library]. Hornstein, 1976. Generalized dermal perifollicular fibromas with polyps of the colon. Hum Genet, 33 (2), 193-7 [PMID: 939573]. Birt et al., 1977. Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons. Arch Dermatol, 113 (12), 1674-7 [PMID: 596896]. Khoo et al., 2002. Clinical and genetic studies of Birt-Hogg-Dubé syndrome. J Med Genet, 39 (12), 906-12 [PMID: 12471204] [BHD Article Library]. Nahorski et al., 2010. Investigation of the Birt-Hogg-Dube tumour suppressor gene (FLCN) in familial and sporadic colorectal cancer. J Med Genet, 47 (6), 385-90 [PMID: 20522427]. Liu et al., 2000. Parotid oncocytoma in the Birt-Hogg-Dubé syndrome. J Am Acad Dermatol, 43 (6), 1120-2 [PMID: 11100034]. Schmidt et al., 2005. Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome. Am J Hum ...
Groshi,. I am not a geneticist, so this is only supposition on my part.. I am Dutch by birth and live in Australia. I find it interesting that when I research kidney disease on the web, the Dutch experience is all about the genetic syndromes such as von-Hippel Lindau disease, and an early diognosis by one of my radiologists was possible Birt-Hogg-Dube syndrome, which was never followed up as I enrolled in a clinical trial of combination immunotherapy, which seems to have worked. These things are far less commonly mentioned in the US medical literature, although you will find them if you look hard enough.. So I wonder if perhaps some populations such as North-Western Europeans have something in their genetic make-up, or if there is (or has been) a broad environmental exposure (would have to be early age for me) that triggers a latent genetic susceptibity we all have? Food for thought and at some time in the future science will no doubt be able to answer these questions. So an epidemiological ...
Renal oncocytosis is a rare condition in which the kidney develops numerous oncocytomas. We present a case of a 12-year-old female who presented with right-sided flank pain of one-year duration. Imaging revealed several masses in the right kidney. Tissue biopsy confirmed multiple benign oncocytomas. Due to the presence of multiple oncocytomas throughout the kidney, a radical nephrectomy was performed. Given the rarity of this condition, as well as its known association with von Hippel-Lindau disease and Birt-Hogg-Dube syndrome, genetic investigations were pursued but failed to identify any abnormalities. This patient remains well and disease free six years after surgery. A review of the literature of this rare condition was performed.
Birt-Hogg-Dubé syndrome (BHDS), Authors: Benedetta Toschi, Maurizio Genuardi. Published in: Atlas Genet Cytogenet Oncol Haematol.
Birt-Hogg-Dube Syndrome (BHDS) is a rare genetic disorder in humans characterized by increased risk for renal tumors. BHDS is caused by mutations in the BHD gene, which encodes for Folliculin, and cytoplasmic adapter ...
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The Birt-Hogg-Dube disease occurs as a result of germline mutations in the human Folliculin gene (FLCN), and is characterized by clinical features including fibrofolliculomas, lung cysts and multifocal renal neoplasia. Clinical and genetic evidence suggest that FLCN acts as a tumor suppressor gene. The human cell line UOK257, derived from the renal cell carcinoma of a patient with a germline mutation in the FLCN gene, harbors a truncated version of the FLCN protein. Reconstitution of the wild type FLCN protein into UOK257 cells delays cell cycle progression, due to a slower progression through the late S and G2/M-phases. Similarly, Flcn-/- mouse embryonic fibroblasts progress more rapidly through the cell cycle than wild type controls (Flcnflox/flox). The reintroduction of tumor-associated FLCN mutants (FLCN DF157, FLCN 1-469 or FLCN K508R) fails to delay cell cycle progression in UOK257 cells. Additionally, FLCN phosphorylation (on Serines 62 and 73) fluctuates throughout the cell cycle and ...
An inherited condition characterized by the development of kidney oncocytomas which are often bilateral and multifocal. This condition may be connected to Birt-Hogg-Dube syndrome.
A variety of different tumors have been described associated with BHDS. This is the first case report of a patient with BHDS developing choroidal melanoma. Careful examination of the lids is important to identify fibrofolliculomas.
This gene encodes a protein that binds to the tumor suppressor protein folliculin and to AMP-activated protein kinase (AMPK). The encoded protein participates in the regulation of cellular metabolism and nutrient sensing by modulating the AMPK and target of rapamycin signaling pathways. This gene has a closely related paralog that encodes a protein with similar binding activities. Both related proteins also associate with the molecular chaperone heat shock protein-90 (Hsp90) and negatively regulate its ATPase activity and facilitate its association with folliculin. [provided by RefSeq, Jul 2017 ...
Fibrofolliculomas are 2 to 4 mm in diameter, dome-shaped, yellowish or skin-colored papules usually located on the head, neck, and upper trunk. They are characteristically seen in Birt-Hogg-Dubé syndrome. Trichodiscoma List of cutaneous conditions List of cutaneous neoplasms associated with systemic syndromes Freedberg, et al. (2003). Fitzpatricks Dermatology in General Medicine. (6th ed.). Page 994. McGraw-Hill. ISBN 0-07-138076-0. James, William D.; Berger, Timothy G.; et al. (2006). Andrews Diseases of the Skin: Clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0 ...
The microphthalmia family (MITF, TFEB, TFE3, and TFEC) of transcription factors is emerging as global regulators of cancer cell survival and energy metabolism, both through the promotion of lysosomal genes as well as newly characterized targets, such as oxidative metabolism and the oxidative stress response. In addition, MiT/TFE factors can regulate lysosomal signaling, which includes the mTORC1 and Wnt/β-catenin pathways, which are both substantial contributors to oncogenic signaling. This review describes recent discoveries in MiT/TFE research and how they impact multiple cancer subtypes. Furthermore, the literature relating to TFE-fusion proteins in cancers and the potential mechanisms through which these genomic rearrangements promote tumorigenesis is reviewed. Likewise, the emerging function of the Folliculin (FLCN) tumor suppressor in negatively regulating the MiT/TFE family and how loss of this pathway promotes cancer is examined. Recent reports are also presented that relate to the role ...
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RATIONALE: In female patients, the etiologies of spontaneous pneumothorax are more various than those in male patients, because diseases specific to female, such as lymphangioleiomyomatosis (LAM) and catamenial pneumothorax (CP), exist. To our knowledge, there have been no reports concerning the usefulness of the chest computed tomographic (CT) findings in female patients with spontaneous pneumothorax in the differentiation of potential causes.. METHODS: We retrospectively reviewed the characteristics of the chest CT findings in consecutive 129 female patients with spontaneous pneumothorax in whom the definitive diagnosis was obtained by pathological analysis or genetic testing.. RESULTS: The number of patients with primary spontaneous pneumothorax (PSP), CP, Birt-Hogg-Dubé syndrome (BHDS), and LAM were 53, 42, 19 and 15, respectively. The mean age of patients with PSP, CP, BHDS and LAM were 32.1, 38.7, 46.3 and 37.1 years old, respectively. In CP, only one patient experienced left-sided ...
Primary spontaneous pneumothorax (PSP), or collapsed lung, results from the presence of air in the pleural space in the absence of a precipitating event such as trauma or lung disease. Affected individuals have subpleural blebs or bullae in the lungs (localized emphysema-like changes) that are associated with destruction of lung tissue. The majority of cases are sporadic. Isolated familial PSP is rarer, and has been associated with mutations in the FLCN gene in a small number of families ...
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Postdoctoral Research Assistant (Dec 2012- present) Pulmonary Cyst Development in BHD Syndrome, Division of Cardiovascular and Diabetes Medicine, Ninewells Hospital ..
Csh1 245 -3.31E+00 Melk 246 -3.30E+00 1459742_at 247 -3.30E+00 Nmnat3 248 -3.30E+00 A930015G24Rik 249 -3.29E+00 2810417H13Rik 250 -3.29E+00 Mrgprb1 251 -3.29E+00 1700061G19Rik 252 -3.29E+00 1459554_at 253 -3.28E+00 14378G7_at 254 -3.27E+00 Ceacam13 255 -3.27E+00 A130019P10Rik 256 -3.27E+00 Aqp11 257 -3.27E+00 2310047C04Rik 258 -3.27E+00 Dpp4 259 -3.27E+00 Otud1 260 -3.27E+00 1442468_at 261 -3.26E+00 B230101F01Rik 262 -3.26E+00 Tal2 263 -3.26E+00 Cplx1 264 -3.26E+00 Slc25a27 265 -3.26E+00 Spsb4 266 -3.25E+00 Mtm1 267 -3.25E+00 Bambi-ps1 268 -3.25E+00 1432510_ai 269 -3.25E+00 Pcmtd2 270 -3.25E+00 Clec2h 271 -3.24E+00 4930535E21Rik 272 -3.24E+00 1457234_at 273 -3.24E+00 Gm172 274 -3.23E+00 Gm996 275 -3.22E+00 E130014H08Rik 276 -3.22E+00 H2afy2 277 -3.22E+00 Defb3 278 -3.21E+00 Rbbp8 279 -3.20E+00 Dnase1l2 280 -3.19E+00 Sesn1 281 -3.19E+00 Accn3 282 -3.18E+00 4921537P18Rik 283 -3.18E+00 Hsd17b13 284 -3.18E+00 1810044A24Rik 285 -3.18E+00 Gas5 286 -3.18E+00 Flcn 287 -3.17E+00 Igh-4///Igh-6///Igh-V 288 ...
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Discussion: Renal oncocytoma is a benign renal neoplasm which comprises 3-7 percent of adult kidney tumors. One half to two-thirds of these lesions are found incidentally. However, they can present with hematuria, flank pain and be palpable on clinical examination. Occasionally large bilateral tumors can present as renal failure. Oncocytomas have been reported in patients with Birt-Hogg-Dube and Von-Hippel Lindau syndromes. The most common cytogenetic abnormalities include loss of chromosomes 1 and y and translocations of 11q13. In very rare cases, both kidneys show diffuse involvement with macroscopic and microscopic oncocytoma, chromophobe renal cell carcinomas, and hybrid tumors with oncocytic changes of the adjacent renal tubules epithelium. These cases have been termed renal oncocytosis. The major differential diagnosis to consider is chromophobe renal cell carcinoma. Compared to oncocytoma, chromophobe renal cell carcinoma shows nuclear hyperchromasia with nuclear membrane irregularities. ...
A brief introduction to radiographs and chest CT scans for the diagnosis of cystic lung diseases.  Lymphangioleiomyomatosis (LAM) is the focus – including diagnosis of the disease and its complications.  Other cystic lung diseases such as Langerhans Histiocytosis, Birt-Hogg-Dube and Lymphocytic Interstitial Pneumonia (LIP) will also be mentioned.
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Diffuse cystic lung diseases are characterized by cysts in more than one lung lobe, the cysts originating from various mechanisms, including the expansion of the distal airspaces due to airway obstruction, necrosis of the airway walls, and parenchymal destruction. The progression of these diseases is variable. One essential tool in the evaluation of these diseases is HRCT, because it improves the characterization of pulmonary cysts (including their distribution, size, and length) and the evaluation of the regularity of the cyst wall, as well as the identification of associated pulmonary and extrapulmonary lesions ...
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Acts as a co-chaperone of HSP90AA1. Inhibits the ATPase activity of HSP90AA1 leading to reduction in its chaperone activity. Facilitates the binding of client protein FLCN to HSP90AA1 (PubMed:27353360). May play a role in the signal transduction pathway of apoptosis induced by O6-methylguanine-mispaired lesions (By similarity). May be involved in energy and/or nutrient sensing through the AMPK and mTOR signaling pathways (PubMed:18403135). May regulate phosphorylation of RPS6KB1 (PubMed:18663353).
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Chromophobe renal cell carcinoma is a rare type of kidney cancer that develops in cells that are involved in the production of urine. Cancers form when a change (mutation) in DNA causes certain cells to grow out of control, sometimes forming a lump or a tumor. Some of these cancerous cells can break off and spread to other parts of the body where they will continue to grow (metastasis). Chromophobe renal cell carcinoma usually occurs in adults between the ages of 40 and 60, although it can appear in all age groups. This type of carcinoma is associated with Birt-Hogg-Dubé syndrome, an inherited disorder caused by a mutation in the FLCN gene. The FLCN gene is involved in regulating cell growth, and a mutation in this gene can cause cells to grow out of control. This situation places affected individuals at higher risk of developing chromophobe renal cell carcinoma as well as noncancerous growths in the kidneys, lungs, and hair follicles. Common symptoms include the presence of blood in the urine, ...
Chromophobe renal cell carcinoma is a rare type of kidney cancer that develops in cells that are involved in the production of urine. Cancers form when a change (mutation) in DNA causes certain cells to grow out of control, sometimes forming a lump or a tumor. Some of these cancerous cells can break off and spread to other parts of the body where they will continue to grow (metastasis). Chromophobe renal cell carcinoma usually occurs in adults between the ages of 40 and 60, although it can appear in all age groups. This type of carcinoma is associated with Birt-Hogg-Dubé syndrome, an inherited disorder caused by a mutation in the FLCN gene. The FLCN gene is involved in regulating cell growth, and a mutation in this gene can cause cells to grow out of control. This situation places affected individuals at higher risk of developing chromophobe renal cell carcinoma as well as noncancerous growths in the kidneys, lungs, and hair follicles. Common symptoms include the presence of blood in the urine, ...
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This research trial studies kidney tumors in younger patients. Collecting and storing samples of tumor tissue, blood, and urine from patients with cancer
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Fröhlich, B A; Zeitz, C; Mátyás, G; Alkadhi, H; Tuor, C; Berger, W; Russi, E W (2008). Novel mutations in the folliculin gene associated with spontaneous pneumothorax. European Respiratory Journal, 32(5):1316-1320.. Berger, W (2008). Mouse models of norrie disease. In: Chalupa, L M; Williams, R W. Eye, Retina, and Visual System of the Mouse. Cumberland: Harvard University Press, 527-537.. Zorzetto, M; Russi, E; Senn, O; Imboden, M; Ferrarotti, I; Tinelli, C; Campo, I; Ottaviani, S; Scabini, R; von Eckardstein, A; Berger, W; Brändli, O; Rochat, T; Luisetti, M; Probst-Hensch, N; Sapaldia, Team (2008). SERPINA1 gene variants in individuals from the general population with reduced alpha1-antitrypsin concentrations. Clinical Chemistry, 54(8):1331-1338.. Reimann, C; Kloeckener-Gruissem, B; Niemeyer, C M; Vanscheidt, W (2008). Late manifestation of dyskeratosis congenita presenting as chronic dermal ulcer in a 37-year-old man. Journal of the European Academy of Dermatology and Venereology, ...
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April 2010). "Clinical and genetic spectrum of Birt-Hogg-Dube syndrome patients in whom pneumothorax and/or multiple lung cysts ... Birt-Hogg-Dubé syndrome protein or FLCN_HUMAN is a protein that in humans is associated with Birt-Hogg-Dubé syndrome and ... Kennedy JC, Khabibullin D, Henske EP (April 2016). "Mechanisms of pulmonary cyst pathogenesis in Birt-Hogg-Dube syndrome: The ... "Birt-Hogg-Dube syndrome is a novel ciliopathy". Human Molecular Genetics. 22 (21): 4383-97. doi:10.1093/hmg/ddt288. PMC 3792695 ...
Von Hippel-Lindau disease Birt-Hogg-Dube syndrome "Hereditary Leiomyomatosis and Renal Cell Carcinoma". NORD (National ...
Cohen, P. R.; Kurzrock, R. (1995-01-01). "Miscellaneous genodermatoses: Beckwith-Wiedemann syndrome, Birt-Hogg-Dube syndrome, ... Beckwith-Wiedemann syndrome, Costello syndrome, Noonan syndrome, and DICER1 syndrome. There are multiple genetic lesions ... Risk factors that increase the likelihood of this cancer include inherited disorders such as Li-Fraumeni syndrome, ... Robertson, JC; Jorcyk, CL; Oxford, JT (15 May 2018). "DICER1 Syndrome: DICER1 Mutations in Rare Cancers". Cancers. 10 (5): 143 ...
Birt-Hogg-Dube syndrome, hyperparathyroidism-jaw tumor syndrome, familial papillary thyroid carcinoma, von Hippel-Lindau ... These syndromes most commonly affect tissues which have not been invaded by the cancer. The most common PNSs seen in people ... Stauffer syndrome Knudson hypothesis Interleukin-2 Kidney cancer Rapamycin Vinblastine Dysuria Interferon Curti, B; Jana, BRP; ... RCC is also associated with a number of paraneoplastic syndromes (PNS) which are conditions caused by either the hormones ...
Birt-Hogg-Dube syndrome - bispecific antibody - bispecific monoclonal antibody - bisphosphonate - bizelesin - BL22 immunotoxin ... FAMMM syndrome - Fanconi anemia - Fanconi syndrome - FAP - fatty-replaced breast tissue - fazarabine - fecal occult blood test ... multiple endocrine neoplasia syndrome - multiple endocrine neoplasia type 1 syndrome - multiple myeloma - multiple sclerosis - ... Peutz-Jeghers syndrome - phagocyte - pharmacokinetics - phase I trial - phase I/II trial - phase II trial - phase II/III trial ...
2008), "BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dube syndrome: A new series of 50 families ... Birt-Hogg-Dubé syndrome (BHD), also Hornstein-Birt-Hogg-Dubé syndrome, Hornstein-Knickenberg syndrome, and fibrofolliculomas ... "Birt-Hogg-Dube syndrome, BHD", Online Mendelian Inheritance in Man, Johns Hopkins University, archived from the original on 10 ... "Birt-Hogg-Dube syndrome: Clinicopathological features of the lung", Journal of Clinical Pathology, 66 (3): 178-86, doi:10.1136/ ...
... von Hippel-Lindau syndrome , Hereditary papillary renal carcinoma , Birt-Hogg-Dube syndrome , Hereditary renal carcinoma. ... Nephrotic syndrome. Sakit da ding proximal convoluted tubules. Fanconi syndrome (Type II renal tubular acidosis) , renal cell ... NephCure Foundation Only organization solely committed to support research seeking the cause of Nephrotic Syndrome and FSGS, ... Alport syndrome , Polycystic kidney disease , Wilms' tumour (children) , ...
These two proteins are involved in Tuberous Sclerosis Complex and Birt-Hogg-Dubé syndrome (BHD) syndromes respectively. His ... Sager RA, Woodford MR, Shapiro O, Mollapour M, Bratslavsky G. Sporadic renal angiomyolipoma in a patient with Birt-Hogg-Dube: ...
Mutations in FLCN cause Birt-Hogg-Dubé syndrome, an autosomal dominant disorder notable for development of cutaneous ... Birt-Hogg-Dube syndrome presenting as multiple oncocytic parotid tumors Hered Cancer Clin Pract. 2012 Oct 10;10(1):13. doi: ... Mutations in FLCN cause Birt-Hogg-Dubé syndrome, an autosomal dominant disorder notable for development of cutaneous ... who was subsequently diagnosed with Birt-Hogg-Dubé syndrome. ...
Click on a [studies] link to search within your current results for studies in that region. Use the back button to return to this list and try another region ...
Birt-Hogg-Dube syndrome is a novel ciliopathy.. [Monique N H Luijten, Sander G Basten, Tijs Claessens, Marigje Vernooij, Claire ... Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant disorder where patients are predisposed to kidney cancer, lung and ...
Birt-Hogg Dubé syndrome is an autosomal dominant disease with variable clinical expression. It is characterized by cutaneous ... A vestibular schwannoma in a patient with Birt-Hogg-Dube syndrome Genet Couns. 2014;25(2):203-8. ... Birt-Hogg Dubé syndrome is an autosomal dominant disease with variable clinical expression. It is characterized by cutaneous ... This syndrome is caused by germline mutations in the folliculin (FLCN) gene located on chromosome 17p. We report, for the first ...
Wikipedia on Birt-Hogg-Dube syndrome (Less technical, ? quality control). UpToDate® on Birt-Hogg-Dube syndrome (Technical, ... Nice Guidance on Birt-Hogg-Dube syndrome. Centre for Reviews and Dissemination databases -DARE & NHS EED (evaluates reliability ... BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dube Syndrome: A new series of 50 families and a ... Birt-Hogg-Dube syndrome in N Eng J Med, Lancet, JAMA, BMJ ... Pubmed on Birt-Hogg-Dube syndrome. RCT with Birt-Hogg-Dube ...
Birt-Hogg-Dube Syndrome Caused by a Novel Mutation in the FLCL Gene.(Case Report) by Case Reports in Genetics; Health, ... APA style: Birt-Hogg-Dube Syndrome Caused by a Novel Mutation in the FLCL Gene.. (n.d.) >The Free Library. (2014). Retrieved ... MLA style: "Birt-Hogg-Dube Syndrome Caused by a Novel Mutation in the FLCL Gene.." The Free Library. 2018 Hindawi Limited 04 ... Birt-Hogg-Dube syndrome is marked by kidney tumors, cystic lung disease, and skin fibrofolliculomas. It has also been ...
What is Birt-Hogg-Dube syndrome? Meaning of Birt-Hogg-Dube syndrome as a finance term. What does Birt-Hogg-Dube syndrome mean ... Definition of Birt-Hogg-Dube syndrome in the Financial Dictionary - by Free online English dictionary and encyclopedia. ... Birt-Hogg-Dube syndrome financial definition of Birt-Hogg-Dube syndrome https://financial-dictionary.thefreedictionary.com/Birt ... Although these tumors may be sporadic, many are seen in patients with Birt-Hogg-Dube syndrome. (26,27) This syndrome can ...
Recurrent Spontaneous Pneumothorax as a Manifestation of Birt-Hogg-Dube Syndrome Neumotórax espontáneos de repetición como ...
Find Doctor & Book an appointment online, View Reviews, Fees & Cost for treating Birt Hogg Dube Syndrome Treatment in Manila ... Treatment for Birt Hogg Dube Syndrome Treatment in San Miguel, Manila. ...
Birt Hogg Dube Syndrome. Introduction. Birt-Hogg-Dubé syndrome (BHDS) is an autosomal dominant genodermatosis usually ... Birt-Hogg-Dubé syndrome is rare. It occurs in males and females. Patients usually present for the first time during young adult ... Xu WS,Tian XL,Yang YL,Xu KF, [Birt-Hogg-Dubé syndrome: a hereditary pulmonary cystic disease]. Zhonghua jie he he hu xi za zhi ... Birt-Hogg-Dubé syndrome (BHDS) is an autosomal dominant genodermatosis usually manifesting in the third decade of life with ...
Birt-Hogg-Dube Syndrome is an autosomal dominant inherited disease that is rare in nature and causes the growth of non- ... Causes of Birt-Hogg-Dube Syndrome. The Birt-Hogg-Dube Syndrome is a result of mutation occurring in the FLCN or BHD gene on a ... Birt-Hogg-Dube Syndrome. Birt-Hogg-Dube Syndrome is an autosomal dominant inherited disease that is rare in nature and causes ... Treatment for Birt-Hogg-Dube Syndrome. Patients who have Birt-Hogg-Dube Syndrome will have to be through with physical as well ...
Birt-Hogg-Dube syndrome (BHD; MIM 135150) also known as Hornstein-Knickenberg syndrome, is an autosomal dominant genodermatosis ... Birt-Hogg-Dube syndrome (BHD; MIM 135150) also known as Hornstein-Knickenberg syndrome, is an autosomal dominant genodermatosis ... Spontaneous pneumothorax can be a finding in certain connective tissue disorders including Marfan syndrome, type I (MFS1; MIM ... 154700) and Ehlers-Danlos syndrome, type IV (EDS IV; MIM 130050). Pulmonary bullae can also occur with alpha-1-antitrypsin ...
Experimental: Birt-Hogg-Dube Syndrome*Birt-Hogg-Dube Syndrome (BHD)-associated renal tumors ... Everolimus Therapy in People With Birt-Hogg-Dube Syndrome (BHD)-Associated Kidney Cancer or Sporadic Chromophobe Renal Cancer. ... To see if everolimus is safe and effective in people with Birt-Hogg-Dube Syndrome (BHD)-associated kidney cancer or sporadic ( ... Birt-Hogg-Dube (BHD) is a hereditary cancer syndrome with clinical manifestations including cutaneous fibrofolliculomas, lung ...
Immunological Perturbation in Patients with Birt-Hogg-Dube Syndrome. Rochester, Minn.. The purpose of this study is to ...
... resources and questions answered by our Genetic and Rare Diseases Information Specialists for Birt-Hogg-Dube syndrome ... Birt-Hogg-Dubé syndrome. Genetics Home Reference (GHR). 01/2013; http://ghr.nlm.nih.gov/condition/birt-hogg-dube-syndrome. ... Birt-Hogg-Dube syndrome Title Other Names:. BHD syndrome; Fibrofolliculomas with trichodiscomas and acrochordons; BHD; BHD ... Birt-Hogg-Dube Syndrome. National Organization for Rare Disorders (NORD). 2012; http://rarediseases.org/rare-diseases/birt-hogg ...
Birt-Hogg-Dubé syndrome is a rare disorder that affects the skin and lungs and increases the risk of certain types of tumors. ... medlineplus.gov/genetics/condition/birt-hogg-dube-syndrome/ Birt-Hogg-Dubé syndrome. ... Birt-Hogg-Dubé syndrome is a rare disorder that affects the skin. and lungs. and increases the risk of certain types of tumors ... Birt-Hogg-Dubé Syndrome. 2006 Feb 27 [updated 2020 Jan 30]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G ...
Assessment of Safety of Air Travel in Patients With Birt-Hogg-Dube Syndrome. *Birt-Hogg-Dube Syndrome ... Genetic Analysis of Birt Hogg-Dube Syndrome and Characterization of Predisposition to Kidney Cancer. *Kidney Neoplasms ... Rate of recurrent pneumothorax in patients with Birt-Hogg-Dube syndrome. *Efficacy of pleurodesis in reducing the risk of ... recurrent pneumothoraces in Birt-Hogg-Dube syndrome. 100. All. 18 Years and older (Adult, Senior). NCT03040115. RLDC5714A. ...
Schmidt LS, Kotloff RM: Birt Hogg Dube Syndrome. Diffuse Cystic Lung Diseases: A Comprehensive Guide. Gupta N, McCormack FX, ...
Birt-Hogg-Dube syndrome: a novel marker of kidney neoplasia. Arch Dermatol. 1999 Oct. 135(10):1195-202. [Medline]. ... Detection of 1733insC mutations in an Asian family with Birt-Hogg-Dube syndrome. Br J Dermatol. 2005 Jan. 152(1):142-5. [ ... Birt-Hogg-Dube syndrome. Arch Dermatol. 1997 Sep. 133(9):1163, 1166. [Medline]. ... Birt-Hogg-Dubé syndrome in two Chinese families with mutations in the FLCN gene. BMC Med Genet. 2018 Jan 22. 19 (1):14. [ ...
Beckwith-Wiedemann syndrome. *Birt-Hogg-Dube syndrome. *Dyskeratosis congenita. *Familial adenomatous polyposis ... See a list of publications by Mayo Clinic authors on hereditary cancer syndromes on PubMed, a service of the National Library ... Expertise. Familial cancer syndromes are rare, and its important to seek evaluation from doctors familiar with your cancer. ... Mayo Clinics highly trained specialists are experienced in the diagnosis and treatment of all familial cancer syndromes. ...
Birt-Hogg-Dube syndrome: a novel marker of kidney neoplasia. Arch Dermatol. 1999 Oct. 135(10):1195-202. [Medline]. ... Birt-Hogg-Dube (BHD) syndrome is a rare autosomal dominant genodermatosis characterized by skin tumors, including multiple ... Detection of 1733insC mutations in an Asian family with Birt-Hogg-Dube syndrome. Br J Dermatol. 2005 Jan. 152(1):142-5. [ ... Birt-Hogg-Dube syndrome. Arch Dermatol. 1997 Sep. 133(9):1163, 1166. [Medline]. ...
Birt-Hogg-Dube syndrome, Pneumothorax, primary spontaneous. AD. 154. 210. LTBP4 Cutis laxa with severe pulmonary, ... The prevalence of Birt-Hogg-Dube syndrome is estimated at 1:200,000, and tuberous sclerosis 1:11,300 -25,000, sporadic ... Birt-Hogg-Dube syndrome, lymphangioleiomyomatosis (LAM) and tuberous sclerosis are characterized by cystic lung lesions that ... Birt-Hogg-Dube syndrome. Q82.8. Autosomal recessive (ARCL1) and autosomal dominant cutis laxa (ADCL). ...
Birt-Hogg-Dube syndrome is a novel ciliopathy Autores: Luijten, Monique N. H.,Basten, Sander G.,Claessens, Tijs,Vernooij, ... Bardet-Biedl syndrome (BBS), Meckel-Gruber syndrome (MKS), Orofacialdigital 1 syndrome (OFD), Usher syndrome (USH), and Jeune ... Bardet-Biedl syndrome (BBS) and Alström syndrome.. One major focus has been the functional characterisation of NINL and this ... we have also used zebrafish as a key tool to model the loss of disease genes in Bardet-Biedl syndrome and Alström syndrome. We ...
A substrate-specific mTORC1 pathway underlies Birt-Hogg-Dube syndrome. Nature 585, 597-602 (2020). ...
Journal Article] Birt-Hogg-Dube; syndrome: Clinical and molecular aspects of recently identified kidney cancer syndrome2016. * ... Epidemiologic and Clinicopathologic Studies of Japanese Asian Patients with Birt-Hogg-Dube syndrome; Syndrome.2016. *. Author(s ... Presentation] Histopathological analyses of renal tumors in Birt-Hogg-Dube syndrome.2016. *. Author(s). Furuya M, Kato I, Iribe ... Journal Article] Radiologically Indeterminate Pulmonary Cysts in Birt-Hogg-Dubé Syndrome..2014. *. Author(s). Onuki T, Goto Y, ...
Birt Hogg Dube Syndrome. *Chronic Obstructive Pulmonary Disease (COPD) *Interstitial Lung Disease (ILD)/Pulmonary Fibrosis * ...
"Birt-Hogg-Dubé Syndrome." ,?https://rarediseases.org/rare-diseases/birt-hogg-dube-syndrome/,.?. Shah, R., A. Jindal, and N.M. ... "Acrochordons as a Cutaneous Sign of Metabolic Syndrome: A Case-Control Study." Ann Med Health Sci Res 4.2 Mar.-Apr. 2014: 202- ... Causes of insulin can include conditions such as stress, obesity, metabolic syndrome, and steroid use. Some of the risk factors ...
Mechanisms of pulmonary cyst pathogenesis in Birt-Hogg-Dube syndrome: The stretch hypothesis. ... Birt-Hogg-Dubé syndrome: Clinical and molecular aspects of recently identified kidney cancer syndrome. ... Clinical Features, Genetics and Potential Therapeutic Approaches for Birt-Hogg-Dubé Syndrome. ... Interaction of folliculin (Birt-Hogg-Dubé gene product) with a novel Fnip1-like (FnipL/Fnip2) protein. ...
... syndrome, a hereditary syndrome associated with the appearance of familiar renal oncocytomas. Most mutations affecting FLCN ... syndrome, a hereditary syndrome associated with the appearance of familiar renal oncocytomas. Most mutations affecting FLCN ... FLCN was identified as the gene responsible for Birt-Hogg-Dubé (BHD) ... FLCN was identified as the gene responsible for Birt-Hogg-Dubé (BHD) ...
  • For example, in von Hippel-Lindau syndrome, (5) it appears that the incidence of pancreatic involvement by renal cell carcinoma is less than the general population, whereas in the setting of Birt-Hogg-Dube syndrome , (6) the scant data suggest that incidence may be the same as that in the general population. (thefreedictionary.com)
  • Our understanding of the molecular mechanisms underlying the tumorigenesis of renal cell carcinoma (RCC) has partially come from studies of RCC related familial cancer syndromes such as von Hippel-Lindau (VHL) disease and hereditary papillary RCC (HPRC). (bmj.com)
  • Von Hippel-Lindau syndrome (VHL) is a rare inherited disorder that causes tumours and cysts to develop in different parts of the body, including the kidney. (cancer.ca)
  • I also want to have genetic testing for Von Hippel Lindau and/or Birt Hogg Dube. (cancer.org)
  • I asked my urologist about this the day after my nephrectomy and he said they could do the Von Hippel Lindau test (blood test) but that (his practice) didn't do the other genetic testing for Birt Hogg Dube. (cancer.org)
  • certain inherited syndromes such as von Hippel-Lindau disease, Birt-Hogg-Dube syndrome, tuberous sclerosis. (rxwiki.com)
  • These include: Von Hippel-Lindau (VHL) syndrome, Birt-Hogg-Dube syndrome, Hereditary Non-VHL Clear Cell Cancer and Hereditary Papillary Renal Cell Cancer. (canceractive.com)
  • HIF is centrally involved in tumour growth in inherited diseases that give rise to renal cell carcinoma (RCC), such as Von Hippel-Lindau syndrome and tuberous sclerosis complex. (dundee.ac.uk)
  • Given the rarity of this condition, as well as its known association with von Hippel-Lindau disease and Birt-Hogg-Dube syndrome, genetic investigations were pursued but failed to identify any abnormalities. (mendeley.com)
  • Disorders under investigation are: Autosomal dominant inherited urologic malignant disorders including: von Hippel- Lindau (VHL), hereditary papillary renal cancer (HPRC), Birt Hogg Dube (BHD) and hereditary leiomyomatosis and renal cell acarcinoma (HLRCC) as well as familial renal cancer. (clinicaltrials.gov)
  • Individuals and biologic family members with a suspected or an established diagnosis of von Hippel-Lindau (VHL) syndrome or hereditary papillary renal carcinoma (HPRC), Type I. (clinicaltrials.gov)
  • von Hippel-Lindau disease, hereditary papillary renal cell carcinoma, hereditary leiomyoma renal cell carcinoma, Birt-Hogg-Dube (BHD) syndrome, familial renal cancer, hereditary renal oncocytoma. (carle.org)
  • Emerging research has established a fundamental link between cytoskeletal structures such as centrioles and cilia in the regulation of DNA repair and genomic instability, highlighted by an increasing number of cancers/syndromes with clear ciliary connections such as Birt-Hogg-Dube syndrome, Von Hippel-Lindau disease and Tuberous Sclerosis. (biochemistry.org)
  • Mutations in FLCN cause Birt-Hogg-Dubé syndrome, an autosomal dominant disorder notable for development of cutaneous fibrofolliculomas or trichodiscomas, a variety of renal tumors, and spontaneous pneumothorax due to cystic lung changes. (nih.gov)
  • This syndrome is caused by germline mutations in the folliculin (FLCN) gene located on chromosome 17p. (nih.gov)
  • There are isolated case reports of other multiple tumors forming in patients with Birt-Hogg-Dube syndrome, though these have not thus far shown a clear association with the mutation of the folliculin (FLCN) gene responsible for the syndrome. (thefreelibrary.com)
  • Birt-Hogg-Dube syndrome [OMIM #135150] is a rare autosomal dominant inherited disorder caused by a mutation in the FLCN gene located on chromosome 17p11.2, which acts as a tumour suppressor and probably interacts with mTOR and AMPK signalling pathways [1]. (thefreedictionary.com)
  • The Birt-Hogg-Dube Syndrome is a result of mutation occurring in the FLCN or BHD gene on a particular chromosome which has a protein called folliculin. (uafp.org)
  • Mutations in the FLCN gene cause Birt-Hogg-Dubé syndrome. (medlineplus.gov)
  • Having a single mutated copy of the FLCN gene in each cell is enough to cause the skin tumors and lung problems associated with Birt-Hogg-Dubé syndrome. (medlineplus.gov)
  • Birt-Hogg-Dubé syndrome in two Chinese families with mutations in the FLCN gene. (medscape.com)
  • FLCN was identified as the gene responsible for Birt-Hogg-Dubé (BHD) syndrome, a hereditary syndrome associated with the appearance of familiar renal oncocytomas. (frontiersin.org)
  • Folliculin also known as FLCN, Birt-Hogg-Dubé syndrome protein or FLCN_HUMAN is a protein that in humans is associated with Birt-Hogg-Dubé syndrome and hereditary spontaneous pneumothorax. (wikipedia.org)
  • Molecular Location on chromosome 17: base pairs 17,056,252 to 17,081,230 (NCI Build 36.1) Germline mutations in the FLCN gene cause Birt-Hogg-Dubé syndrome (BHD), an autosomal dominant disease that predisposes individuals to develop benign tumors of the hair follicle called fibrofolliculomas, lung cysts, spontaneous pneumothorax, and an increased risk for kidney tumors. (wikipedia.org)
  • A region spanning chromosome 17p11 was identified and mutations in a novel gene, FLCN, were subsequently found in the germline of individuals affected with BHD syndrome. (wikipedia.org)
  • Diseases associated with FLCN include Pneumothorax, Primary Spontaneous and Birt-Hogg-Dube Syndrome . (genecards.org)
  • While all reported families with BHD syndrome mutations involve the Folliculin (FLCN) gene, the clinical phenotype in terms of dermatosis, neoplasia and pneumothorax is highly variable. (ersjournals.com)
  • BHD syndrome is caused by loss-of-function mutations in the folliculin (FLCN) protein. (aacrjournals.org)
  • To develop therapeutic approaches for renal cell carcinoma (RCC) in BHD syndrome, we adopted a strategy to identify tumor-selective growth inhibition in a RCC cell line with FLCN inactivation. (aacrjournals.org)
  • BHD syndrome results from inactivating mutations in the folliculin ( FLCN ) gene ( 10-12 ). (aacrjournals.org)
  • Defects in FLCN are the cause of Birt-Hogg-Dube syndrome (BHD) [MIM:135150]. (abcam.com)
  • FLCN_HUMAN ] Familial spontaneous pneumothorax;Birt-Hogg-Dube syndrome. (proteopedia.org)
  • Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant disorder where patients are predisposed to kidney cancer, lung and kidney cysts and benign skin tumors. (sigmaaldrich.com)
  • Pneumothorax is a complication in roughly 30% of people with Birt-Hogg-Dube syndrome and is secondary to lung cysts. (thefreelibrary.com)
  • Birt-Hogg-Dube syndrome was suspected given this patient's basilar predominant multiple lung cysts and bilateral renal masses, but without skin findings the diagnosis was in question. (thefreelibrary.com)
  • Patients with this syndrome have an increased susceptibility to renal cell carcinoma, lung cysts, and spontaneous pneumothorax. (statpearls.com)
  • People suffering from this syndrome will have a higher risk of developing kidney or colon cancer as a result of spontaneous pneumothorax (lung collapse) because of pulmonary (lung) cysts. (uafp.org)
  • Birt-Hogg-Dube (BHD) is a hereditary cancer syndrome with clinical manifestations including cutaneous fibrofolliculomas, lung cysts/pneumothorax, and renal cell carcinoma (RCC). (trialbulletin.com)
  • At the time of diagnosis of Birt-Hogg-Dube (BHD) syndrome , a computed tomography (CT) scan, or high resolution CT scan if available, should be done to determine the number, location, and size of any cysts in the lungs. (cdc.gov)
  • Mutations in this gene are associated with Birt-Hogg-Dube syndrome, which is characterized by fibrofolliculomas, renal tumors, lung cysts, and pneumothorax. (genecards.org)
  • We report three generations of an English family who suffered spontaneous pneumothoraces in the absence of other features of the BHD syndrome and were found to have lung cysts. (ersjournals.com)
  • Birt-Hogg-Dubé (BHD) Syndrome is a dominantly familial cancer syndrome associated with susceptibility to RCC and also benign skin fibrofolliculomas and multiple lung cysts and spontaneous pneumothrorax ( 8, 9 ). (aacrjournals.org)
  • Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant inherited disorder characterised by fibrofolliculomas, renal tumours, pulmonary cysts and pneumothorax. (bmj.com)
  • The pulmonary cysts and repeated episodes of pneumothorax are the clinical hallmarks for discovering families affected by the syndrome. (bmj.com)
  • Birt-Hogg-Dubé syndrome (BHDS) is an autosomal, dominantly inherited genodermatosis that predisposes to fibrofolliculomas, kidney neoplasms, lung cysts, and spontaneous pneumothorax. (pubmedcentralcanada.ca)
  • The lesions are also infrequently seen in certain conditions such as Birt-Hogg-Dube syndrome, which is a rare autosomal dominantly inherited syndrome that gives rise to fibrous folliculomas, pneumothorax, pulmonary cysts and tumors of both kidneys. (news-medical.net)
  • Because folliculin has been implicated in the mTOR pathway, medications such as rapamycin, a mTOR inhibitor, have theoretical application in the treatment of Birt-Hogg-Dubé lesions. (statpearls.com)
  • Interaction of folliculin (Birt-Hogg-Dubé gene product) with a novel Fnip1-like (FnipL/Fnip2) protein. (nih.gov)
  • He also studied the biological function of the folliculin gene product which, when mutated, causes the kidney cancer predisposition syndrome Birt-Hogg-Dube. (northshore.org)
  • It traditionally presents in a familial, autosomal dominant pattern with high penetrance, but there are few reports in the literature of unique mutations presenting with this syndrome [3, 4]. (thefreelibrary.com)
  • Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndrome. (medlineplus.gov)
  • Detection of 1733insC mutations in an Asian family with Birt-Hogg-Dube syndrome. (medscape.com)
  • We currently can detect mutations in a high percentage of kindreds with this hereditary cancer syndrome (nearly 100 percent). (cancer.gov)
  • Hereditary papillary RCC is a familial syndrome associated with activating mutations of the MET protooncogene. (endocrinologyadvisor.com)
  • Early studies into the function of these transcription factors identified that mutations in MITF led to Waardenburg syndrome type II, characterized by hypopigmentation and defects in ectodermal development ( 7 ), while murine homozygous TFEB knockouts fail to develop due to lack of placental vascularization ( 8 ). (aacrjournals.org)
  • Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. (springermedizin.de)
  • BHD mutations cause the Birt-Hogg-Dube syndrome and its associated chromophobe, hybrid oncocytic, and conventional (clear cell) RCC. (kegg.jp)
  • Birt-Hogg-Dube syndrome is marked by kidney tumors, cystic lung disease, and skin fibrofolliculomas. (thefreelibrary.com)
  • The skin findings are typically fibrofolliculomas, usually on the face, and are the most common finding in Birt-Hogg-Dube syndrome. (thefreelibrary.com)
  • Birt-Hogg-Dubé syndrome (BHDS) is an autosomal dominant genodermatosis usually manifesting in the third decade of life with multiple fibrofolliculomas, trichodiscomas, and acrochordons. (statpearls.com)
  • Birt-Hogg-Dube (BHD) syndrome is a rare autosomal dominant genodermatosis characterized by skin tumors, including multiple fibrofolliculomas, trichodiscomas, and acrochordons. (medscape.com)
  • [ 3 ] All skin lesions in the syndrome may actually represent fibrofolliculomas cut in various planes of section. (medscape.com)
  • Birt-Hogg-Dubé syndrome was originally described by three Canadian physicians in a family in which 15 of 70 members over 3 generations exhibited a triad of dermatological lesions (fibrofolliculomas, trichodiscomas and acrochordons). (wikipedia.org)
  • A.R. Birt, G.R. Hogg and W.J. Dube originally described a syndrome of multiple hamartomas of the hair follicle (fibrofolliculomas, trichodiscomas and acrochordons) inherited in an autosomal dominant pattern 2 . (ersjournals.com)
  • Birt-Hogg-Dube (BHD) is a tumor suppressor gene syndrome associated with fibrofolliculomas, cystic lung disease, and chromophobe renal cell carcinoma. (harvard.edu)
  • Birt-Hogg-Dubé is a rare, autosomal dominant genetic syndrome in which patients often present with fibrofolliculomas, trichodiscomas, and acrochordons in their 20s. (psychiatryadvisor.com)
  • We present a woman referred for genetic evaluation due to bilateral parotid gland tumors, who was subsequently diagnosed with Birt-Hogg-Dubé syndrome. (nih.gov)
  • BHD is in the family of hamartomatous disorders similar to Tuberous Sclerosis Complex (TSC) and Cowden Syndrome, and studies have found activation of the phosphoinositide 3-kinase (PI3K)/mTOR pathway in BHD renal tumors. (trialbulletin.com)
  • Birt-Hogg-Dubé syndrome is characterized by multiple noncancerous (benign) skin tumors, particularly on the face, neck, and upper chest. (medlineplus.gov)
  • Additionally, Birt-Hogg-Dubé syndrome is associated with an elevated risk of developing cancerous or noncancerous kidney tumors. (medlineplus.gov)
  • Other types of cancer have also been reported in affected individuals, but it is unclear whether these tumors are actually a feature of Birt-Hogg-Dubé syndrome. (medlineplus.gov)
  • Renal tumors in the Birt-Hogg-Dubé syndrome. (medlineplus.gov)
  • Subsequently, cosegregation of kidney neoplasms with BHD cutaneous lesions was observed in 3 families with a family history of kidney tumors, suggesting that kidney tumors may be part of the BHD syndrome phenotype. (wikipedia.org)
  • Birt-Hogg-Dube' Syndrome (BHDS) is a rare genetic disorder in humans characterized by increased risk for renal tumors. (washington.edu)
  • Birt-hogg-dube syndrome - a skin disease that affects the hair follicles, which is associated with kidney tumors and air pockets in the lungs. (cancercenter.com)
  • Hereditary cystic lung diseases including alpha-1-antitrypsin deficiency, autosomal recessive (ARCL1) and autosomal dominant cutis laxa (ADCL), Birt-Hogg-Dube syndrome, lymphangioleiomyomatosis (LAM) and tuberous sclerosis are characterized by cystic lung lesions that can result in breathing difficulty, pain and pneumothorax. (blueprintgenetics.com)
  • In 1977, Birt, Hogg and Dube (BHD) described a genodermatosis characterised by benign tumours of the hair follicle that has been associated with renal neoplasms and spontaneous pneumothorax. (ersjournals.com)
  • A diagnosis of BHD syndrome confers a seven-fold increased risk of developing renal neoplasia and a 50-fold increased risk of spontaneous pneumothorax. (ersjournals.com)
  • Most secondary spontaneous pneumothoraces are secondary to chronic obstructive lung disease (COPD), although other classical causes of secondary spontaneous pneumothorax include tumor, sarcoidosis, tuberculosis, interstitial lung disease, cystic fibrosis, Langerhans cell histiocytosis, lymphangioleiomyomatosis, Birt-Hogg-Dube syndrome and pulmonary infections. (clinicaladvisor.com)
  • She eventually underwent resection of the left kidney mass with a partial nephrectomy and a final pathologic diagnosis of an oncocytoma, which is a typical tumor type for Birt-Hogg-Dube syndrome. (thefreelibrary.com)
  • To see if everolimus is safe and effective in people with Birt-Hogg-Dube Syndrome (BHD)-associated kidney cancer or sporadic (nonfamilial) chromophobe renal cancer. (trialbulletin.com)
  • Birt-Hogg-Dube syndrome: a novel marker of kidney neoplasia. (medscape.com)
  • Brit-Hogg-Dubé (BHD) syndrome, an autosomal dominant familial cancer, is associated with increased risk of kidney cancer. (aacrjournals.org)
  • Cancer that starts in the ureters or the renal pelvis (the part of the kidney that collects urine and drains it to the ureters) is different from renal cell cancer and is not associated with the hereditary syndromes described in this summary. (cancer.gov)
  • I have a special interest in patients with hereditary urologic cancer syndromes, including von Hipple-Lindau, Birt-Hogg-Dube, hereditary papillary kidney cancer, and hereditary leiomyomatosis and renal cell cancer. (mskcc.org)
  • Birt-Hogg-Dube Syndrome Caused by a Novel Mutation in the FLCL Gene. (thefreelibrary.com)
  • It is not necessary that all patients having Birt-Hogg-Dube Syndrome will have an abnormal BHD gene. (uafp.org)
  • After the identification of a BHD gene, conducting a gene test will be the best way of confirming Birt-Hogg-Dube Syndrome. (uafp.org)
  • [ 2 ] The defective gene in BHD syndrome has been identified and is suspected of being a tumor suppressor gene. (medscape.com)
  • This gene is located within the Smith-Magenis syndrome region on chromosome 17. (genecards.org)
  • We have also recently identified a new phenotype associated with complete deletion of the VHL gene and are studying the somatic events associated with the development of cancer in this syndrome. (cancer.gov)
  • Tumour predisposition syndromes in which cancers arise at an accelerated rate and in different organs - the equivalent of a sensitized background - provide a unique opportunity to examine how gene-environment interactions influence cancer risk when the initiating genetic defect responsible for malignancy is known. (nature.com)
  • Cowden disease (CD), or multiple hamartoma and neoplasia syndrome, is a rare autosomal dominant syndrome due to mutation of the PTEN gene. (visualdx.com)
  • Individuals and biologic family members with a suspected or an established diagnosis of an inherited urologic malignancy in which the disease gene is not yet known, specifically hereditary forms of Type II papillary renal cancer, clear cell renal carcinoma, renal oncocytoma, chromophobe renal carcinoma or Birt Hogg Dube syndrome. (clinicaltrials.gov)
  • Diseases associated with FNIP2 include Familial Renal Oncocytoma and Birt-Hogg-Dube Syndrome . (genecards.org)
  • To date, a number of renal tumour related syndromes have been described. (bmj.com)
  • Several autosomal dominant inherited tumour syndromes demonstrate prominent features in the oral and maxillofacial region. (springermedizin.de)
  • Although multiple organ systems are frequently involved, the target organs more frequently affected are the skin (nevoid basal cell carcinoma syndrome, Brooke-Spiegler syndrome, Birt-Hogg-Dube syndrome and Muir-Torre syndrome), gastrointestinal tract (Peutz-Jegher syndrome and Gardner syndrome) or endocrine system (multiple endocrine neoplasia type 2b and hyperparathyroidism-jaw tumour syndrome). (springermedizin.de)
  • In this study, we examined whether HIF is involved in tumour formation of RCC in Birt-Hogg-Dube syndrome. (dundee.ac.uk)
  • For this, we analysed a Birt-Hogg-Dube patient-derived renal tumour cell line (UOK257) that is devoid of the Birt-Hogg-Dube protein (BHD) and observed high levels of HIF activity. (dundee.ac.uk)
  • The prevalence of Birt-Hogg-Dube syndrome is estimated at 1:200,000, and tuberous sclerosis 1:11,300 -25,000, sporadic lymphangioleiomyomatosis (LAM) affects around 1:125,000 - 500,000 adult women in Europe. (blueprintgenetics.com)
  • Spontaneous pneumothoraces have also been described in inherited disorders such as α 1 -antitrypsin deficiency, Marfans syndrome, Ehlers-Danlos syndrome, tuberous sclerosis, cystic fibrosis and Birt-Hogg-Dube (BHD) syndrome. (ersjournals.com)
  • Birt-Hogg-Dubé syndrome initially diagnosed as tuberous sclerosis complex. (nih.gov)
  • however, multiple and bilateral (affecting both kidneys) renal oncocytomas sometimes occur in people with certain genetic syndromes such as tuberous sclerosis complex and Birt-Hogg-Dube syndrome. (malacards.org)
  • In some syndromes, the disease is multisystem with skin index lesions presenting in the head and neck (Cowden syndrome and tuberous sclerosis complex). (springermedizin.de)
  • Given the varied expression of the syndrome, patients often may be undiagnosed. (statpearls.com)
  • Patients who have Birt-Hogg-Dube Syndrome will have to be through with physical as well as mental examinations. (uafp.org)
  • Patients with renal cell carcinoma (RCC) associated with Birt-Hogg-Dube Syndrome (BHD). (trialbulletin.com)
  • Journal Article] Pulmonary Neoplasms in Patients with Birt-Hogg-Dubé Syndrome: Histopathological Features and Genetic and Somatic Events. (nii.ac.jp)
  • Patients may present with signs and/or symptoms of distant metastatic disease, humoral or paraneoplastic syndromes, or incidentally when a mass is discovered by radiographic imaging (usually performed for an unrelated issue). (endocrinologyadvisor.com)
  • Rarely, RCC is discovered by screening in patients at high risk for disease (particularly in familial/genetic syndromes). (endocrinologyadvisor.com)
  • The Cowden syndrome: a clinical and genetic study in 21 patients. (springermedizin.de)
  • It is important to consider these diagnoses in the evaluation of patients with fibromas and other manifestations, since there are systemic and potentially life-threatening associations in Birt-Hogg-Dubé and Cowden disease. (psychiatryadvisor.com)
  • Obese patients and patients with polycystic ovary syndrome (PCOS) have type-A insulin resistance. (scielo.br)
  • Professionals who work in the Familial Cancer Program include specialists in genetic counseling and doctors with expertise in hereditary cancer syndromes. (mayoclinic.org)
  • Familial cancer syndromes are rare, and it's important to seek evaluation from doctors familiar with your cancer. (mayoclinic.org)
  • Mayo Clinic's highly trained specialists are experienced in the diagnosis and treatment of all familial cancer syndromes. (mayoclinic.org)
  • The Familial Cancer Program at Mayo Clinic involves specialists in medical genetics , doctors with expertise in hereditary cancer syndromes and other professionals who work together to determine the most appropriate treatment plan for you. (mayoclinic.org)
  • The Familial Cancer Program also cares for children with hereditary cancer syndromes. (mayoclinic.org)
  • Hereditary syndromes are sometimes called genetic syndromes or family cancer syndromes . (cancer.gov)
  • In addition, PRCC has also been described in other distinct familial cancer syndromes, which are not mapped to 7q, suggesting the existence of multiple PRCC related genes. (bmj.com)
  • Clinically, renal cell carcinoma is a component of several familial renal cancer syndromes. (hstalks.com)
  • MIM 135150) also known as Hornstein-Knickenberg syndrome, is an autosomal dominant genodermatosis. (ctgt.net)
  • For more information on Cowden syndrome, see OMIM . (visualdx.com)
  • The lesions that form in this syndrome are popular, small, and painless in nature which gradually are observed in the scalp, neck, face, back, and chest. (uafp.org)
  • There is not directed medical treatment given for the lesions in Birt-Hogg-Dube Syndrome. (uafp.org)
  • In order to identify the genetic locus for BHD syndrome, genetic linkage analysis was performed in families recruited on the basis of BHD cutaneous lesions. (wikipedia.org)
  • The affected family members had neither the typical skin lesions nor the renal neoplasia characteristic of BHD syndrome. (ersjournals.com)
  • This work suggests that targeting glycolytic metabolism may be used therapeutically to treat Birt-Hogg-Dube-associated renal lesions. (dundee.ac.uk)
  • When these syndromes are present at diagnosis it usually reflects advanced disease and correlates with a very poor prognosis. (endocrinologyadvisor.com)
  • The pertinent features of these syndromes are reviewed with a systems-based approach, emphasising their clinical impact and diagnosis. (springermedizin.de)
  • The European Birt-Hogg-Dubé consortium proposed guidelines for the diagnosis as fulfilling either one major or two minor criteria. (crutchfielddermatology.com)
  • Pilarski R, Burt R, Kohlman W, Pho L, Shannon KM, Swisher E. Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria. (springermedizin.de)
  • Birt-Hogg-Dube Syndrome is an autosomal dominant inherited disease that is rare in nature and causes the growth of non-cancerous, benign tumours on the face, upper body, and the face. (uafp.org)
  • Birt-Hogg-Dube Syndrome was first discovered by Canadian physicians named Dube, Hogg, and Birt in the year 1977. (uafp.org)
  • In 1977, Birt, Hogg and Dubé investigated members of a Canadian family who presented with thyroid cancers and found that some members of the kindred had fibrofollicular skin tumours that occurred in an inherited autosomal dominant pattern. (bmj.com)
  • Cowden syndrome. (springermedizin.de)
  • Cowden syndrome with a novel germline PTEN mutation and an unusual clinical course. (springermedizin.de)
  • Ngeow J, Mester J, Rybicki LA, Ni Y, Milas M, Eng C. Incidence and clinical characteristics of thyroid cancer in prospective series of individuals with Cowden and Cowden-like syndrome characterized by germline PTEN, SDH, or KLLN alterations. (springermedizin.de)
  • Although histologically distinct from conventional soft fibromas, hamartomatous soft fibromas are found in Birt-Hogg-Dubé syndrome (perifollicular fibromas) and Cowden disease (sclerotic fibromas). (psychiatryadvisor.com)
  • We found nuclear localization of HIF1 alpha and increased expression of VEGF, BNIP3 and GLUT1 in a chromophobe carcinoma from a Birt-Hogg-Dube patient. (dundee.ac.uk)
  • Birt-Hogg Dubé syndrome is an autosomal dominant disease with variable clinical expression. (nih.gov)
  • Birt-Hogg-Dube (BHD) syndrome is a very rare genetic condition that affects the skin and lungs. (cancer.ca)
  • Oral oestrogen therapy in pituitary-dependent cushings syndrome is characterized by papillary architecture is haphazard, mimicking invasion into the lungs, or bone paraneoplasia emetic medication. (healthimperatives.org)
  • The key elements of the history include questions that may elucidate key features of either locally invasive disease, humoral or paraneoplastic syndromes, distant metastatic disease, or venous obstruction. (endocrinologyadvisor.com)
  • Birt-Hogg-Dubé (BHD) syndrome is a rare autosomal dominant genodermatosis known to affect approximately 200 families worldwide. (crutchfielddermatology.com)
  • 1 , 2 Birt et al commented that the histopathological features of the skin tumours described by Hornstein and Knickenberg were different from those that they had characterised. (bmj.com)
  • Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dube syndrome ," American Journal of Human Genetics, vol. (thefreedictionary.com)
  • To our knowledge, this mutation has not been previously described and there is no previous report of antenatal detection of the pulmonary abnormality in BHD syndrome. (ersjournals.com)