Antley bixler syndrome phenotype. Medical search

The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.

A characteristic symptom complex.

A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.

Congenital structural abnormalities of the UPPER EXTREMITY.

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)

An inherited condition characterized by multiple malformations of CARTILAGE and bone including CRANIOSYNOSTOSIS; midface hypoplasia; radiohumeral SYNOSTOSIS; CHOANAL ATRESIA; femoral bowing; neonatal fractures; and multiple joint CONTRACTURES and, occasionally, urogenital, gastrointestinal or cardiac defects. In utero exposure to FLUCONAZOLE, as well as mutations in at least two separate genes are associated with this condition - POR (encoding P450 (cytochrome) oxidoreductase (NADPH-FERRIHEMOPROTEIN REDUCTASE)) and FGFR2 (encoding FIBROBLAST GROWTH FACTOR RECEPTOR 2).

Congenital structural deformities of the upper and lower extremities collectively or unspecified.

The possession of a third chromosome of any one type in an otherwise diploid cell.

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)

Mapping of the KARYOTYPE of a cell.

Actual loss of portion of a chromosome.

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.

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.

Any method used for determining the location of and relative distances between genes on a chromosome.

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.

The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.

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.

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)

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.

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.

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.

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.

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.

An episode of MYOCARDIAL ISCHEMIA that generally lasts longer than a transient anginal episode that ultimately may lead to MYOCARDIAL INFARCTION.

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.

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 sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.

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 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.

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)

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.

The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.

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 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.).

Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.

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 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)

Biochemical identification of mutational changes in a nucleotide sequence.

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.

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)

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 species of ARTERIVIRUS causing reproductive and respiratory disease in pigs. The European strain is called Lelystad virus. Airborne transmission is common.

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.

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 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.

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 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.

Cells propagated in vitro in special media conducive to their growth. Cultured cells are used to study developmental, morphologic, metabolic, physiologic, and genetic processes, among others.

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)

A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus.

An individual having different alleles at one or more loci regarding a specific character.

Strains of mice in which certain GENES of their GENOMES have been disrupted, or "knocked-out". To produce knockouts, using RECOMBINANT DNA technology, the normal DNA sequence of the gene being studied is altered to prevent synthesis of a normal gene product. Cloned cells in which this DNA alteration is successful are then injected into mouse EMBRYOS to produce chimeric mice. The chimeric mice are then bred to yield a strain in which all the cells of the mouse contain the disrupted gene. Knockout mice are used as EXPERIMENTAL ANIMAL MODELS for diseases (DISEASE MODELS, ANIMAL) and to clarify the functions of the genes.

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.

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 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.

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.

Progressive restriction of the developmental potential and increasing specialization of function that leads to the formation of specialized cells, tissues, and organs.

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.

Elements of limited time intervals, contributing to particular results or situations.

An individual in which both alleles at a given locus are identical.

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.

Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones.

The intracellular transfer of information (biological activation/inhibition) through a signal pathway. In each signal transduction system, an activation/inhibition signal from a biologically active molecule (hormone, neurotransmitter) is mediated via the coupling of a receptor/enzyme to a second messenger system or to an ion channel. Signal transduction plays an important role in activating cellular functions, cell differentiation, and cell proliferation. Examples of signal transduction systems are the GAMMA-AMINOBUTYRIC ACID-postsynaptic receptor-calcium ion channel system, the receptor-mediated T-cell activation pathway, and the receptor-mediated activation of phospholipases. Those coupled to membrane depolarization or intracellular release of calcium include the receptor-mediated activation of cytotoxic functions in granulocytes and the synaptic potentiation of protein kinase activation. Some signal transduction pathways may be part of larger signal transduction pathways; for example, protein kinase activation is part of the platelet activation signal pathway.

Laboratory mice that have been produced from a genetically manipulated EGG or EMBRYO, MAMMALIAN.

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.

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.

RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.

The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.

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.

Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.

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.

Congenital absence of or defects in structures of the eye; may also be hereditary.

Established cell cultures that have the potential to propagate indefinitely.

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.

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.

Genes that influence the PHENOTYPE only in the homozygous state.

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.

An infant during the first month after birth.

A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.

A test used to determine whether or not complementation (compensation in the form of dominance) will occur in a cell with a given mutant phenotype when another mutant genome, encoding the same mutant phenotype, is introduced into that cell.

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 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.

Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.

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)

The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.

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.

Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control (induction or repression) of gene action at the level of transcription or translation.

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.

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).

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.

The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION.

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.

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.

A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities.

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.

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).

Histochemical localization of immunoreactive substances using labeled antibodies as reagents.

Proteins which are found in membranes including cellular and intracellular membranes. They consist of two types, peripheral and integral proteins. They include most membrane-associated enzymes, antigenic proteins, transport proteins, and drug, hormone, and lectin receptors.

A rare complication of rheumatoid arthritis with autoimmune NEUTROPENIA; and SPLENOMEGALY.

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.

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.

A variation of the PCR technique in which cDNA is made from RNA via reverse transcription. The resultant cDNA is then amplified using standard PCR protocols.

Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control of gene action during the developmental stages of an organism.

A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.

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.

Process of classifying cells of the immune system based on structural and functional differences. The process is commonly used to analyze and sort T-lymphocytes into subsets based on CD antigens by the technique of flow cytometry.

Syndromes in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.

A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair.

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)

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.

Short sequences (generally about 10 base pairs) of DNA that are complementary to sequences of messenger RNA and allow reverse transcriptases to start copying the adjacent sequences of mRNA. Primers are used extensively in genetic and molecular biology techniques.

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 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.

Deliberate breeding of two different individuals that results in offspring that carry part of the genetic material of each parent. The parent organisms must be genetically compatible and may be from different varieties or closely related species.

Mice bearing mutant genes which are phenotypically expressed in the animals.

Alterations or deviations from normal shape or size which result in a disfigurement of the hand occurring at or before birth.

The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.

The magnitude of INBREEDING in humans.

Symptom complex due to ACTH production by non-pituitary neoplasms.

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)

Proteins found in the nucleus of a cell. Do not confuse with NUCLEOPROTEINS which are proteins conjugated with nucleic acids, that are not necessarily present in the nucleus.

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.

Genotypic differences observed among individuals in a population.

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.

The determination of the pattern of genes expressed at the level of GENETIC TRANSCRIPTION, under specific circumstances or in a specific cell.

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.

The insertion of recombinant DNA molecules from prokaryotic and/or eukaryotic sources into a replicating vehicle, such as a plasmid or virus vector, and the introduction of the resultant hybrid molecules into recipient cells without altering the viability of those cells.

The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM.

Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules.

A malabsorption syndrome resulting from extensive operative resection of the SMALL INTESTINE, the absorptive region of the GASTROINTESTINAL TRACT.

A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.

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.

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.

Technique using an instrument system for making, processing, and displaying one or more measurements on individual cells obtained from a cell suspension. Cells are usually stained with one or more fluorescent dyes specific to cell components of interest, e.g., DNA, and fluorescence of each cell is measured as it rapidly transverses the excitation beam (laser or mercury arc lamp). Fluorescence provides a quantitative measure of various biochemical and biophysical properties of the cell, as well as a basis for cell sorting. Other measurable optical parameters include light absorption and light scattering, the latter being applicable to the measurement of cell size, shape, density, granularity, and stain uptake.

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.

The degree of similarity between sequences of amino acids. This information is useful for the analyzing genetic relatedness of proteins and species.

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 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.

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.

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).

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.

Theoretical representations that simulate the behavior or activity of genetic processes or phenomena. They include the use of mathematical equations, computers, and other electronic equipment.

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.

Deletion of sequences of nucleic acids from the genetic material of an individual.

A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.

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.

The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.

A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.

Syndrome characterized by the triad of oculocutaneous albinism (ALBINISM, OCULOCUTANEOUS); PLATELET STORAGE POOL DEFICIENCY; and lysosomal accumulation of ceroid lipofuscin.

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.)

Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.

Theoretical representations that simulate the behavior or activity of biological processes or diseases. For disease models in living animals, DISEASE MODELS, ANIMAL is available. Biological models include the use of mathematical equations, computers, and other electronic equipment.

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 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.

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.

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)

Transport proteins that carry specific substances in the blood or across cell membranes.

Identification of proteins or peptides that have been electrophoretically separated by blot transferring from the electrophoresis gel to strips of nitrocellulose paper, followed by labeling with antibody probes.

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.

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.

Mandibulofacial dysostosis with congenital eyelid dermoids.

The fission of a CELL. It includes CYTOKINESIS, when the CYTOPLASM of a cell is divided, and CELL NUCLEUS DIVISION.

All of the processes involved in increasing CELL NUMBER including CELL DIVISION.

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)

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.

A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY).

A type of mutation in which a number of NUCLEOTIDES deleted from or inserted into a protein coding sequence is not divisible by three, thereby causing an alteration in the READING FRAMES of the entire coding sequence downstream of the mutation. These mutations may be induced by certain types of MUTAGENS or may occur spontaneously.

Levels within a diagnostic group which are established by various measurement criteria applied to the seriousness of a patient's disorder.

The analysis of a sequence such as a region of a chromosome, a haplotype, a gene, or an allele for its involvement in controlling the phenotype of a specific trait, metabolic pathway, or disease.

Proteins found in any species of bacterium.

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.

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.

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 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.

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.

Mutagenesis where the mutation is caused by the introduction of foreign DNA sequences into a gene or extragenic sequence. This may occur spontaneously in vivo or be experimentally induced in vivo or in vitro. Proviral DNA insertions into or adjacent to a cellular proto-oncogene can interrupt GENETIC TRANSLATION of the coding sequences or interfere with recognition of regulatory elements and cause unregulated expression of the proto-oncogene resulting in tumor formation.

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)

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).

Studies in which subsets of a defined population are identified. These groups may or may not be exposed to factors hypothesized to influence the probability of the occurrence of a particular disease or other outcome. Cohorts are defined populations which, as a whole, are followed in an attempt to determine distinguishing subgroup characteristics.

The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.

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)

Process of generating a genetic MUTATION. It may occur spontaneously or be induced by MUTAGENS.

Linear POLYPEPTIDES that are synthesized on RIBOSOMES and may be further modified, crosslinked, cleaved, or assembled into complex proteins with several subunits. The specific sequence of AMINO ACIDS determines the shape the polypeptide will take, during PROTEIN FOLDING, and the function of the protein.

An amino acid-specifying codon that has been converted to a stop codon (CODON, TERMINATOR) by mutation. Its occurance is abnormal causing premature termination of protein translation and results in production of truncated and non-functional proteins. A nonsense mutation is one that converts an amino acid-specific codon to a stop codon.

A species of DNA virus, in the genus WHISPOVIRUS, infecting PENAEID SHRIMP.

Proteins encoded by homeobox genes (GENES, HOMEOBOX) that exhibit structural similarity to certain prokaryotic and eukaryotic DNA-binding proteins. Homeodomain proteins are involved in the control of gene expression during morphogenesis and development (GENE EXPRESSION REGULATION, DEVELOPMENTAL).

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.

A group of hereditary disorders involving tissues and structures derived from the embryonic ectoderm. They are characterized by the presence of abnormalities at birth and involvement of both the epidermis and skin appendages. They are generally nonprogressive and diffuse. Various forms exist, including anhidrotic and hidrotic dysplasias, FOCAL DERMAL HYPOPLASIA, and aplasia cutis congenita.

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 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 species of the genus SACCHAROMYCES, family Saccharomycetaceae, order Saccharomycetales, known as "baker's" or "brewer's" yeast. The dried form is used as a dietary supplement.

Cholesterol metabolism: the main pathway acting downstream of cytochrome P450 oxidoreductase in skeletal development of the limb. (1/9)

(+info)

Ambiguous genitalia, impaired steroidogenesis, and Antley-Bixler syndrome in a patient with P450 oxidoreductase deficiency. (2/9)

Cytochrome P450 oxidoreductase deficiency is a recently established autosomal recessive disease characterised by ambiguous genitalia, impaired steroidogenesis, and skeletal malformations, referred to as Antley-Bixler syndrome. Clinical manifestations in affected patients are highly variable. We report on a girl with P450 oxidoreductase deficiency who presented with virilisation at birth. There was transient maternal virilisation during pregnancy as well. She was initially diagnosed with congenital adrenal hyperplasia caused by 21-hydroxylase deficiency and/or aromatase deficiency. At 1 year of age, skeletal abnormalities suggestive of Antley-Bixler syndrome were detected. Molecular analysis of the fibroblast growth factor receptor 2 (FGFR2) gene was normal but POR gene analysis showed that she was homozygous for an R457H missense mutation. The diagnosis, P450 oxidoreductase deficiency, was confirmed. Results of her endocrine studies and urinary steroid profiling are also presented. (+info)

Impaired hepatic drug and steroid metabolism in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency. (3/9)

(+info)

Mouse knockout of the cholesterogenic cytochrome P450 lanosterol 14alpha-demethylase (Cyp51) resembles Antley-Bixler syndrome. (4/9)

(+info)

A rare cause of congenital adrenal hyperplasia: Antley-Bixler syndrome due to POR deficiency. (5/9)

Cytochrome P450 oxidoreductase (POR) deficiency is a recently discovered new variant of congenital adrenal hyperplasia. Distinctive features of POR deficiency are the presence of disorders of sexual development in both sexes, glucocorticoid deficiency and skeletal malformations similar to those observed in the Antley-Bixler syndrome. (+info)

Altered human CYP3A4 activity caused by Antley-Bixler syndrome-related variants of NADPH-cytochrome P450 oxidoreductase measured in a robust in vitro system. (6/9)

(+info)

Backdoor pathway for dihydrotestosterone biosynthesis: implications for normal and abnormal human sex development. (7/9)

(+info)

46,XX DSD and Antley-Bixler syndrome due to novel mutations in the cytochrome P450 oxidoreductase gene. (8/9)

(+info)

... and the Antley-Bixler syndrome phenotype". American Journal of Medical Genetics Part A. 129A (2): 105-12. doi:10.1002/ajmg.a. ... and the Antley-Bixler skeletal malformation syndrome (ABS) to mildly affected individuals with polycystic ovary syndrome-like ... "Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered ... "Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome". Nature Genetics. 36 (3 ...

https://en.wikipedia.org/wiki/Cytochrome_P450_reductase

There are two distinct genetic mutations associated with the Antley-Bixler syndrome phenotype, which suggests the disorder may ... Antley-Bixler syndrome is named after Drs. Ray M. Antley (b. 1936) and David Bixler (b. 1929), who first described the disorder ... rarediseases.org/rare-diseases/antley-bixler-syndrome/ GeneReviews/NIH/NCBI/UW entry on FGFR-Related Craniosynostosis Syndromes ... Antley-Bixler syndrome is inherited in an autosomal recessive pattern, which means the defective gene is located on an autosome ...

https://en.wikipedia.org/wiki/Antley–Bixler_syndrome

... and Antley-Bixler skeletal malformation syndrome (ABS), while symptoms of mild forms include polycystic ovary syndrome in women ... Expanding the PORD phenotype". The Journal of Clinical Endocrinology and Metabolism. 105 (4): e1272-e1290. doi:10.1210/clinem/ ...

https://en.wikipedia.org/wiki/Cytochrome_P450_oxidoreductase_deficiency

... these include the Jackson-Weiss syndrome (proline to arg substitution at amino acid 252), Antley-Bixler syndrome (isoleucine-to ... dual effects that may lead to the assumption of a malignant phenotype by these cells. The 10 human rhabdomyosarcoma tumor ... mutation the same as the one for the Antley-Bixler syndrome viz., I300T). Somatic mutations and epigenetic changes in the ... of the cases of Kallmann syndrome. This syndrome is a form of hypogonadotropic hypogonadism associated in a varying percentage ...

https://en.wikipedia.org/wiki/Fibroblast_growth_factor_receptor_1

Antley-Bixler syndrome, characterized by trapezoidal, craniofacial and skeletal synostosis, plus camptodactyly), inherited as a ... Marie PJ, Debiais F, Haÿ E (2003). "Regulation of human cranial osteoblast phenotype by FGF-2, FGFR-2 and BMP-2 signaling". ... Crouzon syndrome, Pfeiffer syndrome, Jackson-Weiss syndrome)". Orr-Urtreger A, Bedford MT, Burakova T, Arman E, Zimmer Y, Yayon ... This mechanism is found in patients with Crouzon and Pfeiffer syndrome. The second, which is associated with Apert syndrome is ...

https://en.wikipedia.org/wiki/Fibroblast_growth_factor_receptor_2

AT3 Antley-Bixler syndrome; 207410; FGFR2 Antley-Bixler syndrome-like with disordered steroidogenesis; 201750; POR Anxiety- ... GCNT2 Adult i phenotype without cataract; 110800; GCNT2 ADULT syndrome; 103285; TP63 Advanced sleep phase syndrome, familial; ... AKAP9 Long QT syndrome-3; 603830; SCN5A Long QT syndrome-4; 600919; ANK2 Long QT syndrome-7; 170390; KCNJ2 Long QT syndrome-9; ... TGFBR2 Long QT syndrome 12; 612955; SNT1 Long QT syndrome 13; 613485; KCNJ5 Long QT syndrome-1; 192500; KCNQ1 Long QT syndrome- ...

https://en.wikipedia.org/wiki/List_of_OMIM_disorder_codes

FGFR1 (Pfeiffer syndrome, KAL2 Kallmann syndrome). *FGFR2 (Apert syndrome, Antley-Bixler syndrome, Pfeiffer syndrome, Crouzon ... polyposis syndrome but are actually affected with Cowden syndrome or other phenotypes of the PTEN hamartoma tumor syndrome. ... Juvenile polyposis syndrome is a syndrome characterized by the appearance of multiple juvenile polyps in the gastrointestinal ... Two genes associated with juvenile polyposis syndrome are BMPR1A and SMAD4.[1] Gene testing may be useful when trying to ...

https://en.wikipedia.org/wiki/Juvenile_polyposis_syndrome

FGFR1 (Pfeiffer syndrome, KAL2 Kallmann syndrome). *FGFR2 (Apert syndrome, Antley-Bixler syndrome, Pfeiffer syndrome, Crouzon ... and Roberts syndrome. Certain other phenotypes, such as wet versus dry earwax, are also determined in an autosomal recessive ... Rapp-Hodgkin syndrome/Hay-Wells syndrome/Ectrodactyly-ectodermal dysplasia-cleft syndrome 3/Limb-mammary syndrome/OFC8 ... In addition, although these conditions do not alter fertility per se, individuals with Rett syndrome or Aicardi syndrome rarely ...

https://en.wikipedia.org/wiki/Genetic_defects

Maffucci syndrome. Growth factor receptor. FGFR2:. *Antley-Bixler syndrome. FGFR3:. *Achondroplasia *Hypochondroplasia ... In 2006, a recessive form called "Type VII" was discovered (phenotype severe to lethal). Thus far it seems to be limited to a ... Among some of the most common alternatives are Ekman-Lobstein syndrome, Vrolik syndrome, and the colloquial glass-bone disease ... Brittle bone disease,[1] Lobstein syndrome,[2] fragilitas ossium,[1] Vrolik disease,[1] osteopsathyrosis, Porak disease, ...

https://en.wikipedia.org/wiki/Osteogenesis_imperfecta

Antley-Bixler syndrome with disordered steroidogenesis. *Antley-Bixler syndrome-like phenotype with disordered steroidogenesis ... Some researchers use the name Antley-Bixler syndrome to describe these features, whether they are caused by mutations in the ... Others use the name Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis for cases caused by POR gene ... Arlt W. P450 oxidoreductase deficiency and Antley-Bixler syndrome. Rev Endocr Metab Disord. 2007 Dec;8(4):301-7. Review. ...

https://medlineplus.gov/genetics/condition/cytochrome-p450-oxidoreductase-deficiency/

... two with sporadic Pfeiffer syndrome; and one with Antley-Bixler syndrome. The Crouzon phenotype was subdivided into three ... The phenotypes indicated the following syndromes: 12 patients with unrelated Crouzon syndrome, including nine sporadic and ... Conclusions. The phenotypes of patients with craniosynostoses unrelated to Apert syndrome proved quite variable, even in cases ... The phenotypes of these seven cases were three of regular Crouzon, two of unspecified craniosynostosis, and one each of top ...

https://thejns.org/search?authf=Kanno%2C+Hiroshi&f_0=author&pageSize=10&q_0=Kenichi+Sato&sort=relevance

... resources and questions answered by our Genetic and Rare Diseases Information Specialists for Antley Bixler syndrome ... This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms ... Antley-Bixler Syndrome With Genital Anomalies and Disordered Steriodogenesis. Antley-Bixler Syndrome Without Genital Anomalies ... Antley Bixler Syndrome. NORD. 2007; http://rarediseases.org/rare-diseases/antley-bixler-syndrome/. ...

https://rarediseases.info.nih.gov/diseases/5826/index

... also known as Antley-Bixler syndrome-like phenotype with disordered steroidogenesis. AHV is a rare variant of congenital ... in some cases resembling the pattern seen in patients with Antley-Bixler syndrome.. Defects in POR are a cause of isolated ...

https://www.abcam.com/cytochrome-p450-reductase-antibody-ab89622.html

Antley-bixler syndrome phenotype in three sibling fetuses.. Tzetis M, Konstantinidou A, Sofocleous C, Kosma K, Mitrakos A, ... An unusual case of Cat-Eye syndrome phenotype and extragonadal mature teratoma: review of the literature. ... Neuroleptic Malignant Syndrome after whithdrawal of anticholinergic agents].. Kosma K, Roumbos B, Mamali M, Xipas K, Kolovou K ... Novel and known nephrin gene (NPHS1) mutations in two Greek cases with congenital nephrotic syndrome including a complex ...

https://www.ncbi.nlm.nih.gov/pubmed?cmd=search&term=Kosma+K%5Bau%5D&dispmax=50

https://en.wikipedia.org/wiki/Antley%E2%80%93Bixler_syndrome

https://en.wikipedia.org/wiki/Cytochrome_P450_reductase

This strain may be useful for studying Antley-Bixler syndrome (ABS). ... This strain may be useful for studying Antley-Bixler syndrome (ABS). Donating Investigator. Simon Horvat, University of ... Mammalian Phenotype Terms by Genotype. The following phenotype information is associated with a similar, but not exact match to ... Mouse knockout of the cholesterogenic cytochrome P450 lanosterol 14alpha-demethylase (Cyp51) resembles Antley-Bixler syndrome. ...

https://www.jax.org/strain/021790

... the enzyme most closely associated with the hormonal phenotype - provided an excellent genotype/phenotype correlation. Our ... title = "Diversity and function of mutations in P450 oxidoreductase in patients with Antley-Bixler syndrome and disordered ... T1 - Diversity and function of mutations in P450 oxidoreductase in patients with Antley-Bixler syndrome and disordered ... Diversity and function of mutations in P450 oxidoreductase in patients with Antley-Bixler syndrome and disordered ...

https://jhu.pure.elsevier.com/en/publications/diversity-and-function-of-mutations-in-p450-oxidoreductase-in-pat-5

Antley-Bixler syndrome has four phenotypes, some of which are associated with FGFR mutations and characterized by ... A) Antley-Bixler syndrome. B) Apert syndrome. C) Crouzon syndrome. D) Pfeiffer syndrome. E) Saethre-Chotzen syndrome ... A) Apert syndrome. (B) Carpenter syndrome. (C) Crouzon syndrome. (D) Nager syndrome. (E) Pfeiffer syndrome ... A) Apert syndrome. (B) Carpenter syndrome. (C) Crouzon syndrome. (D) Nager syndrome. (E) Pfeiffer syndrome ...

https://www.brainscape.com/flashcards/craniofacial-5496886/packs/8232926

Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. Nat Genet. 2004 Mar. 36(3 ... Two prevalent CYP17 mutations and genotype-phenotype correlations in 24 Brazilian patients with 17-hydroxylase deficiency. J ... Mantero F, Opocher G, Rocco S. Long-term treatment of mineralocorticoid excess syndromes. Steroids. 1995 Jan. 60(1):81-6. [ ... implications for adrenarche and the polycystic ovary syndrome. Proc Natl Acad Sci U S A. 1995 Nov 7. 92(23):10619-23. [Medline] ...

https://emedicine.medscape.com/article/117140-treatment

Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. Nat Genet. 2004 Mar. 36(3 ... Two prevalent CYP17 mutations and genotype-phenotype correlations in 24 Brazilian patients with 17-hydroxylase deficiency. J ... vanishing testis syndrome, or orchiectomy; Klinefelter syndrome; chemotherapy; or toxic damage from alcohol or heavy metals. ... Mantero F, Opocher G, Rocco S. Long-term treatment of mineralocorticoid excess syndromes. Steroids. 1995 Jan. 60(1):81-6. [ ...

https://emedicine.medscape.com/article/117140-medication

... prenatal period in light of the severe outcome and as an alternative diagnosis to Antley-Bixler or Shprintzen-Goldberg syndrome ... Since the phenotype of the Nias patients differs from the Larsen-like syndrome described for patients with mutation p.( ... This syndrome should be considered in the ... Phenotypes Go to the top of the page Help Find tests for this ...

https://www.ncbi.nlm.nih.gov/gene/26229

... human POR deficiency as a disorder of steroidogenesis associated with the Antley-Bixler skeletal malformation syndrome and ... correlated with clinical phenotypes. The POR sequence in 842 normal individuals revealed many polymorphisms; amino acid ... did not correlate with patient phenotypes; assays based on the 17,20 lyase activity of P450c17 (CYP17) ...

https://stke.sciencemag.org/content/5/247/pt11

Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia. Kelley, R. I., Kratz, L. E., ... mutations in two patients with achondroplasia phenotype (American Journal of Medical Genetics (2001) 104 (277-281)). Kelley, R ... Identifying Smith-Lemli-Opitz syndrome in conjunction with prenatal screening for Down syndrome. Craig, W. Y., Haddow, J. E., ... Clinical variability in Rett syndrome. Naidu, S., Bibat, G., Kratz, L., Kelley, R. I., Pevsner, J., Hoffman, E., Cuffari, C., ...

https://jhu.pure.elsevier.com/en/persons/lisa-kratz/publications/?type=%2Fdk%2Fatira%2Fpure%2Fresearchoutput%2Fresearchoutputtypes%2Fcontributiontojournal%2Farticle

... associated with Antley-Bixler syndrome (Antley and Bixler, 1975) to polycystic ovary syndrome (Miller, 2004). In light of the ... POR deficiency (Online Mendelian Inheritance in Man number 201750) encompasses a number of aberrant steroidogenic phenotypes ... 2006) Diminished FAD binding in the Y459H and V492E Antley-Bixler syndrome mutants of human cytochrome P450 reductase. J Biol ... 2004) Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. Nat Genet 36: 228- ...

http://dmd.aspetjournals.org/content/38/2/332

Antley-Bixler Syndrome Phenotype. 1 , 2 Antley-Bixler Syndrome with Disordered Steroidogenesis. 1 , 1 ... ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS. 1 , 1 ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ...

https://pharos.nih.gov/idg/targets?facet=PathwayCommons%3A+humancyc+Pathway/http%3A%2F%2Fpathwaycommons.org%2Fpc2%2FPathway_ad005ad7d8bc428a321e097e5ec8b9ed

Antley-Bixler Syndrome Phenotype Bone and Bones Chromosomes, Human, Pair 7 Congenital Hypothyroidism ...

https://keio.pure.elsevier.com/en/persons/tomonobu-hasegawa/fingerprints/?sortBy=alphabetically

Antley-Bixler Syndrome Phenotype 10. Performance of the Real-Q EBV Quantification Kit for Epstein-Barr Virus DNA Quantification ... A Case of Antley-Bixler Syndrome With a Novel Likely Pathogenic Variant (c.529G>C) in the POR Gene ... Alport syndrome (ATS) is an inherited glomerular disease caused by mutations in one of the type IV collagen novel chains (α3, ... This paper reports the first Korean case of a 52-year-old female patient with serologic weak D phenotype and weak D type 33 (c. ...

https://search.bvsalud.org/gim/?lang=en&q=au:Jong-Eun+PARK

antley-bixler syndrome 10.3. CYP17A1 CYP19A1 50. transsexualism 10.3. AR CYP17A1 CYP19A1 ... Affiliated tissues include testis, ovary and testes, and related phenotypes are Decreased caspase 3/7 activity and cellular ... chondrodysplasia-pseudohermaphroditism syndrome 11.9. 29. male pseudohermaphroditism intellectual disability syndrome, verloes ... aromatase excess syndrome 10.8. 37. adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency ...

https://www.malacards.org/card/pseudohermaphroditism

Full text: Available Index: LILACS (Americas) Main subject: NADPH-Ferrihemoprotein Reductase / Antley-Bixler Syndrome Phenotype ... Full text: Available Index: LILACS (Americas) Main subject: NADPH-Ferrihemoprotein Reductase / Antley-Bixler Syndrome Phenotype ... Child , Female , Humans , Antley-Bixler Syndrome Phenotype/genetics , /genetics , Heterozygote , Mutation/genetics , NADPH- ... 46,XX DSD and Antley-Bixler syndrome due to novel mutations in the cytochrome P450 oxidoreductase gene / DDS 46,XX e síndrome ...

https://search.bvsalud.org/gim/resource/en/lil-660270

Antley-Bixler Syndrome Phenotype Entry term(s). Antley Bixler Syndrome Phenotype Phenotype, Antley-Bixler Syndrome Syndrome ... Phenotype, Antley-Bixler Syndrome. Syndrome Phenotype, Antley-Bixler. Syndrome, Antley-Bixler. Syndrome, Trapezoidocephaly- ... Antley Bixler Syndrome. Antley Bixler Syndrome Like Phenotype With Disordered Steroidogenesis. Antley Bixler Syndrome Phenotype ... Antley-Bixler Syndrome, Autosomal Dominant Entry term(s). Antley Bixler Syndrome Antley Bixler Syndrome, Autosomal Dominant ...

https://decs.bvsalud.org/en/ths/resource/?id=53063&filter=&q=%E2%8C%A9_another=fr

Clinical features of 22q11.2 deletion syndrome related to hearing and communication. Suzuki, N., Kanzaki, S., Suzuki, T., Ogawa ... Clinical and genetic characteristics of 10 Japanese patients with PROM1-associated retinal disorder: A report of the phenotype ... Identification of Genotype-phenotype Association. Japan Eye Genetics Consortium, 2020 Dec 1, In: Scientific reports. 10, 1, ...

https://keio.pure.elsevier.com/en/organisations/1500-school-of-medicine/publications/?type=%2Fdk%2Fatira%2Fpure%2Fresearchoutput%2Fresearchoutputtypes%2Fcontributiontojournal%2Farticle&page=8

keywords = "Animals, Antley-Bixler Syndrome Phenotype, Bone and Bones, Cholesterol, Chondrogenesis, Embryo, Mammalian, ... Point mutations in POR have been found recently in patients with Antley-Bixler-like syndrome, which includes limb skeletal ... Point mutations in POR have been found recently in patients with Antley-Bixler-like syndrome, which includes limb skeletal ... Point mutations in POR have been found recently in patients with Antley-Bixler-like syndrome, which includes limb skeletal ...

https://abdn.pure.elsevier.com/en/publications/cholesterol-metabolism-the-main-pathway-acting-downstream-of-cyto

Antley-Bixler Syndrome Phenotype 6.53. × References/Inference Genes * References * Inference genes * 16906539 ... ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS 7.08. × References/Inference Genes ...

https://selfdecode.com/chemical/benzphetamine/

... of the human cytochrome P450 reductase A287P variant is the major contributor to its Antley-Bixler syndrome-like phenotype. ... Altered Human CYP3A4 Activity Caused by Antley-Bixler Syndrome-Related Variants of NADPH-Cytochrome P450 Oxidoreductase ... Baptista, P. M. R. V., 1 Jan 2013, In : Diabetes, Metabolic Syndrome and Obesity: Targets and Therapy. 6, NA, p. 241-245. ...

https://novaresearch.unl.pt/en/organisations/centro-de-investiga%C3%A7%C3%A3o-em-gen%C3%A9tica-molecular-humana-cigmh/publications/?type=%2Fdk%2Fatira%2Fpure%2Fresearchoutput%2Fresearchoutputtypes%2Fcontributiontojournal%2Farticle

Antley-Bixler Syndrome Phenotype * Mutation * Cytochrome P-450 Enzyme System * Oxidoreductases STRUCTURAL/FUNCTIONAL MODULARITY ...

https://scholars.uthscsa.edu/en/persons/linda-j-roman

Antley-Bixler Syndrome Phenotype. 1. + + 193. Fissure in Ano. 1. + + 194. Mandibular Neoplasms. 1. + + ...

https://lookfordiagnosis.com/results.php?symptoms=sex+ratio&lang=1&parent=%2F&mode=F

... of the human cytochrome P450 reductase A287P variant is the major contributor to its Antley-Bixler syndrome-like phenotype. ...

https://uthscsa.influuent.utsystem.edu/en/persons/linda-j-roman

A Case of Antley-Bixler Syndrome With a Novel Likely Pathogenic Variant (c.529G,C) in the POR Gene. ... Phenotype of a Patient With a 1p36.11-p35.3 Interstitial Deletion Encompassing the AHDC1. ... Real-Time PCR Kit for the Detection of Middle East Respiratory Syndrome Coronavirus RNA. ...

https://koreamed.org/articles/3039alm/37/6

Boys and girls can also present with bone malformations, in some cases resembling the pattern seen in patients with Antley-Bixler syndrome. (abcam.cn)

The severe form of cytochrome P450 oxidoreductase deficiency is sometimes called Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis. (medlineplus.gov)
Cytochrome P450 oxidoreductase deficiency Crouzon syndrome Jackson-Weiss syndrome Pfeiffer syndrome Online Mendelian Inheritance in Man (OMIM): 207410 Schinzel A, Savoldelli G, Briner J, Sigg P, Massini C (1983). (wikipedia.org)
The clinical spectrum of POR deficiency ranges from severely affected children with ambiguous genitalia, adrenal insufficiency, and the Antley-Bixler skeletal malformation syndrome (ABS) to mildly affected individuals with polycystic ovary syndrome-like features. (wikipedia.org)
Our large survey of patients with ABS shows that individuals with an ABS-like phenotype and normal steroidogenesis have FGFR mutations, whereas those with ambiguous genitalia and disordered steroidogenesis should be recognized as having a distinct new disease: POR deficiency. (elsevier.com)
Although knockout of the POR gene causes embryonic lethality in mice, we discovered human POR deficiency as a disorder of steroidogenesis associated with the Antley-Bixler skeletal malformation syndrome and found mild POR mutations in phenotypically normal adults with infertility. (sciencemag.org)
POR deficiency (Online Mendelian Inheritance in Man number 201750) encompasses a number of aberrant steroidogenic phenotypes that range widely from the birth defects (midface hypoplasia, skeletal malformations, and ambiguous genitalia) associated with Antley-Bixler syndrome ( Antley and Bixler, 1975 ) to polycystic ovary syndrome ( Miller, 2004 ). (aspetjournals.org)
In CKO limbs, expression of genes throughout the whole cholesterol biosynthetic pathway was upregulated, and cholesterol deficiency can explain most aspects of the phenotype. (elsevier.com)
This syndrome is characterized by multiple CONGENITAL ABNORMALITIES, growth deficiency, and INTELLECTUAL DISABILITY. (sickkids.ca)
The phenotypic spectrum of POR deficiency ranges from isolated steroid abnormalities to classic Antley-Bixler syndrome (ABS) in severe cases. (clinicaladvisor.com)
Its deficiency causes Antley-Bixler syndrome (ABS), and about half the patients with ABS have ambiguous genitalia and/or impaired steroidogenesis. (biomedcentral.com)
Examples of this type of disorder are Albinism , Medium-chain acyl-CoA dehydrogenase deficiency , cystic fibrosis , sickle-cell disease , Tay-Sachs disease , Niemann-Pick disease , spinal muscular atrophy , and Roberts syndrome . (wikipedia.org)

Antley-Bixler syndrome, is a rare, very severe autosomal recessive congenital disorder characterized by malformations and deformities affecting the majority of the skeleton and other areas of the body. (wikipedia.org)
Impaired post-translation modification of alpha-dystroglycan (α‎DG) is the hallmark of Walker-Warburg syndrome (WWS), a rare recessive disorder characterized by severe congenital muscular dystrophy, structural brain anomalies and eye abnormalities. (oxfordmedicine.com)
Physicians often have only partial knowledge of common congenital hand and upper extremity anomalies and their associated syndromes. (b-ok.org)
Surgeons typically find these syndromes to be abstruse and congenital hand conditions can represent an enigma even to pediatric geneticists. (b-ok.org)
This book is designed to serve as a practical, up-to-date reference that will enable practitioners and students in a variety of disciplines to easily recognize the most common congenital upper extremity anomalies and syndromes. (b-ok.org)
In total, 37 congenital upper extremity anomalies and 127 syndromes are discussed. (b-ok.org)
When my career in hand surgery was launched in Oklahoma City I was fortunate to treat a prodigious number of children with congenital hand differences and various syndromes. (b-ok.org)
ABSTRACT Objective: to know how mothers affected by the Zika virus during pregnancy became aware on the diagnosis of Congenital Zika Virus Syndrome in their child and to understand the way in which the communication of the diagnosis was transmitted. (bvsalud.org)
The research was conducted in a Specialized Rehabilitation Center in a city of Paraíba (Brazil), from June to November 2017, with 40 mothers of children with congenital Zika virus syndrome. (bvsalud.org)
Results: two thematic categories were unveiled: The discovery of Congenital Zika Virus Syndrome: period of diagnosis and maternal expectations, and How to communicate the diagnosis: implications for the discovery of Congenital Zika Virus Syndrome. (bvsalud.org)

The goal of this study was to elucidate the genotype-phenotype relationship in syndromic craniosynostoses by analyzing the mutations of the fibroblast growth factor receptor (FGFR) gene and its clinical manifestations in patients, particularly those in atypical cases. (thejns.org)
There are two distinct genetic mutations associated with the Antley-Bixler syndrome phenotype, which suggests the disorder may be genetically heterogeneous. (wikipedia.org)
Although mouse Por gene ablation causes embryonic lethality, POR missense mutations cause disordered steroidogenesis, ambiguous genitalia, and Antley-Bixler syndrome (ABS), which has also been attributed to fibroblast growth factor receptor 2 (FGFR2) mutations. (elsevier.com)
Alport syndrome (ATS) is an inherited glomerular disease caused by mutations in one of the type IV collagen novel chains (α3, α4, and α5). (bvsalud.org)
Antley-Bixler Syndrome phenotype with normal genitalia and normal steroidogenesis, and associated with autosomal dominant mutations in FGFR2, the gene for FIBROBLAST GROWTH FACTOR RECEPTOR 2. (bvsalud.org)
Point mutations in POR have been found recently in patients with Antley-Bixler-like syndrome, which includes limb skeletal defects. (elsevier.com)
Although the phenotype of POR knockout mice is an embryonic lethal, surprisingly we recently found that human POR missense mutations are responsible for a broad spectrum of human disease, ranging from a normal female phenotype with amenorrhea, to severely malformed infants with the Antley-Bixler syndrome (ABS). (grantome.com)
A large number of studies proved that mutations of functionally related genes are associated with genetic diseases characterized with overlapping phenotypes [ 1 , 2 ]. (biomedcentral.com)
Several clinical studies have reported that mutations in POR are sufficient to cause Antley-Bixler syndrome (ABS), which is characterized by skeletal malformations. (biomedcentral.com)
Legius syndrome, a member of the RASopathies, is an autosomal dominant disorder caused by inactivating mutations in the SPRED1 gene. (oxfordmedicine.com)
While mutations in the gene PTEN were also thought to have caused juvenile polyposis syndrome, it is now thought that mutations in this gene cause a similar clinical picture to juvenile polyposis syndrome but are actually affected with Cowden syndrome or other phenotypes of the PTEN hamartoma tumor syndrome . (wikipedia.org)
Strikingly, there is also large clinical variability and mutations in these genes have also been identified for other muscular dystrophy-dystroglycanopathy syndromes, which are typically milder in their phenotypic presentation. (oxfordmedicine.com)

Antley Bixler syndrome is a rare condition that is primarily characterized by craniofacial abnormalities and other skeletal problems. (nih.gov)
Inactivation of CYP51 is thought to give rise to a similar phenotype as mutation in the human gene POR (cytochrome P450 oxidoreductase) that has been associated with Antley-Bixler syndrome (ABS), characterized by skeletal, cardiac, and urogenital abnormalities. (jax.org)
123150 ]. JWS is an autosomal dominant craniosynostosis syndrome characterized by craniofacial abnormalities and abnormality of the feet: broad great toes with medial deviation and tarsal-metatarsal coalescence. (proteopedia.org)

Compound heterozygosity of a paternal submicroscopic deletion and a maternal missense mutation in POR gene: Antley-bixler syndrome phenotype in three sibling fetuses. (nih.gov)
Antley-Bixler syndrome is inherited in an autosomal recessive pattern, which means the defective gene is located on an autosome, and two copies of the gene (one inherited from each parent) are required to be born with the disorder. (wikipedia.org)
Williams syndrome is a genetic disorder characterized by the deletion of genetic material approximately 1.2 Mb from the POR gene (POR). (wikipedia.org)
These guidelines were developed as a combination of the ClinGen DEFINITIVE evidence for a causal role of the gene in the disease(a), and the Developmental Disorder Genotype-Phenotype (DDG2P) CONFIRMED DD Gene evidence level(b) (please see the original references provided below for full details). (genomicsengland.co.uk)
An important gene associated with Fgfr Craniosynostosis Syndromes is FGFR1 (Fibroblast Growth Factor Receptor 1), and among its related pathways/superpathways are Class I MHC mediated antigen processing and presentation and Akt Signaling . (malacards.org)
Novel mutation in the Delta-sterol reductase gene in three Lebanese sibs with Smith-Lemli-Opitz (RSH) syndrome. (sickkids.ca)
Finally, in boys with a persistent Müllerian duct syndrome, undetectable or very low serum AMH suggests a mutation of the AMH gene, whereas normal AMH levels orient toward a mutation of the AMH receptor. (frontiersin.org)
Based on these assumptions, a number of studies focus on developing computational frameworks for discovering disease-related gene candidates by exploiting complex associations between phenotypes and genotypes found within heterogeneous genomic datasets such as gene expression data, protein-protein interaction networks [ 5 , 6 ] and gene ontology annotations [ 7 ]. (biomedcentral.com)
For visualizing disease phenotypes, we may obtain novel insights into disease and gene relationships. (biomedcentral.com)
This third edition of Epstein's Inborn Errors of Development provides essays on pathways of development and thoughtful reviews of dysmorphic syndromes for which the causative gene has been identified. (oup.com)

Since the phenotype of the Nias patients differs from the Larsen-like syndrome described for patients with mutation p. (nih.gov)

The phenotypes of these seven cases were three of regular Crouzon, two of unspecified craniosynostosis, and one each of top Crouzon and unclassifiable cloverleaf skull malformation. (thejns.org)
The phenotypes of these patients, however, were quite variable, ranging from regular Crouzon to unclassifiable cloverleaf skull malformation. (thejns.org)
Detection of microdeletions in limb malformation syndromes: a microdeletion in thrombocytopenia-absent radius (TAR) syndrome with a unique type of inheritance resembling autosomal recessive inheritance. (isds.ch)

Indeed, patients with Antley-Bixler-like syndrome, which is characterized by craniofacial dysmorphism, premature synostoses, and disordered steroidogenesis, were shown to have such variants. (grantome.com)

The phenotypes of patients with craniosynostoses unrelated to Apert syndrome proved quite variable, even in cases in which patients demonstrated the same genotype. (thejns.org)
Assays that were based on cytochrome c, which is not a physiologic substrate for POR, correlated poorly with clinical phenotype, but assays that were based on POR's support of catalysis by P450c17 - the enzyme most closely associated with the hormonal phenotype - provided an excellent genotype/phenotype correlation. (elsevier.com)
The objective of the study was to examine such unresolved matters by detailed molecular studies and genotype-phenotype correlations. (cdc.gov)
Genotype-phenotype correlations indicated that skeletal features were definitely more severe, and adrenal dysfunction, 46,XY DSD, and pubertal failure were somewhat more severe in group B than group A, whereas 46,XX DSD and maternal virilization during pregnancy were similar between two groups. (cdc.gov)
It enables links between individual cases and publicly available genotype and phenotype resources based on a community-driven curation process that ensures a shared conceptualisation of the domain knowledge and its continuous incremental evolution. (biomedcentral.com)

Upper extremity anomalies in Pfeiffer syndrome and mutational correlations. (harvard.edu)
LADDS is an autosomal dominant syndrome characterized by aplastic/hypoplastic lacrimal and salivary glands and ducts, cup-shaped ears, hearing loss, hypodontia and enamel hypoplasia, and distal limb segments anomalies. (proteopedia.org)
IMAGe syndrome is characterized by the association of I ntrauterine growth retardation, M etaphyseal dysplasia (and short limbs), A drenal hypoplasia congenita, and Ge nital anomalies. (mendelian.co)

It results in disorders of sex development and skeletal malformations similar to Antley-Bixley syndrome . (bvsalud.org)

Fgfr Craniosynostosis Syndromes, also known as fgfr acrocephalosyndactyly , is related to beare-stevenson cutis gyrata syndrome and craniosynostosis . (malacards.org)

Pseudohermaphroditism, also known as indeterminate sex and pseudohermaphroditism , is related to leydig cell hypoplasia and denys-drash syndrome . (malacards.org)
Antley-Bixler syndrome is a very rare disorder characterised by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures. (mendelian.co)
APRS is a syndrome characterized by facio-cranio-synostosis, osseous and membranous syndactyly of the four extremities, and midface hypoplasia. (proteopedia.org)
207410 ]. A rare syndrome characterized by craniosynostosis, radiohumeral synostosis present from the perinatal period, midface hypoplasia, choanal stenosis or atresia, femoral bowing and multiple joint contractures. (proteopedia.org)

Based on the time of onset and clinical phenotype, SMA can be divided into types I - IV. (bvsalud.org)

Knowledge about the specificity of CYP17A1 activities is of importance for the development of treatments for polycystic ovary syndrome and inhibitors for prostate cancer therapy. (mdpi.com)
This should be distinguished from Polycystic Ovarian Syndrome. (clinicaladvisor.com)

Twenty patients with craniosynostoses unrelated to Apert syndrome were enrolled in this study. (thejns.org)

The treatment of Antley-Bixler syndrome is directed toward the specific symptoms that are seen in each individual. (wikipedia.org)

The Crouzon phenotype was subdivided into three clinical forms: regular, top, and bottom ones. (thejns.org)

The diagnosis of Antley-Bixler syndrome is usually made after birth (postnatally) based upon a thorough clinical evaluation and characteristic physical findings. (wikipedia.org)
In some children, a diagnosis of Antley-Bixler syndrome may be suggested before birth (prenatally) based upon test such as ultrasound. (wikipedia.org)
This syndrome should be considered in the prenatal period in light of the severe outcome and as an alternative diagnosis to Antley-Bixler or Shprintzen-Goldberg syndrome. (nih.gov)
It has been estimated that 2% of individuals with a clinical diagnosis of NF1 will have Legius syndrome. (oxfordmedicine.com)

Antley-Bixler syndrome and maternal virilization : a proposal of genetic heterogenity'Clin.Genet. (nii.ac.jp)
PURPOSE: Posterior reversible encephalopathy syndrome (PRES), defined by its clinical and imaging manifestations, is a critical maternal complication. (bvsalud.org)

We also describe the different components of the ontology, including a comprehensive and formal representation of the skeletal dysplasia domain as well as the related genotypes and phenotypes. (biomedcentral.com)

Antley-Bixler syndrome is named after Drs. Ray M. Antley (b. 1936) and David Bixler (b. 1929), who first described the disorder in a journal report from 1975. (wikipedia.org)

CS is an autosomal dominant syndrome characterized by craniosynostosis (premature fusion of the skull sutures), hypertelorism, exophthalmos and external strabismus, parrot-beaked nose, short upper lip, hypoplastic maxilla, and a relative mandibular prognathism. (proteopedia.org)
FSPC is an autosomal dominant craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, hypertelorism, maxillary retrusion, and mild intellectual disability. (proteopedia.org)

assays based on the 17,20 lyase activity of P450c17 (CYP17) correlated with clinical phenotypes. (sciencemag.org)

Phenotype grouping reflects the nature of human disease genetics. (biomedcentral.com)

A boy with conduct disorder (CD), attention deficit hyperactivity disorder (ADHD), borderline intellectual disability, and 47,XXY syndrome in combination with a 7q11.23 duplication, 11p15.5 deletion, and 20q13.33 deletion. (nih.gov)
Phenotype of a Patient With a 1p36.11-p35.3 Interstitial Deletion Encompassing the AHDC1. (koreamed.org)

In this paper, we take into account the nature of disease-related phenotypic data and investigate a novel method based on mm-tSNE [ 12 ] to construct several maps that visualize the non-metric similarities among phenotypes. (biomedcentral.com)
Examples of this type of disorder are Huntington's disease , [8] neurofibromatosis type 1 , neurofibromatosis type 2 , Marfan syndrome , hereditary nonpolyposis colorectal cancer , hereditary multiple exostoses (a highly penetrant autosomal dominant disorder), Tuberous sclerosis , Von Willebrand disease , and acute intermittent porphyria . (wikipedia.org)

This information comes from a database called the Human Phenotype Ontology (HPO) . (nih.gov)

The focus also extends to clinical research in rare diseases spanning basic research to surmount the overarching problems of clinical trials for small patient populations, patient recruitment and retention, and power, use of novel adaptive clinical trial design, natural history studies, endpoint and clinical outcome criteria that may be broadly applicable, better diagnostic criteria for diseases that are defined by extreme phenotypes. (iospress.com)
Thus, phenotype visualization may be complementary to investigate candidate genes for diseases as well as functional relations between genes and proteins. (biomedcentral.com)

Smith-Lemli-Opitz Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (sickkids.ca)
This graph shows the total number of publications written about "Smith-Lemli-Opitz Syndrome" by people in this website by year, and whether "Smith-Lemli-Opitz Syndrome" was a major or minor topic of these publications. (sickkids.ca)
Below are the most recent publications written about "Smith-Lemli-Opitz Syndrome" by people in Profiles. (sickkids.ca)

3) unrelated cases/families with the phenotype(iii). (genomicsengland.co.uk)
Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? (bmj.com)

This child most likely has branchio-oto-renal (BOR) syndrome, an autosomal dominant syndrome. (brainscape.com)

Organisms1

Diseases6

Chemicals and Drugs16

Psychiatry and Psychology3

Phenomena and Processes2

Disciplines and Occupations4

Anthropology, Education, Sociology and Social Phenomena3

Humanities2

Information Science7

Health Care2

Geographicals1

Cholesterol metabolism: the main pathway acting downstream of cytochrome P450 oxidoreductase in skeletal development of the limb. (1/9)

Ambiguous genitalia, impaired steroidogenesis, and Antley-Bixler syndrome in a patient with P450 oxidoreductase deficiency. (2/9)

Impaired hepatic drug and steroid metabolism in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency. (3/9)

Mouse knockout of the cholesterogenic cytochrome P450 lanosterol 14alpha-demethylase (Cyp51) resembles Antley-Bixler syndrome. (4/9)

A rare cause of congenital adrenal hyperplasia: Antley-Bixler syndrome due to POR deficiency. (5/9)

Altered human CYP3A4 activity caused by Antley-Bixler syndrome-related variants of NADPH-cytochrome P450 oxidoreductase measured in a robust in vitro system. (6/9)

Backdoor pathway for dihydrotestosterone biosynthesis: implications for normal and abnormal human sex development. (7/9)

46,XX DSD and Antley-Bixler syndrome due to novel mutations in the cytochrome P450 oxidoreductase gene. (8/9)

Phenotype

Syndrome

Chromosomes, Human, Pair 21

Upper Extremity Deformities, Congenital

Down Syndrome

Abnormalities, Multiple

Antley-Bixler Syndrome Phenotype

Limb Deformities, Congenital

Trisomy

Intellectual Disability

Karyotyping

Chromosome Deletion

In Situ Hybridization, Fluorescence

Pedigree

Chromosome Mapping

Mutation

Genotype

Disease Models, Animal

Metabolic Syndrome X

Nephrotic Syndrome

Sjogren's Syndrome

Turner Syndrome

Molecular Sequence Data

Myelodysplastic Syndromes

Cushing Syndrome

Polycystic Ovary Syndrome

Williams Syndrome

Acute Coronary Syndrome

DiGeorge Syndrome

Prader-Willi Syndrome

Long QT Syndrome

Base Sequence

Horner Syndrome

Guillain-Barre Syndrome

Hemolytic-Uremic Syndrome

Tourette Syndrome

Compartment Syndromes

Amino Acid Sequence

Antiphospholipid Syndrome

Klinefelter Syndrome

Alleles

Werner Syndrome

Porcine Reproductive and Respiratory Syndrome

DNA Mutational Analysis

Bartter Syndrome

Carpal Tunnel Syndrome

Reye Syndrome

Porcine respiratory and reproductive syndrome virus

Bloom Syndrome

Angelman Syndrome

Ehlers-Danlos Syndrome

Brugada Syndrome

HELLP Syndrome

Mice, Inbred C57BL

Cells, Cultured

Mutation, Missense

Gene Deletion

Heterozygote

Mice, Knockout

Respiratory Distress Syndrome, Adult

Facies

Wiskott-Aldrich Syndrome

Job Syndrome

Cell Differentiation

Severe Acute Respiratory Syndrome

Time Factors

Homozygote

Restless Legs Syndrome

Craniofacial Abnormalities

Signal Transduction

Mice, Transgenic

Acquired Immunodeficiency Syndrome

Paraneoplastic Syndromes

RNA, Messenger

Genetic Linkage

Sweet Syndrome

Transcription Factors

Risk Factors

Eye Abnormalities

Cell Line