Phenotype
Chromosomes, Human, Pair 21
Down Syndrome
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)
Antley-Bixler Syndrome Phenotype
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).
Limb Deformities, Congenital
Intellectual Disability
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)
In Situ Hybridization, Fluorescence
Pedigree
Chromosome Mapping
Mutation
Genotype
Disease Models, Animal
Metabolic Syndrome X
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)
Nephrotic Syndrome
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.
Sjogren's Syndrome
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.
Turner Syndrome
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.
Molecular Sequence Data
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.
Myelodysplastic Syndromes
Cushing Syndrome
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.
Polycystic Ovary Syndrome
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.
Williams Syndrome
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.
Acute Coronary Syndrome
DiGeorge Syndrome
Prader-Willi Syndrome
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)
Long QT Syndrome
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.
Base Sequence
Horner Syndrome
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)
Guillain-Barre Syndrome
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)
Hemolytic-Uremic Syndrome
Tourette Syndrome
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)
Compartment Syndromes
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.
Amino Acid Sequence
Antiphospholipid Syndrome
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).
Klinefelter Syndrome
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.).
Alleles
Werner Syndrome
Porcine Reproductive and Respiratory Syndrome
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)
Bartter Syndrome
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.
Carpal Tunnel Syndrome
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)
Reye Syndrome
Porcine respiratory and reproductive syndrome virus
Bloom Syndrome
Angelman Syndrome
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)
Ehlers-Danlos Syndrome
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.
Brugada Syndrome
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.
HELLP Syndrome
Cells, Cultured
Mutation, Missense
Gene Deletion
Heterozygote
Mice, Knockout
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.
Respiratory Distress Syndrome, Adult
Facies
Wiskott-Aldrich Syndrome
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.
Job Syndrome
Cell Differentiation
Severe Acute Respiratory Syndrome
Restless Legs Syndrome
Craniofacial Abnormalities
Signal Transduction
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.
Mice, Transgenic
Acquired Immunodeficiency Syndrome
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.
Paraneoplastic Syndromes
RNA, Messenger
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.
Genetic Linkage
Sweet Syndrome
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.
Transcription Factors
Risk Factors
Polymerase Chain Reaction
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.
Kallmann Syndrome
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.
Churg-Strauss Syndrome
Sturge-Weber Syndrome
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.
Genetic Predisposition to Disease
Genetic Complementation Test
Chediak-Higashi Syndrome
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.
Budd-Chiari Syndrome
Genes, Dominant
Bardet-Biedl Syndrome
Pregnancy
Usher Syndromes
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.
Gene Expression Regulation
Case-Control Studies
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.
Sezary Syndrome
Treatment Outcome
Gene Expression
Wolff-Parkinson-White Syndrome
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.
Sick Sinus Syndrome
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.
Beckwith-Wiedemann Syndrome
Biological Markers
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.
Alagille Syndrome
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).
Immunohistochemistry
Membrane Proteins
Felty Syndrome
DNA-Binding Proteins
Stevens-Johnson Syndrome
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.
Reverse Transcriptase Polymerase Chain Reaction
Gene Expression Regulation, Developmental
Sequence Analysis, DNA
Cockayne Syndrome
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.
Immunophenotyping
Immunologic Deficiency Syndromes
Point Mutation
Oculocerebrorenal Syndrome
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)
Wiskott-Aldrich Syndrome Protein
DNA Primers
Peutz-Jeghers Syndrome
Smith-Lemli-Opitz Syndrome
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.
Crosses, Genetic
Hand Deformities, Congenital
Exons
Stiff-Person Syndrome
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)
Nuclear Proteins
Hemorrhagic Fever with Renal Syndrome
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.
Orofaciodigital Syndromes
Gene Expression Profiling
Behcet Syndrome
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.
Cloning, Molecular
Brain
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.
Fibroblasts
Short Bowel Syndrome
Polymorphism, Single Nucleotide
Duane Retraction Syndrome
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.
Zollinger-Ellison Syndrome
Flow Cytometry
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.
Serotonin Syndrome
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.
Sequence Homology, Amino Acid
Hepatopulmonary Syndrome
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).
Polymorphism, Genetic
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.
Fatal Outcome
Costello Syndrome
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).
Retrospective Studies
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.
Models, Genetic
Syndactyly
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.
Chromosomes, Human, Pair 22
Proteus Syndrome
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.
Mosaicism
Genetic Markers
Hermanski-Pudlak Syndrome
Microcephaly
Genetic Testing
Models, Biological
Dwarfism
Prevalence
Follow-Up Studies
Complex Regional Pain Syndromes
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)
Carrier Proteins
Blotting, Western
Li-Fraumeni Syndrome
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.
LEOPARD Syndrome
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.
Cell Division
Respiratory Distress Syndrome, Newborn
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.
Neuroleptic Malignant Syndrome
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)
Klippel-Feil Syndrome
Subclavian Steal Syndrome
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)
Hantavirus Pulmonary Syndrome
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.
Obesity
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).
Frameshift Mutation
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.
Severity of Illness Index
Genetic Association Studies
Magnetic Resonance Imaging
Drosophila Proteins
Waardenburg Syndrome
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.
Hamartoma Syndrome, Multiple
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.
Neoplastic Syndromes, Hereditary
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, Insertional
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.
Mobius Syndrome
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)
Thoracic Outlet Syndrome
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).
Cohort Studies
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.
Transcription, Genetic
Asperger Syndrome
Mutagenesis
Proteins
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.
Codon, Nonsense
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.
White spot syndrome virus 1
Homeodomain Proteins
Systemic Inflammatory Response Syndrome
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.
Ectodermal Dysplasia
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.
Sleep Apnea Syndromes
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.
Wolfram Syndrome
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.
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)
Antley-Bixler Syndrome-Related Mutants of Human NADPH-Cytochrome P450 Reductase: Effects on Drug Metabolism and Mutagenesis<...
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Cytochrome P450 reductase
... 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 ...
Antley-Bixler syndrome
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 (1937-2014) and David Bixler (1929-2005), who first described the ... 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 ...
Cytochrome P450 oxidoreductase deficiency
... 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/ ...
Fibroblast growth factor receptor 1
... 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 ...
Fibroblast growth factor receptor 2
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 ...
List of OMIM disorder codes
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- ...
Congenital Adrenal Hyperplasia Medication: Glucocorticoids, Mineralocorticoids
Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. Nat Genet. 2004 Mar. 36(3 ... The particular phenotype that results depends on the sex of the individual, the location of the block in synthesis, and the ...
Congenital Adrenal Hyperplasia Workup: Laboratory Studies, Imaging Studies, Other Tests
Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. Nat Genet. 2004 Mar. 36(3 ... The particular phenotype that results depends on the sex of the individual, the location of the block in synthesis, and the ...
Congenital Adrenal Hyperplasia Workup: Laboratory Studies, Imaging Studies, Other Tests
Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. Nat Genet. 2004 Mar. 36(3 ... The particular phenotype that results depends on the sex of the individual, the location of the block in synthesis, and the ...
Apert Syndrome Differential Diagnoses
Apert syndrome is a rare autosomal dominant disorder characterized by craniosynostosis, craniofacial anomalies, and severe ... Apert syndrome is named for the French physician who described the syndrome acrocephalosyndactylia in 1906. ... Pfeiffer syndrome, Jackson-Weiss syndrome, Beare-Stevenson syndrome, cutis gyrata, Antley-Bixler syndrome, and Muenke syndrome ... Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes. Nat Genet. 1995 Feb. 9(2):173-6. [ ...
Congenital Adrenal Hyperplasia: Practice Essentials, Background, Pathophysiology
Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. Nat Genet. 2004 Mar. 36(3 ... The particular phenotype that results depends on the sex of the individual, the location of the block in synthesis, and the ... The particular phenotype that results depends on the sex of the individual, the location of the block in synthesis, and the ... The particular phenotype that results depends on the sex of the individual, the location of the block in synthesis, and the ...
Congenital Adrenal Hyperplasia Clinical Presentation: History, Physical, Causes
18] Some individuals with these mutations have craniosynostosis and skeletal abnormalities known as the Antley-Bixler syndrome ... The particular phenotype that results depends on the sex of the individual, the location of the block in synthesis, and the ... Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. Nat Genet. 2004 Mar. 36(3 ... mutations in the fibroblast growth factor receptor-2 can also cause the phenotypic picture of Antley-Bixler syndrome without ...
C-17 Hydroxylase Deficiency Treatment & Management: Medical Care, Surgical Care, Consultations
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. [QxMD ... implications for adrenarche and the polycystic ovary syndrome. Proc Natl Acad Sci U S A. 1995 Nov 7. 92(23):10619-23. [QxMD ...
Congenital Adrenal Hyperplasia Clinical Presentation: History, Physical, Causes
18] Some individuals with these mutations have craniosynostosis and skeletal abnormalities known as the Antley-Bixler syndrome ... The particular phenotype that results depends on the sex of the individual, the location of the block in synthesis, and the ... Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. Nat Genet. 2004 Mar. 36(3 ... mutations in the fibroblast growth factor receptor-2 can also cause the phenotypic picture of Antley-Bixler syndrome without ...
17-Hydroxylase Deficiency Syndrome Differential Diagnoses
... deficiency syndrome is a rare genetic disorder of steroid biosynthesis that causes decreased production of glucocorticoids and ... Arlt W. P450 oxidoreductase deficiency and Antley-Bixler syndrome. Rev Endocr Metab Disord. 2007 Dec. 8(4):301-7. [QxMD MEDLINE ... Two prevalent CYP17 mutations and genotype-phenotype correlations in 24 Brazilian patients with 17-hydroxylase deficiency. J ... Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired ...
17-Hydroxylase Deficiency Syndrome Workup: Laboratory Studies, Other Tests
... deficiency syndrome is a rare genetic disorder of steroid biosynthesis that causes decreased production of glucocorticoids and ... Arlt W. P450 oxidoreductase deficiency and Antley-Bixler syndrome. Rev Endocr Metab Disord. 2007 Dec. 8(4):301-7. [QxMD MEDLINE ... Two prevalent CYP17 mutations and genotype-phenotype correlations in 24 Brazilian patients with 17-hydroxylase deficiency. J ... Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired ...
Whole-Exome Sequencing in Pediatric Endocrinology
Antley-Bixler syndrome. 201750. SOX3 313430. 46XX sex reversal 3. 300833. SOX9 608160. 46XX sex reversal 2. 278850. ... Some genes mutate to multiple phenotypes, in which case those most directly relevant to endocrine function only are listed; see ... Klinefelter syndrome. NA. 15q11-q13 paternal deletion. NA. Prader-Willi syndrome (patients typically followed by endocrinology) ... Axenfeld-Rieger syndrome type 1. 180500. POMC 176830. Obesity, adrenal insufficiency, and red hair due to POMC deficiency. ...
Congenital Adrenal Hyperplasia Treatment & Management: Medical Care, Surgical Care, Consultations
Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. Nat Genet. 2004 Mar. 36(3 ... The particular phenotype that results depends on the sex of the individual, the location of the block in synthesis, and the ...
17-Hydroxylase Deficiency Syndrome Medication: Exogenous Glucocorticoids
... deficiency syndrome is a rare genetic disorder of steroid biosynthesis that causes decreased production of glucocorticoids and ... Arlt W. P450 oxidoreductase deficiency and Antley-Bixler syndrome. Rev Endocr Metab Disord. 2007 Dec. 8(4):301-7. [QxMD MEDLINE ... Two prevalent CYP17 mutations and genotype-phenotype correlations in 24 Brazilian patients with 17-hydroxylase deficiency. J ... Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired ...
Congenital Adrenal Hyperplasia Workup: Laboratory Studies, Imaging Studies, Other Tests
Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. Nat Genet. 2004 Mar. 36(3 ... The particular phenotype that results depends on the sex of the individual, the location of the block in synthesis, and the ...
Congenital Adrenal Hyperplasia Clinical Presentation: History, Physical, Causes
18] Some individuals with these mutations have craniosynostosis and skeletal abnormalities known as the Antley-Bixler syndrome ... The particular phenotype that results depends on the sex of the individual, the location of the block in synthesis, and the ... Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. Nat Genet. 2004 Mar. 36(3 ... mutations in the fibroblast growth factor receptor-2 can also cause the phenotypic picture of Antley-Bixler syndrome without ...
17-Hydroxylase Deficiency Syndrome: Background, Pathophysiology, Etiology
... deficiency syndrome is a rare genetic disorder of steroid biosynthesis that causes decreased production of glucocorticoids and ... Arlt W. P450 oxidoreductase deficiency and Antley-Bixler syndrome. Rev Endocr Metab Disord. 2007 Dec. 8(4):301-7. [QxMD MEDLINE ... Two prevalent CYP17 mutations and genotype-phenotype correlations in 24 Brazilian patients with 17-hydroxylase deficiency. J ... Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired ...
Congenital Adrenal Hyperplasia: Practice Essentials, Background, Pathophysiology
Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. Nat Genet. 2004 Mar. 36(3 ... The particular phenotype that results depends on the sex of the individual, the location of the block in synthesis, and the ... The particular phenotype that results depends on the sex of the individual, the location of the block in synthesis, and the ... The particular phenotype that results depends on the sex of the individual, the location of the block in synthesis, and the ...
Congenital Adrenal Hyperplasia Clinical Presentation: History, Physical, Causes
18] Some individuals with these mutations have craniosynostosis and skeletal abnormalities known as the Antley-Bixler syndrome ... The particular phenotype that results depends on the sex of the individual, the location of the block in synthesis, and the ... Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. Nat Genet. 2004 Mar. 36(3 ... mutations in the fibroblast growth factor receptor-2 can also cause the phenotypic picture of Antley-Bixler syndrome without ...
Congenital Adrenal Hyperplasia Differential Diagnoses
Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. Nat Genet. 2004 Mar. 36(3 ... The particular phenotype that results depends on the sex of the individual, the location of the block in synthesis, and the ...
17-Hydroxylase Deficiency Syndrome Treatment & Management: Medical Care, Surgical Care
... deficiency syndrome is a rare genetic disorder of steroid biosynthesis that causes decreased production of glucocorticoids and ... Arlt W. P450 oxidoreductase deficiency and Antley-Bixler syndrome. Rev Endocr Metab Disord. 2007 Dec. 8(4):301-7. [QxMD MEDLINE ... Two prevalent CYP17 mutations and genotype-phenotype correlations in 24 Brazilian patients with 17-hydroxylase deficiency. J ... Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired ...
Congenital Adrenal Hyperplasia Clinical Presentation: History, Physical, Causes
18] Some individuals with these mutations have craniosynostosis and skeletal abnormalities known as the Antley-Bixler syndrome ... The particular phenotype that results depends on the sex of the individual, the location of the block in synthesis, and the ... Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. Nat Genet. 2004 Mar. 36(3 ... mutations in the fibroblast growth factor receptor-2 can also cause the phenotypic picture of Antley-Bixler syndrome without ...
Congenital Adrenal Hyperplasia Medication: Glucocorticoids, Mineralocorticoids
Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. Nat Genet. 2004 Mar. 36(3 ... The particular phenotype that results depends on the sex of the individual, the location of the block in synthesis, and the ...
Cytochrome P450 oxidoreductase deficiency: MedlinePlus Genetics
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. doi: 10.1007/ ...
Antley-Bixler syndrome - Wikipedia
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 (1937-2014) and David Bixler (1929-2005), who first described the ... 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 ...
Information on EC 1.14.18.9 - 4alpha-methylsterol monooxygenase - BRENDA Enzyme Database
医学部 - 研究成果 - Keio University
Antley-Bixler Syndrome Phenotype 89% * Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 68% ... Two distinctive classic genetic syndromes, 22q11.2 deletion syndrome and angelman syndrome, occurring within the same family. ... Two novel and one recurrent PTPN11 mutations in LEOPARD syndrome [1]. Ogata, T., Yoshida, R., Nagai, T., Hasegawa, T., ... Two Japanese patients with Noonan syndrome-like disorder with loose anagen hair 2. Maruwaka, K., Nakajima, Y., Yamada, T., ...
Causes: What gene change causes Antley-Bixler syndrome? | ThinkGenetic
There are two genetically distinct forms of Antley-Bixler syndrome (ABS). ABS with genital anomalies and disordered ... Prenatal exposure to fluconazole: an identifiable dysmorphic phenotype. Birth Defects Res A Clin Mol Teratol. 2005;73:919-23. [ ... Does everyone with Antley-Bixler syndrome have a gene mutation? Why does Antley-Bixler syndrome cause craniosynostosis?. One ... Does everyone with Antley-Bixler syndrome have a gene mutation?. Everyone with Antley-Bixler syndrome has a gene mutation in ...
Congenital Adrenal Hyperplasia Clinical Presentation: History, Physical, Causes
18] Some individuals with these mutations have craniosynostosis and skeletal abnormalities known as the Antley-Bixler syndrome ... The particular phenotype that results depends on the sex of the individual, the location of the block in synthesis, and the ... Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. Nat Genet. 2004 Mar. 36(3 ... mutations in the fibroblast growth factor receptor-2 can also cause the phenotypic picture of Antley-Bixler syndrome without ...
Clinical, endocrinological, and molecular features of four Korean cases of cytochrome P450 oxidoreductase deficiency
The diagnosis of POR deficiency is not difficult in patients with Antley-Bixler syndrome phenotypes. However, milder forms of ... A case of Antley-Bixler syndrome with a novel likely pathogenic variant (c.529G,C) in the POR gene. Ann Lab Med 2017;37:559-62 ... Linking Antley-Bixler syndrome and congenital adrenal hyperplasia: a novel case of P450 oxidoreductase deficiency. Am J Med ... Two showed skeletal abnormalities consistent with Antley-Bixler syndrome. The phenotypic spectrum of POR deficiency is broad, ...
Citokrom P450- Oksidoreduktaza (POR) v biosintezi holesterola<...
Some patients with Antley-Bixler syndrome have mutations in the POR gene. A similar phenotype was also observed after early in ... Some patients with Antley-Bixler syndrome have mutations in the POR gene. A similar phenotype was also observed after early in ... Some patients with Antley-Bixler syndrome have mutations in the POR gene. A similar phenotype was also observed after early in ... Some patients with Antley-Bixler syndrome have mutations in the POR gene. A similar phenotype was also observed after early in ...
Abstract Search
... resembling Antley Bixler syndrome (ABS, MIM 124015), a skeletal malformaton phenotype also present in patients with fibroblast ... Multiple Malformations Extending the Phenotypic Spectrum of Antley Bixler Syndrome in a Patient with P450 Oxidoreductase ... Background: Beckwith Wiedemann syndrome (BWS) is an overgrowth disorder with vari-able phenotype (hemihypertrophy, macroglossia ... A 4-Month-Old Boy with Beckwith Wiedemann Syndrome. Janchevska Aleksandra , Tasic Velibor , Gucev Zoran , Bachmann Nadine , ...
Ichthyosis, X-Linked | Profiles RNS
Metabolic Diseases, Disorders, and Health Challenges < Nutritional and Metabolic Diseases << Diseases <<< Sick Care Systems ...
Antley-Bixler Syndrome Phenotype *Apparent Mineralocorticoid Excess Syndrome *Congenital Adrenal Hyperplasia *X-Linked ... "Metabolic Syndrome (Metabolic Syndrome X)" Metabolic Syndrome X. In our body, the metabolic dis-order, Metabolic Syndrome X is ... Li-Fraumeni Syndrome *Nijmegen Breakage Syndrome *Rothmund-Thomson Syndrome *Severe Combined Immunodeficiency *Werner Syndrome ... MELAS Syndrome *Menkes Kinky Hair Syndrome *MERRF Syndrome *Oculocerebrorenal Syndrome *Peroxisomal Disorders * ...
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency - Rare Pulmonology News
... midface hypoplasia with proptosis and dysplastic ears and other features similar to those seen in Antley-Bixler syndrome. (see ... This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms ... Monarchs tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and ... both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype. ...
Manifestations of Craniofacial Syndromes: Overview, Classification, Apert Syndrome
The late David Smith, MD, a superb dysmorphologist and the original author of the illustrated guide to syndromes entitled ... 1] Saethre-Chotzen, Jackson-Weiss, Carpenter, and Antley-Bixler. * Abnormal contour - Encephalocele (with absent corpus ... The shared spectra of dysmorphic phenotypes and their inherent variability can be overwhelming. Several thousand distinct ... Branchiootorenal Syndrome. First described in 1975, BOR syndrome (also known as Melnick-Fraser syndrome) is the association of ...
Congenital Adrenal Hyperplasia: Practice Essentials, Background, Pathophysiology
Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. Nat Genet. 2004 Mar. 36(3 ... The particular phenotype that results depends on the sex of the individual, the location of the block in synthesis, and the ... The particular phenotype that results depends on the sex of the individual, the location of the block in synthesis, and the ... The particular phenotype that results depends on the sex of the individual, the location of the block in synthesis, and the ...
nephrotic syndrome type 19 - Ontology Browser - Rat Genome Database
Antley-Bixler syndrome + ARC syndrome + arthrogryposis multiplex congenita + asphyxiating thoracic dystrophy 1 ... Phenotypes & Models Find Models new Genetic Models Autism Models PhenoMiner (Quantitative Phenotypes) Expected Ranges ( ... nephrotic syndrome type 18 nephrotic syndrome type 19 A familial nephrotic syndrome that has_material_basis_in compound ... Phenotypes GERRC (Gene Editing Rat Resource Center) Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records ...
congenital disorder of glycosylation Ia - Ontology Browser - Rat Genome Database
Antley-Bixler syndrome + ARC syndrome + arthrogryposis multiplex congenita + asphyxiating thoracic dystrophy 1 ... Phenotypes & Models Find Models new Genetic Models Autism Models PhenoMiner (Quantitative Phenotypes) Expected Ranges ( ... Phenotypes GERRC (Gene Editing Rat Resource Center) Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records ... carbohydrate-deficient glycoprotein syndrome type 1A ; carbohydrate-deficient glycoprotein syndrome type Ia ; congenital ...
Questions & Answers
Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. Nat Genet. 2004 Mar. 36(3 ... The particular phenotype that results depends on the sex of the individual, the location of the block in synthesis, and the ... How is the phenotype of congenital adrenal hyperplasia (CAH) determined?. How does congenital adrenal hyperplasia (CAH) occur? ... How is the clinical phenotype identified in congenital adrenal hyperplasia (CAH)?. Which factors increase the risks of ...
Sema3d Mouse Gene Details | sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D |...
Discover Sema3ds significant phenotypes, expression, images, histopathology and more. Data for gene Sema3d is all freely ... Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis. Atrial septal defect. OMIM:207410. ... Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes. ... Phenotype. System. Allele. Zyg. Sex. Life Stage. P Value. preweaning lethality, complete penetrance Sema3dtm1b(KOMP)Wtsi HOM ...
herenciageneticayenfermedad: Browse A-Z | Genetic and Rare Diseases Information Center (GARD) - an NCATS Program O/1 ENGLISH
Osteodysgenesis, multisynostotic with fractures - See Antley Bixler syndrome. *Osteodysplasia familial Anderson type ... Overlap connective tissue disease - See MASS phenotype. *Ovoid neutrophil nuclei, developmental delay, epilepsy and skeletal ... Oral facial digital syndrome 2 - See Orofaciodigital syndrome 2. *Oral facial digital syndrome 3 - See Orofaciodigital syndrome ... Oral facial digital syndrome 4 - See Orofaciodigital syndrome 4. *Oral facial digital syndrome 5 - See Orofaciodigital syndrome ...
Bio2Vec
Evaluation of a Difference or Disorder of Sex Development
Antley-Bixler syndrome). Maternal androgenization during pregnancy onset second trimester possible. Combined P450c17 and ... In contrast, individuals with 46, XX testicular DSD usually have a male phenotype and absent Müllerian structures and are often ... It is beyond the scope of this table to include all the congenital conditions and syndromes that are associated with atypical ... May be associated with other features of hypopituitarism or syndromes associated with CHH. May present in early infancy or ...
Frontiers | Pharmacogenomics of human P450 oxidoreductase
P450 oxidoreductase deficiency (PORD) was initially identified in patients with Antley-Bixler syndrome (ABS) but now it has ... P450 oxidoreductase deficiency (PORD) was initially identified in patients with Antley-Bixler syndrome but now it has been ... Ko, J. M., Cheon, C. K., Kim, G. H., and Yoo, H. W. (2009). A case of Antley-Bixler syndrome caused by compound heterozygous ... 2012). Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency. J. Clin. Endocrinol ...
Trastornos del desarrollo sexual en individuos 46,XX: una actualización
| Revista Mexicana de Urología
... and the Antley-Bixler syndrome phenotype. Am J Med Genet A. 2004 Aug 30;129A(2):105-12. doi: https://doi.org/10.1002/ajmg.a. ... Variable phenotypes associated with aromatase (CYP19) insufficiency in humans. J Clin Endocrinol Metab. 2007 Mar;92(3):982-90. ... Vitellius G, Lombes M. GENETICS IN ENDOCRINOLOGY: Glucocorticoid resistance syndrome. Eur J Endocrinol. 2020 Feb 1;182(2):R15- ... syndrome. Orphanet J Rare Dis. 2007 Mar 14;2:13. doi: https://doi.org/10.1186/1750-1172-2-13 ...
ZRANB1 and TWIST1 - Wiki-MPM
Antley-Bixler syndrome; Carpenter syndrome; Craniofrontonasal dysplasia; Noonan syndrome; Baller-Gerold syndrome ... Night sleep phenotypes ( 27126917). *Obesity-related traits ( 23251661). *Pulse pressure ( 27841878 29403010 30487518 30578418) ... Craniosynostosis, including: Pfeiffer syndrome; Apert syndrome; Crouzon syndrome; Jackson-Weiss syndrome; Beare-Stevenson ... syndrome; Muenke craniosynostosis; Saethre-Chotzen syndrome; Craniosynostosis Boston type; ...
Adrenal Hyperplasia, Congenital | Profiles RNS
Cyp26 enzymes are required to balance the cardiac and vascular lineages within the anterior lateral plate mesoderm |...
... most notably DiGeorge syndrome, Kippel Feils anomaly and Antley Bixler syndrome (Fukami et al., 2010; Pennimpede et al., 2010 ... which produced phenotypes equivalent to cyp26a1/gir mutants injected with cyp26c1 MO. To counteract non-specific MO-induced ... Loss of Cyp26 function in humans is associated with numerous developmental syndromes that include cardiovascular defects. ... Although the overt phenotypes with respect to the ALPM and surplus atrial cell production are remarkably similar in Cyp26- ...
ZFIN Human Disease: autosomal recessive disease
Antley-Bixler syndrome ARC syndrome arthrogryposis multiplex congenita asphyxiating thoracic dystrophy 1 asphyxiating thoracic ... cataract 13 with adult i phenotype cataract 16 multiple types cataract 17 multiple types cataract 18 cataract 19 multiple types ... Warburg micro syndrome Warsaw breakage syndrome Werner syndrome Wolcott-Rallison syndrome Wolfram syndrome 1 Wolfram syndrome 2 ... Klippel-Feil syndrome 2 Klippel-Feil syndrome 4 Kohlschutter-Tonz syndrome Kufor-Rakeb syndrome Lafora disease Laron syndrome ...
GenePage ID Gene Symbol DOID - name
... ulnar-mammary syndrome 1018295 fgfr2 DOID:0050331 - LADD syndrome,DOID:0050462 - Antley-Bixler syndrome,DOID:0050660 - Beare- ... hereditary breast ovarian cancer syndrome 490632 gcnt2.2 DOID:0110242 - cataract 13 with adult i phenotype,DOID:0110243 - ... Antley-Bixler syndrome 951381 tbx4 DOID:0111382 - ischiocoxopodopatellar syndrome 951459 cyp1b1 DOID:0060673 - Peters anomaly, ... Meckel syndrome,DOID:0070117 - Meckel syndrome 3,DOID:0110123 - Bardet-Biedl syndrome 1,DOID:0111001 - Joubert syndrome 6,DOID: ...
Clinical phenotype1
- The clinical phenotype of congenital adrenal hyperplasia depends on the nature and severity of the enzyme deficiency. (medscape.com)
Congenital1
- 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)
Cytochrome P450 oxidoreductase2
- 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)
Deficiency2
- Among the conditions associated with DOC excess are Cushing syndrome (particularly the ectopic adrenocorticotropic hormone [ACTH] variants and in the setting of adrenocortical carcinomas), adrenal tumors, CAH due to 11-hydroxylase deficiency, and primary cortisol resistance. (medscape.com)
- Background: P450 oxidoreductase deficiency (PORD) is characterised by glucocorticoid and sex steroid deficiency and skeletal malformations, resembling Antley Bixler syndrome (ABS, MIM 124015), a skeletal malformaton phenotype also present in patients with fibroblast growth factor receptor 2 mutations (FGFR2, MIM 176943). (eurospe.org)
Genital1
- Two patients harbored homozygous p.R457H mutations in POR and presented with adrenal insufficiency and genital ambiguity without skeletal phenotypes. (e-apem.org)
Steroidogenesis1
- Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. (medscape.com)
Craniosynostosis3
- Why does Antley-Bixler syndrome cause craniosynostosis? (thinkgenetic.com)
- One main symptom of Antley-Bixler syndrome (ABS) is craniosynostosis. (thinkgenetic.com)
- R457H]) manifested skeletal abnormalities, such as craniosynostosis and radiohumeral synostosis, suggesting Antley-Bixler syndrome. (e-apem.org)
Genetically2
- There are two distinct genetic mutations associated with the Antley-Bixler syndrome phenotype, which suggests the disorder may be genetically heterogeneous. (wikipedia.org)
- There are two genetically distinct forms of Antley-Bixler syndrome (ABS). (thinkgenetic.com)
Autosomal2
- 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)
- Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype. (rarepulmonologynews.com)
Dysmorphic2
- Prenatal exposure to fluconazole: an identifiable dysmorphic phenotype. (thinkgenetic.com)
- The shared spectra of dysmorphic phenotypes and their inherent variability can be overwhelming. (medscape.com)
Malformations2
- Background: Beckwith Wiedemann syndrome (BWS) is an overgrowth disorder with vari-able phenotype (hemihypertrophy, macroglossia, visceromegaly, malformations, and hypo-glycaemia in 30 50%) and predisposition for tumors, during the second part of pregnancy and first few years of life.Objective and hypotheses: Molecular characterisation of a patient with BWS was perfor-med to ensure adequate clinical management. (eurospe.org)
- Craniofacial malformations observed include large domed forehead, flat nose, midface hypoplasia with proptosis and dysplastic ears and other features similar to those seen in Antley-Bixler syndrome (see this term). (rarepulmonologynews.com)
Gene6
- Causes: What gene change causes Antley-Bixler syndrome? (thinkgenetic.com)
- Does everyone with Antley-Bixler syndrome have a gene mutation? (thinkgenetic.com)
- Everyone with Antley-Bixler syndrome has a gene mutation in either the FGFR2 gene or the POR gene. (thinkgenetic.com)
- Some patients with Antley-Bixler syndrome have mutations in the POR gene. (elsevier.com)
- Introduction: The genomic disorders caused by rearrangements in region 5q35, including the NSD1 (nuclear receptor SET domain containing protein-1) gene have various phenotypes depending on presence of deletions, duplications or inversions. (eurospe.org)
- A knowledge graph of biological entities such as genes, gene functions, diseases, phenotypes and chemicals. (edu.sa)
Ontology1
- This information comes from a database called the Human Phenotype Ontology (HPO) . (rarepulmonologynews.com)
Ambiguous1
- Ambiguous genitalia is often associated with one form of Antley-Bixler syndrome. (thinkgenetic.com)
Angelman1
- Introduction: Angelman syndrome is caused by de novo maternal deletions in 15q11-q13 region of chromosome 15 in approximately 70% of affected children.Patient and Methods: A two and a half year-old boy with hypotonia, absence of speech, low weight (-4.38 SDS) and short stature (-1.14 SDS) had pale skin and typical facial features with wide and prominent forehead, low-lying ears, wide mouth, small and widely spaced te. (eurospe.org)
Genetic2
- citation needed] Because this is a genetic condition, individuals with Antley-Bixler syndrome and their families would benefit from meeting with a genetic counselor. (wikipedia.org)
- The particular phenotype that results depends on the sex of the individual, the location of the block in synthesis, and the severity of the genetic deletion or mutation. (medscape.com)
Absent1
- In contrast, individuals with 46, XX testicular DSD usually have a male phenotype and absent Müllerian structures and are often diagnosed after karyotype analysis during work-up for infertility. (medscape.com)
Patients2
- Thus, 19-Nor-deoxycorticosterone levels also are elevated in patients with this syndrome. (medscape.com)
- Images depicting the hands of patients with Apert syndrome can be seen below. (medscape.com)
Abnormalities2
- 46,XX DSD can be classified into disorders of ovarian development, conditions with androgen excess and other syndromes, which are often associated with other developmental abnormalities. (medscape.com)
- Novel and recurrent copy number variations have been reported to be associated with a third of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome and other Müllerian abnormalities. (medscape.com)
Symptoms1
- citation needed] The treatment of Antley-Bixler syndrome is directed toward the specific symptoms that are seen in each individual. (wikipedia.org)
Disease1
- Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes. (mousephenotype.org)
Examples1
- Examples of syndromes are listed with each item. (medscape.com)
Exposure1
- A similar phenotype was also observed after early in utero exposure to azoles, which are inhibitors of fungal CYP51 used to treat systemic mycoses. (elsevier.com)
Term1
- The late David Smith, MD, a superb dysmorphologist and the original author of the illustrated guide to syndromes entitled Recognizable Patterns of Human Malformation (WB Saunders, Philadelphia), coined the term dysmorphology. (medscape.com)
Rare1
- Furthermore, the human genome is estimated to contain about 80,000 genes, so many rare syndromes may have yet to be defined. (medscape.com)
Bone1
- Hand of a patient with Apert syndrome showing syndactyly (bone and soft tissue). (medscape.com)
System1
- The following classification of otolaryngologic syndromes and conditions is based on system involvement. (medscape.com)
Image1
- Hand of a patient (different patient than in the image above) with Apert syndrome showing syndactyly (soft tissue). (medscape.com)