autosomal dominant disorder


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Related to autosomal dominant disorder: Hereditary diseases, Genetic diseases, Genetic disorders
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Noun1.autosomal dominant disorder - a disease caused by a dominant mutant gene on an autosomeautosomal dominant disorder - a disease caused by a dominant mutant gene on an autosome
autosomal dominant disease
congenital disease, genetic abnormality, genetic defect, genetic disease, genetic disorder, hereditary condition, hereditary disease, inherited disease, inherited disorder - a disease or disorder that is inherited genetically
Huntington's chorea, Huntington's disease - hereditary disease; develops in adulthood and ends in dementia
malignant hyperthermia - hereditary condition in which certain anesthetics (e.g., halothane) cause high body temperatures and muscle rigidity
Marfan's syndrome - an autosomal dominant disease characterized by elongated bones (especially of limbs and digits) and abnormalities of the eyes and circulatory system
neurofibromatosis, von Recklinghausen's disease - autosomal dominant disease characterized by numerous neurofibromas and by spots on the skin and often by developmental abnormalities
osteogenesis imperfecta - autosomal dominant disorder of connective tissue characterized by brittle bones that fracture easily
Based on WordNet 3.0, Farlex clipart collection. © 2003-2012 Princeton University, Farlex Inc.
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References in periodicals archive ?
It is an autosomal dominant disorder that presents with febrile episodes lasting 24-48 hours accompanied by abdominal pain, urticaria, arthritis, conjunctivitis, progressive deafness, and development of amyloidosis (7).
Novel presentations of periodic fever syndromes: Discrepancies between genetic and clinical diagnoses
Androgenetic alopecia is a type of hair loss that is diffuse, symmetric and progressive affecting both sexes.1 It is an androgen-dependent genetically mediated autosomal dominant disorder with polygenic inheritance.2 It affects both genders but it is more common in men affecting 50%2 as compared to females affecting only 30%.3 Hair thinning begins between the ages of 12-40 years but the frequency increases with age.
Frequency of deranged blood lipids in male patients with androgenetic alopecia
Lynch syndrome (LS) is an autosomal dominant disorder characterized by an increased risk of the early development of colorectal cancers and other extracolonic carcinomas (1,2).
Molecular and presymptomatic analysis of a Moroccan Lynch syndrome family revealed a novel frameshift MLH1 germline mutation
As an autosomal dominant disorder, offspring possess a 50% risk of getting the mutated gene.
Autosomal Dominant Polycystic Kidney Disease and Pericardial Effusion
Type II PCT is an autosomal dominant disorder with genetic mutations of the UROD gene causing a decreased UROD activity in all tissues.
Sporadic Porphyria Cutanea Tarda Induced by Alcohol Abuse
Although HAE is an autosomal dominant disorder, approximately 25% of disorders inherited in this manner may represent de novo mutations (17).
Prevalence and Clinical Manifestations of Hereditary Angioedema in Untested Close and Distant Blood Relatives of Hereditary Angioedema Index Patients in a City, Turkey/Turkiye'de Bir Sehirde Indeks Herediter Anjioodem Hastalarinin Uzak ve Yakin Test Edilmemis Akrabalarinda Herediter Anjioodem Prevalans ve Klinik Belirtileri
Holt-Oram syndrome is an autosomal dominant disorder, characterised by skeletal abnormalities of the upper limb associated with congenital heart defect, mainly atrial and ventricular septal defects.
Holt-Oram syndrome: A rare variant
It is caused by a defect on the fibroblast growth factor receptor 2 gene on chromosome 10.1 It is an autosomal dominant disorder or more commonly due to mutation in the F.G.F.R 2 gene.2
Apert Syndrome: Report of a rare congenital malformation
HHCS is an autosomal dominant disorder. Associated symptoms of HHCS are high serum ferritin levels in the absence of iron overload accopanied by early onset of bilateral cataracts.
HEREDITARY HYPERFERRITINEMIA AND CATARACT SYNDROME: A CASE REPORT
SMS is an autosomal dominant disorder with variable expression [1].
Singleton Merten Syndrome: A Rare Cause of Early Onset Aortic Stenosis
Hailey-Hailey disease is a genodermatosis characterized by incomplete penetrance of an autosomal dominant disorder with defects in the ATP2C1 gene.
Hailey-Hailey disease
Gardner's syndrome is an autosomal dominant disorder and a subtype of FAP.
Case report of unusual presentation of marfanoid features in a 13-year-old boy with Gardner's syndrome

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