autosomal dominant disease

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Noun1.autosomal dominant disease - a disease caused by a dominant mutant gene on an autosomeautosomal dominant disease - a disease caused by a dominant mutant gene on an autosome
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.
References in periodicals archive ?
Tumor necrosis factor receptor associated periodic syndrome is an autosomal dominant disease. It manifests as fever episodes lasting 1-3 weeks, conjunctivitis, periorbital edema, arthralgia, myalgia, an erythematous migratory plague, and possible polyserositis.
Width of each fold ranges from 0.75 cm to 4 cm and depth of each group ranges from 3 to 10 cm with average being 1 cm2.1 Darier disease is an autosomal dominant disease due to mutations in ATP2-A2-gene that leads to abnormal keratinization.
HRs with Nephrolithiasis and Osteoporosis type 2 (Nephrolithiasis/osteoporosis, hypophosphatemic, 2, NPHLOP2, MIM 612287) is an autosomal dominant disease caused by mutations in the SLC9A3R1 (MIM 604990).
It is an autosomal dominant disease occurring equally in all races and ethnic groups and equally in both sexes.
Polycystic kidney that occurs in adults is an autosomal dominant disease due to the genetic mutations leading to the expression of the proteins polycystin 1 (ADPKD1) and polycystin 2 (ADPKD2).
Familial moyamoya is reported as an autosomal dominant disease with incomplete penetrance.
First degree relatives have 50% chance of this autosomal dominant disease.
Recall that the road to the use of statins in many ways started with familial hypercholesterolemia, an autosomal dominant disease. Note that renal failure in African Americans can now frequently be linked to autosomal recessive inheritance of common APOL1 mutations.
Tuberous sclerosis is an autosomal dominant disease characterized by the development of benign neoplasia (hamartomas) on the skin and internal organs.3 It is seen in one per 10.000 live births.4 These hamartomas can be formed from mature adipocytes, smooth muscle cells and blood vessels.
Gorlin-Goltz syndrome (also known as nevoid basal cell carcinoma syndrome) was first reported in 1894, but described by Gorlin and Goltz in 1960 as a distinct entity consisting of ectodermal and mesodermal abnormalities.(1) It is an hereditary autosomal dominant disease with a prevalence estimated in various studies to be between 1/57 000 and 1/256 000, and a male: female ratio of 1:1.(2) We describe in brief the important radiological features of an accidentally detected case of Gorlin syndrome in the form of a pictorial interlude.
Researchers who have studied the MCUL's genetic profile have found that highly penetrant mutations in an enzyme on chromosome 1 cause the condition, an autosomal dominant disease. A host of mutations has been found in affected families, and certain patterns have emerged.

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