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
References in periodicals archive ?
It is an autosomal dominant disease occurring equally in all races and ethnic groups and equally in both sexes.
Multiple epidermal cysts may be associated with Gardner syndrome, which is an autosomal dominant disease characterized by cutaneous lesions, osteomas, and intestinal polyposis.
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.
Rarely, syringoma may be associated with the Brooke-Spiegler syndrome, an autosomal dominant disease characterized by the development of multiple cylindromas, trichoepitheliomas, and occasional spiradenomas.
Recall that the road to the use of statins in many ways started with familial hypercholesterolemia, an autosomal dominant disease.
Tuberous sclerosis is an autosomal dominant disease characterized by the development of benign neoplasia (hamartomas) on the skin and internal organs.
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.
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.

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