autosomal recessive disease


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Noun1.autosomal recessive disease - a disease caused by the presence of two recessive mutant genes on an autosomeautosomal recessive disease - a disease caused by the presence of two recessive mutant genes on an autosome
limb-girdle muscular dystrophy - an autosomal recessive form of muscular dystrophy that appears anywhere from late childhood to middle age; characterized by progressive muscular weakness beginning either in the shoulder or pelvic girdle; usually progresses slowly with cardiopulmonary complications in the later stages
Niemann-Pick disease - a disorder of lipid metabolism that is inherited as an autosomal recessive trait
infantile amaurotic idiocy, Sachs disease, Tay-Sachs, Tay-Sachs disease - a hereditary disorder of lipid metabolism occurring most frequently in individuals of Jewish descent in eastern Europe; accumulation of lipids in nervous tissue results in death in early childhood
thrombasthenia - a rare autosomal recessive disease in which the platelets do not produce clots in the normal way and hemorrhage results
tyrosinemia - autosomal recessive defect in tyrosine metabolism resulting in liver and kidney disturbances and mental retardation
Werdnig-Hoffman disease - autosomal recessive disease in which the degeneration of spinal nerve cells and brain nerve cells leads to atrophy of skeletal muscles and flaccid paralysis; death usually occurs in early childhood
References in periodicals archive ?
The ABO-101 therapy involves a single intravenous injection of AAV gene therapy for subjects with MPS IIIB, a rare autosomal recessive disease causing neurocognitive decline, speech and mobility loss, and premature death.
Triple A (Allgrove) syndrome, an autosomal recessive disease is characterized by achalasia, alacrimia and ACTH-resistant adrenal failure with progressive neurological syndrome including central, peripheral and autonomic nervous system impairment, and mild mental retardation.
Fanconi anemia (FA) is an autosomal recessive disease characterized by congenital abnormalities, bone marrow (BM) failure, and increased risk for malignancy.
GM1 is an extremely severe, autosomal recessive disease caused by a mutation in the GLB1 gene encoding for the lysosomal acid beta-balactosidase ([sz]gal) enzyme.
SMA is an autosomal recessive disease similar to ALS, but it affects children.
The study of familial cases of indicates the characteristic of autosomal recessive disease.
Cystic fibrosis is the most lethal autosomal recessive disease among Caucasian people, with approximately incidence of 1/2500 live birth.
A challenge of the expanded panels is that as many as one in four individuals who are screened will be identified as a carrier of at least one autosomal recessive disease.
Epidermolysis bullosa, pyloric atresia, aplasia cutis congenita: histopathological delineation of an autosomal recessive disease.
A potential autosomal recessive disease may be caused by an excessively long ROH.
Juvenile hyaline fibromatosis is a rare, autosomal recessive disease.

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