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
Based on WordNet 3.0, Farlex clipart collection. © 2003-2012 Princeton University, Farlex Inc.
References in periodicals archive ?
Netherton Syndrome is a severe autosomal recessive disease characterized by congenital erythroderma, bamboo hair and abnormality in the immune system.
Netherton Syndrome is a severe autosomal recessive disease characterized by congenital erythroderma, "bamboo hair" and abnormality in the immune system.
SIFD is an autosomal recessive disease that responds to IVIg, regular blood transfusions, and iron chelation (17).
To screen potential candidate mutations, filtration criteria were applied.1 For an autosomal recessive disease, affected individuals must have both alleles in mutated state (homozygous mutant) whereas normal parents of such affected individuals should carry one mutated and one normal allele (heterozygous carrier) of the gene under test.
Familial Mediterranean fever is an autosomal recessive disease characterized by recurrent episodes of fever, peritonitis, pleuritis, and arthritis.[2] Previous studies have reported that 90% of patients have abdominal, 75% have articular, and 45% have pleural episodes.
It is an autosomal recessive disease occurring due to missense mutation in the ABCA12 gene on chromosome 2q35.
Thalassaemia is an autosomal recessive disease, and if two carriers get married to each other then they shall have a 1 in 4 chance (25%) of having an offspring with B-Thalassaemia Major in every pregnancy.
It is an autosomal recessive disease and caused by mutations in the INPPL1 gene (inositol polyphosphate phosphatase-like 1, MIM 600829) (102).
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.
Werner syndrome (WS) is a rare autosomal recessive disease characterized by premature aging [1].

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