autosomal recessive disease


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Related to autosomal recessive disease: autosomal dominant disease, Autosomal dominant, autosomal dominant disorders, recessive disorder
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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 ?
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.
SMA is an autosomal recessive disease caused by a genetic defect in the SMN1 gene that encodes for the SMN protein.
All ROH have the potential to cause an autosomal recessive disease.
Pycnodysostosis is an autosomal recessive disease (1-6) characterised by systemic osteosclerosis owing to decreased bone turnover.
However, as we explained in our article, an autosomal recessive disease, such as homocystinuria, is the most probable explanation.
Tay-Sachs disease is an autosomal recessive disease caused by a deficiency of the enzyme hexosaminadase A.
Chediak-Higashi syndrome is a rare autosomal recessive disease that damages immune system cells, leaving them unable to fight off invaders such as viruses and bacteria effectively.
A large range of ultrastructural defects of the cilia may cause this syndrome and the most common pattern of inheritance is autosomal recessive disease (6).
Cystic fibrosis (CF) is a common autosomal recessive disease that inflicts Caucasian children.
SMA is an autosomal recessive disease, which means that both parents of a baby with the illness will carry the gene responsible.
According to Diana Hu, MD, acting maternal child health coordinator for the Indian Health Service in Tuba City, AZ, about two of every 5,000 newborn Navajo babies have SCID, an autosomal recessive disease that can be passed on only if both parents carry the gene.
For a child to be born with an autosomal recessive disease, of which Batten disease is one of hundreds, both parents must carry the gene mutation.

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