recessive disorder

recessive disorder

Any disease passed from one generation to the next by the inheritance of recessive genes.
References in periodicals archive ?
PH is a rare autosomal recessive disorder leading to elevated levels of endogenous oxalate causing kidney deterioration and a gradual calcification of soft tissues.
Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder caused by mutations in one of ten different genes that lead to platelet dense granule deficiency.
Leukocyte adhesion deficiency type I (LAD-1) is an autosomal recessive disorder characterized by severe and recurrent bacterial infections, altered wound healing and significant morbidity that is caused by absent or diminished expression of integrins b2 class.
Allgrove's syndrome is an autosomal recessive disorder with varied presentations.
To the Editor: Pompe disease, a rare autosomal recessive disorder due to alpha-1,4-glucosidase (GAA) activity deficiency caused by its gene mutation, can cause an excessive lysosomal glycogen storage in muscular tissues.
Thalassemia is an inherited autosomal recessive disorder which affect millions in the world and result in thousands of death each year.
Also, autosomal dominant or x-linked recessive disorder has also been identified.
Joubert syndrome (JS) is a rare autosomal recessive disorder, first described by Joubert in 1969.
Griscelli syndrome is another autosomal recessive disorder that is characterised by similar partial oculocutaneous albinism with immunodeficiency, which is attributed to a mutation in one of three intracellular trafficking genes.
It is due to mutations in adenosine triphosphate binding cassette A12 gene transmitted as an autosomal recessive disorder.
Haemophilia B is a deficiency in clotting factor 9 and is a gender-linked recessive disorder.
This infant has an autosomal recessive disorder described as multiple acyl-CoA dehydrogenase deficiency (MADD).