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A. Abdallat–Davis–Farrage syndrome; Abetalipoproteinemia; Absent tibia-polydactyly-arachnoid cyst syndrome; Acanthosis nigricans-muscle cramps-acral enlargement syndrome
Autosomal recessive pattern, showing how two unaffected carriers can have a child with the disease. Some genetic disorders are caused by having two "bad" copies of a recessive allele. When the gene is located on an autosome (as opposed to a sex chromosome), it is possible for both men and women to be carriers .
Wiedemann–Rautenstrauch (WR) syndrome (German pronunciation: [ˈviːdəman ˈʁaʊtn̩ʃtʁaʊx]), also known as neonatal progeroid syndrome, [1] is a rare autosomal recessive progeroid syndrome. There have been over 30 cases of WR. [2] WR is associated with abnormalities in bone maturation, and lipids and hormone metabolism. [3]
In most of the families reported so far, tetra-amelia syndrome appears to have an autosomal recessive pattern of inheritance. [ 1 ] [ 2 ] This means the defective gene responsible for the disorder is located on an autosome , and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder.
[136] [137] [138] Inheritance of all forms of 21-hydroxylase CAH is autosomal recessive, [4] except some mild disease-causing variants such as p.V281L that seem to exert dominant negative effects on enzymatic activity. [2] Persons affected by any forms of the disease have two abnormal alleles, and both parents are usually heterozygotes (or ...
MUTYH-associated polyposis (also known as MYH-associated polyposis) is an autosomal recessive polyposis syndrome. [1] The disorder is caused by mutations in both alleles (genetic copies) of the DNA repair gene, MUTYH. The MUTYH gene encodes a base excision repair protein, which corrects oxidative damage to DNA.
Imerslund–Gräsbeck syndrome is a rare autosomal recessive, familial form of vitamin B12 deficiency caused by malfunction of the "Cubam" receptor located in the terminal ileum. This receptor is composed of two proteins, amnionless (AMN), and cubilin. A defect in either of these protein components can cause this syndrome.
Juvenile hyaline fibromatosis (also known as fibromatosis hyalinica multiplex juvenilis [2] and Murray–Puretic–Drescher syndrome [2]) is a very rare, autosomal recessive disease due to mutations in capillary morphogenesis protein-2 (CMG-2 gene).