Autosomal Recessive

Some articles on autosomal recessive, autosomal, recessive:

Cirrhosis - Causes
... Autosomal recessive disorder characterized by low serum ceruloplasmin and increased hepatic copper content on liver biopsy ... Autosomal recessive disorder ... deficiency (LAL Deficiency) is a rare autosomal recessive genetic condition and is characterized by hepatomegaly, persistently abnormal LFTs and type II hyperlipidemia ...
Cancer Syndrome - Genetics
... Most cancer syndromes are transmitted in a mendelian autosomal dominant manner ... Less often, syndromes may be transmitted as an autosomal recessive trait ... Both alleles of a gene must be mutated in autosomal recessive disorders for an individual to have a predisposition to cancer ...
Spinal Muscular Atrophies - Classification
... atrophies are traditionally divided into Autosomal recessive proximal spinal muscular atrophy, responsible for 90-95% of cases and usually called simply ... Characteristics SMA Spinal muscular atrophy (SMA) (multiple) SMN1 5q13 Autosomal recessive Affects primarily proximal muscles in people of all ages, progressive, relatively common XLSMA X-linked spinal ...
Congenital Myopathy - Types - Myotubular Myopathy
... Genetically, myotubular myopathy can have two causes autosomal dominant and autosomal recessive ... When caused by a mutation in the DNM2 gene, the disorder is autosomal dominant, meaning it can be passed on by one mutated gene ... in the BIN1 gene, the disease is instead autosomal recessive, and both genes must be mutated for the disease to be inherited ...
Autosomal Recessive Polycystic Kidney
... The recessive form of polycystic kidney, called ARPKD (autosomal recessive polycystic kidney disease) is less common than autosomal dominant polycystic kidney ...