WebPages in category "Autosomal recessive disorders" The following 200 pages are in this category, out of approximately 414 total. This list may not reflect recent changes .

WebAutosomal genetic disorders can arise due to a number of causes, some of the most common being nondisjunction in parental germ cells or Mendelian inheritance of deleterious alleles from parents. Autosomal genetic disorders which exhibit Mendelian inheritance can be inherited either in an autosomal dominant or recessive fashion. These disorders …

WebIn genetics, dominance is the phenomenon of one variant of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and the second recessive.This state of having two different variants of the same gene on each chromosome is originally …

WebThe turkey is a large species of bird in the genus Meleagris, native to North America.There are two extant turkey species: the wild turkey (M. gallopavo) of eastern and central North America and the ocellated turkey (M. ocellata) of the Yucatán Peninsula in Mexico. This photograph, taken at Deer Island Preserve in Novato, California, depicts a male Rio …

WebPKU is an autosomal recessive metabolic genetic disorder.As an autosomal recessive disorder, two PKU alleles are required for an individual to experience symptoms of the disease. For a child to inherit PKU, both the mother and father must have and pass on the defective gene. If both parents are carriers for PKU, there is a 25% chance any child they …

WebAutosomal dominant polycystic kidney disease (ADPKD) is the most common of all the inherited cystic kidney diseases with an incidence of 1:500 live births. Studies show that 10% of end-stage kidney disease (ESKD) patients being treated with dialysis in Europe and the U.S. were initially diagnosed and treated for ADPKD.. Genetic mutations in any of the …

WebWerner syndrome (WS) is a rare autosomal recessive disorder. It has a global incidence rate of less than 1 in 100,000 live births, although incidences in Japan and Sardinia are higher, where it affects 1 in 20,000-40,000 and 1 in 50,000, respectively. As of 2006, there were approximately 1,300 reported cases of WS worldwide. Affected individuals typically …

WebSigns and symptoms. Spinocerebellar ataxia (SCA) is one of a group of genetic disorders characterized by slowly progressive incoordination of gait and is often associated with poor coordination of hands, speech, and eye movements. A review of different clinical features among SCA subtypes was recently published describing the frequency of non-cerebellar …

WebTay–Sachs disease is an autosomal recessive genetic disorder, meaning that when both parents are carriers, there is a 25% risk of giving birth to an affected child with each pregnancy.The affected child would have received a mutated copy of the gene from each parent. If one parent has this Genetic disorder and is passed down to the child, then the …

WebSevere congenital neutropenia (SCN), also often known as Kostmann syndrome or disease, is a group of rare disorders that affect myelopoiesis, causing a congenital form of neutropenia, usually without other physical malformations.SCN manifests in infancy with life-threatening bacterial infections. Most cases of SCN respond to treatment with …