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The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.
Although polygenic disorders are the most common, ... A single-gene disorder (or monogenic disorder) is the result of a single mutated gene. Single-gene disorders can ...
[6] [7] NF1 is the most common single gene disorder in humans, occurring in about 1 in 2500–3000 births worldwide. [29] NF1 is an autosomal dominant disorder, but approximately half of NF1 cases arise from de novo mutations. NF1 has high phenotypic variability, with members of the same family with the same mutation displaying different ...
A common presentation of sleep apnea in children with autism is insomnia. [67] All known genetic syndromes which are linked to autism have a high prevalence of sleep apnea. The prevalence of sleep apnea in Down's Syndrome is 50% - 100%. [68] Sleep problems and OSA in this population have been linked to language development. [69]
Single-gene defects may arise from abnormalities of both copies of an autosomal gene (a recessive disorder) or of only one of the two copies (a dominant disorder). Some conditions result from deletions or abnormalities of a few genes located contiguously on a chromosome. Chromosomal disorders involve the loss or duplication of larger portions ...
But experts say the one-time treatment is out of reach in India and Africa — places where the disease is most common. Vast inequities cut much of the world off from gene therapy in general.
SCD has become the most common genetic disease in the country, with an overall birth prevalence of one in 2,415 in mainland France, ahead of phenylketonuria (one in 10,862), congenital hypothyroidism (one in 3,132), congenital adrenal hyperplasia (one in 19,008) and cystic fibrosis (one in 5,014) for the same reference period. [157]
The most common X-linked recessive disorders are: [7] Red–green color blindness, also known as daltonism, [8] which affects roughly 7% to 10% of men and 0.49% to 1% of women. Its relative benignity may explain its commonness. Hemophilia A, a blood clotting disorder caused by a mutation of the Factor VIII gene and leading to a deficiency of ...