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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 .
An illustration of the inheritance pattern and phenotypic effects of an autosomal recessive gene. Autosomal 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 ...
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.
Autosomal dominant and autosomal recessive inheritance, the two most common Mendelian inheritance patterns. An autosome is any chromosome other than a sex chromosome.. In 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.
Autosomal dominant cerebellar ataxia, deafness, and narcolepsy; Autosomal dominant partial epilepsy with auditory features; Autosomal dominant porencephaly type I; Autosomal recessive axonal neuropathy with neuromyotonia; Autosomal recessive bestrophinopathy
Autoimmune polyendocrine syndrome type 2, [7] an autosomal dominant syndrome due to multifactorial gene involvement resulting in adrenal insufficiency plus hypothyroidism and/or type 1 diabetes. Immunodysregulation polyendocrinopathy enteropathy X-linked syndrome (IPEX syndrome) is X-linked recessive due to mutation of the FOXP3 gene on the X ...
The "autosomal" aspect of the disease means that the gene mutation occurs in an autosome, which is one of the 44 chromosomes in the human body that is not a sex chromosome (chromosome X or Y). Although the majority of cases are due to the autosomal dominant gene, there have been reports of a rare, autosomal recessive version of the disease. [16]