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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.
A single-gene disorder ... (since the latter types are distinguished purely based on the chromosomal location of the gene). For example, the common form of dwarfism, ...
With an incidence of 1 in 15,000 to 1 in 50,000 live births, it is suggested to be one of the most common contiguous gene deletion disorders. 5p deletions are most common de novo occurrences, which are paternal in origin in 80–90% of cases, possibly arising from chromosome breakage during gamete formation in males [citation needed]
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 ...
Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of enzyme activities. [1] The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances into others . In most of the disorders, problems arise due to accumulation of substances which are ...
Hemoglobinopathy is the medical term for a group of inherited blood disorders involving the hemoglobin, the major protein of red blood cells. [1] They are generally single-gene disorders and, in most cases, they are inherited as autosomal recessive traits. [2] [3]
Mendelian traits behave according to the model of monogenic or simple gene inheritance in which one gene corresponds to one trait. Discrete traits (as opposed to continuously varying traits such as height) with simple Mendelian inheritance patterns are relatively rare in nature, and many of the clearest examples in humans cause disorders.
Advanced sleep phase disorder; Aerotoxic syndrome; Afferent loop syndrome; Aicardi syndrome; Aicardi–Goutières syndrome; AIDS dysmorphic syndrome; Al-Raqad syndrome; Alagille syndrome; Albinism–deafness syndrome; Alcohol withdrawal syndrome; Alezzandrini syndrome; Alice in Wonderland syndrome; Alien hand syndrome; Allan–Herndon–Dudley ...