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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.
A single-gene disorder (or monogenic disorder) ... Global Genes Project, Genetic and Rare Diseases Organization; List of Genetic Disorders - Genome.gov
Huntington's disease; Hirschsprung's disease, or congenital aganglionic megacolon; Hypertrichosis; Hypoglossia; Hypomelanism or hypomelanosis (albinism) Hypospadias; Haemophilia; Heterochromia; Hemochromatosis
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.
Along with neonatal diabetes, MODY is a form of the conditions known as monogenic diabetes. While the more common types of diabetes (especially type 1 and type 2) involve more complex combinations of causes involving multiple genes and environmental factors, each forms of MODY are caused by changes to a single gene (monogenic). [2]
Batten disease; Behr syndrome; Berdon syndrome; Bernard–Soulier syndrome; Beta-ketothiolase deficiency; Beta-mannosidosis; Bietti's crystalline dystrophy; Biotin-thiamine-responsive basal ganglia disease; Biotinidase deficiency; Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome; Bloom syndrome; Blue diaper syndrome; Boucher ...
Autosomal dominant A 50/50 chance of inheritance. Sickle-cell disease is inherited in the autosomal recessive pattern. When both parents have sickle-cell trait (carrier), a child has a 25% chance of sickle-cell disease (red icon), 25% do not carry any sickle-cell alleles (blue icon), and 50% have the heterozygous (carrier) condition. [1]
List of endocrine diseases; List of eponymous diseases; List of eye diseases and disorders; List of intestinal diseases; List of infectious diseases; List of human disease case fatality rates; List of notifiable diseases - diseases that should be reported to public health services, e.g., hospitals. Lists of plant diseases; List of pollution ...