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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 genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosome abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause ...
Congenital adrenal hyperplasia (CAH) Congenital central hypoventilation syndrome. Congenital diaphragmatic hernia (CDH) Congenital Disorder of Glycosylation (CDG) Congenital hyperinsulinism. Congenital insensitivity to pain with anhidrosis (CIPA) Congenital pulmonary airway malformation (CPAM) Conjoined twins. Costello syndrome.
Known disorders in humans include Wolf–Hirschhorn syndrome, which is caused by partial deletion of the short arm of chromosome 4; and Jacobsen syndrome, also called the terminal 11q deletion disorder. Duplications: A portion of the chromosome has been duplicated, resulting in extra genetic material.
Human genetics. Human genetics is the study of inheritance as it occurs in human beings. Human genetics encompasses a variety of overlapping fields including: classical genetics, cytogenetics, molecular genetics, biochemical genetics, genomics, population genetics, developmental genetics, clinical genetics, and genetic counseling.
Mendelian traits in humans. 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 autoimmune diseases. Dermatosis in Crohn's disease. Demyelination in MS. PAS stain of lupus nephritis. Autoimmune urticaria. Proptosis in Graves' disease. This article provides a list of autoimmune diseases. These conditions, where the body's immune system mistakenly attacks its own cells, affect a range of organs and systems within the ...
Bifid nose. Bilateral frontoparietal polymicrogyria. Biotin-thiamine-responsive basal ganglia disease. Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome. Blue-cone monochromacy. Brachial amelia, cleft lip, and holoprosencephaly. Branched-chain keto acid dehydrogenase kinase deficiency.
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