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Results 1 - 10 of 1,193 for Mutation
  1. MECP2-related severe neonatal encephalopathy 
    ... males have been reported in the scientific literature. Mutations in the MECP2 gene cause MECP2-related severe ... versions of certain proteins in nerve cells. Although mutations in the MECP2 gene disrupt the normal function ...
    https://medlineplus.gov/...p2-related-severe-neonatal-encephalopathy - Genetics
  2. Renpenning syndrome 
    ... have been identified. Renpenning syndrome is caused by mutations in the PQBP1 gene. This gene provides instructions ... important for normal brain development.Most of the mutations in the PQBP1 gene that cause Renpenning syndrome ...
    https://medlineplus.gov/genetics/condition/renpenning-syndrome - Genetics
  3. Mitochondrial membrane protein-associated neurodegeneration 
    ... affect less than 1 in 1 million people. Mutations in the C19orf12 gene cause MPAN. The protein ... a process known as lipid homeostasis.The gene mutations that cause this condition lead to an altered ...
    https://medlineplus.gov/...rane-protein-associated-neurodegeneration - Genetics
  4. Multiple familial trichoepithelioma 
    ... unknown. Multiple familial trichoepithelioma can be caused by mutations in the CYLD gene. This gene provides instructions ... related multiple familial trichoepithelioma are born with a mutation in one of the two copies of the ...
    https://medlineplus.gov/.../multiple-familial-trichoepithelioma - Genetics
  5. Familial hypercholesterolemia 
    ... including Afrikaners in South Africa, Lebanese, and Tunisians. Mutations in the APOB, LDLR, LDLRAP1, or PCSK9 gene ... role in regulating cholesterol levels. Some LDLR gene mutations reduce the number of low-density lipoprotein receptors ...
    https://medlineplus.gov/.../condition/familial-hypercholesterolemia - Genetics
  6. Epidermolysis bullosa simplex 
    ... features overlap significantly, and they are caused by mutations in the same genes. Most researchers now consider ... call the Ogna type. It is caused by mutations in a gene that is not associated with ...
    https://medlineplus.gov/.../condition/epidermolysis-bullosa-simplex - Genetics
  7. Allan-Herndon-Dudley syndrome 
    ... affected by this condition have been reported worldwide. Mutations in the SLC16A2 gene cause Allan-Herndon-Dudley ... of chemical reactions in the body (metabolism).Gene mutations alter the structure and function of the SLC16A2 ...
    https://medlineplus.gov/.../condition/allan-herndon-dudley-syndrome - Genetics
  8. 2-hydroxyglutaric aciduria 
    ... different types of 2-hydroxyglutaric aciduria result from mutations in several genes. D-2-HGA type I is caused by mutations in the D2HGDH gene; type II is caused ...
    https://medlineplus.gov/.../condition/2-hydroxyglutaric-aciduria - Genetics
  9. BAP1 tumor predisposition syndrome 
    ... literature. BAP1 tumor predisposition syndrome is caused by mutations in the BAP1 gene. The BAP1 protein acts ... of damaged DNA, and control of gene activity.Mutations in the BAP1 gene lead to production of ...
    https://medlineplus.gov/.../bap1-tumor-predisposition-syndrome - Genetics
  10. Loeys-Dietz syndrome 
    ... are distinguished by their genetic cause: TGFBR1 gene mutations cause type I, TGFBR2 gene mutations cause type II, SMAD3 gene mutations cause type III, TGFB2 gene mutations cause type ...
    https://medlineplus.gov/genetics/condition/loeys-dietz-syndrome - Genetics
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