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Results 41 - 50 of 1,504 for condition
  1. CLCN5 gene 
    ... CLCN5 gene have been found to cause Dent disease 1, a chronic kidney disorder that can cause ... and related health problems in people with Dent disease 1. Abnormal proximal tubule function ultimately leads to ...
    https://medlineplus.gov/genetics/gene/clcn5 - Genetics
  2. NOTCH1 gene 
    ... been found to cause Adams-Oliver syndrome, a condition characterized by areas of missing skin (aplasia cutis ... the scalp and limb abnormalities characteristic of the condition. Researchers suggest these features may be due to ...
    https://medlineplus.gov/genetics/gene/notch1 - Genetics
  3. TERT gene 
    ... an increased risk of developing several life-threatening conditions, including cancer and a progressive lung disease called pulmonary fibrosis. Many affected individuals also develop ...
    https://medlineplus.gov/genetics/gene/tert - Genetics
  4. PTPN22 gene 
    ... with an increased risk of vitiligo, an autoimmune condition that results in patchy changes in skin coloring ( ... trigger the immune system to do so. The condition probably results from a combination of genetic and ...
    https://medlineplus.gov/genetics/gene/ptpn22 - Genetics
  5. FGFR3 gene 
    ... people with this disorder. More About This Health Condition A single FGFR3 gene variant has been identified ... with Crouzon syndrome with acanthosis nigricans. This rare condition causes premature joining of the bones of the ...
    https://medlineplus.gov/genetics/gene/fgfr3 - Genetics
  6. CAV3 gene 
    ... CAV3-related distal myopathy. More About This Health Condition At least four CAV3 gene mutations have been ... in individuals with isolated hyperCKemia. People with this condition have elevated levels of an enzyme called creatine ...
    https://medlineplus.gov/genetics/gene/cav3 - Genetics
  7. TPM2 gene 
    ... occurs in cap myopathy. More About This Health Condition At least three mutations in the TPM2 gene ... of joints before birth. More About This Health Condition MedlinePlus Genetics provides information about Congenital fiber-type ...
    https://medlineplus.gov/genetics/gene/tpm2 - Genetics
  8. GBA1 gene 
    ... gene have been identified in people with Gaucher disease, a disorder with varied features that affect many ... of the GBA1 gene variants responsible for Gaucher disease change single protein building blocks (amino acids) in ...
    https://medlineplus.gov/genetics/gene/gba1 - Genetics
  9. ASPA gene 
    ... the ASPA gene are known to cause Canavan disease, which is a rare inherited disorder that affects ... Researchers have described two major forms of this condition: neonatal/infantile Canavan disease, which is the most ...
    https://medlineplus.gov/genetics/gene/aspa - Genetics
  10. GFAP gene 
    ... spinal cord cells are injured through trauma or disease, astroglial cells react by rapidly producing more glial ... more than 50 GFAP mutations that cause Alexander disease. Most of these mutations change one of the ...
    https://medlineplus.gov/genetics/gene/gfap - Genetics
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