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Results 81 - 90 of 156 for Abnormality of the liver
  1. Wilson disease 
    ... copper accumulate in the body, particularly in the liver, brain, and eyes. The signs and symptoms of ... features of this condition include a combination of liver disease and neurological and psychiatric problems.Liver disease ...
    https://medlineplus.gov/genetics/condition/wilson-disease - Genetics
  2. Cytochrome c oxidase deficiency 
    ... skeletal muscles), the heart, the brain, or the liver. Signs and symptoms of cytochrome c oxidase deficiency ... possible feature of this condition is an enlarged liver (hepatomegaly), which may lead to liver failure. Most ...
    https://medlineplus.gov/.../cytochrome-c-oxidase-deficiency - Genetics
  3. ALDH3A2 gene 
    ... but its activity (expression) is highest in the liver. Within cells, the FALDH enzyme is located in the ... neurological abnormalities; and eye problems. Many of these mutations change ...
    https://medlineplus.gov/genetics/gene/aldh3a2 - Genetics
  4. FLT3 gene 
    ... About This Health Condition CD135 CD135 antigen fetal liver kinase 2 FL cytokine receptor FLK-2 FLK2 ...
    https://medlineplus.gov/genetics/gene/flt3 - Genetics
  5. CDH1 gene 
    ... cell-CAM 120/80 E-cadherin ECAD LCAM liver cell adhesion molecule UVO uvomorulin Tests of CDH1 ...
    https://medlineplus.gov/genetics/gene/cdh1 - Genetics
  6. Hereditary hemorrhagic telangiectasia 
    ... problems may arise from hemorrhages in the brain, liver, lungs, or other organs.There are several forms ... may be associated with a higher risk of liver involvement. Women are more likely than men to ...
    https://medlineplus.gov/.../hereditary-hemorrhagic-telangiectasia - Genetics
  7. Microvillus inclusion disease 
    ... the expected rate (failure to thrive), developmental delay, liver and kidney problems, and thinning of the bones ( ... digestive fluid called bile. Cholestasis leads to irreversible liver disease (cirrhosis).In individuals with microvillus inclusion disease, ...
    https://medlineplus.gov/.../condition/microvillus-inclusion-disease - Genetics
  8. COG5-congenital disorder of glycosylation 
    ... control bladder function (a condition called neurogenic bladder), liver disease, and joint deformities (contractures). COG5-CDG is ...
    https://medlineplus.gov/...cog5-congenital-disorder-of-glycosylation - Genetics
  9. 8p11 myeloproliferative syndrome 
    ... cancers results in enlargement of the spleen and liver (splenomegaly and hepatomegaly, respectively). Most people with 8p11 ... cell syndrome Myeloid and lymphoid neoplasms with FGFR1 abnormalities Stem cell leukemia/lymphoma Genetic Testing Registry: Myeloid ...
    https://medlineplus.gov/.../8p11-myeloproliferative-syndrome - Genetics
  10. Keratitis-ichthyosis-deafness syndrome 
    ... the condition. Affected individuals in these families have liver disease, which is not a feature of the ...
    https://medlineplus.gov/.../keratitis-ichthyosis-deafness-syndrome - Genetics
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