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Results 91 - 100 of 104 for Abnormality of the liver
  1. Myoclonic epilepsy myopathy sensory ataxia 
    ... mtDNA (mtDNA depletion), particularly in muscle, brain, or liver cells. MtDNA depletion causes a decrease in cellular ... depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases. Am J Hum Genet. 1991 ...
    https://medlineplus.gov/...yoclonic-epilepsy-myopathy-sensory-ataxia - Genetics
  2. Camurati-Engelmann disease 
    ... shortage of red blood cells (anemia), an enlarged liver and spleen (hepatosplenomegaly), thinning of the skin, and ...
    https://medlineplus.gov/.../condition/camurati-engelmann-disease - Genetics
  3. Abdominal wall defect 
    ... the abdomen. Organs (typically the intestines, stomach, and liver) protrude through the opening into the umbilical cord ... have other birth defects and seldom have chromosome abnormalities or a genetic condition. Most affected individuals experience ...
    https://medlineplus.gov/genetics/condition/abdominal-wall-defect - Genetics
  4. Schindler disease 
    ... weakened and enlarged heart (cardiomyopathy), and an enlarged liver (hepatomegaly). In other cases, people with this form ...
    https://medlineplus.gov/genetics/condition/schindler-disease - Genetics
  5. Familial hemophagocytic lymphohistiocytosis 
    ... the immune system causes fever and damages the liver and spleen, resulting in enlargement of these organs. ... to neurological problems, familial hemophagocytic lymphohistiocytosis can cause abnormalities of the heart, kidneys, and other organs and ...
    https://medlineplus.gov/...milial-hemophagocytic-lymphohistiocytosis - Genetics
  6. Severe congenital neutropenia 
    ... infancy, including infections of the sinuses, lungs, and liver. Affected individuals can also develop fevers and inflammation ... as seizures, developmental delay, or heart and genital abnormalities. The incidence of severe congenital neutropenia is estimated ...
    https://medlineplus.gov/.../condition/severe-congenital-neutropenia - Genetics
  7. Nakajo-Nishimura syndrome 
    ... of Nakajo-Nishimura syndrome can include an enlarged liver and spleen (hepatosplenomegaly), a shortage of red blood ... syndrome. All three conditions are characterized by skin abnormalities and lipodystrophy. Although they are often considered separate ...
    https://medlineplus.gov/genetics/condition/nakajo-nishimura-syndrome - Genetics
  8. Pyruvate kinase deficiency 
    ... gene. The PKLR gene is active in the liver and in red blood cells, where it provides ... less red blood cell is lost: erythrocyte enzyme abnormalities of glycolysis. Blood. 2005 Dec 15;106(13): ...
    https://medlineplus.gov/.../condition/pyruvate-kinase-deficiency - Genetics
  9. ALG6-congenital disorder of glycosylation 
    ... many organs and tissues, including the brain, eyes, liver, and hormone-producing (endocrine) system. ALG6 This condition ...
    https://medlineplus.gov/...alg6-congenital-disorder-of-glycosylation - Genetics
  10. Generalized arterial calcification of infancy 
    ... protein. This protein is found primarily in the liver and kidneys, with small amounts in other tissues ...
    https://medlineplus.gov/...ralized-arterial-calcification-of-infancy - Genetics
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