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Results 81 - 90 of 104 for Abnormality of the liver
  1. Ataxia neuropathy spectrum 
    ... and symptoms can include involuntary muscle twitches (myoclonus), liver disease, depression, migraine headaches, or blindness. The prevalence ... deletion occurs most commonly in muscle, brain, or liver cells. MtDNA depletion causes a decrease in cellular ...
    https://medlineplus.gov/.../condition/ataxia-neuropathy-spectrum - Genetics
  2. Aicardi-Goutières syndrome 
    ... a combination of features that include an enlarged liver and spleen (hepatosplenomegaly), elevated blood levels of liver enzymes, and a shortage of blood cells called ...
    https://medlineplus.gov/.../condition/aicardi-goutieres-syndrome - Genetics
  3. Carbonic anhydrase VA deficiency 
    ... production of a substance called bicarbonate in the liver. These imbalances lead to the signs and symptoms ... anhydrase VA enzyme is particularly important in the liver, where it provides bicarbonate needed by four enzymes ...
    https://medlineplus.gov/.../carbonic-anhydrase-va-deficiency - Genetics
  4. Hyperferritinemia-cataract syndrome 
    ... can be mistaken for a sign of certain liver disorders. These conditions result in excess iron in ... unnecessary treatments or invasive test procedures such as liver biopsies. Hyperferritinemia-cataract syndrome has been estimated to ...
    https://medlineplus.gov/.../hyperferritinemia-cataract-syndrome - Genetics
  5. SRD5A3-congenital disorder of glycosylation 
    ... unusually small red blood cells (microcytic anemia), and liver problems. SRD5A3-CDG appears to be a rare ... in children - Histopathological and ultrastructural changes in the liver. Pediatr Neonatol. 2021 May;62(3):278-283. ...
    https://medlineplus.gov/...d5a3-congenital-disorder-of-glycosylation - Genetics
  6. Wolfram syndrome 
    ... as the pancreas, brain, heart, bones, muscles, lung, liver, and kidneys. Within cells, wolframin is located in ... Citation on PubMed Kanki T, Klionsky DJ. Mitochondrial abnormalities drive cell death in Wolfram syndrome 2. Cell ...
    https://medlineplus.gov/genetics/condition/wolfram-syndrome - Genetics
  7. PDGFRB-associated chronic eosinophilic leukemia 
    ... can have an enlarged spleen (splenomegaly) or enlarged liver (hepatomegaly). Some affected individuals develop skin rashes, likely ... associated chronic eosinophilic leukemia. The most common genetic abnormality in this condition results from a rearrangement (translocation) ...
    https://medlineplus.gov/...-associated-chronic-eosinophilic-leukemia - Genetics
  8. Alpha-mannosidosis 
    ... impairments; increased risk of infections; enlargement of the liver and spleen (hepatosplenomegaly); a buildup of fluid in ...
    https://medlineplus.gov/genetics/condition/alpha-mannosidosis - Genetics
  9. Sialidosis 
    ... fetalis). Affected infants may also have an enlarged liver and spleen (hepatosplenomegaly), abnormal bone development (dysostosis multiplex), ... may include mildly "coarse" facial features, mild bone abnormalities, cherry-red spots, myoclonus, intellectual disability, and dark ...
    https://medlineplus.gov/genetics/condition/sialidosis - Genetics
  10. D-bifunctional protein deficiency 
    ... the bones of the skull (fontanelle). An enlarged liver (hepatomegaly) occurs in about half of affected individuals. ... brain development and leukodystrophy likely underlie the neurological abnormalities that occur in D-bifunctional protein deficiency. HSD17B4 ...
    https://medlineplus.gov/.../d-bifunctional-protein-deficiency - Genetics
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