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Results 21 - 30 of 104 for Abnormality of the liver
  1. Hereditary hemochromatosis 
    ... individuals may develop arthritis, liver disease (cirrhosis) or liver cancer, diabetes, heart abnormalities, or skin discoloration. The appearance and severity of ...
    https://medlineplus.gov/.../condition/hereditary-hemochromatosis - Genetics
  2. Asphyxiating thoracic dystrophy 
    ... the Sonic Hedgehog pathway, which may underlie the abnormalities of bone growth characteristic of asphyxiating thoracic dystrophy. Abnormal cilia in other tissues, such as the kidneys, liver, and retinas, cause the other signs and symptoms ...
    https://medlineplus.gov/.../asphyxiating-thoracic-dystrophy - Genetics
  3. NGLY1-congenital disorder of deglycosylation 
    ... with NGLY1-CDDG may also have problems with liver function. Some affected individuals have eye abnormalities, including degeneration of the nerves that carry information ...
    https://medlineplus.gov/...y1-congenital-disorder-of-deglycosylation - Genetics
  4. Mucopolysaccharidosis type I 
    ... of fluid in the brain (hydrocephalus), heart valve abnormalities, distinctive-looking facial features that are described as "coarse," an enlarged liver and spleen (hepatosplenomegaly), and a large tongue (macroglossia). ...
    https://medlineplus.gov/.../condition/mucopolysaccharidosis-type-i - Genetics
  5. Mucopolysaccharidosis type III 
    ... mild dysostosis multiplex, which refers to multiple skeletal abnormalities seen on x-ray. People with MPS III often have a slightly enlarged liver (mild hepatomegaly) or spleen (mild splenomegaly), and a ...
    https://medlineplus.gov/.../condition/mucopolysaccharidosis-type-iii - Genetics
  6. Simpson-Golabi-Behmel syndrome 
    ... defects, malformed or abnormally large kidneys, an enlarged liver and spleen (hepatosplenomegaly), and skeletal abnormalities. Additionally, the syndrome can affect the development of ...
    https://medlineplus.gov/.../condition/simpson-golabi-behmel-syndrome - Genetics
  7. GM1 gangliosidosis 
    ... with GM1 gangliosidosis type I develop an enlarged liver and spleen (hepatosplenomegaly) and skeletal abnormalities. Affected children often have seizures and profound intellectual ...
    https://medlineplus.gov/genetics/condition/gm1-gangliosidosis - Genetics
  8. Mucopolysaccharidosis type VII 
    ... macroglossia). Affected individuals also frequently develop an enlarged liver and spleen (hepatosplenomegaly), heart valve abnormalities, and a soft out-pouching around the belly- ...
    https://medlineplus.gov/.../condition/mucopolysaccharidosis-type-vii - Genetics
  9. Alpha thalassemia 
    ... and symptoms can include severe anemia, an enlarged liver and spleen (hepatosplenomegaly), heart defects, and abnormalities of the urinary system or genitalia. Without treatment, ...
    https://medlineplus.gov/genetics/condition/alpha-thalassemia - Genetics
  10. Deoxyguanosine kinase deficiency 
    ... deoxyguanosine kinase deficiency can have heart problems, brain abnormalities, or weakness of the eye muscles. People with the myopathic form typically do not have liver disease. Without intervention, most individuals with deoxyguanosine kinase ...
    https://medlineplus.gov/.../deoxyguanosine-kinase-deficiency - Genetics
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