"Abnormal circulating ceruloplasmin concentration"[Clinical Features] - MedGen

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Select item 3419821.

A rare disorder of iron metabolism and transport characterised by elevated serum ferritin levels, increased serum iron, increased transferrin saturation and heavy iron deposition in hepatocytes. Iron deposition has also been indicated in heart and bone marrow, while haematological examination of peripheral blood shows no abnormalities. [from SNOMEDCT_US]

MedGen UID:: 341982
•Concept ID:: C1851316
•: Disease or Syndrome

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Select item 18410212.

Neurodegeneration and seizures due to copper transport defect

Neurodegeneration and seizures due to copper transport defect (NSCT) is an autosomal recessive disorder of copper transport characterized by hypotonia, global developmental delay, seizures, and rapid brain atrophy (summary by Dame et al., 2023). [from OMIM]

MedGen UID:: 1841021
•Concept ID:: C5830385
•: Disease or Syndrome

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