Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019209 (hepatomegaly)
 5,798 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 12-year-old girl with congenital dyserythropoietic anemia, type I, was diagnosed as having hemochromatosis. Deferoxamine was given subcutaneously for 14 months. Iron overload, as measured by liver iron and serum ferritin levels, was reduced substantially, liver function tests improved, and hepatomegaly decreased. Toxicity was negligible.
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PMID:Use of subcutaneous deferoxamine in a child with hemochromatosis associated with congenital dyserythropoietic anemia, type I. 707 63

Congenital dyserythropoietic anemia (CDA) type I is an inherited disorder characterized by macrocytic anemia with pathognomonic morphologic ultrastructural features of the erythroid precursors. The authors recently cloned the CDAN1 gene and identified one founder missense mutation in all of their Bedouin patients. In a previous study, the authors found that the majority of their 31 Bedouin patients had anemia and jaundice during the first month of life and required blood transfusions; some had persistent pulmonary hypertension. In the present retrospective evaluation of 70 Bedouin patients with CDA type I, the authors more than doubled the number. Forty-five (64%) patients were symptomatic in the neonatal period, 29 (65%) had hepatomegaly, 24 (53%) had early jaundice, 11 (27%) were born small for gestational age, 7 (15%) had persistent pulmonary hypertension, and 6 (13%) had direct hyperbilirubinemia and another 6 (13%) had transient thrombocytopenia. Thirty-six of the symptomatic neonates (80%) required at least one blood transfusion. These results confirm the authors' previous findings and add neonatal manifestations not previously described, particularly hyperbilirubinemia and thrombocytopenia. Early diagnosis of CDA type I may be beneficial in light of the potential efficacy of alpha-interferon in avoiding transfusions in some patients.
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PMID:A comprehensive study of the neonatal manifestations of congenital dyserythropoietic anemia type I. 1554 10

Congenital dyserythropoietic anaemia (CDA) type I is a rare blood disorder characterised by moderate to severe macrocytic anaemia and hepatomegaly, with spongy heterochromatin and inter-nuclear bridges seen in bone marrow erythroblasts. The vast majority of cases of CDA type I are caused by mutations in the CDAN1 gene. The product of CDAN1 is Codanin-1, which interacts the histone chaperone ASF1 in the cytoplasm. Codanin-1 is a negative regulator of chromatin replication, sequestering ASF1 in the cytoplasm, restraining histone deposition and thereby limiting DNA replication. The remainder of CDA-I cases are caused by mutations in the C15ORF41 gene, but very little is known about the product of this gene. Here, we report that C15ORF41 forms a tight, near-stoichiometric complex with Codanin1 in human cells, interacting with the C-terminal region of Codanin-1. We present the characterisation of the C15ORF41-Codanin-1 complex in humans in cells and in vitro, and demonstrate that Codanin-1 appears to sequester C15ORF41 in the cytoplasm as previously shown for ASF1. The findings in this study have major implications for understanding the functions of C15ORF41 and Codanin-1, and the aetiology of CDA-I.
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PMID:A complex comprising C15ORF41 and Codanin-1: the products of two genes mutated in congenital dyserythropoietic anaemia type I (CDA-I). 3223 77