Hypomethylation syndrome is a syndrome which is characterized by disordered development caused by hypomethylation of various CpG islets in several genes. The exact genetic defect underlying this disorder in not yet discovered, but several genes affecting methylation are known already.
|Hereditary metabolic diseases|
|Coenzyme Q10 deficiency|
|Congenital disorder of glycosylation|
|Disorders of cobalamin metabolism|
|Disorders of iron metabolism|
|Disorders of urate metabolism|
|Disturbances in phosphate metabolism|
|Disturbances of glucose metabolism|
|Hereditary disorders protein metabolism|
|Hereditary lipid disorders|
|Hyperzincemia and hypercalprotectinemia|
|Recurrent hydatidiform mole 1|
|Recurrent hydatidiform mole 2|
|Lysosomal storage disease|
|Methionine adenosyltransferase deficiency|
|Urea cycle disorders|
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Boonen SE et al. (2008) Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings.
Mackay DJ et al. (2008) Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57.
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Ramalho-Santos M et al. (2002) "Stemness": transcriptional profiling of embryonic and adult stem cells.
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Li X et al. (2008) A maternal-zygotic effect gene, Zfp57, maintains both maternal and paternal imprints.
OMIM.ORG articleOmim 612192