Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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Hypomethylation syndrome

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.

Systematic

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
Food intolerance
Genetic hyperbilirubinemia
Glycolipidosis
HADH deficiency
Hereditary disorders protein metabolism
Hereditary lipid disorders
Hypercatabolic hypoproteinemia
Hyperzincemia and hypercalprotectinemia
Hypomagnesemia
Hypomethylation syndrome
DNMT1
DNMT3A
DNMT3B
KHDC3L
MECP2
NLRP2
NLRP7
Recurrent hydatidiform mole 1
NLRP7
Recurrent hydatidiform mole 2
KHDC3L
ZFP57
Lysosomal storage disease
MELAS syndrome
Methionine adenosyltransferase deficiency
Methylmalonic aciduria
Urea cycle disorders

References:

1.

Caliebe A et al. (2014) A familial disorder of altered DNA-methylation.

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2.

Boonen SE et al. (2008) Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings.

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3.

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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4.

Okazaki S et al. (1994) A novel nuclear protein with zinc fingers down-regulated during early mammalian cell differentiation.

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5.

Ramalho-Santos M et al. (2002) "Stemness": transcriptional profiling of embryonic and adult stem cells.

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6.

Ivanova NB et al. (2002) A stem cell molecular signature.

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7.

Alonso MB et al. (2004) Identification and characterization of ZFP-57, a novel zinc finger transcription factor in the mammalian peripheral nervous system.

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8.

Akagi T et al. (2005) Identification of Zfp-57 as a downstream molecule of STAT3 and Oct-3/4 in embryonic stem cells.

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9.

Li X et al. (2008) A maternal-zygotic effect gene, Zfp57, maintains both maternal and paternal imprints.

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10.

OMIM.ORG article

Omim 612192 external link
Update: Aug. 14, 2020
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