DNMT3Bbase: ICF syndrome

Version 1.5 last updated 21 August, 2008 contains 20 public entries


Curated:	Mauno Vihinen
Maintained by:	Jouni Väliaho
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Short description of the DNMT3Bbase :

Defects in DNMT3B are a cause of immunodeficiency-centromeric instability-facial anomalies syndrome. ICF is a rare autosomal recessive disorder characterized by a variable immunodeficiency, mild facial anomalies, and centromeric heterochromatin instability involving chromosomes 1, 9, and 16. ICF is biochemically characterized by hypomethylation of CpG sites in some regions of heterochromatin.

Other IMT services:
Immunodeficiency Resource (IDR)
Immunodeficiency Mutation Databases (MUTbase)
IDdiagnostics
Immunome - Database for genes and proteins of the Human Immune System
SH2base - Database for pathogenic SH2 domain mutations

IDbases are linked to University of California Santa Cruz (UCSC) genome browser: DNMT3Bbase