Details of Disease

General Information of Disease (ID: DISG9L8Q)

Disease Name Cerebrooculofacioskeletal syndrome 2
Synonyms COFS syndrome caused by mutation in ERCC2; ERCC2 COFS syndrome; cerebrooculofacioskeletal syndrome type 2; cerebrooculofacioskeletal syndrome 2; COFS2
Definition Any COFS syndrome in which the cause of the disease is a mutation in the ERCC2 gene.
Disease Hierarchy
DISTEABI: COFS syndrome
DISG9L8Q: Cerebrooculofacioskeletal syndrome 2
Disease Identifiers
MONDO ID
MONDO_0012553
MESH ID
C565185
UMLS CUI
C1853102
OMIM ID
610756
MedGen ID
342799

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ERCC2 OT1C8HQ4 Definitive Autosomal recessive [1]
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References

1 Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy. Am J Hum Genet. 2001 Aug;69(2):291-300. doi: 10.1086/321295. Epub 2001 Jul 3.