Details of Disease | DrugMAP

General Information of Disease (ID: DIS80U6W)

Disease Name	Cerebrooculofacioskeletal syndrome 4
Synonyms	cerebrooculofacioskeletal syndrome 4; COFS4; cerebrooculofacioskeletal syndrome type 4; ERCC1 COFS syndrome; COFS syndrome caused by mutation in ERCC1
Definition	Any COFS syndrome in which the cause of the disease is a mutation in the ERCC1 gene.
Disease Hierarchy	DISTEABI: COFS syndrome DIS80U6W: Cerebrooculofacioskeletal syndrome 4
Disease Identifiers	MONDO ID MONDO_0012554 UMLS CUI C1853100 OMIM ID 610758 MedGen ID 342798

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
ERCC1	OTNPYQHI	Definitive	Autosomal recessive	[1]
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References

1	First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure. Am J Hum Genet. 2007 Mar;80(3):457-66. doi: 10.1086/512486. Epub 2007 Jan 29.