Details of Disease

General Information of Disease (ID: DISTEABI)

Disease Name COFS syndrome
Synonyms COFS; Pena-Shokeir syndrome type 2; cerebrooculofacioskeletal syndrome; Cerebro Oculo Facio Skeletal Syndrome; cerebro-oculo-facio-skeletal syndrome
Definition Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement.
Disease Hierarchy
DISCPWH9: Autosomal recessive disease
DISN7YWO: DNA repair disease
DISR3JBJ: Syndromic microphthalmia
DISTEABI: COFS syndrome
Disease Identifiers
MONDO ID
MONDO_0008926
UMLS CUI
C5399761
MedGen ID
1762238
Orphanet ID
1466
SNOMED CT ID
41283003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ERCC1 OTNPYQHI Supportive Autosomal recessive [1]
ERCC2 OT1C8HQ4 Supportive Autosomal recessive [2]
ERCC5 OTQAKFJM Supportive Autosomal recessive [3]
ERCC6 OT2QZKSF Supportive Autosomal recessive [4]
------------------------------------------------------------------------------------

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.
2 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.
3 A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis--further evidence of genotype-phenotype correlation. Am J Med Genet A. 2014 Jul;164A(7):1777-83. doi: 10.1002/ajmg.a.36506. Epub 2014 Apr 3.
4 Cockayne Syndrome. 2000 Dec 28 [updated 2019 Aug 29]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.