KEGG DISEASE: Cerebro-oculo-facio-skeletal syndrome

DISEASE: Cerebro-oculo-facio-skeletal syndrome

Entry

H02570                      Disease

Name

Cerebro-oculo-facio-skeletal syndrome

Description

Cerebro-oculo-facio-skeletal (COFS) syndrome is a rare autosomal recessive disorder with microcephaly, severe mental retardation, and death in childhood. COFS can result from mutations in ERCC1, ERCC2, ERCC5 and ERCC6.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2B  Syndromes with premature ageing appearance as a major feature
    H02570  Cerebro-oculo-facio-skeletal syndrome
Pathway-based classification of diseases [BR:br08402]
Replication and repair
  nt06502  Nucleotide excision repair
   H02570  Cerebro-oculo-facio-skeletal syndrome
  nt06508  Interstrand crosslink repair
   H02570  Cerebro-oculo-facio-skeletal syndrome

Pathway

hsa03420

Nucleotide excision repair

Network

nt06502 Nucleotide excision repair
nt06508 Interstrand crosslink repair

Gene

(COFS1) ERCC6 [HSA:2074] [KO:K10841]
(COFS2) ERCC2 [HSA:2068] [KO:K10844]
(COFS3) ERCC5 [HSA:2073] [KO:K10846]
(COFS4) ERCC1 [HSA:2067] [KO:K10849]

Other DBs

ICD-11:

LD2B

MeSH:

C562434 C565185 C565035

OMIM:

214150 610756 616570 610758

Reference

PMID:10739753 (ERCC6)

Authors

Meira LB, Graham JM Jr, Greenberg CR, Busch DB, Doughty AT, Ziffer DW, Coleman DM, Savre-Train I, Friedberg EC

Title

Manitoba aboriginal kindred with original cerebro-oculo- facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene.

Journal

Am J Hum Genet 66:1221-8 (2000)
DOI:10.1086/302867

Reference

PMID:11443545 (ERCC2)

Authors

Graham JM Jr, Anyane-Yeboa K, Raams A, Appeldoorn E, Kleijer WJ, Garritsen VH, Busch D, Edersheim TG, Jaspers NG

Title

Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy.

Journal

Am J Hum Genet 69:291-300 (2001)
DOI:10.1086/321295

Reference

PMID:24700531 (ERCC5)

Authors

Drury S, Boustred C, Tekman M, Stanescu H, Kleta R, Lench N, Chitty LS, Scott RH

Title

A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis--further evidence of genotype-phenotype correlation.

Journal

Am J Med Genet A 164A:1777-83 (2014)
DOI:10.1002/ajmg.a.36506

Reference

PMID:17273966 (ERCC1)

Authors

Jaspers NG, Raams A, Silengo MC, Wijgers N, Niedernhofer LJ, Robinson AR, Giglia-Mari G, Hoogstraten D, Kleijer WJ, Hoeijmakers JH, Vermeulen W

Title

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.

Journal

Am J Hum Genet 80:457-66 (2007)
DOI:10.1086/512486

LinkDB

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