KEGG DISEASE: 脳・眼・顔・骨格症候群

DISEASE: 脳・眼・顔・骨格症候群

エントリ

H02570

名称

脳・眼・顔・骨格症候群

概要

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.

カテゴリ

先天奇形

階層分類

ICD-11 による疾患分類 [BR:jp08403]
20 発達異常
  多発性の発達異常または症候群
   LD2B  主な特徴として早老性外観を伴う症候群
    H02570  脳・眼・顔・骨格症候群
パスウェイに基づく疾患分類 [BR:jp08402]
複製と修復
  nt06502  ヌクレオチド除去修復
   H02570  脳・眼・顔・骨格症候群
  nt06508  鎖間架橋修復
   H02570  脳・眼・顔・骨格症候群

パスウェイ

hsa03420

Nucleotide excision repair

ネットワーク

nt06502 Nucleotide excision repair
nt06508 Interstrand crosslink repair

病因遺伝子

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

リンク

ICD-11:

LD2B

ICD-10:

Q87.1

OMIM:

214150 610756 616570 610758

文献

PMID:10739753 (ERCC6)

著者

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

タイトル

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

雑誌

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

文献

PMID:11443545 (ERCC2)

著者

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

タイトル

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

雑誌

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

文献

PMID:24700531 (ERCC5)

著者

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

タイトル

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

雑誌

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

文献

PMID:17273966 (ERCC1)

著者

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

タイトル

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.

雑誌

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

LinkDB

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