KEGG   DISEASE: Fraser syndromeHelp
Entry
H00687                      Disease                                

Name
Fraser syndrome
Description
Fraser syndrome or cryptophthalmos is a rare autosomal recessive disorder characterized by major features such as cryptophthalmos with completely fused eyelids, partial syndactyly, renal abnormalities, and genital malformations.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H00687  Fraser syndrome
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2H  Syndromic genetic deafness
    H00687  Fraser syndrome
BRITE hierarchy
Gene
FRAS1 [HSA:80144] [KO:K23379]
GRIP1 [HSA:23426] [KO:K20251]
FREM2 [HSA:341640] [KO:K23380]
Other DBs
ICD-11: LD2H.0
ICD-10: Q87.0
MeSH: D058497
OMIM: 219000
Reference
  Authors
Slavotinek AM, Tifft CJ
  Title
Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes.
  Journal
J Med Genet 39:623-33 (2002)
DOI:10.1136/jmg.39.9.623
Reference
  Authors
Kabra M, Gulati S, Ghosh M, Menon PS
  Title
Fraser-cryptophthalmos syndrome.
  Journal
Indian J Pediatr 67:775-8 (2000)
DOI:10.1007/BF02723939
Reference
PMID:3099574
  Authors
Thomas IT, Frias JL, Felix V, Sanchez de Leon L, Hernandez RA, Jones MC
  Title
Isolated and syndromic cryptophthalmos.
  Journal
Am J Med Genet 25:85-98 (1986)
DOI:10.1002/ajmg.1320250111
Reference
  Authors
Petrou P, Makrygiannis AK, Chalepakis G
  Title
The Fras1/Frem family of extracellular matrix proteins: structure, function, and association with Fraser syndrome and the mouse bleb phenotype.
  Journal
Connect Tissue Res 49:277-82 (2008)
DOI:10.1080/03008200802148025
Reference
  Authors
Vogel MJ, van Zon P, Brueton L, Gijzen M, van Tuil MC, Cox P, Schanze D, Kariminejad A, Ghaderi-Sohi S, Blair E, Zenker M, Scambler PJ, Ploos van Amstel HK, van Haelst MM
  Title
Mutations in GRIP1 cause Fraser syndrome.
  Journal
J Med Genet 49:303-6 (2012)
DOI:10.1136/jmedgenet-2011-100590
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