KEGG   DISEASE: Fraser syndrome
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 in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2H  Syndromic genetic deafness
    H00687  Fraser syndrome
Gene
(FRASRS1) FRAS1 [HSA:80144] [KO:K23379]
(FRASRS2) FREM2 [HSA:341640] [KO:K23380]
(FRASRS3) GRIP1 [HSA:23426] [KO:K20251]
Other DBs
ICD-11: LD2H.0
MeSH: D058497
OMIM: 219000 617666 617667
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
PMID:12766769 (FRASRS1)
  Authors
McGregor L, Makela V, Darling SM, Vrontou S, Chalepakis G, Roberts C, Smart N, Rutland P, Prescott N, Hopkins J, Bentley E, Shaw A, Roberts E, Mueller R, Jadeja S, Philip N, Nelson J, Francannet C, Perez-Aytes A, Megarbane A, Kerr B, Wainwright B, Woolf AS, Winter RM, Scambler PJ
  Title
Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein.
  Journal
Nat Genet 34:203-8 (2003)
DOI:10.1038/ng1142
Reference
PMID:15838507 (FRASRS2)
  Authors
Jadeja S, Smyth I, Pitera JE, Taylor MS, van Haelst M, Bentley E, McGregor L, Hopkins J, Chalepakis G, Philip N, Perez Aytes A, Watt FM, Darling SM, Jackson I, Woolf AS, Scambler PJ
  Title
Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs.
  Journal
Nat Genet 37:520-5 (2005)
DOI:10.1038/ng1549
Reference
PMID:22510445 (FRASRS3)
  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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