KEGG   DISEASE: Stickler syndrome
Entry
H02072                      Disease                                

Name
Stickler syndrome
  Supergrp
Vitreoretinal degeneration [DS:H00805]
Description
Stickler syndrome (STL) is a hereditary connective tissue disorder of fibrillar collagen. It is characterized by ocular signs (myopia, vitreoretinal degeneration, retinal detachment and cataracts), arthropathy, deafness, cleft palate, micrognathia, and a characteristic flat face. Mutations in the COL2A1, COL11A1, COL11A2, COL9A1, and COL9A2 genes can cause Stickler syndrome.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H02072  Stickler syndrome
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2F  Syndromes with multiple structural anomalies, without predominant body system involvement
    H02072  Stickler syndrome
Related
pathway
hsa04512  ECM-receptor interaction
hsa04151  PI3K-Akt signaling pathway
hsa04510  Focal adhesion
Gene
(STL1) COL2A1 [HSA:1280] [KO:K19719]
(STL2) COL11A1 [HSA:1301] [KO:K19721]
(STL3) COL11A2 [HSA:1302] [KO:K19721]
(STL4) COL9A1 [HSA:1297] [KO:K08131]
(STL5) COL9A2 [HSA:1298] [KO:K08131]
Comment
STL3, also known as Stickler syndrome nonocular type, is related to otospondylomegaepiphyseal dysplasia.
Other DBs
ICD-11: LD2F.1Y
ICD-10: Q87.0
MeSH: C537492 C537493 C537494 C565177
OMIM: 108300 604841 184840 614134 614284
Reference
  Authors
Rishi P, Maheshwari A, Rishi E
  Title
Stickler syndrome.
  Journal
Indian J Ophthalmol 63:614-5 (2015)
DOI:10.4103/0301-4738.167114
Reference
PMID:7833911
  Authors
Brunner HG, van Beersum SE, Warman ML, Olsen BR, Ropers HH, Mariman EC
  Title
A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene.
  Journal
Hum Mol Genet 3:1561-4 (1994)
DOI:10.1093/hmg/3.9.1561
Reference
  Authors
Miyamoto Y, Nakashima E, Hiraoka H, Ohashi H, Ikegawa S
  Title
A type II collagen mutation also results in oto-spondylo-megaepiphyseal dysplasia.
  Journal
Hum Genet 118:175-8 (2005)
DOI:10.1007/s00439-005-0058-0
Reference
  Authors
Nikopoulos K, Schrauwen I, Simon M, Collin RW, Veckeneer M, Keymolen K, Van Camp G, Cremers FP, van den Born LI
  Title
Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene.
  Journal
Invest Ophthalmol Vis Sci 52:4774-9 (2011)
DOI:10.1167/iovs.10-7128

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