KEGG DISEASE: Stickler syndrome

KEGG

DISEASE: Stickler syndrome

Entry

H02072                      Disease

Name

Stickler syndrome

Subgroup

Autosomal dominant otospondylomegaepiphyseal dysplasia (OSMEDA)

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 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
Pathway-based classification of diseases [BR:br08402]
Cellular processes
  nt06548  Integrin signaling
   H02072  Stickler syndrome
  nt06539  Cytoskeleton in muscle cells
   H02072  Stickler syndrome

Pathway

Cytoskeleton in muscle cells

ECM-receptor interaction

PI3K-Akt signaling pathway

Integrin signaling

Focal adhesion

Network

nt06539 Cytoskeleton in muscle cells
nt06548 Integrin signaling

Gene

(STL1) COL2A1 [HSA:1280] [KO:K19719]
(STL2) COL11A1 [HSA:1301] [KO:K19721]
(STL3/OSMEDA) COL11A2 [HSA:1302] [KO:K19721]
(STL4) COL9A1 [HSA:1297] [KO:K08131]
(STL5) COL9A2 [HSA:1298] [KO:K08131]
(STL6) COL9A3 [HSA:1299] [KO:K08131]

Comment

STL3, also known as Stickler syndrome nonocular type, is related to otospondylomegaepiphyseal dysplasia [DS:H02079].

Other DBs

ICD-11:

MeSH:

C537492 C563709 C537493 C537494 C565177

OMIM:

108300 609508 604841 614134 614284 620022

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:16189708 (STL1)

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

PMID:15671297 (STL1, nonsyndromic ocular)

Authors

Richards AJ, Meredith S, Poulson A, Bearcroft P, Crossland G, Baguley DM, Scott JD, Snead MP

Title

A novel mutation of COL2A1 resulting in dominantly inherited rhegmatogenous retinal detachment.

Journal

Invest Ophthalmol Vis Sci 46:663-8 (2005)
DOI:10.1167/iovs.04-1017

Reference

PMID:8872475 (STL2)

Authors

Richards AJ, Yates JR, Williams R, Payne SJ, Pope FM, Scott JD, Snead MP

Title

A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen.

Journal

Hum Mol Genet 5:1339-43 (1996)
DOI:10.1093/hmg/5.9.1339

Reference

PMID:7833911 (STL3)

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

PMID:21421862 (STL4)

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

Reference

PMID:21671392 (STL5)

Authors

Baker S, Booth C, Fillman C, Shapiro M, Blair MP, Hyland JC, Ala-Kokko L

Title

A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome.

Journal

Am J Med Genet A 155A:1668-72 (2011)
DOI:10.1002/ajmg.a.34071

Reference

PMID:24273071 (STL6)

Authors

Faletra F, D'Adamo AP, Bruno I, Athanasakis E, Biskup S, Esposito L, Gasparini P

Title

Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene.

Journal

Am J Med Genet A 164A:42-7 (2014)
DOI:10.1002/ajmg.a.36165

LinkDB

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