MCID: STC001
MIFTS: 55

Stickler Syndrome malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Ear diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Stickler Syndrome

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Sources:
11Disease Ontology, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 27GTR, 31ICD10 via Orphanet, 40MESH via Orphanet, 48NIH Rare Diseases, 54Orphanet, 68UMLS, 69UMLS via Orphanet, 71Wikipedia
See all MalaCards sources

Aliases & Descriptions for Stickler Syndrome:

Name: Stickler Syndrome 11 71 23 48 24 25 54 27 13 68
Hereditary Progressive Arthroophthalmopathy 54
Hereditary Arthro-Ophthalmo-Dystrophy 25
Hereditary Arthro-Ophthalmopathy 25
 
Stickler Syndrome, Type 1 68
Arthro-Ophthalmopathy 24
Arthroophthalmopathy 23
Stickler Dysplasia 25

Characteristics:

Orphanet epidemiological data:

54
stickler syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Childhood; Age of death: normal life expectancy

GeneReviews:

23
Penetrance: penetrance is complete...


Classifications:



External Ids:

Disease Ontology11 DOID:0080046
Orphanet54 ORPHA828
ICD10 via Orphanet31 Q87.0
MESH via Orphanet40 C537492
UMLS via Orphanet69 C0265253

Summaries for Stickler Syndrome

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NIH Rare Diseases:48 Stickler syndrome is a group of hereditary connective tissue disorders characterized by distinctive facial features, eye abnormalities, hearing loss, and joint problems. the features vary widely among affected people. stickler syndrome type 1 may be divided into 2 subgroups: the membranous vitreous type and a predominantly ocular type. both are caused by mutations in the col2a1 gene. stickler syndrome type ii, sometimes called the beaded vitreous type, is caused by mutations in the col11a1 gene. stickler syndrome type iii, sometimes called the nonocular form, is caused by mutations in the col11a2 gene. these forms of stickler syndrome are inherited in an autosomal dominant manner. stickler syndrome type iv is caused by mutations in the col9a1 gene, and stickler syndrome type v is caused by mutations in the col9a2 gene. these types of stickler syndrome are inherited in an autosomal recessive manner. last updated: 2/8/2012

MalaCards based summary: Stickler Syndrome, also known as hereditary progressive arthroophthalmopathy, is related to stickler syndrome, type v and marshall syndrome, and has symptoms including Array, Array and Array. An important gene associated with Stickler Syndrome is COL2A1 (Collagen Type II Alpha 1 Chain), and among its related pathways are Cell adhesion_ECM remodeling and Gastric Cancer Network 2. Affiliated tissues include eye, bone and skeletal muscle, and related mouse phenotypes are Increased shRNA abundance (Z-score > 2) and craniofacial.

Genetics Home Reference:25 Stickler syndrome is a group of hereditary conditions characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. These signs and symptoms vary widely among affected individuals.

Wikipedia:71 Stickler syndrome (hereditary progressive arthro-ophthalmopathy) is a group of genetic disorders... more...

GeneReviews for NBK1302

Related Diseases for Stickler Syndrome

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Diseases in the Stickler Syndrome family:

Stickler Syndrome, Type V Stickler Syndrome, Type Ii
Stickler Syndrome, Type Iii Stickler Syndrome, Type Iv
Stickler Syndrome, Type I Col11a1-Related Stickler Syndrome
Col11a2-Related Stickler Syndrome Col2a1-Related Stickler Syndrome
Col9a1-Related Stickler Syndrome Col9a2-Related Stickler Syndrome
Autosomal Recessive Stickler Syndrome

Diseases related to Stickler Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 73)
idRelated DiseaseScoreTop Affiliating Genes
1stickler syndrome, type v33.1COL11A1, COL9A2, COL9A3
2marshall syndrome31.8COL11A1, COL2A1
3stickler syndrome, type i12.5
4stickler syndrome, type iii12.4
5stickler syndrome, type ii12.4
6stickler syndrome, type iv12.1
7autosomal recessive stickler syndrome11.8
8col11a1-related stickler syndrome11.8
9col11a2-related stickler syndrome11.8
10col2a1-associated stickler syndrome11.7
11col2a1-related stickler syndrome11.7
12col9a1-related stickler syndrome11.7
13col9a2-related stickler syndrome11.7
14stickler sydrome, type i, nonsyndromic ocular11.6
15otospondylomegaepiphyseal dysplasia10.8
16weissenbacher-zweymüller syndrome10.8
17cortical defects, wormian bones, and dentinogenesis imperfecta10.7
18retinitis10.2
19oto-palatal-digital syndrome10.2COL11A2, COL2A1
20fibrochondrogenesis 110.2COL11A1, COL2A1
21deafness, autosomal recessive 5310.2COL11A2, COL2A1
22plantar nerve lesion10.2COL11A1, COL2A1
23moyamoya disease10.2COL11A1, COL2A1
24retinal detachment10.2
25epiphyseal dysplasia, multiple, with myopia and deafness10.2COL11A1, COL2A1
26salt and pepper syndrome10.2COL11A1, COL11A2
27weaver johnson syndrome10.2COL2A1, VCAN
28albright's hereditary osteodystrophy10.2COL11A1, COL2A1
29smed strudwick type10.1COL11A1, COL2A1
30acromesomelic dysplasia10.1COL2A1, COL9A2
31vater/vacterl association10.1COL2A1, COL9A3
32deafness, autosomal dominant 1310.1COL11A1, COL11A2, COL2A1
33slti salem syndrome10.1COL11A2, COL2A1
34myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency10.1COL11A1, COL11A2, COL2A1
35warm antibody hemolytic anemia10.1COL11A1, COL2A1, COL9A2
36cerebral beriberi10.1COL9A2, COL9A3
37ureter cancer10.1COL11A1, COL2A1, VCAN
38adult-onset still's disease10.1COL11A1, COL2A1, VCAN
39toenail dystrophy, isolated10.0COL2A1, VCAN
40neuropathy, distal hereditary motor, type iia10.0COL11A1, COL2A1
41physical disorder10.0COL2A1, COL9A2, COL9A3
42laryngomalacia10.0COL11A1, COL11A2, COL2A1, COL9A1
43mild hemophilia a10.0COL9A1, COL9A2, COL9A3
44myopia, x-linked10.0COL9A1, COL9A2, COL9A3
45osteopetrosis10.0COL9A1, COL9A2, COL9A3
46immunodeficiency 3010.0COL9A1, COL9A2, COL9A3
47bone resorption disease9.9COL9A2, COL9A3
48osteoarthritis9.9
49intermediate uveitis9.9COL2A1, COL9A1, COL9A2, COL9A3
50cataract9.8

Graphical network of the top 20 diseases related to Stickler Syndrome:



Diseases related to stickler syndrome

Symptoms & Phenotypes for Stickler Syndrome

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Human phenotypes related to Stickler Syndrome:

 54 64 (show all 67)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macroglossia64 54 Frequent (79-30%) HP:0000158
2 glossoptosis64 54 Frequent (79-30%) HP:0000162
3 cleft palate64 54 Frequent (79-30%) HP:0000175
4 cleft upper lip64 54 Frequent (79-30%) HP:0000204
5 malar flattening64 54 Very frequent (99-80%) HP:0000272
6 epicanthus64 54 Very frequent (99-80%) HP:0000286
7 hypertelorism64 54 Occasional (29-5%) HP:0000316
8 hypoplasia of the maxilla64 54 Very frequent (99-80%) HP:0000327
9 long philtrum64 54 Very frequent (99-80%) HP:0000343
10 micrognathia64 54 Frequent (79-30%) HP:0000347
11 hearing impairment54 Frequent (79-30%)
12 chronic otitis media64 54 Frequent (79-30%) HP:0000389
13 sensorineural hearing impairment64 54 Frequent (79-30%) HP:0000407
14 depressed nasal ridge64 54 Frequent (79-30%) HP:0000457
15 anteverted nares64 54 Frequent (79-30%) HP:0000463
16 astigmatism64 54 Frequent (79-30%) HP:0000483
17 strabismus64 54 Occasional (29-5%) HP:0000486
18 glaucoma64 54 Occasional (29-5%) HP:0000501
19 visual impairment54 Very frequent (99-80%)
20 telecanthus64 54 Very frequent (99-80%) HP:0000506
21 cataract64 54 Very frequent (99-80%) HP:0000518
22 proptosis64 54 Frequent (79-30%) HP:0000520
23 retinal detachment64 54 Very frequent (99-80%) HP:0000541
24 myopia64 54 Very frequent (99-80%) HP:0000545
25 uveitis64 54 Occasional (29-5%) HP:0000554
26 blindness64 54 Occasional (29-5%) HP:0000618
27 abnormality of dental enamel64 54 Occasional (29-5%) HP:0000682
28 pectus carinatum64 54 Frequent (79-30%) HP:0000768
29 platyspondyly64 54 Frequent (79-30%) HP:0000926
30 abnormal diaphysis morphology54 Occasional (29-5%)
31 ectopia lentis64 54 Occasional (29-5%) HP:0001083
32 arachnodactyly64 54 Frequent (79-30%) HP:0001166
33 muscular hypotonia64 54 Frequent (79-30%) HP:0001252
34 joint dislocation54 Frequent (79-30%)
35 disproportionate tall stature64 54 Frequent (79-30%) HP:0001519
36 slender build64 54 Occasional (29-5%) HP:0001533
37 mitral valve prolapse64 54 Frequent (79-30%) HP:0001634
38 gastroesophageal reflux64 54 Frequent (79-30%) HP:0002020
39 recurrent respiratory infections64 54 Frequent (79-30%) HP:0002205
40 scoliosis64 54 Frequent (79-30%) HP:0002650
41 skeletal dysplasia64 54 Very frequent (99-80%) HP:0002652
42 bone pain64 54 Frequent (79-30%) HP:0002653
43 osteoarthritis64 54 Frequent (79-30%) HP:0002758
44 kyphosis64 54 Frequent (79-30%) HP:0002808
45 hip dislocation64 54 Occasional (29-5%) HP:0002827
46 arthralgia64 54 Very frequent (99-80%) HP:0002829
47 genu valgum64 54 Frequent (79-30%) HP:0002857
48 protrusio acetabuli64 54 Occasional (29-5%) HP:0003179
49 short nose64 54 Very frequent (99-80%) HP:0003196
50 skeletal muscle atrophy64 54 Occasional (29-5%) HP:0003202
51 abnormal form of the vertebral bodies54 Very frequent (99-80%)
52 spinal canal stenosis64 54 Occasional (29-5%) HP:0003416
53 short stature64 54 Occasional (29-5%) HP:0004322
54 cachexia64 54 Occasional (29-5%) HP:0004326
55 abnormality of the vitreous humor64 54 Very frequent (99-80%) HP:0004327
56 reduced bone mineral density64 54 Occasional (29-5%) HP:0004349
57 hemiplegia/hemiparesis64 54 Occasional (29-5%) HP:0004374
58 depressed nasal bridge64 54 Very frequent (99-80%) HP:0005280
59 joint hyperflexibility64 54 Frequent (79-30%) HP:0005692
60 abnormality of epiphysis morphology64 54 Very frequent (99-80%) HP:0005930
61 advanced eruption of teeth64 54 Occasional (29-5%) HP:0006288
62 feeding difficulties in infancy64 54 Occasional (29-5%) HP:0008872
63 reduced number of teeth64 54 Occasional (29-5%) HP:0009804
64 short hard palate64 54 Occasional (29-5%) HP:0010290
65 open bite64 54 Occasional (29-5%) HP:0010807
66 arrhythmia64 54 Frequent (79-30%) HP:0011675
67 midface retrusion64 54 Very frequent (99-80%) HP:0011800

GenomeRNAi Phenotypes related to Stickler Syndrome according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-1929.9COL11A1, COL5A2, LOXL3

MGI Mouse Phenotypes related to Stickler Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.1COL11A1, COL11A2, COL2A1, LOXL3, LRP2
2MP:00053778.8COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, LRP2
3MP:00053888.7COL11A1, COL2A1, COL5A2, LOXL3, LRP2
4MP:00053718.5COL11A1, COL2A1, COL9A1, COL9A2, LRP2, VCAN
5MP:00053787.9COL11A1, COL11A2, COL2A1, COL5A2, LOXL3, LRP2
6MP:00053917.9COL2A1, COL5A2, COL9A1, LOXL3, LRP2
7MP:00053907.0COL11A1, COL11A2, COL2A1, COL5A2, COL9A1, COL9A2

Drugs & Therapeutics for Stickler Syndrome

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Safety, Efficacy, and Tolerability Study of PF-06480605 in Subjects With Moderate to Severe Ulcerative Colitis.RecruitingNCT02840721Phase 2
2Studies of Heritable Disorders of Connective TissueCompletedNCT00270686
3Study of Heritable Connective Tissue DisordersCompletedNCT00001641
4Study of Skeletal Disorders and Short StatureCompletedNCT00001754
5Family Myopia StudyCompletedNCT00341549
6Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168

Search NIH Clinical Center for Stickler Syndrome

Genetic Tests for Stickler Syndrome

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Genetic tests related to Stickler Syndrome:

id Genetic test Affiliating Genes
1 Stickler Syndrome27 24 COL9A2

Anatomical Context for Stickler Syndrome

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MalaCards organs/tissues related to Stickler Syndrome:

36
Eye, Bone, Skeletal muscle

Publications for Stickler Syndrome

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Articles related to Stickler Syndrome:

(show top 50)    (show all 174)
idTitleAuthorsYear
1
A mild form of Stickler syndrome type II caused by mosaicism of COL11A1. (28315471)
2017
2
Foveal Hypoplasia in Patients with Stickler Syndrome. (28283280)
2017
3
Retinal Detachment in a Combined Case of Stickler Syndrome and X-Linked Retinoschisis. (28060400)
2017
4
Reduced penetrance in a large Caucasian pedigree with Stickler syndrome. (28095098)
2017
5
Osteoporosis in Stickler syndrome. A new family case with bone histology study. (28159459)
2017
6
Rhegmatogenous retinal detachments associated to Stickler syndrome in a tertiary eye care center in Saudi Arabia. (26730175)
2016
7
Auditory phenotype in Stickler syndrome: results of audiometric analysis in 20 patients. (26786361)
2016
8
Stickler Syndrome Type 1 with Short Stature and Atypical Ocular Manifestations. (28018693)
2016
9
Novel mutations in the COL2A1 gene in Japanese patients with Stickler syndrome. (27408751)
2016
10
Mutation survey and genotype-phenotype analysis of COL2A1 and COL11A1 genes in 16 Chinese patients with Stickler syndrome. (27390512)
2016
11
Cephalometrics in Stickler syndrome: Objectification of the typical facial appearance. (27193475)
2016
12
Long-term surgical outcomes of retinal detachment in patients with Stickler syndrome. (27574392)
2016
13
A novel COL11A1 missense mutation in siblings with non-ocular Stickler syndrome. (27081569)
2016
14
Two Likely Pathogenic Variants of COL2A1 in Unrelated Korean Patients With Ocular-Only Variants of Stickler Syndrome: The First Molecular Diagnosis in Korea. (26709265)
2016
15
Arthritis in Stickler syndrome: Inflammatory or degenerative? (26178174)
2015
16
Giant premacular bursa: a novel finding of the posterior vitreous in two patients with Stickler syndrome type 1 revealed by swept-source optical coherence tomography. (26245341)
2015
17
Use of External Distractors and the Role of Imaging Prior to Mandibular Distraction in Infants With Isolated Pierre Robin Sequence and Stickler Syndrome. (26540157)
2015
18
Stickler syndrome. (26458481)
2015
19
A 360A^ giant retinal tear in Stickler syndrome. (25569319)
2015
20
Non-ocular Stickler Syndrome With a Novel Mutation in COL11A2 Diagnosed by Massively Parallel Sequencing in Japanese Hearing Loss Patients. (25780254)
2015
21
A novel COL11A1 mutation affecting splicing in a patient with Stickler syndrome. (27081549)
2015
22
LOXL3, encoding lysyl oxidase-like 3, is mutated in a family with autosomal recessive Stickler syndrome. (25663169)
2015
23
Stickler syndrome associated with epilepsy: report of three cases. (25809783)
2015
24
Stickler syndrome. Epidemiology of retinal detachment. (25817961)
2015
25
Osteoarthritis at young age, a diagnostic challenge: a case of stickler syndrome. (25598853)
2014
26
Stickler syndrome type 1 accompanied by membranous vitreous anomaly in two Japanese sisters. (24164106)
2014
27
Prevention of retinal detachment in Stickler syndrome: the Cambridge prophylactic cryotherapy protocol. (24793526)
2014
28
Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing. (25240749)
2014
29
Autosomal recessive stickler syndrome due to a loss of function mutation in the COL9A3 gene. (24273071)
2014
30
COL2A1 gene disruption by a balanced translocation t(12;15)(q13;q22.2) in familial Stickler syndrome. (23918474)
2013
31
Radiographic and tomographic analysis in patients with stickler syndrome type I. (23935403)
2013
32
Broadening the phenotype of LRP2 mutations: a new mutation in LRP2 causes a predominantly ocular phenotype suggestive of Stickler syndrome. (23992033)
2013
33
Deletions within COL11A1 in Type 2 stickler syndrome detected by multiplex ligation-dependent probe amplification (MLPA). (23621912)
2013
34
Alternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing loss. (23922384)
2013
35
Stickler syndrome associated with congenital glaucoma. (23374481)
2013
36
Bifid uvula and familial Stickler syndrome diagnosed prenatally before the sonographic "equals sign" landmark. (23771187)
2013
37
Audiometric characteristics of two Dutch families with non-ocular Stickler syndrome (COL11A2). (22796475)
2012
38
Mosaicism in Stickler syndrome. (22522174)
2012
39
Importance of early diagnosis of Stickler syndrome in newborns. (22424767)
2012
40
Hearing impairment in Stickler syndrome: a systematic review. (23110709)
2012
41
Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist. (21921955)
2011
42
Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene. (21421862)
2011
43
A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome. (21671392)
2011
44
Early-onset progressive osteoarthritis with hereditary progressive ophtalmopathy or Stickler syndrome. (20462780)
2011
45
Identification of the COL2A1 mutation in patients with type I Stickler syndrome using RNA from freshly isolated peripheral white blood cells. (21186996)
2011
46
Bilateral vitreous hemorrhage in a newborn with Stickler syndrome associated with a novel COL2A1 mutation. (21777803)
2011
47
The clinical effectiveness and safety of prophylactic retinal interventions to reduce the risk of retinal detachment and subsequent vision loss in adults and children with Stickler syndrome: a systematic review. (21466760)
2011
48
Stickler syndrome: an underdiagnosed disease. Report of a family. (22003765)
2011
49
Evidence of reduced bone turnover and disturbed mineralization process in a boy with Stickler syndrome. (20012270)
2010
50
Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1. (20513134)
2010

Variations for Stickler Syndrome

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Clinvar genetic disease variations for Stickler Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1COL2A1NM_ 001844.4(COL2A1): c.3357_ 3358insCT (p.Glu1120Leufs)insertionPathogenicrs672601354GRCh37Chr 12, 48370672: 48370673
2COL2A1NM_ 001844.4(COL2A1): c.1191_ 1199dupTCCTGGGTC (p.Gly402_ Pro403insSerProGly)duplicationPathogenicrs672601355GRCh37Chr 12, 48381416: 48381424

Expression for genes affiliated with Stickler Syndrome

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Search GEO for disease gene expression data for Stickler Syndrome.

Pathways for genes affiliated with Stickler Syndrome

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Pathways related to Stickler Syndrome according to GeneCards Suite gene sharing:

(show all 12)
idSuper pathwaysScoreTop Affiliating Genes
19.7COL2A1, VCAN
29.5COL9A1, COL9A3
39.2COL9A1, COL9A2, COL9A3
48.9COL2A1, COL9A1, COL9A2, COL9A3
5
Show member pathways
8.9COL2A1, COL9A1, COL9A2, COL9A3
68.7COL9A1, COL9A2, COL9A3, VCAN
7
Show member pathways
7.6COL11A1, COL11A2, COL2A1, COL5A2, COL9A1, COL9A2
8
Show member pathways
7.1COL11A1, COL11A2, COL2A1, COL5A2, COL9A1, COL9A2
9
Show member pathways
7.1COL11A1, COL11A2, COL2A1, COL5A2, COL9A1, COL9A2
10
Show member pathways
7.1COL11A1, COL11A2, COL2A1, COL5A2, COL9A1, COL9A2
11
Show member pathways
7.1COL11A1, COL11A2, COL2A1, COL5A2, COL9A1, COL9A2
12
Show member pathways
6.6COL11A1, COL11A2, COL2A1, COL5A2, COL9A1, COL9A2

GO Terms for genes affiliated with Stickler Syndrome

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Cellular components related to Stickler Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1collagen type XI trimerGO:000559210.5COL11A1, COL11A2
2collagen type IX trimerGO:000559410.0COL9A1, COL9A2, COL9A3
3extracellular matrixGO:00310129.5COL11A1, COL2A1, COL5A2, VCAN
4extracellular spaceGO:00056158.9COL11A1, COL2A1, COL5A2, LOXL3, VCAN
5collagen trimerGO:00055818.4COL11A1, COL11A2, COL2A1, COL5A2, COL9A1, COL9A2
6endoplasmic reticulum lumenGO:00057887.8COL11A1, COL11A2, COL2A1, COL5A2, COL9A1, COL9A2
7extracellular regionGO:00055767.3COL11A1, COL11A2, COL2A1, COL5A2, COL9A1, COL9A2
8proteinaceous extracellular matrixGO:00055787.1COL11A1, COL11A2, COL2A1, COL5A2, COL9A1, COL9A2

Biological processes related to Stickler Syndrome according to GeneCards Suite gene sharing:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1cartilage condensationGO:000150210.5COL11A1, COL2A1
2chondrocyte differentiationGO:000206210.5COL11A2, COL2A1
3heart morphogenesisGO:000300710.5COL11A1, COL2A1
4inner ear morphogenesisGO:004247210.5COL11A1, COL2A1
5proteoglycan metabolic processGO:000602910.5COL11A1, COL2A1
6cartilage developmentGO:005121610.2COL11A1, COL11A2, COL2A1
7sensory perception of soundGO:000760510.0COL11A1, COL11A2, COL2A1
8palate developmentGO:006002110.0COL11A2, COL2A1, LOXL3
9tissue homeostasisGO:00018949.8COL11A2, COL2A1
10skeletal system morphogenesisGO:00487059.8COL11A1, COL11A2, COL2A1
11collagen catabolic processGO:00305749.5COL11A1, COL11A2, COL2A1, COL5A2
12collagen fibril organizationGO:00301999.5COL11A1, COL11A2, COL2A1, COL5A2
13ossificationGO:00015039.5COL11A1, COL11A2, COL2A1, COL5A2
14skeletal system developmentGO:00015018.8COL11A2, COL2A1, COL5A2, COL9A2, VCAN
15extracellular matrix organizationGO:00301988.1COL11A1, COL2A1, COL5A2, COL9A1, COL9A2, COL9A3

Molecular functions related to Stickler Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituent conferring tensile strengthGO:00300209.3COL11A2, COL2A1, COL9A1, COL9A2, COL9A3
2extracellular matrix structural constituentGO:00052019.1COL11A1, COL11A2, COL2A1, COL5A2, VCAN
3metal ion bindingGO:00468727.1COL11A1, COL11A2, COL2A1, COL5A2, COL9A1, LOXL3

Sources for Stickler Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet