MCID: STC001
MIFTS: 54

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, 26GTR, 30ICD10 via Orphanet, 39MESH via Orphanet, 47NIH Rare Diseases, 53Orphanet, 67UMLS, 68UMLS via Orphanet, 70Wikipedia
See all MalaCards sources

Aliases & Descriptions for Stickler Syndrome:

Name: Stickler Syndrome 11 70 23 47 24 25 53 26 13 67
Arthro-Ophthalmopathy 23 24
Hereditary Progressive Arthroophthalmopathy 53
Hereditary Arthro-Ophthalmo-Dystrophy 25
 
Hereditary Arthro-Ophthalmopathy 25
Stickler Syndrome, Type 1 67
Stickler Dysplasia 25

Characteristics:

Orphanet epidemiological data:

53
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
Orphanet53 ORPHA828
ICD10 via Orphanet30 Q87.0
MESH via Orphanet39 C537492
UMLS via Orphanet68 C0265253

Summaries for Stickler Syndrome

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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.

MalaCards based summary: Stickler Syndrome, also known as arthro-ophthalmopathy, is related to stickler syndrome, type ii and marshall syndrome, and has symptoms including malar flattening, epicanthus and long philtrum. 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 craniofacial and hearing/vestibular/ear.

Wikipedia:70 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 70)
idRelated DiseaseScoreTop Affiliating Genes
1stickler syndrome, type ii34.1COL11A1, COL2A1
2marshall syndrome32.1COL11A1, COL2A1
3weissenbacher-zweymuller syndrome31.5COL11A1, COL11A2, COL2A1
4stickler syndrome, type i12.5
5stickler syndrome, type iii12.4
6stickler syndrome, type v12.1
7stickler syndrome, type iv12.1
8autosomal recessive stickler syndrome11.8
9col11a1-related stickler syndrome11.8
10col11a2-related stickler syndrome11.8
11col2a1-associated stickler syndrome11.7
12col2a1-related stickler syndrome11.7
13col9a1-related stickler syndrome11.7
14col9a2-related stickler syndrome11.7
15stickler sydrome, type i, nonsyndromic ocular11.7
16otospondylomegaepiphyseal dysplasia10.8
17cortical defects, wormian bones, and dentinogenesis imperfecta10.7
18deafness, autosomal dominant 1310.4COL11A2, COL2A1
19moyamoya disease10.4COL11A1, COL2A1
20smed strudwick type10.4COL11A1, COL2A1
21bagassosis10.4COL11A1, COL11A2
22acromesomelic dysplasia10.3COL11A1, COL2A1
23humeroradial synostosis10.3COL11A1, COL11A2
24slc40a1-related hereditary hemochromatosis10.3COL11A1, COL2A1
25familial erythema nodosum10.3COL2A1, VCAN
26retinitis10.3
27vater/vacterl association10.2COL2A1, COL9A3
28achondrogenesis, type ii or hypochondrogenesis10.2COL11A1, COL2A1
29retinal detachment10.2
30myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency10.2COL11A1, COL11A2, COL2A1
31alveolar soft-part sarcoma10.2COL11A2, COL2A1
32wallerian degeneration10.1COL11A1, COL2A1, COL9A2
33toenail dystrophy, isolated10.1COL2A1, VCAN
34visual epilepsy10.1COL11A1, COL2A1, COL9A2
35ureteric orifice cancer10.0COL11A1, COL2A1, VCAN
36retinal dystrophy in systemic or cerebroretinal lipidoses10.0COL11A1, COL2A1, VCAN
37bone structure disease10.0COL9A2, COL9A3
38ischemic bone disease10.0COL2A1, COL9A2
39chromosomal disease9.9COL2A1, COL9A2, COL9A3
40intervertebral disc disease9.9COL11A1, COL9A2, COL9A3
41isolated congenital nasal pyriform aperture stenosis9.9COL9A1, COL9A2, COL9A3
42dental pulp disease9.9COL11A1, COL2A1
43myasthenia, limb-girdle, with tubular aggregates9.9COL9A1, COL9A2, COL9A3
44osteoarthritis9.9
45laryngomalacia9.9COL11A1, COL11A2, COL2A1, COL9A1
46osteonecrosis9.9COL9A1, COL9A2, COL9A3
47cataract9.8
48osteochondritis dissecans9.8
49johanson-blizzard syndrome9.7
50pierre robin syndrome9.7

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



Diseases related to stickler syndrome

Symptoms for Stickler Syndrome

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Human phenotypes related to Stickler Syndrome:

 63 53 (show all 74)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening63 53 hallmark (90%) Very frequent (99-80%) HP:0000272
2 epicanthus63 53 hallmark (90%) Very frequent (99-80%) HP:0000286
3 long philtrum63 53 hallmark (90%) Very frequent (99-80%) HP:0000343
4 telecanthus63 53 hallmark (90%) Very frequent (99-80%) HP:0000506
5 cataract63 53 hallmark (90%) Very frequent (99-80%) HP:0000518
6 retinal detachment63 53 hallmark (90%) Very frequent (99-80%) HP:0000541
7 myopia63 53 hallmark (90%) Very frequent (99-80%) HP:0000545
8 skeletal dysplasia63 53 hallmark (90%) Very frequent (99-80%) HP:0002652
9 arthralgia63 53 hallmark (90%) Very frequent (99-80%) HP:0002829
10 short nose63 53 hallmark (90%) Very frequent (99-80%) HP:0003196
11 abnormality of the vitreous humor63 53 hallmark (90%) Very frequent (99-80%) HP:0004327
12 depressed nasal bridge63 53 hallmark (90%) Very frequent (99-80%) HP:0005280
13 abnormality of epiphysis morphology63 53 hallmark (90%) Very frequent (99-80%) HP:0005930
14 hypoplasia of the zygomatic bone63 hallmark (90%) HP:0010669
15 glossoptosis63 53 typical (50%) Frequent (79-30%) HP:0000162
16 cleft palate63 53 typical (50%) Frequent (79-30%) HP:0000175
17 cleft upper lip63 53 typical (50%) Frequent (79-30%) HP:0000204
18 micrognathia63 53 typical (50%) Frequent (79-30%) HP:0000347
19 otitis media63 typical (50%) HP:0000388
20 sensorineural hearing impairment63 53 typical (50%) Frequent (79-30%) HP:0000407
21 depressed nasal ridge63 53 typical (50%) Frequent (79-30%) HP:0000457
22 anteverted nares63 53 typical (50%) Frequent (79-30%) HP:0000463
23 astigmatism63 53 typical (50%) Frequent (79-30%) HP:0000483
24 proptosis63 53 typical (50%) Frequent (79-30%) HP:0000520
25 pectus carinatum63 53 typical (50%) Frequent (79-30%) HP:0000768
26 platyspondyly63 53 typical (50%) Frequent (79-30%) HP:0000926
27 arachnodactyly63 53 typical (50%) Frequent (79-30%) HP:0001166
28 muscular hypotonia63 53 typical (50%) Frequent (79-30%) HP:0001252
29 joint dislocation63 53 typical (50%) Frequent (79-30%) HP:0001373
30 joint hypermobility63 typical (50%) HP:0001382
31 disproportionate tall stature63 53 typical (50%) Frequent (79-30%) HP:0001519
32 abnormality of the mitral valve63 typical (50%) HP:0001633
33 recurrent respiratory infections63 53 typical (50%) Frequent (79-30%) HP:0002205
34 scoliosis63 53 typical (50%) Frequent (79-30%) HP:0002650
35 bone pain63 53 typical (50%) Frequent (79-30%) HP:0002653
36 osteoarthritis63 53 typical (50%) Frequent (79-30%) HP:0002758
37 kyphosis63 53 typical (50%) Frequent (79-30%) HP:0002808
38 genu valgum63 53 typical (50%) Frequent (79-30%) HP:0002857
39 arrhythmia63 53 typical (50%) Frequent (79-30%) HP:0011675
40 hypertelorism63 53 occasional (7.5%) Occasional (29-5%) HP:0000316
41 strabismus63 53 occasional (7.5%) Occasional (29-5%) HP:0000486
42 glaucoma63 53 occasional (7.5%) Occasional (29-5%) HP:0000501
43 visual impairment63 53 occasional (7.5%) Very frequent (99-80%) HP:0000505
44 abnormality of dental enamel63 53 occasional (7.5%) Occasional (29-5%) HP:0000682
45 dental malocclusion63 occasional (7.5%) HP:0000689
46 ectopia lentis63 53 occasional (7.5%) Occasional (29-5%) HP:0001083
47 protrusio acetabuli63 53 occasional (7.5%) Occasional (29-5%) HP:0003179
48 skeletal muscle atrophy63 53 occasional (7.5%) Occasional (29-5%) HP:0003202
49 spinal canal stenosis63 53 occasional (7.5%) Occasional (29-5%) HP:0003416
50 short stature63 53 occasional (7.5%) Occasional (29-5%) HP:0004322
51 decreased body weight63 occasional (7.5%) HP:0004325
52 reduced bone mineral density63 53 occasional (7.5%) Occasional (29-5%) HP:0004349
53 hemiplegia/hemiparesis63 53 occasional (7.5%) Occasional (29-5%) HP:0004374
54 advanced eruption of teeth63 53 occasional (7.5%) Occasional (29-5%) HP:0006288
55 reduced number of teeth63 53 occasional (7.5%) Occasional (29-5%) HP:0009804
56 short hard palate63 53 occasional (7.5%) Occasional (29-5%) HP:0010290
57 inflammatory abnormality of the eye63 occasional (7.5%) HP:0100533
58 macroglossia53 Frequent (79-30%)
59 hypoplasia of the maxilla53 Very frequent (99-80%)
60 hearing impairment53 Frequent (79-30%)
61 chronic otitis media53 Frequent (79-30%)
62 uveitis53 Occasional (29-5%)
63 blindness53 Occasional (29-5%)
64 abnormal diaphysis morphology53 Occasional (29-5%)
65 slender build53 Occasional (29-5%)
66 mitral valve prolapse53 Frequent (79-30%)
67 gastroesophageal reflux53 Frequent (79-30%)
68 hip dislocation53 Occasional (29-5%)
69 abnormal form of the vertebral bodies53 Very frequent (99-80%)
70 cachexia53 Occasional (29-5%)
71 joint hyperflexibility53 Frequent (79-30%)
72 feeding difficulties in infancy53 Occasional (29-5%)
73 open bite53 Occasional (29-5%)
74 midface retrusion53 Very frequent (99-80%)

UMLS symptoms related to Stickler Syndrome:


clubbing, inguinal pain, inguinal mass

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 Syndrome26 24 COL9A2

Anatomical Context for Stickler Syndrome

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MalaCards organs/tissues related to Stickler Syndrome:

35
Eye, Bone, Skeletal muscle

Animal Models for Stickler Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Stickler Syndrome:

40
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

Publications for Stickler Syndrome

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Articles related to Stickler Syndrome:

(show top 50)    (show all 170)
idTitleAuthorsYear
1
A novel COL11A1 missense mutation in siblings with non-ocular Stickler syndrome. (27081569)
2016
2
Stickler Syndrome Type 1 with Short Stature and Atypical Ocular Manifestations. (28018693)
2016
3
Stickler syndrome associated with epilepsy: report of three cases. (25809783)
2015
4
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
5
Arthritis in Stickler syndrome: Inflammatory or degenerative? (26178174)
2015
6
LOXL3, encoding lysyl oxidase-like 3, is mutated in a family with autosomal recessive Stickler syndrome. (25663169)
2015
7
Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing. (25240749)
2014
8
Stickler syndrome type 1 accompanied by membranous vitreous anomaly in two Japanese sisters. (24164106)
2014
9
Stickler syndrome associated with congenital glaucoma. (23374481)
2013
10
Bilateral vitreous hemorrhage in a newborn with Stickler syndrome associated with a novel COL2A1 mutation. (21777803)
2011
11
A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome. (21671392)
2011
12
Stickler syndrome: an underdiagnosed disease. Report of a family. (22003765)
2011
13
Evidence of reduced bone turnover and disturbed mineralization process in a boy with Stickler syndrome. (20012270)
2010
14
Adult presentation of Stickler syndrome type III. (20112039)
2010
15
Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1. (20513134)
2010
16
A discussion of the physical and oral characteristics of Coffin-Lowry syndrome, Stickler syndrome, and Johanson-Blizzard syndrome. (19903636)
2009
17
Analysis of the vitreous membrane in a case of type 1 Stickler syndrome. (19089441)
2009
18
To push? or not to push?: Second stage management in a patient with Stickler syndrome at risk of retinal detachment. (19280503)
2009
19
Outcomes of surgery for retinal detachment in patients with Stickler syndrome: a comparison of two sequential 20-year cohorts. (17579881)
2007
20
Spontaneous involution of autologous lenses and phacoanaphylaxis reaction in Stickler syndrome. (16234470)
2005
21
A stop codon mutation in COL11A2 induces exon skipping and leads to non-ocular Stickler syndrome. (15372529)
2004
22
Synovial osteochondromatosis in hereditary arthro-ophthalmopathy (Wagner-Stickler syndrome). (12719932)
2003
23
Clinical variability of Stickler syndrome: role of exon 2 of the collagen COL2A1 gene. (12686304)
2003
24
Vitreous phenotype: genotype correlation in Stickler syndrome. (11954783)
2002
25
Occurrence of deletion of a COL2A1 allele as the mutation in Stickler syndrome shows that a collagen type II dosage effect underlies this syndrome. (12204008)
2002
26
Linkage analysis for prenatal diagnosis in a familial case of Stickler syndrome. (12150217)
2002
27
Stickler syndrome and vitreoretinal degeneration: correlation between locus mutation and vitreous phenotype. Apropos of a case. (11450497)
2001
28
The Stickler syndrome: case reports and literature review. (10970261)
2000
29
Clinical variability of Stickler syndrome with a COL2A1 haploinsufficiency mutation: implications for genetic counselling. (10819645)
2000
30
Stickler syndrome. (12472425)
2000
31
Genetics and hearing loss: a review of Stickler syndrome. (9777489)
1998
32
Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymueller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome). (9805126)
1998
33
Prophylactic laser photocoagulation in Stickler syndrome. (9091366)
1996
34
A-2-->G transition at the 3' acceptor splice site of IVS17 characterizes the COL2A1 gene mutation in the original Stickler syndrome kindred. (8737653)
1996
35
Hereditary arthro-ophthalmopathy (Stickler syndrome): a diagnosis to consider in familial premature osteoarthritis. (8000751)
1994
36
A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene. (7833911)
1994
37
Stickler syndrome: correlation between vitreoretinal phenotypes and linkage to COL 2A1. (7867814)
1994
38
The arthropathy of hereditary arthroophthalmopathy (Stickler syndrome). (1404165)
1992
39
Procollagen II gene mutation in Stickler syndrome. (1444917)
1992
40
Linkage study in a large pedigree with Stickler syndrome: exclusion of COL2A1 as the mutant gene. (1358786)
1992
41
Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy). (1677770)
1991
42
Intraarticular lipoma in Stickler syndrome. (2352904)
1990
43
The Stickler syndrome is closely linked to COL2A1, the structural gene for type II collagen. (3222200)
1988
44
Otolaryngological manifestations of the Stickler syndrome. (3436724)
1987
45
Hereditary arthro-ophthalmopathy (the Stickler syndrome). Report of a kindred with protrusio acetabuli. (880775)
1977
46
The Stickler syndrome presenting as a dominantly inherited cleft palate and blindness. (1219119)
1975
47
The Stickler syndrome (hereditary arthroophthalmopathy). (776247)
1975
48
Stickler syndrome. Report of a second Australian family. (1233443)
1975
49
The Stickler syndrome. (1201341)
1975
50
The Stickler syndrome. (4621768)
1972

Variations for Stickler Syndrome

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Clinvar genetic disease variations for Stickler Syndrome:

5 (show all 14)
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
3COL2A1NM_001844.4(COL2A1): c.85+1G> CSNVPathogenicrs727503882GRCh37Chr 12, 48398019: 48398019
4COL2A1NM_001844.4(COL2A1): c.908G> A (p.Gly303Asp)SNVPathogenicrs121912877GRCh37Chr 12, 48387608: 48387608
5COL2A1NM_001844.4(COL2A1): c.1510G> T (p.Gly504Cys)SNVPathogenicrs121912880GRCh37Chr 12, 48380136: 48380136
6COL2A1NM_001844.4(COL2A1): c.1999C> T (p.Leu667Phe)SNVPathogenicrs121912885GRCh37Chr 12, 48377218: 48377218
7COL2A1NM_001844.4(COL2A1): c.258C> A (p.Cys86Ter)SNVPathogenicrs794727261GRCh37Chr 12, 48393736: 48393736
8COL2A1NM_001844.4(COL2A1): c.1358G> C (p.Gly453Ala)SNVPathogenicrs794727339GRCh37Chr 12, 48380868: 48380868
9COL2A1NM_001844.4(COL2A1): c.1510G> A (p.Gly504Ser)SNVPathogenicrs121912880GRCh37Chr 12, 48380136: 48380136
10COL2A1NM_001844.4(COL2A1): c.1420-2A> CSNVPathogenicrs794727377GRCh37Chr 12, 48380228: 48380228
11COL2A1NM_001844.4(COL2A1): c.1924G> T (p.Gly642Ter)SNVPathogenicrs794727472GRCh37Chr 12, 48377887: 48377887
12COL2A1NM_001844.4(COL2A1): c.2015G> C (p.Gly672Ala)SNVPathogenicrs794727546GRCh37Chr 12, 48377202: 48377202
13COL2A1NM_001844.4(COL2A1): c.4447_4450delCCGG (p.Pro1483Serfs)deletionPathogenicrs794727761GRCh37Chr 12, 48367204: 48367207
14COL2A1NM_001844.4(COL2A1): c.1052delG (p.Gly351Alafs)deletionPathogenicrs398123628GRCh37Chr 12, 48383560: 48383560

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 13)
idSuper pathwaysScoreTop Affiliating Genes
19.7COL2A1, VCAN
29.5COL9A1, COL9A3
39.2COL9A1, COL9A2, COL9A3
4
Show member pathways
8.9COL2A1, COL9A1, COL9A2, COL9A3
58.9COL2A1, COL9A1, COL9A2, COL9A3
68.7COL9A1, COL9A2, COL9A3, VCAN
7
Show member pathways
7.6COL11A1, COL11A2, COL2A1, COL5A2, COL9A1, COL9A2
87.6COL11A1, 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
7.1COL11A1, COL11A2, COL2A1, COL5A2, COL9A1, COL9A2
13
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:000559210.4COL11A1, COL11A2
2collagen type IX trimerGO:00055949.8COL9A1, COL9A2, COL9A3
3collagen trimerGO:00055819.4COL11A1, COL11A2, COL2A1, COL5A2
4extracellular matrixGO:00310128.7COL11A1, COL2A1, COL5A2, VCAN
5proteinaceous extracellular matrixGO:00055788.0COL11A1, COL2A1, COL9A1, COL9A2, COL9A3, VCAN
6endoplasmic reticulum lumenGO:00057887.8COL11A1, COL11A2, COL2A1, COL5A2, COL9A1, COL9A2
7extracellular regionGO:00055766.6COL11A1, COL11A2, COL2A1, COL5A2, COL9A1, COL9A2

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1proteoglycan metabolic processGO:000602910.3COL11A1, COL2A1
2cartilage condensationGO:000150210.2COL11A1, COL2A1
3tissue homeostasisGO:000189410.2COL11A2, COL2A1
4inner ear morphogenesisGO:004247210.0COL11A1, COL2A1
5heart morphogenesisGO:00030079.9COL11A1, COL2A1
6skeletal system morphogenesisGO:00487059.9COL11A1, COL11A2, COL2A1
7chondrocyte differentiationGO:00020629.8COL11A2, COL2A1, COL9A1
8cartilage developmentGO:00512169.7COL11A1, COL11A2, COL2A1
9collagen catabolic processGO:00305749.2COL11A1, COL11A2, COL2A1, COL5A2
10sensory perception of soundGO:00076059.2COL11A1, COL11A2, COL2A1
11ossificationGO:00015039.1COL11A1, COL11A2, COL2A1, COL5A2
12collagen fibril organizationGO:00301998.7COL11A1, COL11A2, COL2A1, COL5A2
13skeletal system developmentGO:00015018.4COL11A2, COL2A1, COL5A2, COL9A2, VCAN
14extracellular matrix organizationGO:00301987.4COL11A1, COL2A1, COL5A2, COL9A1, COL9A2, COL9A3

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:00052019.0COL11A1, COL5A2, VCAN
2extracellular matrix structural constituent conferring tensile strengthGO:00300208.2COL11A2, COL2A1, COL9A1, COL9A2, COL9A3

Sources for Stickler Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet