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, 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
Arthro-Ophthalmopathy 23 24
Hereditary Progressive Arthroophthalmopathy 54
Hereditary Arthro-Ophthalmo-Dystrophy 25
 
Hereditary Arthro-Ophthalmopathy 25
Stickler Syndrome, Type 1 68
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 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 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 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 & Phenotypes for Stickler Syndrome

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Human phenotypes related to Stickler Syndrome:

 64 54 (show all 74)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening64 54 hallmark (90%) Very frequent (99-80%) HP:0000272
2 epicanthus64 54 hallmark (90%) Very frequent (99-80%) HP:0000286
3 long philtrum64 54 hallmark (90%) Very frequent (99-80%) HP:0000343
4 telecanthus64 54 hallmark (90%) Very frequent (99-80%) HP:0000506
5 cataract64 54 hallmark (90%) Very frequent (99-80%) HP:0000518
6 retinal detachment64 54 hallmark (90%) Very frequent (99-80%) HP:0000541
7 myopia64 54 hallmark (90%) Very frequent (99-80%) HP:0000545
8 skeletal dysplasia64 54 hallmark (90%) Very frequent (99-80%) HP:0002652
9 arthralgia64 54 hallmark (90%) Very frequent (99-80%) HP:0002829
10 short nose64 54 hallmark (90%) Very frequent (99-80%) HP:0003196
11 abnormality of the vitreous humor64 54 hallmark (90%) Very frequent (99-80%) HP:0004327
12 depressed nasal bridge64 54 hallmark (90%) Very frequent (99-80%) HP:0005280
13 abnormality of epiphysis morphology64 54 hallmark (90%) Very frequent (99-80%) HP:0005930
14 hypoplasia of the zygomatic bone64 hallmark (90%) HP:0010669
15 glossoptosis64 54 typical (50%) Frequent (79-30%) HP:0000162
16 cleft palate64 54 typical (50%) Frequent (79-30%) HP:0000175
17 cleft upper lip64 54 typical (50%) Frequent (79-30%) HP:0000204
18 micrognathia64 54 typical (50%) Frequent (79-30%) HP:0000347
19 otitis media64 typical (50%) HP:0000388
20 sensorineural hearing impairment64 54 typical (50%) Frequent (79-30%) HP:0000407
21 depressed nasal ridge64 54 typical (50%) Frequent (79-30%) HP:0000457
22 anteverted nares64 54 typical (50%) Frequent (79-30%) HP:0000463
23 astigmatism64 54 typical (50%) Frequent (79-30%) HP:0000483
24 proptosis64 54 typical (50%) Frequent (79-30%) HP:0000520
25 pectus carinatum64 54 typical (50%) Frequent (79-30%) HP:0000768
26 platyspondyly64 54 typical (50%) Frequent (79-30%) HP:0000926
27 arachnodactyly64 54 typical (50%) Frequent (79-30%) HP:0001166
28 muscular hypotonia64 54 typical (50%) Frequent (79-30%) HP:0001252
29 joint dislocation64 54 typical (50%) Frequent (79-30%) HP:0001373
30 joint hypermobility64 typical (50%) HP:0001382
31 disproportionate tall stature64 54 typical (50%) Frequent (79-30%) HP:0001519
32 abnormality of the mitral valve64 typical (50%) HP:0001633
33 recurrent respiratory infections64 54 typical (50%) Frequent (79-30%) HP:0002205
34 scoliosis64 54 typical (50%) Frequent (79-30%) HP:0002650
35 bone pain64 54 typical (50%) Frequent (79-30%) HP:0002653
36 osteoarthritis64 54 typical (50%) Frequent (79-30%) HP:0002758
37 kyphosis64 54 typical (50%) Frequent (79-30%) HP:0002808
38 genu valgum64 54 typical (50%) Frequent (79-30%) HP:0002857
39 arrhythmia64 54 typical (50%) Frequent (79-30%) HP:0011675
40 hypertelorism64 54 occasional (7.5%) Occasional (29-5%) HP:0000316
41 strabismus64 54 occasional (7.5%) Occasional (29-5%) HP:0000486
42 glaucoma64 54 occasional (7.5%) Occasional (29-5%) HP:0000501
43 visual impairment64 54 occasional (7.5%) Very frequent (99-80%) HP:0000505
44 abnormality of dental enamel64 54 occasional (7.5%) Occasional (29-5%) HP:0000682
45 dental malocclusion64 occasional (7.5%) HP:0000689
46 ectopia lentis64 54 occasional (7.5%) Occasional (29-5%) HP:0001083
47 protrusio acetabuli64 54 occasional (7.5%) Occasional (29-5%) HP:0003179
48 skeletal muscle atrophy64 54 occasional (7.5%) Occasional (29-5%) HP:0003202
49 spinal canal stenosis64 54 occasional (7.5%) Occasional (29-5%) HP:0003416
50 short stature64 54 occasional (7.5%) Occasional (29-5%) HP:0004322
51 decreased body weight64 occasional (7.5%) HP:0004325
52 reduced bone mineral density64 54 occasional (7.5%) Occasional (29-5%) HP:0004349
53 hemiplegia/hemiparesis64 54 occasional (7.5%) Occasional (29-5%) HP:0004374
54 advanced eruption of teeth64 54 occasional (7.5%) Occasional (29-5%) HP:0006288
55 reduced number of teeth64 54 occasional (7.5%) Occasional (29-5%) HP:0009804
56 short hard palate64 54 occasional (7.5%) Occasional (29-5%) HP:0010290
57 inflammatory abnormality of the eye64 occasional (7.5%) HP:0100533
58 macroglossia54 Frequent (79-30%)
59 hypoplasia of the maxilla54 Very frequent (99-80%)
60 hearing impairment54 Frequent (79-30%)
61 chronic otitis media54 Frequent (79-30%)
62 uveitis54 Occasional (29-5%)
63 blindness54 Occasional (29-5%)
64 abnormal diaphysis morphology54 Occasional (29-5%)
65 slender build54 Occasional (29-5%)
66 mitral valve prolapse54 Frequent (79-30%)
67 gastroesophageal reflux54 Frequent (79-30%)
68 hip dislocation54 Occasional (29-5%)
69 abnormal form of the vertebral bodies54 Very frequent (99-80%)
70 cachexia54 Occasional (29-5%)
71 joint hyperflexibility54 Frequent (79-30%)
72 feeding difficulties in infancy54 Occasional (29-5%)
73 open bite54 Occasional (29-5%)
74 midface retrusion54 Very frequent (99-80%)

UMLS symptoms related to Stickler Syndrome:


clubbing, inguinal pain, inguinal mass

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-359.9COL11A1, 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 170)
idTitleAuthorsYear
1
Retinal Detachment in a Combined Case of Stickler Syndrome and X-Linked Retinoschisis. (28060400)
2017
2
A novel COL11A1 missense mutation in siblings with non-ocular Stickler syndrome. (27081569)
2016
3
Stickler Syndrome Type 1 with Short Stature and Atypical Ocular Manifestations. (28018693)
2016
4
Rhegmatogenous retinal detachments associated to Stickler syndrome in a tertiary eye care center in Saudi Arabia. (26730175)
2016
5
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
6
Long-term surgical outcomes of retinal detachment in patients with Stickler syndrome. (27574392)
2016
7
Cephalometrics in Stickler syndrome: Objectification of the typical facial appearance. (27193475)
2016
8
Auditory phenotype in Stickler syndrome: results of audiometric analysis in 20 patients. (26786361)
2016
9
Mutation survey and genotype-phenotype analysis of COL2A1 and COL11A1 genes in 16 Chinese patients with Stickler syndrome. (27390512)
2016
10
Novel mutations in the COL2A1 gene in Japanese patients with Stickler syndrome. (27408751)
2016
11
Stickler syndrome associated with epilepsy: report of three cases. (25809783)
2015
12
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
13
Arthritis in Stickler syndrome: Inflammatory or degenerative? (26178174)
2015
14
LOXL3, encoding lysyl oxidase-like 3, is mutated in a family with autosomal recessive Stickler syndrome. (25663169)
2015
15
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
16
Non-ocular Stickler Syndrome With a Novel Mutation in COL11A2 Diagnosed by Massively Parallel Sequencing in Japanese Hearing Loss Patients. (25780254)
2015
17
Stickler syndrome. (26458481)
2015
18
Stickler syndrome. Epidemiology of retinal detachment. (25817961)
2015
19
A 360A^ giant retinal tear in Stickler syndrome. (25569319)
2015
20
A novel COL11A1 mutation affecting splicing in a patient with Stickler syndrome. (27081549)
2015
21
Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing. (25240749)
2014
22
Stickler syndrome type 1 accompanied by membranous vitreous anomaly in two Japanese sisters. (24164106)
2014
23
Autosomal recessive stickler syndrome due to a loss of function mutation in the COL9A3 gene. (24273071)
2014
24
Prevention of retinal detachment in Stickler syndrome: the Cambridge prophylactic cryotherapy protocol. (24793526)
2014
25
Osteoarthritis at young age, a diagnostic challenge: a case of stickler syndrome. (25598853)
2014
26
Stickler syndrome associated with congenital glaucoma. (23374481)
2013
27
Radiographic and tomographic analysis in patients with stickler syndrome type I. (23935403)
2013
28
Broadening the phenotype of LRP2 mutations: a new mutation in LRP2 causes a predominantly ocular phenotype suggestive of Stickler syndrome. (23992033)
2013
29
Deletions within COL11A1 in Type 2 stickler syndrome detected by multiplex ligation-dependent probe amplification (MLPA). (23621912)
2013
30
Bifid uvula and familial Stickler syndrome diagnosed prenatally before the sonographic "equals sign" landmark. (23771187)
2013
31
Alternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing loss. (23922384)
2013
32
COL2A1 gene disruption by a balanced translocation t(12;15)(q13;q22.2) in familial Stickler syndrome. (23918474)
2013
33
Audiometric characteristics of two Dutch families with non-ocular Stickler syndrome (COL11A2). (22796475)
2012
34
Importance of early diagnosis of Stickler syndrome in newborns. (22424767)
2012
35
Mosaicism in Stickler syndrome. (22522174)
2012
36
Hearing impairment in Stickler syndrome: a systematic review. (23110709)
2012
37
Bilateral vitreous hemorrhage in a newborn with Stickler syndrome associated with a novel COL2A1 mutation. (21777803)
2011
38
A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome. (21671392)
2011
39
Stickler syndrome: an underdiagnosed disease. Report of a family. (22003765)
2011
40
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
41
Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist. (21921955)
2011
42
Identification of the COL2A1 mutation in patients with type I Stickler syndrome using RNA from freshly isolated peripheral white blood cells. (21186996)
2011
43
Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene. (21421862)
2011
44
Early-onset progressive osteoarthritis with hereditary progressive ophtalmopathy or Stickler syndrome. (20462780)
2011
45
Evidence of reduced bone turnover and disturbed mineralization process in a boy with Stickler syndrome. (20012270)
2010
46
Adult presentation of Stickler syndrome type III. (20112039)
2010
47
Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1. (20513134)
2010
48
Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients. (20179744)
2010
49
Stickler syndrome in Pierre-Robin sequence prenatal ultrasonographic diagnosis and postnatal therapy: two cases report. (21375138)
2010
50
A discussion of the physical and oral characteristics of Coffin-Lowry syndrome, Stickler syndrome, and Johanson-Blizzard syndrome. (19903636)
2009

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:000559210.5COL11A1, COL11A2
2collagen type IX trimerGO:000559410.0COL9A1, COL9A2, COL9A3
3collagen trimerGO:00055819.6COL11A1, COL11A2, COL2A1, COL5A2
4extracellular matrixGO:00310129.4COL11A1, COL2A1, COL5A2, VCAN
5endoplasmic reticulum lumenGO:00057888.3COL11A1, COL11A2, COL2A1, COL5A2, COL9A1, COL9A2
6proteinaceous extracellular matrixGO:00055788.1COL11A1, COL2A1, COL9A1, COL9A2, COL9A3, VCAN
7extracellular regionGO:00055767.2COL11A1, COL11A2, COL2A1, COL5A2, COL9A1, COL9A2

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1cartilage condensationGO:000150210.5COL11A1, COL2A1
2heart morphogenesisGO:000300710.5COL11A1, COL2A1
3inner ear morphogenesisGO:004247210.5COL11A1, COL2A1
4proteoglycan metabolic processGO:000602910.5COL11A1, COL2A1
5cartilage developmentGO:005121610.2COL11A1, COL11A2, COL2A1
6chondrocyte differentiationGO:000206210.1COL11A2, COL2A1, COL9A1
7sensory perception of soundGO:000760510.0COL11A1, COL11A2, COL2A1
8tissue homeostasisGO:00018949.8COL11A2, COL2A1
9skeletal system morphogenesisGO:00487059.8COL11A1, COL11A2, COL2A1
10collagen catabolic processGO:00305749.5COL11A1, COL11A2, COL2A1, COL5A2
11collagen fibril organizationGO:00301999.5COL11A1, COL11A2, COL2A1, COL5A2
12ossificationGO:00015039.5COL11A1, COL11A2, COL2A1, COL5A2
13skeletal system developmentGO:00015018.8COL11A2, COL2A1, COL5A2, COL9A2, VCAN
14extracellular 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 constituentGO:00052019.1COL11A1, COL5A2, VCAN
2extracellular matrix structural constituent conferring tensile strengthGO:00300208.5COL11A2, COL2A1, COL9A1, COL9A2, COL9A3

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
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40MESH via Orphanet
41MGI
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50Novoseek
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53OMIM via Orphanet
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63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet