MCID: STC001
MIFTS: 51

Stickler Syndrome malady

Genetic diseases, Rare diseases, Eye diseases, Ear diseases, Bone diseases, Fetal diseases categories

Aliases & Classifications for Stickler Syndrome

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Sources:
9Disease Ontology, 63Wikipedia, 19GeneReviews, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 11DISEASES, 47Orphanet, 22GTR, 60UMLS, 32MedlinePlus, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Stickler Syndrome, Aliases & Descriptions:

Name: Stickler Syndrome 9 63 19 41 20 21 11 47 22 60
Cleft Lip and Palate 63 22 32
Hereditary Progressive Arthroophthalmopathy 41 47
Hereditary Arthro-Ophthalmopathy 63 21
 
Hereditary Arthro-Ophthalmo-Dystrophy 21
Arthro-Ophthalmopathy 19
Stickler Dysplasia 21


Classifications:



Characteristics (Orphanet epidemiological data):

47
stickler syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Childhood; Age of death: normal life expectancy


External Ids:

Disease Ontology9 DOID:0080046
Orphanet47 828
MESH via Orphanet34 C537492
ICD10 via Orphanet26 Q87.5
UMLS via Orphanet61 C0265253

Summaries for Stickler Syndrome

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MedlinePlus:32 Cleft lip and cleft palate are birth defects that occur when a baby's lip or mouth do not form properly. they happen early during pregnancy. a baby can have a cleft lip, a cleft palate, or both. a cleft lip happens if the tissue that makes up the lip does not join completely before birth. this causes an opening in the upper lip. the opening can be a small slit or a large opening that goes through the lip into the nose. it can be on one or both sides of the lip or, rarely, in the middle of the lip. children with a cleft lip also can have a cleft palate. the roof of the mouth is called the "palate." with a cleft palate, the tissue that makes up the roof of the mouth does not join correctly. babies may have both the front and back parts of the palate open, or they may have only one part open. children with a cleft lip or a cleft palate often have problems with feeding and talking. they also might have ear infections, hearing loss, and problems with their teeth. often, surgery can close the lip and palate. cleft lip surgery is usually done before age 12 months, and cleft palate surgery is done before 18 months. many children have other complications. they may need additional surgeries, dental and orthodontic care, and speech therapy as they get older. with treatment, most children with clefts do well and lead a healthy life. centers for disease control and prevention

MalaCards based summary: Stickler Syndrome, also known as cleft lip and palate, is related to retinal detachment 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), and among its related pathways are Neural Crest Differentiation and ECM proteoglycans. Affiliated tissues include eye, bone and tongue, and related mouse phenotypes are skeleton and hearing/vestibular/ear.

Genetics Home Reference:21 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.

NIH Rare Diseases:41 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

Wikipedia:63 Stickler syndrome (hereditary progressive arthro-ophthalmopathy) is a group of genetic disorders... more...

GeneReviews summary for stickler

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 Col2a1-Related Stickler Syndrome
Col9a1-Related Stickler Syndrome Col9a2-Related Stickler Syndrome
Col11a1-Related Stickler Syndrome Col11a2-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 223)
idRelated DiseaseScoreTop Affiliating Genes
1retinal detachment31.1COL2A1, COL11A1
2marshall syndrome31.0COL11A1
3osteochondritis dissecans30.6COL9A1, COL9A2
4cleft palate, isolated30.6COL2A1, COL11A1, COL11A2
5diastrophic dysplasia30.6COL2A1, COL9A2
6osteoarthritis30.5COL9A2, COL2A1, COL9A1, COL11A2
7myopia30.4COL11A2, COL11A1, COL2A1
8ehlers-danlos syndrome30.3COL2A1, COL5A2
9cleft lip11.5
10stickler syndrome, type i10.8
11stickler syndrome, type iii10.7
12stickler syndrome, type ii10.7
13ectodermal dysplasia10.6
14holoprosencephaly10.6
15retinitis10.6
16mental retardation10.6
17aicardi syndrome10.5
18gingivitis10.5
19syndactyly10.5
20uveal coloboma - cleft lip and palate - intellectual disability10.5
21fibrochondrogenesis10.5COL11A1
22autosomal recessive stickler syndrome10.5
23van der woude syndrome10.4
24anencephaly10.4
25gingival recession10.4
26otitis media10.4
27cleft lip and palate malrotation cardiopathy10.4
28stickler syndrome, type v10.4
29stickler syndrome, type iv10.4
30stickler syndrome col2a110.4
31hay-wells syndrome10.4
32holoprosencephaly-710.4
33pharyngitis10.4
34nasopharyngitis10.4
35tooth agenesis10.4
36fibrous dysplasia10.4
37hypertelorism, microtia, facial clefting syndrome10.4
38cervicitis10.4
39orofacial cleft10.4
40fetal hydantoin syndrome10.4
41iniencephaly10.4
42meningoencephalocele10.4
43michels syndrome10.4
44pilotto syndrome10.4
45cleft lip +/- cleft palate10.4
46blepharo-cheilo-odontic syndrome10.4
47otospondylomegaepiphyseal dysplasia10.4COL11A2, COL2A1
48weissenbacher-zweymuller syndrome10.3COL2A1, COL11A2
49intervertebral disc disease10.3COL9A2
50vitreous syneresis10.3COL2A1, COL11A1

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



Diseases related to stickler syndrome

Symptoms for Stickler Syndrome

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Symptoms:

 47 (show all 67)
  • depressed premaxillary region/midface
  • flat cheek bones/malar hypoplasia
  • hypoplastic maxillary bones/zygomatic bones/maxillary hypoplasia
  • cataract/lens opacification
  • vitreous anomalies/hyalitis/persistent vitreous vascularisation
  • retinal detachment
  • myopia
  • epicanthic folds
  • telecanthus/canthal dystopy
  • short/small nose
  • depressed nasal bridge
  • long philtrum
  • abnormal vertebral size/shape
  • dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia
  • epiphyseal anomaly
  • articular/joint pain/arthralgia
  • autosomal dominant inheritance
  • proptosis/exophthalmos
  • micrognathia/retrognathia/micrognathism/retrognathism
  • astigmatism
  • flattened nose
  • anteverted nares/nostrils
  • cleft lip
  • macroglossia/tongue protrusion/proeminent/hypertrophic
  • glossoptosis
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • hearing loss/hypoacusia/deafness
  • sensorineural deafness/hearing loss
  • chronic/relapsing otitis
  • pectus carinatum
  • kyphosis
  • scoliosis
  • platyspondyly
  • long hand/arachnodactyly
  • genu valgum
  • gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  • repeat respiratory infections
  • mitral valve prolapse/incompetence/insufficiency/regurgitation/ring anomaly
  • cardiac rhythm disorder/arrhythmia
  • hypotonia
  • bone pain
  • osteoarthritis
  • hyperextensible joints/articular hyperlaxity
  • joint dislocation/subluxation
  • marfanoid morphotype
  • hypertelorism
  • dental malocclusion
  • glaucoma
  • chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis
  • lens dislocation/luxation/subluxation/ectopia lentis
  • visual loss/blindness/amblyopia
  • strabismus/squint
  • short palate
  • anodontia/oligodontia/hypodontia
  • enamel anomaly
  • premature eruption of teeth/natal teeth
  • rachidian/spine canal stenosis
  • coxa profunda/acetabular protrusion
  • long limbs/dolichostenomelia
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • diaphyseal anomaly
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • wasted (excluding lipodystrophy)/poorly muscled build/cachexy
  • short stature/dwarfism/nanism
  • failure to thrive/difficulties for feeding in infancy/growth delay

HPO human phenotypes related to Stickler Syndrome:

(show all 58)
id Description Frequency HPO Source Accession
1 malar flattening hallmark (90%) HP:0000272
2 epicanthus hallmark (90%) HP:0000286
3 long philtrum hallmark (90%) HP:0000343
4 telecanthus hallmark (90%) HP:0000506
5 cataract hallmark (90%) HP:0000518
6 retinal detachment hallmark (90%) HP:0000541
7 myopia hallmark (90%) HP:0000545
8 skeletal dysplasia hallmark (90%) HP:0002652
9 arthralgia hallmark (90%) HP:0002829
10 short nose hallmark (90%) HP:0003196
11 abnormality of the vitreous humor hallmark (90%) HP:0004327
12 depressed nasal bridge hallmark (90%) HP:0005280
13 abnormality of the epiphyses hallmark (90%) HP:0005930
14 cheekbone underdevelopment hallmark (90%) HP:0010669
15 glossoptosis typical (50%) HP:0000162
16 cleft palate typical (50%) HP:0000175
17 cleft upper lip typical (50%) HP:0000204
18 micrognathia typical (50%) HP:0000347
19 otitis media typical (50%) HP:0000388
20 sensorineural hearing impairment typical (50%) HP:0000407
21 depressed nasal ridge typical (50%) HP:0000457
22 anteverted nares typical (50%) HP:0000463
23 astigmatism typical (50%) HP:0000483
24 proptosis typical (50%) HP:0000520
25 pectus carinatum typical (50%) HP:0000768
26 platyspondyly typical (50%) HP:0000926
27 arachnodactyly typical (50%) HP:0001166
28 muscular hypotonia typical (50%) HP:0001252
29 joint dislocation typical (50%) HP:0001373
30 joint hypermobility typical (50%) HP:0001382
31 disproportionate tall stature typical (50%) HP:0001519
32 abnormality of the mitral valve typical (50%) HP:0001633
33 recurrent respiratory infections typical (50%) HP:0002205
34 scoliosis typical (50%) HP:0002650
35 bone pain typical (50%) HP:0002653
36 osteoarthritis typical (50%) HP:0002758
37 kyphosis typical (50%) HP:0002808
38 genu valgum typical (50%) HP:0002857
39 arrhythmia typical (50%) HP:0011675
40 hypertelorism occasional (7.5%) HP:0000316
41 strabismus occasional (7.5%) HP:0000486
42 glaucoma occasional (7.5%) HP:0000501
43 visual impairment occasional (7.5%) HP:0000505
44 abnormality of dental enamel occasional (7.5%) HP:0000682
45 dental malocclusion occasional (7.5%) HP:0000689
46 ectopia lentis occasional (7.5%) HP:0001083
47 disproportionate tall stature occasional (7.5%) HP:0001519
48 protrusio acetabuli occasional (7.5%) HP:0003179
49 amyotrophy occasional (7.5%) HP:0003202
50 spinal canal stenosis occasional (7.5%) HP:0003416
51 short stature occasional (7.5%) HP:0004322
52 decreased body weight occasional (7.5%) HP:0004325
53 reduced bone mineral density occasional (7.5%) HP:0004349
54 hemiplegia/hemiparesis occasional (7.5%) HP:0004374
55 advanced eruption of teeth occasional (7.5%) HP:0006288
56 reduced number of teeth occasional (7.5%) HP:0009804
57 short hard palate occasional (7.5%) HP:0010290
58 inflammatory abnormality of the eye occasional (7.5%) HP:0100533

Drugs & Therapeutics for Stickler Syndrome

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Drug clinical trials:

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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 Syndrome20 22 COL9A2
2 Cleft Lip/palate22

Anatomical Context for Stickler Syndrome

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MalaCards organs/tissues related to Stickler Syndrome:

31
Eye, Bone, Tongue

Animal Models for Stickler Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Stickler Syndrome:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.9COL11A2, COL5A2, COL11A1, COL2A1, COL9A1
2MP:00053778.5COL11A2, COL11A1, COL2A1, COL9A1, HMX3

Publications for Stickler Syndrome

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Articles related to Stickler Syndrome:

(show top 50)    (show all 155)
idTitleAuthorsYear
1
Non-ocular Stickler Syndrome With a Novel Mutation in COL11A2 Diagnosed by Massively Parallel Sequencing in Japanese Hearing Loss Patients. (25780254)
2015
2
Stickler syndrome associated with epilepsy: report of three cases. (25809783)
2015
3
Stickler syndrome. Epidemiology of retinal detachment. (25817961)
2015
4
A 360A^ giant retinal tear in Stickler syndrome. (25569319)
2015
5
Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing. (25240749)
2014
6
Stickler syndrome type 1 accompanied by membranous vitreous anomaly in two Japanese sisters. (24164106)
2014
7
Stickler syndrome associated with congenital glaucoma. (23374481)
2013
8
Bilateral vitreous hemorrhage in a newborn with Stickler syndrome associated with a novel COL2A1 mutation. (21777803)
2011
9
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
10
Evidence of reduced bone turnover and disturbed mineralization process in a boy with Stickler syndrome. (20012270)
2010
11
Adult presentation of Stickler syndrome type III. (20112039)
2010
12
A discussion of the physical and oral characteristics of Coffin-Lowry syndrome, Stickler syndrome, and Johanson-Blizzard syndrome. (19903636)
2009
13
Analysis of the vitreous membrane in a case of type 1 Stickler syndrome. (19089441)
2009
14
Retrospective review of Stickler syndrome patients with cleft palate 1997-2004. (18844904)
2008
15
Visual complications of Stickler syndrome in paediatric patients with Robin sequence. (17442580)
2007
16
Outcomes of surgery for retinal detachment in patients with Stickler syndrome: a comparison of two sequential 20-year cohorts. (17579881)
2007
17
Difficulties in anesthetic management of patients with micrognathia: report of a patient with Stickler syndrome. (17138163)
2006
18
The Stickler syndrome: genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1. (12544472)
2003
19
Synovial osteochondromatosis in hereditary arthro-ophthalmopathy (Wagner-Stickler syndrome). (12719932)
2003
20
Vitreous phenotype: genotype correlation in Stickler syndrome. (11954783)
2002
21
Identification of a stop codon mutation in exon 2 of the collagen 2A1 gene in a large stickler syndrome family. (12429249)
2002
22
Hearing impairment in Stickler syndrome. (12408087)
2002
23
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
24
The hip in Stickler syndrome. (11521037)
2001
25
Hereditary arthro-ophthalmopathy (Stickler syndrome). (11127688)
2000
26
Molecular diagnosis of Stickler syndrome: a COL2A1 stop codon mutation screening strategy that is not compromised by mutant mRNA instability. (10706362)
2000
27
The Stickler syndrome: case reports and literature review. (10970261)
2000
28
Variation in the vitreous phenotype of Stickler syndrome can be caused by different amino acid substitutions in the X position of the type II collagen Gly-X-Y triple helix. (11007540)
2000
29
Clinical and Molecular genetics of Stickler syndrome. (10353778)
1999
30
Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha-2(XI) chain of type XI collagen. (9506662)
1998
31
Hereditary arthro-ophthalmopathy (Stickler syndrome): a diagnosis to consider in familial premature osteoarthritis. (8000751)
1994
32
A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene. (7833911)
1994
33
Prenatal exclusion of Stickler syndrome. (7910400)
1994
34
Stickler Syndrome (20301479)
1993
35
A fourth example suggests that premature termination codons in the COL2A1 gene are a common cause of the Stickler syndrome: analysis of the COL2A1 gene by denaturing gradient gel electrophoresis. (8406454)
1993
36
The arthropathy of hereditary arthroophthalmopathy (Stickler syndrome). (1404165)
1992
37
Variability of Stickler syndrome. (1536174)
1992
38
Procollagen II gene mutation in Stickler syndrome. (1444917)
1992
39
Linkage study in a large pedigree with Stickler syndrome: exclusion of COL2A1 as the mutant gene. (1358786)
1992
40
Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy). (1677770)
1991
41
Exclusion of COL2A1 as a candidate gene in a family with Wagner-Stickler syndrome. (2319589)
1990
42
Amplification of the COL2A1 3' variable region used for segregation analysis in a family with the Stickler syndrome. (1977683)
1990
43
The Stickler syndrome is closely linked to COL2A1, the structural gene for type II collagen. (3222200)
1988
44
The Stickler syndrome: evidence for close linkage to the structural gene for type II collagen. (2896625)
1987
45
The Wagner-Stickler syndrome-a genetic study. (526576)
1979
46
Hereditary arthro-ophthalmopathy (the Stickler syndrome). Report of a kindred with protrusio acetabuli. (880775)
1977
47
The Stickler syndrome (hereditary arthro-ophthalmopathy). (1247001)
1976
48
The Stickler syndrome presenting as a dominantly inherited cleft palate and blindness. (1219119)
1975
49
The Stickler syndrome (hereditary arthroophthalmopathy). (776247)
1975
50
Stickler syndrome. Presenting as a syndrome of cleft palate, myopia and blindness inherited as a dominant trait. (4218495)
1974

Variations for Stickler Syndrome

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Clinvar genetic disease variations for Stickler Syndrome:

6 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1COL11A1NM_080629.2(COL11A1): c.1910G> T (p.Gly637Val)single nucleotide variantPathogenicrs121912943GRCh37Chr 1, 103470189: 103470189
2COL11A1COL11A1, 54-BP EX DEL, AS, AG-TGdeletionPathogenic
3COL9A1NM_001851.4(COL9A1): c.883C> T (p.Arg295Ter)single nucleotide variantPathogenicrs121912931GRCh37Chr 6, 70990736: 70990736
4COL2A1NM_001844.4(COL2A1): c.2794C> T (p.Arg932Ter)single nucleotide variantPathogenicrs121912866GRCh37Chr 12, 48372481: 48372481
5COL2A1COL2A1, 1-BP DEL, EX40deletionPathogenic
6COL2A1NM_001844.4(COL2A1): c.625C> T (p.Arg209Ter)single nucleotide variantPathogenicrs121912869GRCh37Chr 12, 48389687: 48389687
7COL2A1NM_001844.4(COL2A1): c.3138delT (p.Gly1047Alafs)deletionPathogenicrs121912873GRCh37Chr 12, 48371410: 48371410
8COL2A1COL2A1, 1-BP DEL, EX50deletionPathogenic
9COL2A1COL2A1, IVS17, A-G, -2single nucleotide variantPathogenic
10COL2A1COL2A1, IVS25DS, G-A, +1single nucleotide variantPathogenic
11COL2A1NM_001844.4(COL2A1): c.1693C> T (p.Arg565Cys)single nucleotide variantPathogenicrs121912884GRCh37Chr 12, 48379358: 48379358
12COL9A2COL9A2, 8-BP DEL, NT843deletionPathogenic

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 pathways (with members indented)ScoreTop Affiliating Genes
19.9COL2A1, COL11A2
29.9COL9A2, COL9A1
3
Show member pathways
9.9COL9A1, COL9A2
49.9COL9A1, COL9A2
5
Show member pathways
Integrin-mediated cell adhesion36
Focal Adhesion36
9.2COL11A2, COL5A2, COL11A1, COL2A1
69.2COL11A2, COL5A2, COL11A1, COL2A1
79.2COL2A1, COL11A1, COL5A2, COL11A2
8
Show member pathways
8.6COL11A2, COL5A2, COL9A2, COL11A1, COL2A1, COL9A1
9
Show member pathways
8.6COL11A2, COL5A2, COL9A2, COL11A1, COL2A1, COL9A1
10
Show member pathways
8.6COL11A2, COL5A2, COL9A2, COL11A1, COL2A1, COL9A1
11
Show member pathways
8.6COL11A2, COL5A2, COL9A2, COL11A1, COL2A1, COL9A1
12
Show member pathways
8.6COL11A2, COL5A2, COL9A2, COL11A1, COL2A1, COL9A1
138.6COL9A1, COL2A1, COL11A1, COL9A2, COL5A2, COL11A2

Compounds for genes affiliated with Stickler Syndrome

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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 XIGO:00055929.7COL11A1, COL11A2
2collagen type IXGO:00055949.6COL9A2, COL9A1
3endoplasmic reticulum lumenGO:00057888.6COL9A1, COL2A1, COL11A1, COL9A2, COL5A2, COL11A2
4extracellular regionGO:00055768.6COL9A1, COL2A1, COL11A1, COL9A2, COL5A2, COL11A2

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1proteoglycan metabolic processGO:000602910.0COL2A1, COL11A1
2tissue homeostasisGO:00018949.9COL9A1, COL2A1
3palate developmentGO:00600219.9COL2A1, COL11A2
4cartilage condensationGO:00015029.8COL2A1, COL11A1
5sensory perception of soundGO:00076059.6COL11A2, COL11A1, COL2A1
6inner ear morphogenesisGO:00424729.6HMX3, COL2A1, COL11A1
7cartilage developmentGO:00512169.6COL2A1, COL11A2
8collagen fibril organizationGO:00301999.4COL2A1, COL11A1, COL5A2, COL11A2
9skeletal system developmentGO:00015019.4COL11A2, COL5A2, COL9A2, COL2A1
10axon guidanceGO:00074119.4COL5A2, COL9A2, COL2A1, COL9A1
11collagen catabolic processGO:00305748.9COL9A1, COL2A1, COL11A1, COL9A2, COL5A2, COL11A2
12extracellular matrix disassemblyGO:00226178.8COL11A2, COL5A2, COL9A2, COL11A1, COL2A1, COL9A1
13extracellular matrix organizationGO:00301988.8COL11A2, COL5A2, COL9A2, COL11A1, COL2A1, COL9A1

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:00052019.8COL11A1, COL5A2
2protein binding, bridgingGO:00306749.5COL11A1, COL11A2
3extracellular matrix structural constituent conferring tensile strengthGO:00300209.2COL9A1, COL2A1, COL9A2, COL11A2
4metal ion bindingGO:00468728.8COL11A2, COL5A2, COL11A1, COL2A1, COL9A1

Products for genes affiliated with Stickler Syndrome

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Sources for Stickler Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet