MCID: STC001
MIFTS: 57

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:
10Disease Ontology, 68Wikipedia, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 12DISEASES, 51Orphanet, 24GTR, 65UMLS, 35MedlinePlus, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Stickler Syndrome:

Name: Stickler Syndrome 10 68 21 45 22 23 12 51 24 65
Cleft Lip and Palate 68 24 35
Hereditary Arthro-Ophthalmopathy 68 23
Arthro-Ophthalmopathy 21 22
 
Hereditary Progressive Arthroophthalmopathy 51
Hereditary Arthro-Ophthalmo-Dystrophy 23
Stickler Syndrome, Type 1 65
Stickler Dysplasia 23

Characteristics:

Orphanet epidemiological data:

51
stickler syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Childhood; Age of death: normal life expectancy

Classifications:



External Ids:

Disease Ontology10 DOID:0080046
Orphanet51 828
ICD10 via Orphanet28 Q87.5
MESH via Orphanet37 C537492
UMLS via Orphanet66 C0265253
UMLS65 C0265253, C2020284

Summaries for Stickler Syndrome

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MedlinePlus:35 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 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), and among its related pathways are Cell adhesion_ECM remodeling and Gastric cancer network 2. Affiliated tissues include eye, bone and kidney, and related mouse phenotypes are craniofacial and respiratory system.

NIH Rare Diseases:45 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

Genetics Home Reference:23 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:68 Stickler syndrome (hereditary progressive arthro-ophthalmopathy) is a group of genetic disorders... more...

GeneReviews summary 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 172)
idRelated DiseaseScoreTop Affiliating Genes
1stickler syndrome, type ii34.1COL11A1, COL2A1
2marshall syndrome30.9COL11A1, COL2A1
3weissenbacher-zweymuller syndrome30.3COL11A1, COL11A2, COL2A1
4stickler syndrome, type i12.3
5stickler syndrome, type iii12.3
6cleft lip and palate malrotation cardiopathy12.2
7uveal coloboma-cleft lip and palate-intellectual disability12.2
8stickler syndrome, type v12.1
9stickler syndrome, type iv12.1
10col11a2-related stickler syndrome12.0
11autosomal recessive stickler syndrome12.0
12col11a1-related stickler syndrome11.9
13col2a1-associated stickler syndrome11.9
14col2a1-related stickler syndrome11.9
15col9a1-related stickler syndrome11.9
16col9a2-related stickler syndrome11.9
17stickler syndrome col2a111.8
18stickler sydrome, type i, nonsyndromic ocular11.5
19pilotto syndrome11.5
20hay-wells syndrome11.5
21cleft lip11.3
22baraitser rodeck garner syndrome11.1
23ectropion inferior cleft lip and or palate11.1
24holzgreve syndrome11.1
25kuster syndrome11.1
26samson viljoen syndrome11.1
27zlotogora syndrome11.1
28blepharo-cheilo-odontic syndrome11.1
29skeletal dysplasia with wormian bone-multiple fractures-dentinogenesis imperfecta10.8
30spastic cerebral palsy10.6
31deafness, autosomal dominant 1310.5COL11A2, COL2A1
32trichuriasis10.5COL11A1, COL2A1
33smed strudwick type10.4COL11A1, COL2A1
34stickler syndrome10.4COL11A1, COL2A1
35ectodermal dysplasia10.4
36diphtheritic cystitis10.4COL2A1, COL9A3
37hypochondrogenesis10.4COL2A1, COL9A2
38retinitis10.3
39walbaum titran durieux crepin syndrome10.3COL2A1, VCAN
40holoprosencephaly10.3
41achondrogenesis, type ii or hypochondrogenesis10.3COL11A1, COL2A1
42retinal detachment10.3
43syndactyly10.2
44gingivitis10.2
45skeleto cardiac syndrome with thrombocytopenia10.2COL11A2, COL2A1
46myasthenic syndrome, congenital, 2a, slow-channel10.2COL11A1, COL11A2, COL2A1
47vitreoretinochoroidopathy dominant10.2COL11A1, COL2A1, COL9A2
48thymus gland disease10.2COL11A1, COL2A1, COL9A1
49fetal hydantoin syndrome10.2
50michels syndrome10.2

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:

 51 (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 epiphysis morphology hallmark (90%) HP:0005930
14 hypoplasia of the zygomatic bone 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 skeletal muscle atrophy 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

UMLS symptoms related to Stickler Syndrome:


inguinal mass, inguinal pain, clubbing

Drugs & Therapeutics for Stickler Syndrome

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Studies of Heritable Disorders of Connective TissueCompletedNCT00270686
2Study of Heritable Connective Tissue DisordersCompletedNCT00001641
3Study of Skeletal Disorders and Short StatureCompletedNCT00001754
4Family Myopia StudyCompletedNCT00341549
5Rare Disease Patient Registry: 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 Syndrome22 COL9A2

Anatomical Context for Stickler Syndrome

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MalaCards organs/tissues related to Stickler Syndrome:

33
Eye, Bone, Kidney, Endothelial, Breast, Tongue, Prostate

Animal Models for Stickler Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Stickler Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.5COL11A1, COL11A2, COL2A1, LOXL3, LRP2
2MP:00053888.4COL11A1, COL2A1, COL5A2, LOXL3, LRP2
3MP:00053918.3COL2A1, COL5A2, COL9A1, LOXL3, LRP2
4MP:00053718.2COL11A1, COL2A1, COL9A1, COL9A2, LRP2, VCAN
5MP:00053778.2COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, LRP2
6MP:00053787.3COL11A1, COL11A2, COL2A1, COL5A2, LOXL3, LRP2
7MP:00053906.4COL11A1, COL11A2, COL2A1, COL5A2, COL9A1, COL9A2

Publications for Stickler Syndrome

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Articles related to Stickler Syndrome:

(show top 50)    (show all 167)
idTitleAuthorsYear
1
Rhegmatogenous retinal detachments associated to Stickler syndrome in a tertiary eye care center in Saudi Arabia. (26730175)
2016
2
A novel COL11A1 missense mutation in siblings with non-ocular Stickler syndrome. (27081569)
2016
3
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
4
Non-ocular Stickler Syndrome With a Novel Mutation in COL11A2 Diagnosed by Massively Parallel Sequencing in Japanese Hearing Loss Patients. (25780254)
2015
5
Stickler syndrome associated with epilepsy: report of three cases. (25809783)
2015
6
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
7
Stickler syndrome. (26458481)
2015
8
Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing. (25240749)
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
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
12
Evidence of reduced bone turnover and disturbed mineralization process in a boy with Stickler syndrome. (20012270)
2010
13
Adult presentation of Stickler syndrome type III. (20112039)
2010
14
A discussion of the physical and oral characteristics of Coffin-Lowry syndrome, Stickler syndrome, and Johanson-Blizzard syndrome. (19903636)
2009
15
Analysis of the vitreous membrane in a case of type 1 Stickler syndrome. (19089441)
2009
16
Retrospective review of Stickler syndrome patients with cleft palate 1997-2004. (18844904)
2008
17
Visual complications of Stickler syndrome in paediatric patients with Robin sequence. (17442580)
2007
18
Outcomes of surgery for retinal detachment in patients with Stickler syndrome: a comparison of two sequential 20-year cohorts. (17579881)
2007
19
Difficulties in anesthetic management of patients with micrognathia: report of a patient with Stickler syndrome. (17138163)
2006
20
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
21
Synovial osteochondromatosis in hereditary arthro-ophthalmopathy (Wagner-Stickler syndrome). (12719932)
2003
22
Vitreous phenotype: genotype correlation in Stickler syndrome. (11954783)
2002
23
Identification of a stop codon mutation in exon 2 of the collagen 2A1 gene in a large stickler syndrome family. (12429249)
2002
24
Hearing impairment in Stickler syndrome. (12408087)
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
The hip in Stickler syndrome. (11521037)
2001
27
Hereditary arthro-ophthalmopathy (Stickler syndrome). (11127688)
2000
28
Molecular diagnosis of Stickler syndrome: a COL2A1 stop codon mutation screening strategy that is not compromised by mutant mRNA instability. (10706362)
2000
29
The Stickler syndrome: case reports and literature review. (10970261)
2000
30
Clinical and Molecular genetics of Stickler syndrome. (10353778)
1999
31
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
32
Hereditary arthro-ophthalmopathy (Stickler syndrome): a diagnosis to consider in familial premature osteoarthritis. (8000751)
1994
33
A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene. (7833911)
1994
34
Prenatal exclusion of Stickler syndrome. (7910400)
1994
35
Stickler Syndrome (20301479)
1993
36
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
37
The arthropathy of hereditary arthroophthalmopathy (Stickler syndrome). (1404165)
1992
38
Variability of Stickler syndrome. (1536174)
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
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 Wagner-Stickler syndrome-a genetic study. (526576)
1979
45
Hereditary arthro-ophthalmopathy (the Stickler syndrome). Report of a kindred with protrusio acetabuli. (880775)
1977
46
The Stickler syndrome (hereditary arthro-ophthalmopathy). (1247001)
1976
47
The Stickler syndrome presenting as a dominantly inherited cleft palate and blindness. (1219119)
1975
48
The Stickler syndrome (hereditary arthroophthalmopathy). (776247)
1975
49
50

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.85+1G> Csingle nucleotide variantPathogenicrs727503882GRCh37Chr 12, 48398019: 48398019
2COL2A1NM_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 trimerGO:00055819.8COL11A1, COL11A2
2collagen type IX trimerGO:00055949.1COL9A1, COL9A2, COL9A3

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1proteoglycan metabolic processGO:000602910.4COL11A1, COL2A1
2cartilage condensationGO:000150210.4COL11A1, COL2A1
3tissue homeostasisGO:000189410.3COL11A2, COL2A1
4skeletal system developmentGO:000150110.2COL2A1, COL9A2
5cartilage developmentGO:005121610.1COL11A1, COL2A1
6chondrocyte differentiationGO:00020629.8COL11A2, COL2A1, COL9A1
7palate developmentGO:00600219.8COL11A2, COL2A1
8extracellular matrix organizationGO:00301989.5COL11A1, COL11A2, COL2A1
9collagen fibril organizationGO:00301999.4COL11A1, COL11A2, COL2A1, COL5A2
10sensory perception of soundGO:00076059.2COL11A1, COL11A2, COL2A1
11collagen catabolic processGO:00305748.4COL11A1, COL2A1, COL5A2, COL9A1, COL9A3
12extracellular matrix disassemblyGO:00226177.5COL11A1, COL11A2, COL2A1, COL5A2, COL9A1, COL9A2

Sources for Stickler Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet