MCID: STC001
MIFTS: 57

Stickler Syndrome

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

Aliases & Classifications for Stickler Syndrome

MalaCards integrated aliases for Stickler Syndrome:

Name: Stickler Syndrome 12 76 24 53 25 59 37 29 6 15 40 73
Hereditary Progressive Arthroophthalmopathy 59
Hereditary Arthro-Ophthalmo-Dystrophy 25
Hereditary Arthro-Ophthalmopathy 25
Stickler Syndrome, Type 1 73
Arthroophthalmopathy 24
Stickler Dysplasia 25

Characteristics:

Orphanet epidemiological data:

59
stickler syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Childhood; Age of death: normal life expectancy;

GeneReviews:

24
Penetrance Penetrance is complete...

Classifications:



Summaries for Stickler Syndrome

NIH Rare Diseases : 53 Stickler syndrome is a group of hereditary connective tissue disorders characterized by distinctive facial features, eye abnormalities, hearing loss, and joint problems. The symptoms of Stickler syndrome may vary but include near-sightedness (myopia), retinal detachment, underdevelopment of the middle of the face, and the development of arthritis at a young age. Stickler syndrome is caused by genetic changes (mutations or pathogenic variants) in one of six genes: COL2A1, COL11A1, COL11A2, COL9A1, COL9A2, or COL9A3. The syndrome can be inherited in an autosomal dominant or autosomal recessive manner. Stickler syndrome can be diagnosed when a doctor observes many symptoms consistent with the syndrome. Genetic testing can be used to confirm the diagnosis. Treatment for Stickler syndrome may include surgeries, medications to reduce joint pain, and hearing aids. Stickler syndrome can be divided into subtypes based on the pathogenic variant that is causing the syndrome. You can view more information about some of these subtypes by clicking on the links below: Stickler syndrome type 1 Stickler syndrome type 2 Stickler syndrome type 3

MalaCards based summary : Stickler Syndrome, also known as hereditary progressive arthroophthalmopathy, is related to otospondylomegaepiphyseal dysplasia, autosomal dominant and otospondylomegaepiphyseal dysplasia, autosomal recessive. An important gene associated with Stickler Syndrome is COL2A1 (Collagen Type II Alpha 1 Chain), and among its related pathways/superpathways are ECM-receptor interaction and PI3K-Akt signaling pathway. Affiliated tissues include eye, testes and bone, and related phenotypes are malar flattening and hypertelorism

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 : 76 Stickler syndrome (hereditary progressive arthro-ophthalmodystrophy) is a group of very rare genetic... more...

GeneReviews: NBK1302

Related Diseases for Stickler Syndrome

Diseases in the Stickler Syndrome family:

Stickler Syndrome, Type I Stickler Syndrome, Type Ii
Stickler Syndrome, Type Iv Stickler Syndrome, Type V
Stickler Syndrome, Type 3 Autosomal Recessive Stickler Syndrome

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

(show top 50) (show all 69)
# Related Disease Score Top Affiliating Genes
1 otospondylomegaepiphyseal dysplasia, autosomal dominant 33.2 COL11A1 COL11A2 COL2A1
2 otospondylomegaepiphyseal dysplasia, autosomal recessive 32.4 COL11A2 COL2A1
3 autosomal recessive stickler syndrome 32.3 COL11A1 COL9A1 COL9A2 COL9A3 LOXL3
4 marshall syndrome 31.7 COL11A1 COL2A1
5 otospondylomegaepiphyseal dysplasia 31.5 COL11A1 COL11A2 COL2A1
6 retinal detachment 30.5 COL11A1 COL2A1
7 cleft palate, isolated 30.1 COL11A1 COL11A2 COL2A1
8 osteoarthritis 30.0 COL11A2 COL2A1 COL9A1
9 osteochondritis dissecans 29.8 COL9A1 COL9A2 COL9A3
10 vitreoretinal degeneration 29.7 COL11A1 COL2A1 COL9A2
11 myopia 28.9 COL11A1 COL11A2 COL2A1 COL9A1 COL9A2 LOXL3
12 stickler syndrome, type i 12.7
13 stickler syndrome, type ii 12.7
14 stickler syndrome, type 3 12.5
15 stickler syndrome, type i, nonsyndromic ocular 12.5
16 stickler syndrome, type iv 12.4
17 stickler syndrome, type v 12.4
18 wagner vitreoretinopathy 11.0
19 cortical defects, wormian bones, and dentinogenesis imperfecta 11.0
20 pierre robin syndrome 10.2
21 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
22 isolated pierre robin sequence 10.2
23 vitreous syneresis 10.1 COL11A1 COL2A1
24 vitreoretinal dystrophy 10.1 COL11A1 COL2A1
25 scheuermann disease 10.1 COL2A1 COL9A3
26 achondrogenesis, type ii 10.1 COL11A1 COL2A1
27 kniest dysplasia 10.1 COL11A1 COL2A1
28 fibrochondrogenesis 10.0 COL11A1 COL11A2
29 hypochondrogenesis 10.0 COL11A1 COL2A1
30 orthostatic intolerance 10.0
31 spondyloepiphyseal dysplasia congenita 10.0 COL11A1 COL2A1
32 achondrogenesis 10.0 COL2A1 COL9A2
33 epiphyseal dysplasia, multiple, 3 10.0 COL9A2 COL9A3
34 retinal perforation 10.0 COL11A1 COL11A2 COL2A1
35 epiphyseal dysplasia, multiple, 5 10.0 COL9A2 COL9A3
36 macroglossia 10.0 COL11A1 COL2A1 COL9A1
37 campomelic dysplasia 9.9 COL11A2 COL2A1
38 donnai-barrow syndrome 9.9 COL11A1 COL2A1 COL9A1
39 strabismus 9.9 COL11A1 COL2A1 COL9A1
40 bone development disease 9.9 COL2A1 COL9A2
41 sensorineural hearing loss 9.9 COL11A1 COL11A2 COL2A1
42 larsen syndrome 9.9
43 osteoporosis 9.9
44 protrusio acetabuli 9.9
45 craniosynostosis with fibular aplasia 9.9
46 glaucoma 3, primary congenital, a 9.9
47 johanson-blizzard syndrome 9.9
48 coffin-lowry syndrome 9.9
49 arthritis 9.9
50 cataract 9.9

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



Diseases related to Stickler Syndrome

Symptoms & Phenotypes for Stickler Syndrome

Human phenotypes related to Stickler Syndrome:

59 32 (show top 50) (show all 68)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 59 32 hallmark (90%) Very frequent (99-80%) HP:0000272
2 hypertelorism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000316
3 osteoarthritis 59 32 frequent (33%) Frequent (79-30%) HP:0002758
4 genu valgum 59 32 frequent (33%) Frequent (79-30%) HP:0002857
5 abnormality of epiphysis morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0005930
6 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
7 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
8 kyphosis 59 32 frequent (33%) Frequent (79-30%) HP:0002808
9 macroglossia 59 32 frequent (33%) Frequent (79-30%) HP:0000158
10 chronic otitis media 59 32 frequent (33%) Frequent (79-30%) HP:0000389
11 cataract 59 32 hallmark (90%) Very frequent (99-80%) HP:0000518
12 recurrent respiratory infections 59 32 frequent (33%) Frequent (79-30%) HP:0002205
13 skeletal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002652
14 depressed nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0005280
15 open bite 59 32 occasional (7.5%) Occasional (29-5%) HP:0010807
16 pectus carinatum 59 32 frequent (33%) Frequent (79-30%) HP:0000768
17 short nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0003196
18 sensorineural hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000407
19 anteverted nares 59 32 frequent (33%) Frequent (79-30%) HP:0000463
20 short stature 59 32 occasional (7.5%) Occasional (29-5%) HP:0004322
21 blindness 59 32 occasional (7.5%) Occasional (29-5%) HP:0000618
22 gastroesophageal reflux 59 32 frequent (33%) Frequent (79-30%) HP:0002020
23 feeding difficulties in infancy 59 32 occasional (7.5%) Occasional (29-5%) HP:0008872
24 arthralgia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002829
25 arrhythmia 59 32 frequent (33%) Frequent (79-30%) HP:0011675
26 skeletal muscle atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0003202
27 glossoptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000162
28 cleft palate 59 32 frequent (33%) Frequent (79-30%) HP:0000175
29 long philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000343
30 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
31 hemiplegia/hemiparesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0004374
32 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
33 platyspondyly 59 32 frequent (33%) Frequent (79-30%) HP:0000926
34 joint hyperflexibility 59 32 frequent (33%) Frequent (79-30%) HP:0005692
35 epicanthus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000286
36 reduced bone mineral density 59 32 occasional (7.5%) Occasional (29-5%) HP:0004349
37 myopia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000545
38 cachexia 59 32 occasional (7.5%) Occasional (29-5%) HP:0004326
39 telecanthus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000506
40 hip dislocation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002827
41 depressed nasal ridge 59 32 frequent (33%) Frequent (79-30%) HP:0000457
42 hypoplasia of the maxilla 59 32 hallmark (90%) Very frequent (99-80%) HP:0000327
43 glaucoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000501
44 retinal detachment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000541
45 arachnodactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001166
46 disproportionate tall stature 59 32 frequent (33%) Frequent (79-30%) HP:0001519
47 slender build 59 32 occasional (7.5%) Occasional (29-5%) HP:0001533
48 ectopia lentis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001083
49 mitral valve prolapse 59 32 frequent (33%) Frequent (79-30%) HP:0001634
50 protrusio acetabuli 59 32 occasional (7.5%) Occasional (29-5%) HP:0003179

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased gamma-H2AX phosphorylation GR00053-A 9.02 COL11A1 COL11A2 COL9A1 COL9A2 COL9A3

MGI Mouse Phenotypes related to Stickler Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.56 COL11A1 COL11A2 COL2A1 LOXL3
2 hearing/vestibular/ear MP:0005377 9.55 COL11A1 COL11A2 COL2A1 COL9A1 COL9A2
3 limbs/digits/tail MP:0005371 9.26 COL11A1 COL2A1 COL9A1 COL9A2
4 skeleton MP:0005390 9.1 COL11A1 COL11A2 COL2A1 COL9A1 COL9A2 LOXL3

Drugs & Therapeutics for Stickler Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Safety, Efficacy, and Tolerability Study of PF-06480605 in Subjects With Moderate to Severe Ulcerative Colitis. Completed NCT02840721 Phase 2 PF-06480605
2 Studies of Heritable Disorders of Connective Tissue Completed NCT00270686
3 Study of Heritable Connective Tissue Disorders Completed NCT00001641
4 Study of Skeletal Disorders and Short Stature Completed NCT00001754
5 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Stickler Syndrome

Genetic Tests for Stickler Syndrome

Genetic tests related to Stickler Syndrome:

# Genetic test Affiliating Genes
1 Stickler Syndrome 29

Anatomical Context for Stickler Syndrome

MalaCards organs/tissues related to Stickler Syndrome:

41
Eye, Testes, Bone, Skeletal Muscle

Publications for Stickler Syndrome

Articles related to Stickler Syndrome:

(show top 50) (show all 187)
# Title Authors Year
1
Stickler syndrome in children: a radiological review. ( 29661559 )
2018
2
A novel dominant COL11A1 mutation in a child with Stickler syndrome type II is associated with recurrent fractures. ( 28971234 )
2018
3
Bilateral Asymmetric Rhegmatogenous Retinal Detachment in a Patient with Stickler Syndrome. ( 29755825 )
2018
4
Case Report of a Family Affected by Stickler Syndrome in Which Rhegmatogenous Retinal Detachment Occurred in Five Eyes of Three Siblings. ( 29643775 )
2018
5
LOXL3 novel mutation causing a rare form of autosomal recessive Stickler syndrome. ( 30362103 )
2018
6
Autosomal recessive Stickler syndrome resulting from a COL9A3 mutation. ( 30450842 )
2018
7
Clinical diagnosis of Larsen syndrome, Stickler syndrome and Loeys-Dietz syndrome in a 19-year old male: a case report. ( 30170566 )
2018
8
Phenotypic characterization of patients with early-onset high myopia due to mutations in COL2A1 or COL11A1: Why not Stickler syndrome? ( 30181686 )
2018
9
Targeted next‑generation sequencing identifies two novel COL2A1 gene mutations in Stickler syndrome with bilateral retinal detachment. ( 30015854 )
2018
10
Retinal detachment and infantile-onset glaucoma in Stickler syndrome associated with known and novel COL2A1 mutations. ( 30130436 )
2018
11
Contribution of three-dimensional ultrasound and three-dimensional helical computer tomography in the prenatal diagnosis of Stickler Syndrome. ( 30251283 )
2018
12
Novel and recurrent<i>COL11A1</i>and<i>COL2A1</i>mutations in the Marshall-Stickler syndrome spectrum. ( 28983407 )
2017
13
Foveal Hypoplasia in Patients with Stickler Syndrome. ( 28283280 )
2017
14
A mild form of Stickler syndrome type II caused by mosaicism of COL11A1. ( 28315471 )
2017
15
Reduced penetrance in a large Caucasian pedigree with Stickler syndrome. ( 28095098 )
2017
16
A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature. ( 28841907 )
2017
17
Retinal Detachment in a Combined Case of Stickler Syndrome and X-Linked Retinoschisis. ( 28060400 )
2017
18
Osteoporosis in Stickler syndrome. A new family case with bone histology study. ( 28159459 )
2017
19
Type I membranous anomaly in Stickler syndrome. ( 28557656 )
2017
20
Arthritis in Stickler syndrome: Inflammatory or degenerative? ( 26178174 )
2017
21
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
22
Auditory phenotype in Stickler syndrome: results of audiometric analysis in 20 patients. ( 26786361 )
2016
23
Rhegmatogenous retinal detachments associated to Stickler syndrome in a tertiary eye care center in Saudi Arabia. ( 26730175 )
2016
24
Mutation survey and genotype-phenotype analysis of COL2A1 and COL11A1 genes in 16 Chinese patients with Stickler syndrome. ( 27390512 )
2016
25
Cephalometrics in Stickler syndrome: Objectification of the typical facial appearance. ( 27193475 )
2016
26
Novel mutations in the COL2A1 gene in Japanese patients with Stickler syndrome. ( 27408751 )
2016
27
Stickler Syndrome Type 1 with Short Stature and Atypical Ocular Manifestations. ( 28018693 )
2016
28
Long-term surgical outcomes of retinal detachment in patients with Stickler syndrome. ( 27574392 )
2016
29
A novel COL11A1 missense mutation in siblings with non-ocular Stickler syndrome. ( 27081569 )
2016
30
A novel COL11A1 mutation affecting splicing in a patient with Stickler syndrome. ( 27081549 )
2015
31
Stickler syndrome. ( 26458481 )
2015
32
Stickler syndrome. Epidemiology of retinal detachment. ( 25817961 )
2015
33
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
34
Stickler syndrome associated with epilepsy: report of three cases. ( 25809783 )
2015
35
Non-ocular Stickler Syndrome With a Novel Mutation in COL11A2 Diagnosed by Massively Parallel Sequencing in Japanese Hearing Loss Patients. ( 25780254 )
2015
36
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
37
LOXL3, encoding lysyl oxidase-like 3, is mutated in a family with autosomal recessive Stickler syndrome. ( 25663169 )
2015
38
A 360° giant retinal tear in Stickler syndrome. ( 25569319 )
2015
39
Autosomal recessive stickler syndrome due to a loss of function mutation in the COL9A3 gene. ( 24273071 )
2014
40
Stickler syndrome type 1 accompanied by membranous vitreous anomaly in two Japanese sisters. ( 24164106 )
2014
41
Prevention of retinal detachment in Stickler syndrome: the Cambridge prophylactic cryotherapy protocol. ( 24793526 )
2014
42
Osteoarthritis at young age, a diagnostic challenge: a case of stickler syndrome. ( 25598853 )
2014
43
Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing. ( 25240749 )
2014
44
Broadening the phenotype of LRP2 mutations: a new mutation in LRP2 causes a predominantly ocular phenotype suggestive of Stickler syndrome. ( 23992033 )
2013
45
COL2A1 gene disruption by a balanced translocation t(12;15)(q13;q22.2) in familial Stickler syndrome. ( 23918474 )
2013
46
Stickler syndrome associated with congenital glaucoma. ( 23374481 )
2013
47
Alternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing loss. ( 23922384 )
2013
48
Radiographic and tomographic analysis in patients with stickler syndrome type I. ( 23935403 )
2013
49
Deletions within COL11A1 in Type 2 stickler syndrome detected by multiplex ligation-dependent probe amplification (MLPA). ( 23621912 )
2013
50
Bifid uvula and familial Stickler syndrome diagnosed prenatally before the sonographic "equals sign" landmark. ( 23771187 )
2013

Variations for Stickler Syndrome

ClinVar genetic disease variations for Stickler Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 COL2A1 NM_001844.4(COL2A1): c.3357_3358insCT (p.Glu1120Leufs) insertion Pathogenic rs672601354 GRCh37 Chromosome 12, 48370672: 48370673
2 COL2A1 NM_001844.4(COL2A1): c.3357_3358insCT (p.Glu1120Leufs) insertion Pathogenic rs672601354 GRCh38 Chromosome 12, 47976889: 47976890
3 COL2A1 NM_001844.4(COL2A1): c.1191_1199dupTCCTGGGTC (p.Gly402_Pro403insSerProGly) duplication Pathogenic rs672601355 GRCh37 Chromosome 12, 48381416: 48381424
4 COL2A1 NM_001844.4(COL2A1): c.1191_1199dupTCCTGGGTC (p.Gly402_Pro403insSerProGly) duplication Pathogenic rs672601355 GRCh38 Chromosome 12, 47987633: 47987641

Expression for Stickler Syndrome

Search GEO for disease gene expression data for Stickler Syndrome.

Pathways for Stickler Syndrome

Pathways related to Stickler Syndrome according to KEGG:

37
# Name Kegg Source Accession
1 ECM-receptor interaction hsa04512
2 PI3K-Akt signaling pathway hsa04151
3 Focal adhesion hsa04510

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

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.44 COL11A1 COL11A2 COL2A1 COL9A1 COL9A2 COL9A3
2
Show member pathways
13.07 COL11A1 COL11A2 COL2A1 COL9A1 COL9A2 COL9A3
3
Show member pathways
12.74 COL11A1 COL11A2 COL2A1 COL9A1 COL9A2 COL9A3
4
Show member pathways
12.65 COL2A1 COL9A1 COL9A2 COL9A3
5
Show member pathways
12.57 COL11A1 COL11A2 COL2A1 COL9A1 COL9A2 COL9A3
6
Show member pathways
12.22 COL11A1 COL11A2 COL2A1 COL9A1 COL9A2 COL9A3
7
Show member pathways
11.88 COL2A1 COL9A1 COL9A2 COL9A3
8
Show member pathways
11.84 COL11A1 COL11A2 COL2A1 COL9A1 COL9A2 COL9A3
9
Show member pathways
11.82 COL11A1 COL11A2 COL2A1 COL9A1 COL9A2 COL9A3
10 11.54 COL11A2 COL2A1
11 11.41 COL9A1 COL9A2 COL9A3
12 11.18 COL9A1 COL9A2 COL9A3
13 11.04 COL9A1 COL9A3
14 10.54 COL11A1 COL11A2 COL2A1 COL9A1 COL9A2 COL9A3

GO Terms for Stickler Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.91 COL11A1 COL11A2 COL2A1 COL9A1 COL9A2 COL9A3
2 extracellular space GO:0005615 9.87 COL11A1 COL11A2 COL2A1 COL9A1 COL9A2 COL9A3
3 extracellular matrix GO:0031012 9.63 COL11A1 COL11A2 COL2A1 COL9A1 COL9A2 COL9A3
4 collagen-containing extracellular matrix GO:0062023 9.61 COL11A1 COL11A2 COL2A1
5 basement membrane GO:0005604 9.46 COL2A1 COL9A2
6 collagen type IX trimer GO:0005594 9.43 COL9A1 COL9A2 COL9A3
7 endoplasmic reticulum lumen GO:0005788 9.43 COL11A1 COL11A2 COL2A1 COL9A1 COL9A2 COL9A3
8 collagen type XI trimer GO:0005592 9.4 COL11A1 COL11A2
9 collagen trimer GO:0005581 9.1 COL11A1 COL11A2 COL2A1 COL9A1 COL9A2 COL9A3

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.61 COL11A2 COL2A1 COL9A2
2 sensory perception of sound GO:0007605 9.58 COL11A1 COL11A2 COL2A1
3 ossification GO:0001503 9.54 COL11A1 COL2A1
4 inner ear morphogenesis GO:0042472 9.52 COL11A1 COL2A1
5 heart morphogenesis GO:0003007 9.51 COL11A1 COL2A1
6 cartilage development GO:0051216 9.5 COL11A1 COL11A2 COL2A1
7 chondrocyte differentiation GO:0002062 9.49 COL11A2 COL2A1
8 tissue homeostasis GO:0001894 9.48 COL11A2 COL2A1
9 cartilage condensation GO:0001502 9.46 COL11A1 COL2A1
10 roof of mouth development GO:0060021 9.43 COL11A2 COL2A1 LOXL3
11 proteoglycan metabolic process GO:0006029 9.37 COL11A1 COL2A1
12 skeletal system morphogenesis GO:0048705 9.33 COL11A1 COL11A2 COL2A1
13 collagen fibril organization GO:0030199 9.26 COL11A1 COL11A2 COL2A1 LOXL3
14 extracellular matrix organization GO:0030198 9.1 COL11A1 COL11A2 COL2A1 COL9A1 COL9A2 COL9A3

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 9.43 COL11A1 COL11A2 COL2A1 COL9A1 COL9A2 COL9A3
2 protein binding, bridging GO:0030674 9.16 COL11A1 COL11A2
3 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.1 COL11A1 COL11A2 COL2A1 COL9A1 COL9A2 COL9A3

Sources for Stickler Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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