MCID: STC001
MIFTS: 56

Stickler Syndrome

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

Aliases & Classifications for Stickler Syndrome

MalaCards integrated aliases for Stickler Syndrome:

Name: Stickler Syndrome 12 72 23 50 24 25 56 29 14 69
Hereditary Progressive Arthroophthalmopathy 56
Hereditary Arthro-Ophthalmo-Dystrophy 25
Hereditary Arthro-Ophthalmopathy 25
Stickler Syndrome, Type 1 69
Arthro-Ophthalmopathy 24
Arthroophthalmopathy 23
Stickler Dysplasia 25

Characteristics:

Orphanet epidemiological data:

56
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:



Summaries for Stickler Syndrome

NIH Rare Diseases : 50 stickler syndromeis 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 hereditary progressive arthroophthalmopathy, is related to marshall syndrome and wagner syndrome, and has symptoms including short stature, scoliosis and macroglossia. An important gene associated with Stickler Syndrome is COL2A1 (Collagen Type II Alpha 1 Chain), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway. Affiliated tissues include eye, bone and skeletal muscle, and related phenotypes are Increased shRNA abundance (Z-score > 2) and growth/size/body region

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

GeneReviews: NBK1302

Related Diseases for Stickler Syndrome

Diseases in the Stickler Syndrome family:

Stickler Syndrome, Type V Stickler Syndrome, Type Ii
Stickler Syndrome, Type Iv Stickler Syndrome, Type I
Stickler Syndrome, Type 3 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 76)
id Related Disease Score Top Affiliating Genes
1 marshall syndrome 32.2 COL11A1 COL2A1
2 wagner syndrome 29.8 COL11A1 COL2A1 COL9A2
3 stickler syndrome, type i 12.4
4 stickler syndrome, type ii 12.4
5 stickler syndrome, type 3 12.2
6 stickler syndrome, type v 12.1
7 stickler syndrome, type iv 12.1
8 autosomal recessive stickler syndrome 11.8
9 col11a2-related stickler syndrome 11.8
10 col11a1-related stickler syndrome 11.7
11 col2a1-associated stickler syndrome 11.7
12 col2a1-related stickler syndrome 11.7
13 col9a1-related stickler syndrome 11.7
14 col9a2-related stickler syndrome 11.7
15 otospondylomegaepiphyseal dysplasia, autosomal dominant 11.7
16 stickler sydrome, type i, nonsyndromic ocular 11.6
17 otospondylomegaepiphyseal dysplasia, autosomal recessive 10.9
18 otospondylomegaepiphyseal dysplasia 10.8
19 cortical defects, wormian bones, and dentinogenesis imperfecta 10.7
20 progeroid syndrome, neonatal 10.6 COL11A2 COL2A1
21 deafness, autosomal dominant 13 10.6 COL11A2 COL2A1
22 pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis 10.5 COL11A2 COL2A1
23 plantar nerve lesion 10.5 COL11A1 COL2A1
24 moyamoya disease 10.5 COL11A1 COL2A1
25 smed strudwick type 10.5 COL11A1 COL2A1
26 acromesomelic dysplasia 10.4 COL11A1 COL2A1
27 humeroradial synostosis 10.4 COL11A1 COL11A2
28 achondrogenesis, type ii or hypochondrogenesis 10.4 COL11A1 COL2A1
29 wandering spleen 10.4 COL2A1 VCAN
30 vater/vacterl association 10.3 COL2A1 COL9A3
31 alveolar soft-part sarcoma 10.3 COL11A2 COL2A1
32 craniodiaphyseal dysplasia 10.3 COL11A1 COL11A2 COL2A1
33 skin fragility-woolly hair-palmoplantar keratoderma syndrome 10.3 COL11A2 COL2A1
34 retinitis 10.3
35 sulfite oxidase deficiency 10.2 COL11A1 COL2A1
36 myasthenic syndrome, congenital, 2a, slow-channel 10.2 COL11A1 COL11A2 COL2A1
37 retinal detachment 10.2
38 polyglucosan body disease, adult form 10.2 COL2A1 VCAN
39 paget's disease of bone 10.2 COL11A1 COL2A1 COL9A1
40 central cord syndrome 10.1 COL9A2 COL9A3
41 ureter cancer 10.1 COL11A1 COL2A1 VCAN
42 adult-onset still's disease 10.1 COL11A1 COL2A1 VCAN
43 bone structure disease 10.0 COL2A1 COL9A2 COL9A3
44 chromosomal disease 9.9 COL2A1 COL9A2 COL9A3
45 laryngomalacia 9.9 COL11A1 COL11A2 COL2A1 COL9A1
46 benign familial mesial temporal lobe epilepsy 9.9 COL9A1 COL9A2 COL9A3
47 epileptic encephalopathy, early infantile, 7 9.9 COL11A1 COL9A2 COL9A3
48 osteoarthritis 9.9
49 osteonecrosis 9.9 COL9A1 COL9A2 COL9A3
50 epiphyseal dysplasia, multiple, 1 9.9 COL9A1 COL9A2 COL9A3

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:

56 32 (show top 50) (show all 67)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 occasional (7.5%) Occasional (29-5%) HP:0004322
2 scoliosis 56 32 frequent (33%) Frequent (79-30%) HP:0002650
3 macroglossia 56 32 frequent (33%) Frequent (79-30%) HP:0000158
4 recurrent respiratory infections 56 32 frequent (33%) Frequent (79-30%) HP:0002205
5 strabismus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000486
6 myopia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000545
7 retinal detachment 56 32 hallmark (90%) Very frequent (99-80%) HP:0000541
8 micrognathia 56 32 frequent (33%) Frequent (79-30%) HP:0000347
9 depressed nasal bridge 56 32 hallmark (90%) Very frequent (99-80%) HP:0005280
10 hypertelorism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000316
11 proptosis 56 32 frequent (33%) Frequent (79-30%) HP:0000520
12 platyspondyly 56 32 frequent (33%) Frequent (79-30%) HP:0000926
13 kyphosis 56 32 frequent (33%) Frequent (79-30%) HP:0002808
14 cleft palate 56 32 frequent (33%) Frequent (79-30%) HP:0000175
15 glaucoma 56 32 occasional (7.5%) Occasional (29-5%) HP:0000501
16 hip dislocation 56 32 occasional (7.5%) Occasional (29-5%) HP:0002827
17 short nose 56 32 hallmark (90%) Very frequent (99-80%) HP:0003196
18 anteverted nares 56 32 frequent (33%) Frequent (79-30%) HP:0000463
19 pectus carinatum 56 32 frequent (33%) Frequent (79-30%) HP:0000768
20 gastroesophageal reflux 56 32 frequent (33%) Frequent (79-30%) HP:0002020
21 genu valgum 56 32 frequent (33%) Frequent (79-30%) HP:0002857
22 telecanthus 56 32 hallmark (90%) Very frequent (99-80%) HP:0000506
23 blindness 56 32 occasional (7.5%) Occasional (29-5%) HP:0000618
24 cataract 56 32 hallmark (90%) Very frequent (99-80%) HP:0000518
25 long philtrum 56 32 hallmark (90%) Very frequent (99-80%) HP:0000343
26 bone pain 56 32 frequent (33%) Frequent (79-30%) HP:0002653
27 arrhythmia 56 32 frequent (33%) Frequent (79-30%) HP:0011675
28 astigmatism 56 32 frequent (33%) Frequent (79-30%) HP:0000483
29 midface retrusion 56 32 hallmark (90%) Very frequent (99-80%) HP:0011800
30 osteoarthritis 56 32 frequent (33%) Frequent (79-30%) HP:0002758
31 mitral valve prolapse 56 32 frequent (33%) Frequent (79-30%) HP:0001634
32 joint hyperflexibility 56 32 frequent (33%) Frequent (79-30%) HP:0005692
33 arachnodactyly 56 32 frequent (33%) Frequent (79-30%) HP:0001166
34 slender build 56 32 occasional (7.5%) Occasional (29-5%) HP:0001533
35 epicanthus 56 32 hallmark (90%) Very frequent (99-80%) HP:0000286
36 muscular hypotonia 56 32 frequent (33%) Frequent (79-30%) HP:0001252
37 feeding difficulties in infancy 56 32 occasional (7.5%) Occasional (29-5%) HP:0008872
38 sensorineural hearing impairment 56 32 frequent (33%) Frequent (79-30%) HP:0000407
39 ectopia lentis 56 32 occasional (7.5%) Occasional (29-5%) HP:0001083
40 malar flattening 56 32 hallmark (90%) Very frequent (99-80%) HP:0000272
41 skeletal dysplasia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002652
42 arthralgia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002829
43 glossoptosis 56 32 frequent (33%) Frequent (79-30%) HP:0000162
44 uveitis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000554
45 chronic otitis media 56 32 frequent (33%) Frequent (79-30%) HP:0000389
46 spinal canal stenosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0003416
47 open bite 56 32 occasional (7.5%) Occasional (29-5%) HP:0010807
48 protrusio acetabuli 56 32 occasional (7.5%) Occasional (29-5%) HP:0003179
49 cachexia 56 32 occasional (7.5%) Occasional (29-5%) HP:0004326
50 depressed nasal ridge 56 32 frequent (33%) Frequent (79-30%) HP:0000457

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.75 COL5A2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.75 COL11A1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-110 9.75 COL5A2 COL11A1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.75 COL11A1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-124 9.75 LOXL3
6 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.75 COL5A2 LOXL3 COL11A1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-13 9.75 LOXL3
8 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.75 LOXL3
9 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.75 LOXL3
10 Increased shRNA abundance (Z-score > 2) GR00366-A-170 9.75 COL11A1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-185 9.75 COL11A1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.75 COL5A2 COL11A1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.75 LOXL3
14 Increased shRNA abundance (Z-score > 2) GR00366-A-35 9.75 LOXL3
15 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.75 COL11A1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.75 COL5A2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.75 COL11A1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-69 9.75 COL11A1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.75 COL5A2 LOXL3 COL11A1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.75 COL11A1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.75 COL11A1

MGI Mouse Phenotypes related to Stickler Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.91 VCAN COL11A1 COL11A2 COL2A1 COL5A2 LOXL3
2 craniofacial MP:0005382 9.8 COL11A1 COL11A2 COL2A1 LOXL3 LRP2
3 hearing/vestibular/ear MP:0005377 9.8 COL9A2 LRP2 COL11A1 COL11A2 COL2A1 COL9A1
4 limbs/digits/tail MP:0005371 9.73 COL11A1 COL2A1 COL9A1 COL9A2 LRP2 VCAN
5 skeleton MP:0005390 9.61 COL11A1 COL11A2 COL2A1 COL5A2 COL9A1 COL9A2
6 respiratory system MP:0005388 9.55 COL11A1 COL2A1 COL5A2 LOXL3 LRP2
7 vision/eye MP:0005391 9.02 COL2A1 COL5A2 COL9A1 LOXL3 LRP2

Drugs & Therapeutics for Stickler Syndrome

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Safety, Efficacy, and Tolerability Study of PF-06480605 in Subjects With Moderate to Severe Ulcerative Colitis. Recruiting 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:

id Genetic test Affiliating Genes
1 Stickler Syndrome 29 24 COL9A2

Anatomical Context for Stickler Syndrome

MalaCards organs/tissues related to Stickler Syndrome:

39
Eye, Bone, Skeletal Muscle

Publications for Stickler Syndrome

Articles related to Stickler Syndrome:

(show top 50) (show all 176)
id Title Authors Year
1
Osteoporosis in Stickler syndrome. A new family case with bone histology study. ( 28159459 )
2017
2
A mild form of Stickler syndrome type II caused by mosaicism of COL11A1. ( 28315471 )
2017
3
Reduced penetrance in a large Caucasian pedigree with Stickler syndrome. ( 28095098 )
2017
4
Foveal Hypoplasia in Patients with Stickler Syndrome. ( 28283280 )
2017
5
Type I membranous anomaly in Stickler syndrome. ( 28557656 )
2017
6
Retinal Detachment in a Combined Case of Stickler Syndrome and X-Linked Retinoschisis. ( 28060400 )
2017
7
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
8
Mutation survey and genotype-phenotype analysis of COL2A1 and COL11A1 genes in 16 Chinese patients with Stickler syndrome. ( 27390512 )
2016
9
Stickler Syndrome Type 1 with Short Stature and Atypical Ocular Manifestations. ( 28018693 )
2016
10
Novel mutations in the COL2A1 gene in Japanese patients with Stickler syndrome. ( 27408751 )
2016
11
Long-term surgical outcomes of retinal detachment in patients with Stickler syndrome. ( 27574392 )
2016
12
Rhegmatogenous retinal detachments associated to Stickler syndrome in a tertiary eye care center in Saudi Arabia. ( 26730175 )
2016
13
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
14
Cephalometrics in Stickler syndrome: Objectification of the typical facial appearance. ( 27193475 )
2016
15
Auditory phenotype in Stickler syndrome: results of audiometric analysis in 20 patients. ( 26786361 )
2016
16
A novel COL11A1 missense mutation in siblings with non-ocular Stickler syndrome. ( 27081569 )
2016
17
A 360A^ giant retinal tear in Stickler syndrome. ( 25569319 )
2015
18
Stickler syndrome associated with epilepsy: report of three cases. ( 25809783 )
2015
19
LOXL3, encoding lysyl oxidase-like 3, is mutated in a family with autosomal recessive Stickler syndrome. ( 25663169 )
2015
20
Stickler syndrome. ( 26458481 )
2015
21
Stickler syndrome. Epidemiology of retinal detachment. ( 25817961 )
2015
22
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
23
A novel COL11A1 mutation affecting splicing in a patient with Stickler syndrome. ( 27081549 )
2015
24
Non-ocular Stickler Syndrome With a Novel Mutation in COL11A2 Diagnosed by Massively Parallel Sequencing in Japanese Hearing Loss Patients. ( 25780254 )
2015
25
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
26
Arthritis in Stickler syndrome: Inflammatory or degenerative? ( 26178174 )
2015
27
Stickler syndrome type 1 accompanied by membranous vitreous anomaly in two Japanese sisters. ( 24164106 )
2014
28
Prevention of retinal detachment in Stickler syndrome: the Cambridge prophylactic cryotherapy protocol. ( 24793526 )
2014
29
Autosomal recessive stickler syndrome due to a loss of function mutation in the COL9A3 gene. ( 24273071 )
2014
30
Osteoarthritis at young age, a diagnostic challenge: a case of stickler syndrome. ( 25598853 )
2014
31
Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing. ( 25240749 )
2014
32
Radiographic and tomographic analysis in patients with stickler syndrome type I. ( 23935403 )
2013
33
Stickler syndrome associated with congenital glaucoma. ( 23374481 )
2013
34
Bifid uvula and familial Stickler syndrome diagnosed prenatally before the sonographic "equals sign" landmark. ( 23771187 )
2013
35
Deletions within COL11A1 in Type 2 stickler syndrome detected by multiplex ligation-dependent probe amplification (MLPA). ( 23621912 )
2013
36
Alternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing loss. ( 23922384 )
2013
37
COL2A1 gene disruption by a balanced translocation t(12;15)(q13;q22.2) in familial Stickler syndrome. ( 23918474 )
2013
38
Broadening the phenotype of LRP2 mutations: a new mutation in LRP2 causes a predominantly ocular phenotype suggestive of Stickler syndrome. ( 23992033 )
2013
39
Hearing impairment in Stickler syndrome: a systematic review. ( 23110709 )
2012
40
Importance of early diagnosis of Stickler syndrome in newborns. ( 22424767 )
2012
41
Audiometric characteristics of two Dutch families with non-ocular Stickler syndrome (COL11A2). ( 22796475 )
2012
42
Mosaicism in Stickler syndrome. ( 22522174 )
2012
43
Bilateral vitreous hemorrhage in a newborn with Stickler syndrome associated with a novel COL2A1 mutation. ( 21777803 )
2011
44
Identification of the COL2A1 mutation in patients with type I Stickler syndrome using RNA from freshly isolated peripheral white blood cells. ( 21186996 )
2011
45
Stickler syndrome: an underdiagnosed disease. Report of a family. ( 22003765 )
2011
46
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
47
Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist. ( 21921955 )
2011
48
A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome. ( 21671392 )
2011
49
Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene. ( 21421862 )
2011
50
Early-onset progressive osteoarthritis with hereditary progressive ophtalmopathy or Stickler syndrome. ( 20462780 )
2011

Variations for Stickler Syndrome

ClinVar genetic disease variations for Stickler Syndrome:

6
id 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.1191_1199dupTCCTGGGTC (p.Gly402_Pro403insSerProGly) duplication Pathogenic rs672601355 GRCh37 Chromosome 12, 48381416: 48381424

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 GeneCards Suite gene sharing:

(show all 12)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.53 COL11A1 COL11A2 COL2A1 COL5A2 COL9A1 COL9A2
2
Show member pathways
13.11 COL11A1 COL11A2 COL2A1 COL5A2 COL9A1 COL9A2
3
Show member pathways
12.65 COL11A1 COL11A2 COL2A1 COL5A2 COL9A1 COL9A2
4
Show member pathways
12.57 COL11A1 COL11A2 COL2A1 COL5A2 COL9A1 COL9A2
5 12.33 COL2A1 COL9A1 COL9A2 COL9A3
6
Show member pathways
12.28 COL11A1 COL11A2 COL2A1 COL5A2 COL9A1 COL9A2
7
Show member pathways
11.93 COL11A1 COL11A2 COL2A1 COL5A2 COL9A1 COL9A2
8
Show member pathways
11.88 COL2A1 COL9A1 COL9A2 COL9A3
9 11.38 COL9A1 COL9A2 COL9A3 VCAN
10 11.3 COL2A1 VCAN
11 11.18 COL9A1 COL9A2 COL9A3
12 11 COL9A1 COL9A3

GO Terms for Stickler Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.97 COL11A1 COL11A2 COL2A1 COL5A2 COL9A1 COL9A2
2 proteinaceous extracellular matrix GO:0005578 9.76 COL11A1 COL11A2 COL2A1 COL5A2 COL9A1 COL9A2
3 extracellular matrix GO:0031012 9.71 COL11A1 COL2A1 COL5A2 VCAN
4 endoplasmic reticulum lumen GO:0005788 9.56 COL11A1 COL11A2 COL2A1 COL5A2 COL9A1 COL9A2
5 collagen type IX trimer GO:0005594 9.43 COL9A1 COL9A2 COL9A3
6 collagen type XI trimer GO:0005592 9.37 COL11A1 COL11A2
7 collagen trimer GO:0005581 9.17 COL11A1 COL11A2 COL2A1 COL5A2 COL9A1 COL9A2

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

(show all 15)
id Name GO ID Score Top Affiliating Genes
1 ossification GO:0001503 9.65 COL11A1 COL2A1 COL5A2
2 palate development GO:0060021 9.63 COL11A2 COL2A1 LOXL3
3 cartilage development GO:0051216 9.58 COL11A1 COL11A2 COL2A1
4 collagen catabolic process GO:0030574 9.56 COL11A1 COL11A2 COL2A1 COL5A2
5 inner ear morphogenesis GO:0042472 9.55 COL11A1 COL2A1
6 skeletal system development GO:0001501 9.55 COL11A2 COL2A1 COL5A2 COL9A2 VCAN
7 heart morphogenesis GO:0003007 9.54 COL11A1 COL2A1
8 skeletal system morphogenesis GO:0048705 9.54 COL11A1 COL11A2 COL2A1
9 chondrocyte differentiation GO:0002062 9.52 COL11A2 COL2A1
10 cartilage condensation GO:0001502 9.51 COL11A1 COL2A1
11 sensory perception of sound GO:0007605 9.5 COL11A1 COL11A2 COL2A1
12 tissue homeostasis GO:0001894 9.49 COL11A2 COL2A1
13 proteoglycan metabolic process GO:0006029 9.43 COL11A1 COL2A1
14 collagen fibril organization GO:0030199 9.26 COL11A1 COL11A2 COL2A1 COL5A2
15 extracellular matrix organization GO:0030198 9.17 COL11A1 COL2A1 COL5A2 COL9A1 COL9A2 COL9A3

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

id Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 9.7 COL11A1 COL11A2 COL2A1 COL5A2 COL9A1 LOXL3
2 extracellular matrix structural constituent GO:0005201 9.35 COL11A1 COL11A2 COL2A1 COL5A2 VCAN
3 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.02 COL11A2 COL2A1 COL9A1 COL9A2 COL9A3

Sources for Stickler Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....