MCID: STC001
MIFTS: 56

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 74 24 52 25 58 36 29 6 15 39 71
Hereditary Progressive Arthroophthalmopathy 58
Hereditary Arthro-Ophthalmo-Dystrophy 25
Hereditary Arthro-Ophthalmopathy 25
Stickler Syndrome, Type 1 71
Arthroophthalmopathy 24
Stickler Dysplasia 25

Characteristics:

Orphanet epidemiological data:

58
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:

Orphanet: 58  
Rare eye diseases
Rare otorhinolaryngological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Stickler Syndrome

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. A characteristic feature of Stickler syndrome is a somewhat flattened facial appearance. This appearance results from underdeveloped bones in the middle of the face, including the cheekbones and the bridge of the nose. A particular group of physical features called Pierre Robin sequence is also common in people with Stickler syndrome. Pierre Robin sequence includes an opening in the roof of the mouth (a cleft palate), a tongue that is placed further back than normal (glossoptosis), and a small lower jaw (micrognathia). This combination of features can lead to feeding problems and difficulty breathing. Many people with Stickler syndrome have severe nearsightedness (high myopia). In some cases, the clear gel that fills the eyeball (the vitreous) has an abnormal appearance, which is noticeable during an eye examination. Other eye problems are also common, including increased pressure within the eye (glaucoma), clouding of the lens of the eyes (cataracts), and tearing of the lining of the eye (retinal detachment). These eye abnormalities cause impaired vision or blindness in some cases. In people with Stickler syndrome, hearing loss varies in degree and may become more severe over time. The hearing loss may be sensorineural, meaning that it results from changes in the inner ear, or conductive, meaning that it is caused by abnormalities of the middle ear. Most people with Stickler syndrome have skeletal abnormalities that affect the joints. The joints of affected children and young adults may be loose and very flexible (hypermobile), though joints become less flexible with age. Arthritis often appears early in life and may cause joint pain or stiffness. Problems with the bones of the spine (vertebrae) can also occur, including abnormal curvature of the spine (scoliosis or kyphosis) and flattened vertebrae (platyspondyly). These spinal abnormalities may cause back pain. Researchers have described several types of Stickler syndrome, which are distinguished by their genetic causes and their patterns of signs and symptoms. In particular, the eye abnormalities and severity of hearing loss differ among the types. Type I has the highest risk of retinal detachment. Type II also includes eye abnormalities, but type III does not (and is often called non-ocular Stickler syndrome). Types II and III are more likely than type I to have significant hearing loss. Types IV, V, and VI are very rare and have each been diagnosed in only a few individuals. A condition similar to Stickler syndrome, called Marshall syndrome, is characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and early-onset arthritis. Marshall syndrome can also include short stature. Some researchers have classified Marshall syndrome as a variant of Stickler syndrome, while others consider it to be a separate disorder.

MalaCards based summary : Stickler Syndrome, also known as hereditary progressive arthroophthalmopathy, is related to otospondylomegaepiphyseal dysplasia, autosomal dominant and autosomal recessive stickler syndrome. 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, bone and testes, and related phenotypes are cataract and skeletal dysplasia

Disease Ontology : 12 A syndrome that is characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems.

NIH Rare Diseases : 52 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 .

KEGG : 36 Stickler syndrome (STL) is a hereditary connective tissue disorder of fibrillar collagen. It is characterized by ocular signs (myopia, vitreoretinal degeneration, retinal detachment and cataracts), arthropathy, deafness, cleft palate, micrognathia, and a characteristic flat face. Mutations in the COL2A1, COL11A1, COL11A2, COL9A1, and COL9A2 genes can cause Stickler syndrome.

Wikipedia : 74 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
Autosomal Recessive Stickler Syndrome

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

(show top 50) (show all 187)
# Related Disease Score Top Affiliating Genes
1 otospondylomegaepiphyseal dysplasia, autosomal dominant 33.8 COL9A1 COL5A2 COL2A1 COL11A2 COL11A1
2 autosomal recessive stickler syndrome 33.8 LOXL3 COL9A3 COL9A2 COL9A1 COL11A1
3 vitreoretinal degeneration 33.2 COL9A2 COL2A1 COL11A1
4 otospondylomegaepiphyseal dysplasia, autosomal recessive 32.5 COL9A3 COL9A2 COL9A1 COL5A2 COL2A1 COL11A2
5 marshall syndrome 31.7 RNF217-AS1 PLEKHA7 PCMTD1 COL9A3 COL9A2 COL9A1
6 retinal detachment 31.6 COL9A2 COL9A1 COL2A1 COL11A1
7 cleft palate, isolated 31.0 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1 BMP4
8 sensorineural hearing loss 30.8 LRP2 COL9A2 COL2A1 COL11A2 COL11A1
9 skeletal dysplasias 30.8 MATN3 COL2A1
10 vitreous detachment 30.8 OPTC COL2A1
11 spondyloepiphyseal dysplasia with congenital joint dislocations 30.7 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
12 osteoarthritis 30.7 MATN3 COL9A1 COL2A1 COL11A2
13 back pain 30.5 COL9A3 COL9A2
14 osteochondrosis 30.5 COL9A3 COL9A2 COL9A1 COL2A1
15 hypermobile ehlers-danlos syndrome 30.4 FBN1 COL1A1
16 orthostatic intolerance 30.4 FBN1 COL5A2 COL1A1
17 cataract 30.4 FBN1 CRYAA COL9A1 COL2A1 COL11A1 BMP4
18 achondrogenesis, type ii 30.4 MATN3 COL2A1 COL11A2
19 legg-calve-perthes disease 30.3 MATN3 COL9A1 COL2A1
20 intervertebral disc disease 30.3 COL9A3 COL9A2 COL11A2 COL11A1
21 osteochondritis dissecans 30.2 MATN3 COL9A3 COL9A2 COL9A1 COL2A1
22 synovial chondromatosis 30.2 COL2A1 COL1A1 BMP4
23 marfan syndrome 30.2 FBN1 COL5A2 COL2A1 COL1A1
24 vitreoretinal dystrophy 30.2 OPTC CRYAA COL11A1
25 vitreous syneresis 30.1 OPTC COL9A3 COL9A2 COL2A1 COL11A2 COL11A1
26 fibrochondrogenesis 30.1 COL9A3 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
27 intraocular pressure quantitative trait locus 30.0 FBN1 CRYAA BMP4
28 achondrogenesis 30.0 MATN3 COL9A3 COL9A2 COL9A1 COL2A1
29 ehlers-danlos syndrome 30.0 PLOD3 FBN1 COL5A2 COL1A1
30 kniest dysplasia 29.9 COL9A3 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
31 multiple epiphyseal dysplasia 29.8 MATN3 COL9A3 COL9A2 COL9A1 COL2A1 COL11A2
32 myopia 29.5 OPTC LRP2 LOXL3 FBN1 CRYAA COL9A2
33 odontochondrodysplasia 28.6 MATN3 FBN1 COL9A3 COL9A2 COL9A1 COL5A2
34 stickler syndrome, type i 12.9
35 stickler syndrome, type ii 12.8
36 stickler syndrome, type i, nonsyndromic ocular 12.7
37 stickler syndrome, type iv 12.7
38 stickler syndrome, type v 12.7
39 isolated pierre robin sequence 11.6
40 cortical defects, wormian bones, and dentinogenesis imperfecta 11.2
41 joint laxity, short stature, and myopia 10.8
42 pierre robin syndrome 10.5
43 fibrochondrogenesis 1 10.5 COL11A2 COL11A1
44 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.5
45 yemenite deaf-blind hypopigmentation syndrome 10.5
46 kohler's disease 10.5 COL2A1 COL11A2 COL11A1
47 scheuermann disease 10.5 COL9A3 COL2A1
48 macroglossia 10.4 COL9A1 COL2A1 COL11A1
49 schneckenbecken dysplasia 10.4 COL2A1 COL11A2 COL11A1
50 cleft soft palate 10.4 COL2A1 COL11A2 COL11A1

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:

58 31 (show top 50) (show all 68)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cataract 58 31 hallmark (90%) Very frequent (99-80%) HP:0000518
2 skeletal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002652
3 depressed nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005280
4 short nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0003196
5 arthralgia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002829
6 epicanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000286
7 myopia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000545
8 hypoplasia of the maxilla 58 31 hallmark (90%) Very frequent (99-80%) HP:0000327
9 retinal detachment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000541
10 long philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000343
11 abnormality of epiphysis morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0005930
12 malar flattening 58 31 hallmark (90%) Very frequent (99-80%) HP:0000272
13 telecanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000506
14 midface retrusion 58 31 hallmark (90%) Very frequent (99-80%) HP:0011800
15 abnormal vitreous humor morphology 31 hallmark (90%) HP:0004327
16 macroglossia 58 31 frequent (33%) Frequent (79-30%) HP:0000158
17 chronic otitis media 58 31 frequent (33%) Frequent (79-30%) HP:0000389
18 muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001252
19 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
20 kyphosis 58 31 frequent (33%) Frequent (79-30%) HP:0002808
21 recurrent respiratory infections 58 31 frequent (33%) Frequent (79-30%) HP:0002205
22 pectus carinatum 58 31 frequent (33%) Frequent (79-30%) HP:0000768
23 sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000407
24 anteverted nares 58 31 frequent (33%) Frequent (79-30%) HP:0000463
25 gastroesophageal reflux 58 31 frequent (33%) Frequent (79-30%) HP:0002020
26 arrhythmia 58 31 frequent (33%) Frequent (79-30%) HP:0011675
27 genu valgum 58 31 frequent (33%) Frequent (79-30%) HP:0002857
28 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
29 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
30 mitral valve prolapse 58 31 frequent (33%) Frequent (79-30%) HP:0001634
31 arachnodactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001166
32 disproportionate tall stature 58 31 frequent (33%) Frequent (79-30%) HP:0001519
33 depressed nasal ridge 58 31 frequent (33%) Frequent (79-30%) HP:0000457
34 cleft upper lip 58 31 frequent (33%) Frequent (79-30%) HP:0000204
35 platyspondyly 58 31 frequent (33%) Frequent (79-30%) HP:0000926
36 joint hyperflexibility 58 31 frequent (33%) Frequent (79-30%) HP:0005692
37 proptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000520
38 glossoptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000162
39 osteoarthritis 58 31 frequent (33%) Frequent (79-30%) HP:0002758
40 bone pain 58 31 frequent (33%) Frequent (79-30%) HP:0002653
41 astigmatism 58 31 frequent (33%) Frequent (79-30%) HP:0000483
42 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
43 open bite 58 31 occasional (7.5%) Occasional (29-5%) HP:0010807
44 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
45 blindness 58 31 occasional (7.5%) Occasional (29-5%) HP:0000618
46 feeding difficulties in infancy 58 31 occasional (7.5%) Occasional (29-5%) HP:0008872
47 hemiplegia/hemiparesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004374
48 skeletal muscle atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003202
49 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
50 reduced bone mineral density 58 31 occasional (7.5%) Occasional (29-5%) HP:0004349

MGI Mouse Phenotypes related to Stickler Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 10.06 BMP4 COL11A1 COL11A2 COL1A1 COL2A1 FBN1
2 hearing/vestibular/ear MP:0005377 10.02 BMP4 COL11A1 COL11A2 COL1A1 COL2A1 COL9A1
3 digestive/alimentary MP:0005381 9.91 BMP4 COL11A1 COL1A1 COL2A1 LOXL3 LRP2
4 limbs/digits/tail MP:0005371 9.91 BMP4 COL11A1 COL1A1 COL2A1 COL9A1 COL9A2
5 respiratory system MP:0005388 9.81 BMP4 COL11A1 COL1A1 COL2A1 COL5A2 FBN1
6 skeleton MP:0005390 9.77 BMP4 COL11A1 COL11A2 COL1A1 COL2A1 COL5A2
7 vision/eye MP:0005391 9.28 BMP4 COL1A1 COL2A1 COL5A2 COL9A1 LOXL3

Drugs & Therapeutics for Stickler Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clinical and Molecular Manifestations of Heritable Connective Tissue Disorders Completed NCT00001641
2 Clinical and Molecular Manifestations of Human Skeletal Dysplasias and Short Stature Completed NCT00001754
3 Clinical and Molecular Manifestations of Heritable Disorders of Connective Tissue Completed NCT00270686
4 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:

40
Eye, Bone, Testes, Tongue, Skeletal Muscle, Retina

Publications for Stickler Syndrome

Articles related to Stickler Syndrome:

(show top 50) (show all 379)
# Title Authors PMID Year
1
A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome. 24 6 61
21671392 2011
2
Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene. 61 24 6
21421862 2011
3
A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene. 24 6 61
16909383 2006
4
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. 6 24 61
11007540 2000
5
Stickler syndrome: further mutations in COL11A1 and evidence for additional locus heterogeneity. 24 6 61
10573014 1999
6
HEREDITARY PROGRESSIVE ARTHRO-OPHTHALMOPATHY. 6 24
14299791 1965
7
Autosomal dominant rhegmatogenous retinal detachment associated with an Arg453Ter mutation in the COL2A1 gene. 61 6
12939326 2003
8
Rapid determination of COL2A1 mutations in individuals with Stickler syndrome: analysis of potential premature termination codons. 6 61
10982970 2000
9
Stickler Syndrome 61 6
20301479 2000
10
Molecular diagnosis of Stickler syndrome: a COL2A1 stop codon mutation screening strategy that is not compromised by mutant mRNA instability. 61 6
10706362 2000
11
A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen. 6 61
8872475 1996
12
A-2-->G transition at the 3' acceptor splice site of IVS17 characterizes the COL2A1 gene mutation in the original Stickler syndrome kindred. 61 6
8737653 1996
13
Stickler syndrome. A mutation in the nonhelical 3' end of type II procollagen gene. 6 61
7487609 1995
14
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. 61 6
8406454 1993
15
A second mutation in the type II procollagen gene (COL2AI) causing stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon. 61 6
8434604 1993
16
Procollagen II gene mutation in Stickler syndrome. 6 61
1444917 1992
17
Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy). 6 61
1677770 1991
18
Type II Collagen Disorders Overview 6
31021589 2019
19
A novel dominant COL11A1 mutation in a child with Stickler syndrome type II is associated with recurrent fractures. 52 61
28971234 2018
20
Osteoporosis in Stickler syndrome. A new family case with bone histology study. 52 61
28159459 2017
21
Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing. 61 24
25240749 2014
22
Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene. 24 61
24273071 2014
23
Deletions within COL11A1 in Type 2 stickler syndrome detected by multiplex ligation-dependent probe amplification (MLPA). 61 24
23621912 2013
24
Evaluation of the adolescent or adult with some features of Marfan syndrome. 6
22237449 2012
25
Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1. 61 24
20513134 2010
26
A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies. 61 24
17236192 2007
27
Robin sequence: a retrospective review of 115 patients. 61 24
16443284 2006
28
A type II collagen mutation also results in oto-spondylo-megaepiphyseal dysplasia. 6
16189708 2005
29
Stickler syndrome: clinical characteristics and diagnostic criteria. 61 24
16152640 2005
30
A stop codon mutation in COL11A2 induces exon skipping and leads to non-ocular Stickler syndrome. 24 61
15372529 2004
31
Pierre Robin sequence in Denmark: a retrospective population-based epidemiological study. 24 61
14697070 2004
32
Snowflake vitreoretinal degeneration: follow-up of the original family. 61 24
14644728 2003
33
Clinical variability of Stickler syndrome: role of exon 2 of the collagen COL2A1 gene. 61 24
12686304 2003
34
Posterior chorioretinal atrophy and vitreous phenotype in a family with Stickler syndrome from a mutation in the COL2A1 gene. 61 24
12511349 2003
35
Prevalence of mitral valve prolapse in Stickler syndrome. 24 61
12503098 2003
36
The Stickler syndrome: genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1. 24 61
12544472 2003
37
Occurrence of deletion of a COL2A1 allele as the mutation in Stickler syndrome shows that a collagen type II dosage effect underlies this syndrome. 61 24
12204008 2002
38
Stickler syndrome and vitreoretinal degeneration: correlation between locus mutation and vitreous phenotype. Apropos of a case. 61 24
11450497 2001
39
Thoracolumbar spinal abnormalities in Stickler syndrome. 61 24
11224888 2001
40
Diagnosis and treatment of the Pierre Robin sequence: results of a retrospective clinical study and review of the literature. 24 61
11195018 2001
41
Clinical variability of Stickler syndrome with a COL2A1 haploinsufficiency mutation: implications for genetic counselling. 24 61
10819645 2000
42
Hearing loss in the nonocular Stickler syndrome caused by a COL11A2 mutation. 24 61
10718438 2000
43
Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes. 61 24
10486316 1999
44
Clinical and Molecular genetics of Stickler syndrome. 61 24
10353778 1999
45
Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2(XI) chain of type XI collagen. 61 24
9506662 1998
46
Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus. 61 24
7859284 1995
47
Structure of cDNA clones coding for human type II procollagen. The alpha 1(II) chain is more similar to the alpha 1(I) chain than two other alpha chains of fibrillar collagens. 6
2803268 1989
48
Prevalence of mitral-valve prolapse in the Stickler syndrome. 24 61
3728560 1986
49
Binder syndrome in a mother and her son. 24
9327267 1997
50
Next-generation sequencing-aided precise diagnosis of Stickler syndrome type I. 61
31736238 2020

Variations for Stickler Syndrome

ClinVar genetic disease variations for Stickler Syndrome:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COL2A1 NM_001844.5(COL2A1):c.3357_3358insCT (p.Glu1120fs)insertion Pathogenic 162040 rs672601354 12:48370672-48370673 12:47976889-47976890
2 COL2A1 NM_001844.5(COL2A1):c.1191_1199dup (p.Ser400_Gly402dup)duplication Pathogenic 162041 rs672601355 12:48381415-48381416 12:47987632-47987633
3 COL9A2 NM_001852.4(COL9A2):c.1774G>A (p.Gly592Ser)SNV Likely pathogenic 635165 rs535212284 1:40768311-40768311 1:40302639-40302639
4 COL2A1 NM_001844.5(COL2A1):c.1681-2_1681-1deldeletion Likely pathogenic 667402 12:48379371-48379372 12:47985588-47985589

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:

36
# 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 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.65 FBN1 COL9A3 COL9A2 COL9A1 COL5A2 COL2A1
2
Show member pathways
13.23 FBN1 COL9A3 COL9A2 COL9A1 COL5A2 COL2A1
3
Show member pathways
12.85 FBN1 COL9A3 COL9A2 COL9A1 COL5A2 COL2A1
4
Show member pathways
12.76 COL9A3 COL9A2 COL9A1 COL2A1 COL1A1
5
Show member pathways
12.74 COL9A3 COL9A2 COL9A1 COL5A2 COL2A1 COL1A1
6
Show member pathways
12.38 PLOD3 LOXL3 COL9A3 COL9A2 COL9A1 COL5A2
7
Show member pathways
12.12 PLOD3 OPTC MATN3 LOXL3 FBN1 COL9A3
8
Show member pathways
11.99 FBN1 COL9A3 COL9A2 COL9A1 COL2A1 COL1A1
9 11.69 COL2A1 COL11A2 BMP4
10
Show member pathways
11.53 LOXL3 FBN1 BMP4
11 11.46 MATN3 COL9A3 COL9A2 COL9A1
12 11.2 COL9A3 COL9A2 COL9A1
13 10.76 FBN1 COL9A3 COL9A2 COL9A1 COL5A2 COL2A1

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 10.21 PLOD3 OPTC MATN3 LOXL3 FBN1 COL9A3
2 extracellular space GO:0005615 10.13 PLOD3 MATN3 LOXL3 FBN1 COL9A3 COL9A2
3 collagen-containing extracellular matrix GO:0062023 9.9 PLOD3 MATN3 FBN1 COL9A3 COL9A2 COL9A1
4 collagen trimer GO:0005581 9.86 COL9A3 COL9A2 COL9A1 COL5A2 COL2A1 COL1A1
5 extracellular matrix GO:0031012 9.7 OPTC MATN3 FBN1 COL9A3 COL9A2 COL9A1
6 collagen type IX trimer GO:0005594 9.58 COL9A3 COL9A2 COL9A1
7 collagen type XI trimer GO:0005592 9.43 COL11A2 COL11A1
8 endoplasmic reticulum lumen GO:0005788 9.4 PLOD3 MATN3 FBN1 COL9A3 COL9A2 COL9A1

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.81 CRYAA COL2A1 COL1A1 COL11A1
2 sensory perception of sound GO:0007605 9.8 LRP2 COL2A1 COL1A1 COL11A2 COL11A1
3 skeletal system development GO:0001501 9.76 MATN3 FBN1 COL9A2 COL5A2 COL2A1 COL1A1
4 osteoblast differentiation GO:0001649 9.73 COL1A1 COL11A2 BMP4
5 ossification GO:0001503 9.72 COL5A2 COL2A1 COL1A1 COL11A1 BMP4
6 roof of mouth development GO:0060021 9.7 LOXL3 COL2A1 COL11A2
7 skeletal system morphogenesis GO:0048705 9.67 COL2A1 COL1A1 COL11A2 COL11A1
8 cartilage development GO:0051216 9.65 MATN3 COL2A1 COL11A2 COL11A1 BMP4
9 extracellular matrix organization GO:0030198 9.65 MATN3 FBN1 COL9A3 COL9A2 COL9A1 COL5A2
10 chondrocyte differentiation GO:0002062 9.63 COL2A1 COL11A2 BMP4
11 endochondral ossification GO:0001958 9.61 COL2A1 COL1A1 BMP4
12 tissue homeostasis GO:0001894 9.58 COL2A1 COL11A2
13 lung morphogenesis GO:0060425 9.58 PLOD3 BMP4
14 cartilage condensation GO:0001502 9.57 COL2A1 COL11A1
15 secondary heart field specification GO:0003139 9.55 LRP2 BMP4
16 embryonic skeletal joint morphogenesis GO:0060272 9.54 COL2A1 BMP4
17 proteoglycan metabolic process GO:0006029 9.49 COL2A1 COL11A1
18 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.48 COL2A1 COL1A1
19 collagen fibril organization GO:0030199 9.23 PLOD3 OPTC LOXL3 COL5A2 COL2A1 COL1A1

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.56 COL9A3 COL9A2 COL9A1 COL5A2 COL2A1 COL1A1
2 extracellular matrix structural constituent GO:0005201 9.36 OPTC MATN3 FBN1 COL9A3 COL9A2 COL9A1
3 platelet-derived growth factor binding GO:0048407 9.16 COL2A1 COL1A1

Sources for Stickler Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
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45 MGI
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
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