MCID: STC001
MIFTS: 60

Stickler Syndrome

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

Aliases & Classifications for Stickler Syndrome

MalaCards integrated aliases for Stickler Syndrome:

Name: Stickler Syndrome 12 73 25 20 43 58 36 29 6 15 39 70
Hereditary Progressive Arthroophthalmopathy 58
Hereditary Arthro-Ophthalmo-Dystrophy 43
Hereditary Arthro-Ophthalmopathy 43
Stickler Syndrome, Type 1 70
Arthroophthalmopathy 25
Stickler Dysplasia 43

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:

25
Penetrance Penetrance is complete.

Classifications:

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


Summaries for Stickler Syndrome

MedlinePlus Genetics : 43 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 stickler syndrome, type i and otospondylomegaepiphyseal dysplasia, autosomal dominant. 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. The drug Anesthetics has been mentioned in the context of this disorder. Affiliated tissues include eye, bone and tongue, 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.

GARD : 20 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 : 73 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 182)
# Related Disease Score Top Affiliating Genes
1 stickler syndrome, type i 33.4 LOXL3 COL9A2 COL2A1 COL11A1 ALMS1
2 otospondylomegaepiphyseal dysplasia, autosomal dominant 33.1 COL9A1 COL5A2 COL2A1 COL11A2 COL11A1
3 otospondylomegaepiphyseal dysplasia, autosomal recessive 32.5 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
4 marshall syndrome 32.5 COL9A3 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
5 autosomal recessive stickler syndrome 32.4 LOXL3 COL9A3 COL9A2 COL9A1 COL11A2 COL11A1
6 vitreoretinal degeneration 32.4 VCAN-AS1 COL9A2 COL4A3 COL2A1 COL11A1
7 retinal detachment 31.8 COL9A3 COL9A2 COL9A1 COL2A1 COL11A1
8 myopia 31.6 LRP2 LOXL3 CRYAA COL9A2 COL9A1 COL2A1
9 cleft palate, isolated 31.4 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1 BMP4
10 sensorineural hearing loss 31.1 LRP2 LOXHD1 COL9A2 COL9A1 COL2A1 COL11A2
11 spondyloepiphyseal dysplasia with congenital joint dislocations 31.0 COL9A3 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
12 wagner syndrome 30.9 VCAN-AS1 COL2A1
13 cataract 30.9 CRYAA COL9A1 COL2A1 COL11A1 BMP4
14 vitreous syneresis 30.8 COL9A3 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
15 osteochondrodysplasia 30.8 COL9A3 COL9A2 COL9A1 COL5A2 COL2A1 COL11A2
16 fibrochondrogenesis 30.8 COL9A3 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
17 osteochondrosis 30.7 COL9A3 COL9A2 COL9A1 COL2A1
18 osteochondritis dissecans 30.7 COL9A3 COL9A2 COL9A1
19 multiple epiphyseal dysplasia 30.6 COL9A3 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
20 marfan syndrome 30.5 COL9A1 COL5A2 COL2A1
21 back pain 30.5 COL9A3 COL9A2
22 achondrogenesis, type ii 30.5 COL9A1 COL2A1 COL11A2 COL11A1
23 intervertebral disc disease 30.4 COL9A3 COL9A2 COL11A1
24 vitreoretinal dystrophy 30.4 CRYAA COL11A1
25 synovial chondromatosis 30.4 COL2A1 BMP4
26 fibrochondrogenesis 1 30.4 COL9A3 COL9A2 COL9A1 COL11A2 COL11A1
27 pontocerebellar hypoplasia, type 9 30.4 COL11A1 AMPD2
28 proteinuria, chronic benign 30.4 MFF-DT LRP2 COL4A3
29 kniest dysplasia 30.4 COL9A3 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
30 achondrogenesis 30.4 COL9A3 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
31 stickler syndrome, type ii 11.8
32 stickler syndrome, type i, nonsyndromic ocular 11.6
33 stickler syndrome, type iv 11.6
34 stickler syndrome, type v 11.6
35 isolated pierre robin sequence 11.1
36 cortical defects, wormian bones, and dentinogenesis imperfecta 11.0
37 kohler's disease 10.5 COL2A1 COL11A2 COL11A1
38 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.5
39 multiple epiphyseal dysplasia, autosomal dominant 10.5 COL9A3 COL9A2 COL9A1
40 pierre robin syndrome 10.5
41 hypochondrogenesis 10.5 COL9A2 COL9A1 COL2A1
42 epiphyseal dysplasia, multiple, 6 10.5 COL9A3 COL9A2 COL9A1
43 macroglossia 10.5 COL9A1 COL2A1 COL11A1
44 epiphyseal dysplasia, multiple, 5 10.5 COL9A3 COL9A2 COL9A1
45 epiphyseal dysplasia, multiple, 3 10.5 COL9A3 COL9A2 COL9A1
46 epiphyseal dysplasia, multiple, 2 10.5 COL9A3 COL9A2 COL9A1
47 achondrogenesis, type ib 10.5 COL9A3 COL9A2 COL9A1
48 scheuermann disease 10.5 COL9A3 COL2A1
49 epiphyseal dysplasia, multiple, 1 10.5 COL9A3 COL9A2 COL9A1
50 familial isolated pituitary adenoma 10.5 LRP2 CDH23

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 epicanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000286
6 myopia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000545
7 arthralgia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002829
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 abnormal vitreous humor morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0004327
15 midface retrusion 58 31 hallmark (90%) Very frequent (99-80%) HP:0011800
16 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
17 kyphosis 58 31 frequent (33%) Frequent (79-30%) HP:0002808
18 macroglossia 58 31 frequent (33%) Frequent (79-30%) HP:0000158
19 chronic otitis media 58 31 frequent (33%) Frequent (79-30%) HP:0000389
20 recurrent respiratory infections 58 31 frequent (33%) Frequent (79-30%) HP:0002205
21 pectus carinatum 58 31 frequent (33%) Frequent (79-30%) HP:0000768
22 sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000407
23 anteverted nares 58 31 frequent (33%) Frequent (79-30%) HP:0000463
24 gastroesophageal reflux 58 31 frequent (33%) Frequent (79-30%) HP:0002020
25 genu valgum 58 31 frequent (33%) Frequent (79-30%) HP:0002857
26 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
27 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
28 mitral valve prolapse 58 31 frequent (33%) Frequent (79-30%) HP:0001634
29 arrhythmia 58 31 frequent (33%) Frequent (79-30%) HP:0011675
30 arachnodactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001166
31 disproportionate tall stature 58 31 frequent (33%) Frequent (79-30%) HP:0001519
32 depressed nasal ridge 58 31 frequent (33%) Frequent (79-30%) HP:0000457
33 cleft upper lip 58 31 frequent (33%) Frequent (79-30%) HP:0000204
34 platyspondyly 58 31 frequent (33%) Frequent (79-30%) HP:0000926
35 joint hyperflexibility 58 31 frequent (33%) Frequent (79-30%) HP:0005692
36 proptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000520
37 glossoptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000162
38 osteoarthritis 58 31 frequent (33%) Frequent (79-30%) HP:0002758
39 bone pain 58 31 frequent (33%) Frequent (79-30%) HP:0002653
40 astigmatism 58 31 frequent (33%) Frequent (79-30%) HP:0000483
41 hypotonia 31 frequent (33%) HP:0001252
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 skeletal muscle atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003202
48 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
49 reduced bone mineral density 58 31 occasional (7.5%) Occasional (29-5%) HP:0004349
50 hemiplegia/hemiparesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004374

MGI Mouse Phenotypes related to Stickler Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.21 ALMS1 AMPD2 BMP4 CDH23 COL11A1 COL11A2
2 growth/size/body region MP:0005378 10.13 ALMS1 AMPD2 BMP4 CDH23 COL11A1 COL11A2
3 hearing/vestibular/ear MP:0005377 10.03 ALMS1 BMP4 CDH23 COL11A1 COL11A2 COL2A1
4 craniofacial MP:0005382 10.01 BMP4 CDH23 COL11A1 COL11A2 COL2A1 LOXL3
5 digestive/alimentary MP:0005381 9.91 BMP4 CDH23 COL11A1 COL2A1 LOXL3 LRP2
6 respiratory system MP:0005388 9.7 BMP4 COL11A1 COL2A1 COL5A2 LOXL3 LRP2
7 skeleton MP:0005390 9.7 BMP4 CDH23 COL11A1 COL11A2 COL2A1 COL5A2
8 vision/eye MP:0005391 9.32 ALMS1 BMP4 CDH23 COL2A1 COL4A3 COL5A2

Drugs & Therapeutics for Stickler Syndrome

Drugs for Stickler Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Anesthetics Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Scleral Buckling for Retinal Detachment Prevention in Genetically Confirmed Stickler Syndrome : a Randomized Controlled Trial Not yet recruiting NCT04465188 Phase 2

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, Tongue, Skeletal Muscle, Pituitary, Retina, Placenta

Publications for Stickler Syndrome

Articles related to Stickler Syndrome:

(show top 50) (show all 406)
# Title Authors PMID Year
1
Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing. 25 6 61
25240749 2014
2
Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene. 6 25 61
21421862 2011
3
A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome. 6 25 61
21671392 2011
4
Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1. 61 6 25
20513134 2010
5
A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene. 61 6 25
16909383 2006
6
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. 61 25 6
11007540 2000
7
Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes. 61 25 6
10486316 1999
8
Stickler syndrome: further mutations in COL11A1 and evidence for additional locus heterogeneity. 25 6 61
10573014 1999
9
HEREDITARY PROGRESSIVE ARTHRO-OPHTHALMOPATHY. 25 6
14299791 1965
10
Two Likely Pathogenic Variants of COL2A1 in Unrelated Korean Patients With Ocular-Only Variants of Stickler Syndrome: The First Molecular Diagnosis in Korea. 6 61
26709265 2016
11
A novel COL11A1 missense mutation in siblings with non-ocular Stickler syndrome. 61 6
27081569 2016
12
Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies. 61 6
26443184 2016
13
Mosaicism in Stickler syndrome. 6 61
22522174 2012
14
Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients. 61 6
20179744 2010
15
Autosomal dominant rhegmatogenous retinal detachment associated with an Arg453Ter mutation in the COL2A1 gene. 61 6
12939326 2003
16
Rapid determination of COL2A1 mutations in individuals with Stickler syndrome: analysis of potential premature termination codons. 61 6
10982970 2000
17
Molecular diagnosis of Stickler syndrome: a COL2A1 stop codon mutation screening strategy that is not compromised by mutant mRNA instability. 6 61
10706362 2000
18
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
19
A-2-->G transition at the 3' acceptor splice site of IVS17 characterizes the COL2A1 gene mutation in the original Stickler syndrome kindred. 6 61
8737653 1996
20
Stickler syndrome. A mutation in the nonhelical 3' end of type II procollagen gene. 6 61
7487609 1995
21
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. 6 61
8406454 1993
22
A second mutation in the type II procollagen gene (COL2AI) causing stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon. 6 61
8434604 1993
23
Procollagen II gene mutation in Stickler syndrome. 6 61
1444917 1992
24
Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy). 6 61
1677770 1991
25
A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis. 6
32963807 2020
26
A novel dominant COL11A1 mutation in a child with Stickler syndrome type II is associated with recurrent fractures. 61 20
28971234 2018
27
Osteoporosis in Stickler syndrome. A new family case with bone histology study. 20 61
28159459 2017
28
Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. 6
27959697 2017
29
The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype. 6
26626311 2016
30
Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene. 61 25
24273071 2014
31
Deletions within COL11A1 in Type 2 stickler syndrome detected by multiplex ligation-dependent probe amplification (MLPA). 25 61
23621912 2013
32
A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies. 25 61
17236192 2007
33
Robin sequence: a retrospective review of 115 patients. 61 25
16443284 2006
34
A type II collagen mutation also results in oto-spondylo-megaepiphyseal dysplasia. 6
16189708 2005
35
Stickler syndrome: clinical characteristics and diagnostic criteria. 25 61
16152640 2005
36
A stop codon mutation in COL11A2 induces exon skipping and leads to non-ocular Stickler syndrome. 25 61
15372529 2004
37
Pierre Robin sequence in Denmark: a retrospective population-based epidemiological study. 25 61
14697070 2004
38
Snowflake vitreoretinal degeneration: follow-up of the original family. 25 61
14644728 2003
39
Clinical variability of Stickler syndrome: role of exon 2 of the collagen COL2A1 gene. 25 61
12686304 2003
40
Posterior chorioretinal atrophy and vitreous phenotype in a family with Stickler syndrome from a mutation in the COL2A1 gene. 25 61
12511349 2003
41
The Stickler syndrome: genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1. 61 25
12544472 2003
42
Prevalence of mitral valve prolapse in Stickler syndrome. 61 25
12503098 2003
43
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 25
12204008 2002
44
Deletions and duplications of Gly-Xaa-Yaa triplet repeats in the triple helical domains of type I collagen chains disrupt helix formation and result in several types of osteogenesis imperfecta. 6
11668615 2001
45
Stickler syndrome and vitreoretinal degeneration: correlation between locus mutation and vitreous phenotype. Apropos of a case. 25 61
11450497 2001
46
Thoracolumbar spinal abnormalities in Stickler syndrome. 25 61
11224888 2001
47
Diagnosis and treatment of the Pierre Robin sequence: results of a retrospective clinical study and review of the literature. 25 61
11195018 2001
48
Clinical variability of Stickler syndrome with a COL2A1 haploinsufficiency mutation: implications for genetic counselling. 25 61
10819645 2000
49
Destabilization of osteogenesis imperfecta collagen-like model peptides correlates with the identity of the residue replacing glycine. 6
10725403 2000
50
Hearing loss in the nonocular Stickler syndrome caused by a COL11A2 mutation. 61 25
10718438 2000

Variations for Stickler Syndrome

ClinVar genetic disease variations for Stickler Syndrome:

6 (show top 50) (show all 371)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COL11A1 NM_001854.4(COL11A1):c.1874G>T (p.Gly625Val) SNV Pathogenic 17131 rs121912943 GRCh37: 1:103470189-103470189
GRCh38: 1:103004633-103004633
2 COL11A1 COL11A1, 54-BP EX DEL, AS, AG-TG Deletion Pathogenic 17135 GRCh37:
GRCh38:
3 COL2A1 NM_001844.5(COL2A1):c.2794C>T (p.Arg932Ter) SNV Pathogenic 17355 rs121912866 GRCh37: 12:48372481-48372481
GRCh38: 12:47978698-47978698
4 COL2A1 COL2A1, 1-BP DEL, EX40 Deletion Pathogenic 17358 GRCh37:
GRCh38:
5 COL2A1 NM_001844.5(COL2A1):c.625C>T (p.Arg209Ter) SNV Pathogenic 17360 rs121912869 GRCh37: 12:48389687-48389687
GRCh38: 12:47995904-47995904
6 COL2A1 NM_001844.5(COL2A1):c.3138del (p.Gly1047fs) Deletion Pathogenic 17365 rs121912873 GRCh37: 12:48371410-48371410
GRCh38: 12:47977627-47977627
7 COL2A1 COL2A1, 1-BP DEL, EX50 Deletion Pathogenic 17373 GRCh37:
GRCh38:
8 COL2A1 COL2A1, IVS17, A-G, -2 SNV Pathogenic 17374 GRCh37:
GRCh38:
9 COL2A1 NM_001844.5(COL2A1):c.1680+1G>A SNV Pathogenic 17382 rs1057524696 GRCh37: 12:48379510-48379510
GRCh38: 12:47985727-47985727
10 COL2A1 NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys) SNV Pathogenic 17383 rs121912884 GRCh37: 12:48379358-48379358
GRCh38: 12:47985575-47985575
11 COL2A1 NM_001844.5(COL2A1):c.709-2A>G SNV Pathogenic 17398 rs1592232116 GRCh37: 12:48389093-48389093
GRCh38: 12:47995310-47995310
12 COL9A2 NM_001852.4(COL9A2):c.843_846+4del Deletion Pathogenic 29645 rs606231376 GRCh37: 1:40775606-40775613
GRCh38: 1:40309934-40309941
13 COL9A1 NM_001851.5(COL9A1):c.1519C>T (p.Arg507Ter) SNV Pathogenic 161449 rs189754995 GRCh37: 6:70965078-70965078
GRCh38: 6:70255375-70255375
14 COL2A1 NM_001844.5(COL2A1):c.3357_3358insCT (p.Glu1120fs) Insertion Pathogenic 162040 rs672601354 GRCh37: 12:48370672-48370673
GRCh38: 12:47976889-47976890
15 COL2A1 NM_001844.5(COL2A1):c.1191_1199dup (p.Ser400_Gly402dup) Duplication Pathogenic 162041 rs672601355 GRCh37: 12:48381415-48381416
GRCh38: 12:47987632-47987633
16 COL2A1 NM_001844.5(COL2A1):c.1177G>A (p.Gly393Ser) SNV Pathogenic 547252 rs1025202963 GRCh37: 12:48381438-48381438
GRCh38: 12:47987655-47987655
17 COL2A1 NM_001844.5(COL2A1):c.2381del (p.Pro794fs) Deletion Pathogenic 547258 rs1555166218 GRCh37: 12:48375587-48375587
GRCh38: 12:47981804-47981804
18 COL2A1 NM_001844.5(COL2A1):c.3166-1G>A SNV Pathogenic 547260 rs1555165204 GRCh37: 12:48371211-48371211
GRCh38: 12:47977428-47977428
19 COL2A1 NM_001844.5(COL2A1):c.3731del (p.Ala1244fs) Deletion Pathogenic 547263 rs1555164735 GRCh37: 12:48369255-48369255
GRCh38: 12:47975472-47975472
20 COL11A1 NM_001854.4(COL11A1):c.4396G>T (p.Glu1466Ter) SNV Pathogenic 560981 rs866783525 GRCh37: 1:103355079-103355079
GRCh38: 1:102889523-102889523
21 COL2A1 NM_001844.5(COL2A1):c.2035A>T (p.Lys679Ter) SNV Pathogenic 598754 rs1565679039 GRCh37: 12:48377182-48377182
GRCh38: 12:47983399-47983399
22 COL11A1 NM_001854.4(COL11A1):c.3438+2_3438+3del Microsatellite Pathogenic 619967 rs1557847904 GRCh37: 1:103404588-103404589
GRCh38: 1:102939032-102939033
23 COL2A1 NM_001844.5(COL2A1):c.578_579GC[1] (p.Ala194fs) Microsatellite Pathogenic 623179 rs1592233968 GRCh37: 12:48390359-48390360
GRCh38: 12:47996576-47996577
24 COL2A1 NM_001844.5(COL2A1):c.3642del (p.Gly1215fs) Deletion Pathogenic 635549 rs1592196744 GRCh37: 12:48369344-48369344
GRCh38: 12:47975561-47975561
25 COL2A1 NM_001844.5(COL2A1):c.491del (p.Pro164fs) Deletion Pathogenic 689620 rs1592235241 GRCh37: 12:48391429-48391429
GRCh38: 12:47997646-47997646
26 COL2A1 NM_001844.5(COL2A1):c.2908_2909dup (p.Pro971fs) Duplication Pathogenic 692014 rs1592202517 GRCh37: 12:48372167-48372168
GRCh38: 12:47978384-47978385
27 COL2A1 NM_001844.5(COL2A1):c.655G>A (p.Gly219Arg) SNV Pathogenic 430186 rs1131691822 GRCh37: 12:48389546-48389546
GRCh38: 12:47995763-47995763
28 COL2A1 NM_001844.5(COL2A1):c.3106C>T (p.Arg1036Ter) SNV Pathogenic 197503 rs748459670 GRCh37: 12:48371798-48371798
GRCh38: 12:47978015-47978015
29 COL2A1 NM_001844.5(COL2A1):c.2679+1G>A SNV Pathogenic 802843 rs1592205758 GRCh37: 12:48373791-48373791
GRCh38: 12:47980008-47980008
30 COL2A1 NM_001844.5(COL2A1):c.2101C>T (p.Arg701Ter) SNV Pathogenic 449397 rs1555166555 GRCh37: 12:48376723-48376723
GRCh38: 12:47982940-47982940
31 COL2A1 NM_001844.5(COL2A1):c.823C>T (p.Arg275Cys) SNV Pathogenic 17368 rs121912876 GRCh37: 12:48387824-48387824
GRCh38: 12:47994041-47994041
32 COL2A1 NM_001844.5(COL2A1):c.3598-1G>A SNV Pathogenic 807558 rs1592196867 GRCh37: 12:48369389-48369389
GRCh38: 12:47975606-47975606
33 COL11A1 NM_001854.4(COL11A1):c.1630-2del Deletion Pathogenic 372792 rs1057517989 GRCh37: 1:103474074-103474074
GRCh38: 1:103008518-103008518
34 LOXL3 NM_032603.5(LOXL3):c.1330_1332del (p.Leu444del) Deletion Pathogenic 624141 rs574365163 GRCh37: 2:74762799-74762801
GRCh38: 2:74535672-74535674
35 COL2A1 NM_001844.5(COL2A1):c.2678dup (p.Ala895fs) Duplication Pathogenic 966427 GRCh37: 12:48373792-48373793
GRCh38: 12:47980009-47980010
36 COL9A1 NM_001851.5(COL9A1):c.876+2T>A SNV Pathogenic 374336 rs149830493 GRCh37: 6:70991091-70991091
GRCh38: 6:70281388-70281388
37 COL2A1 NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys) SNV Pathogenic 17366 rs121912874 GRCh37: 12:48372112-48372112
GRCh38: 12:47978329-47978329
38 COL2A1 NM_001844.5(COL2A1):c.258C>A (p.Cys86Ter) SNV Pathogenic 195148 rs794727261 GRCh37: 12:48393736-48393736
GRCh38: 12:47999953-47999953
39 COL9A1 NM_001851.5(COL9A1):c.883C>T (p.Arg295Ter) SNV Pathogenic 17195 rs121912931 GRCh37: 6:70990736-70990736
GRCh38: 6:70281033-70281033
40 COL2A1 NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter) SNV Pathogenic 17395 rs121912893 GRCh37: 12:48377504-48377504
GRCh38: 12:47983721-47983721
41 COL2A1 NM_001844.5(COL2A1):c.1999C>T (p.Leu667Phe) SNV Pathogenic 17384 rs121912885 GRCh37: 12:48377218-48377218
GRCh38: 12:47983435-47983435
42 COL2A1 NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter) SNV Pathogenic 17395 rs121912893 GRCh37: 12:48377504-48377504
GRCh38: 12:47983721-47983721
43 ALMS1 NM_015120.4(ALMS1):c.6775del (p.Thr2259fs) Deletion Likely pathogenic 451381 rs1553404310 GRCh37: 2:73680423-73680423
GRCh38: 2:73453296-73453296
44 COL2A1 NM_001844.5(COL2A1):c.1364C>T (p.Thr455Met) SNV Likely pathogenic 1064931 GRCh37: 12:48380862-48380862
GRCh38: 12:47987079-47987079
45 COL9A2 NM_001852.4(COL9A2):c.1510C>T (p.Arg504Ter) SNV Likely pathogenic 1064932 GRCh37: 1:40769240-40769240
GRCh38: 1:40303568-40303568
46 COL2A1 NM_001844.5(COL2A1):c.3165+2_3166-84del Deletion Likely pathogenic 988096 GRCh37: 12:48371294-48371381
GRCh38: 12:47977511-47977598
47 COL11A1 NM_001854.4(COL11A1):c.1168G>T (p.Glu390Ter) SNV Likely pathogenic 973212 GRCh37: 1:103488375-103488375
GRCh38: 1:103022819-103022819
48 COL11A1 NM_001854.4(COL11A1):c.3115G>A (p.Gly1039Ser) SNV Likely pathogenic 929473 rs764282256 GRCh37: 1:103427475-103427475
GRCh38: 1:102961919-102961919
49 COL11A1 NM_001854.4(COL11A1):c.1684-1G>C SNV Likely pathogenic 1029385 GRCh37: 1:103471872-103471872
GRCh38: 1:103006316-103006316
50 COL2A1 NM_001844.5(COL2A1):c.1969G>A (p.Gly657Ser) SNV Likely pathogenic 802846 rs1269619781 GRCh37: 12:48377492-48377492
GRCh38: 12:47983709-47983709

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 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.6 COL9A3 COL9A2 COL9A1 COL5A2 COL4A3 COL2A1
2
Show member pathways
13.2 COL9A3 COL9A2 COL9A1 COL5A2 COL4A3 COL2A1
3
Show member pathways
12.8 COL9A3 COL9A2 COL9A1 COL5A2 COL4A3 COL2A1
4
Show member pathways
12.74 COL9A3 COL9A2 COL9A1 COL4A3 COL2A1
5
Show member pathways
12.69 COL9A3 COL9A2 COL9A1 COL5A2 COL4A3 COL2A1
6
Show member pathways
12.39 PLOD3 LOXL3 COL9A3 COL9A2 COL9A1 COL5A2
7
Show member pathways
12.02 PLOD3 LOXL3 COL9A3 COL9A2 COL9A1 COL5A2
8
Show member pathways
12 COL9A3 COL9A2 COL9A1 COL4A3 COL2A1
9 11.68 COL2A1 COL11A2 BMP4
10 11.41 COL9A3 COL9A2 COL9A1
11 11.24 COL9A3 COL9A2 COL9A1 COL4A3
12 10.71 COL9A3 COL9A2 COL9A1 COL5A2 COL4A3 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 10.14 PLOD3 LOXL3 COL9A3 COL9A2 COL9A1 COL5A2
2 extracellular space GO:0005615 10.11 PLOD3 LOXL3 COL9A3 COL9A2 COL9A1 COL5A2
3 extracellular matrix GO:0031012 9.86 COL9A3 COL9A2 COL9A1 COL5A2 COL4A3 COL2A1
4 collagen-containing extracellular matrix GO:0062023 9.81 PLOD3 COL9A3 COL9A2 COL9A1 COL5A2 COL4A3
5 basement membrane GO:0005604 9.73 COL9A3 COL9A1 COL4A3 COL2A1
6 endoplasmic reticulum lumen GO:0005788 9.65 PLOD3 COL9A3 COL9A2 COL9A1 COL5A2 COL4A3
7 collagen type IX trimer GO:0005594 9.5 COL9A3 COL9A2 COL9A1
8 collagen type XI trimer GO:0005592 9.46 COL11A2 COL11A1
9 collagen trimer GO:0005581 9.23 COL9A3 COL9A2 COL9A1 COL5A2 COL4A3 COL2A1

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.76 CRYAA COL2A1 COL11A1 CDH23
2 sensory perception of sound GO:0007605 9.7 LRP2 LOXHD1 COL4A3 COL2A1 COL11A2 COL11A1
3 ossification GO:0001503 9.67 COL5A2 COL2A1 COL11A1 BMP4
4 roof of mouth development GO:0060021 9.65 LOXL3 COL2A1 COL11A2
5 skeletal system development GO:0001501 9.65 COL9A2 COL5A2 COL2A1 COL11A2 BMP4
6 cartilage development GO:0051216 9.62 COL2A1 COL11A2 COL11A1 BMP4
7 chondrocyte differentiation GO:0002062 9.61 COL2A1 COL11A2 BMP4
8 skeletal system morphogenesis GO:0048705 9.58 COL2A1 COL11A2 COL11A1
9 tissue homeostasis GO:0001894 9.56 COL2A1 COL11A2
10 extracellular matrix organization GO:0030198 9.56 COL9A3 COL9A2 COL9A1 COL5A2 COL4A3 COL2A1
11 cartilage condensation GO:0001502 9.55 COL2A1 COL11A1
12 lung morphogenesis GO:0060425 9.54 PLOD3 BMP4
13 secondary heart field specification GO:0003139 9.52 LRP2 BMP4
14 embryonic skeletal joint morphogenesis GO:0060272 9.51 COL2A1 BMP4
15 proteoglycan metabolic process GO:0006029 9.49 COL2A1 COL11A1
16 collagen fibril organization GO:0030199 9.1 PLOD3 LOXL3 COL5A2 COL2A1 COL11A2 COL11A1

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

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 9.9 PLOD3 LRP2 LOXL3 CRYAA COL9A1 COL5A2
2 extracellular matrix structural constituent GO:0005201 9.56 COL9A3 COL9A2 COL9A1 COL5A2 COL4A3 COL2A1
3 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.23 COL9A3 COL9A2 COL9A1 COL5A2 COL4A3 COL2A1

Sources for Stickler Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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