MCID: STC015
MIFTS: 36

Stickler Syndrome, Type I malady

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

Aliases & Classifications for Stickler Syndrome, Type I

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Sources:
12diseasecard, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Stickler Syndrome, Type I:

Name: Stickler Syndrome, Type I 51 12 49
Stickler Syndrome Type 1 47 53
Stickler Syndrome 1 69 26
Stl1 47 69
Aom 47 69
Arthro-Ophthalmopathy Hereditary Progressive 69
Arthroophthalmopathy, Hereditary Progressive 47
 
Stickler Syndrome, Membranous Vitreous Type 47
Stickler Syndrome Membranous Vitreous Type 69
Stickler Syndrome, Vitreous Type 1 47
Stickler Syndrome Vitreous Type 1 69
Stickler Syndrome, Type 1 67
Stickler Syndrome Type I 69

Characteristics:

Orphanet epidemiological data:

53
stickler syndrome type 1:
Inheritance: Autosomal dominant

HPO:

63
stickler syndrome, type i:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 108300
Orphanet53 ORPHA90653
ICD10 via Orphanet30 Q87.5
MESH via Orphanet39 C537492
MeSH38 D003240

Summaries for Stickler Syndrome, Type I

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OMIM:51 Stickler syndrome is a clinically variable and genetically heterogeneous disorder characterized by ocular, auditory,... (108300) more...

MalaCards based summary: Stickler Syndrome, Type I, also known as stickler syndrome type 1, is related to otitis media and stickler sydrome, type i, nonsyndromic ocular, and has symptoms including long philtrum, cataract and retinal detachment. An important gene associated with Stickler Syndrome, Type I is COL2A1 (Collagen Type II Alpha 1 Chain). Affiliated tissues include eye, bone and tongue.

NIH Rare Diseases:47 Stickler syndrome is a group of hereditary connective tissue disorders characterized by distinctive facial features, eye abnormalities, hearing loss, and joint problems. The features vary widely among affected people. Stickler syndrome type 1 may be divided into 2 subgroups: the membranous vitreous type and a predominantly ocular type. Both are caused by mutations in the COL2A1 gene. Stickler syndrome type II, sometimes called the beaded vitreous type, is caused by mutations in the COL11A1 gene. Stickler syndrome type III, sometimes called the nonocular form, is caused by mutations in the COL11A2 gene. These forms of Stickler syndrome are inherited in an autosomal dominant manner. Stickler syndrome type IV is caused by mutations in the COL9A1 gene, and Stickler syndrome type V is caused by mutations in the COL9A2 gene. These types of Stickler syndrome are inherited in an autosomal recessive manner. Last updated: 2/8/2012

UniProtKB/Swiss-Prot:69 Stickler syndrome 1: An autosomal dominant form of Stickler syndrome, an inherited disorder that associates ocular signs with more or less complete forms of Pierre Robin sequence, bone disorders and sensorineural deafness. Ocular disorders may include juvenile cataract, myopia, strabismus, vitreoretinal or chorioretinal degeneration, retinal detachment, and chronic uveitis. Pierre Robin sequence includes an opening in the roof of the mouth (a cleft palate), a large tongue (macroglossia), and a small lower jaw (micrognathia). Bones are affected by slight platyspondylisis and large, often defective epiphyses. Juvenile joint laxity is followed by early signs of arthrosis. The degree of hearing loss varies among affected individuals and may become more severe over time. Syndrome expressivity is variable.

Related Diseases for Stickler Syndrome, Type I

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Graphical network of diseases related to Stickler Syndrome, Type I:



Diseases related to stickler syndrome, type i

Symptoms for Stickler Syndrome, Type I

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Symptoms by clinical synopsis from OMIM:

108300

Clinical features from OMIM:

108300

Human phenotypes related to Stickler Syndrome, Type I:

 63 53 (show all 41)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 long philtrum63 53 hallmark (90%) Very frequent (99-80%) HP:0000343
2 cataract63 53 hallmark (90%) Very frequent (99-80%) HP:0000518
3 retinal detachment63 53 hallmark (90%) Very frequent (99-80%) HP:0000541
4 myopia63 53 hallmark (90%) Very frequent (99-80%) HP:0000545
5 skeletal dysplasia63 53 hallmark (90%) Very frequent (99-80%) HP:0002652
6 short nose63 53 hallmark (90%) Very frequent (99-80%) HP:0003196
7 abnormality of the vitreous humor63 53 hallmark (90%) Very frequent (99-80%) HP:0004327
8 cleft palate63 53 typical (50%) Frequent (79-30%) HP:0000175
9 sensorineural hearing impairment63 53 typical (50%) Frequent (79-30%) HP:0000407
10 proptosis63 53 typical (50%) Frequent (79-30%) HP:0000520
11 platyspondyly63 53 typical (50%) Frequent (79-30%) HP:0000926
12 joint hypermobility63 typical (50%) HP:0001382
13 disproportionate tall stature63 typical (50%) HP:0001519
14 abnormality of the mitral valve63 typical (50%) HP:0001633
15 osteoarthritis63 53 typical (50%) Frequent (79-30%) HP:0002758
16 arthralgia63 53 typical (50%) Frequent (79-30%) HP:0002829
17 abnormality of vertebral epiphysis morphology63 53 typical (50%) Frequent (79-30%) HP:0100734
18 conductive hearing impairment63 occasional (7.5%) HP:0000405
19 visual impairment63 occasional (7.5%) HP:0000505
20 cognitive impairment63 occasional (7.5%) HP:0100543
21 pierre-robin sequence63 HP:0000201
22 malar flattening63 HP:0000272
23 anteverted nares63 HP:0000463
24 glaucoma63 HP:0000501
25 blindness63 HP:0000618
26 pectus excavatum63 HP:0000767
27 arachnodactyly63 HP:0001166
28 mitral valve prolapse63 53 Frequent (79-30%) HP:0001634
29 scoliosis63 HP:0002650
30 spondyloepiphyseal dysplasia63 HP:0002655
31 kyphosis63 HP:0002808
32 arthropathy63 HP:0003040
33 beaking of vertebral bodies63 HP:0004568
34 depressed nasal bridge63 HP:0005280
35 irregular femoral epiphysis63 HP:0006361
36 obsolete flat midface63 HP:0040199
37 hypoplasia of the maxilla53 Very frequent (99-80%)
38 visual loss53 Occasional (29-5%)
39 intellectual disability53 Occasional (29-5%)
40 abnormality of epiphysis morphology53 Frequent (79-30%)
41 joint hyperflexibility53 Frequent (79-30%)

Drugs & Therapeutics for Stickler Syndrome, Type I

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Safety, Efficacy, and Tolerability Study of PF-06480605 in Subjects With Moderate to Severe Ulcerative Colitis.RecruitingNCT02840721Phase 2
2Studies of Heritable Disorders of Connective TissueCompletedNCT00270686
3Study of Heritable Connective Tissue DisordersCompletedNCT00001641
4Study of Skeletal Disorders and Short StatureCompletedNCT00001754
5Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168

Search NIH Clinical Center for Stickler Syndrome, Type I

Genetic Tests for Stickler Syndrome, Type I

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Genetic tests related to Stickler Syndrome, Type I:

id Genetic test Affiliating Genes
1 Stickler Syndrome Type 126

Anatomical Context for Stickler Syndrome, Type I

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MalaCards organs/tissues related to Stickler Syndrome, Type I:

35
Eye, Bone, Tongue

Animal Models for Stickler Syndrome, Type I or affiliated genes

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Publications for Stickler Syndrome, Type I

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Articles related to Stickler Syndrome, Type I:

idTitleAuthorsYear
1
Radiographic and tomographic analysis in patients with stickler syndrome type I. (23935403)
2013
2
Novel mutation in exon 2 of COL2A1 gene in Japanese family with Stickler Syndrome type I. (16021188)
2006
3
Stickler syndrome type I and Stapes ankylosis. (15533574)
2004

Variations for Stickler Syndrome, Type I

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UniProtKB/Swiss-Prot genetic disease variations for Stickler Syndrome, Type I:

69
id Symbol AA change Variation ID SNP ID
1COL2A1p.Arg904CysVAR_017645rs121912882
2COL2A1p.Arg565CysVAR_023927rs121912884
3COL2A1p.Gly240AspVAR_063892
4COL2A1p.Gly270ArgVAR_063893
5COL2A1p.Gly282AspVAR_063894
6COL2A1p.Gly453AlaVAR_063895rs794727339
7COL2A1p.Gly501ArgVAR_063896
8COL2A1p.Gly1158AlaVAR_063898

Clinvar genetic disease variations for Stickler Syndrome, Type I:

5 (show all 40)
id Gene Variation Type Significance SNP ID Assembly Location
1COL2A1NM_001844.4(COL2A1): c.85+1G> CSNVPathogenicrs727503882GRCh37Chr 12, 48398019: 48398019
2COL2A1NM_001844.4(COL2A1): c.2794C> T (p.Arg932Ter)SNVPathogenicrs121912866GRCh37Chr 12, 48372481: 48372481
3COL2A1COL2A1, 1-BP DEL, EX40deletionPathogenicChr na, -1: -1
4COL2A1NM_001844.4(COL2A1): c.625C> T (p.Arg209Ter)SNVPathogenicrs121912869GRCh37Chr 12, 48389687: 48389687
5COL2A1NM_001844.4(COL2A1): c.3138delT (p.Gly1047Alafs)deletionPathogenicrs121912873GRCh38Chr 12, 47977627: 47977627
6COL2A1NM_001844.4(COL2A1): c.908G> A (p.Gly303Asp)SNVPathogenicrs121912877GRCh37Chr 12, 48387608: 48387608
7COL2A1COL2A1, 1-BP DEL, EX50deletionPathogenicChr na, -1: -1
8COL2A1COL2A1, IVS17, A-G, -2SNVPathogenicChr na, -1: -1
9COL2A1NM_001844.4(COL2A1): c.1510G> T (p.Gly504Cys)SNVPathogenicrs121912880GRCh37Chr 12, 48380136: 48380136
10COL2A1COL2A1, IVS25DS, G-A, +1SNVPathogenicChr na, -1: -1
11COL2A1NM_001844.4(COL2A1): c.1693C> T (p.Arg565Cys)SNVPathogenicrs121912884GRCh37Chr 12, 48379358: 48379358
12COL2A1NM_001844.4(COL2A1): c.1999C> T (p.Leu667Phe)SNVPathogenicrs121912885GRCh37Chr 12, 48377218: 48377218
13COL2A1NM_001844.4(COL2A1): c.1957C> T (p.Arg653Ter)SNVPathogenicrs121912893GRCh37Chr 12, 48377504: 48377504
14COL2A1NM_001844.4(COL2A1): c.762+1G> ASNVPathogenicrs794727026GRCh37Chr 12, 48389037: 48389037
15COL2A1NM_001844.4(COL2A1): c.1056delC (p.Ala353Glnfs)deletionPathogenicrs794727185GRCh37Chr 12, 48383556: 48383556
16COL2A1NM_001844.4(COL2A1): c.1214delG (p.Gly405Valfs)deletionPathogenicrs794727225GRCh37Chr 12, 48381401: 48381401
17COL2A1NM_001844.4(COL2A1): c.258C> A (p.Cys86Ter)SNVPathogenicrs794727261GRCh37Chr 12, 48393736: 48393736
18COL2A1NM_001844.4(COL2A1): c.1358G> C (p.Gly453Ala)SNVPathogenicrs794727339GRCh37Chr 12, 48380868: 48380868
19COL2A1NM_001844.4(COL2A1): c.1510G> A (p.Gly504Ser)SNVPathogenicrs121912880GRCh37Chr 12, 48380136: 48380136
20COL2A1NM_001844.4(COL2A1): c.1420-2A> CSNVPathogenicrs794727377GRCh37Chr 12, 48380228: 48380228
21COL2A1NM_001844.4(COL2A1): c.1799G> T (p.Gly600Val)SNVLikely pathogenicrs794727438GRCh37Chr 12, 48378812: 48378812
22COL2A1NM_001844.4(COL2A1): c.1861G> A (p.Gly621Arg)SNVLikely pathogenicrs794727462GRCh38Chr 12, 47984572: 47984572
23COL2A1NM_001844.4(COL2A1): c.1924G> T (p.Gly642Ter)SNVPathogenicrs794727472GRCh37Chr 12, 48377887: 48377887
24COL2A1NM_001844.4(COL2A1): c.2015G> C (p.Gly672Ala)SNVPathogenicrs794727546GRCh37Chr 12, 48377202: 48377202
25COL2A1NM_001844.4(COL2A1): c.2428G> T (p.Gly810Cys)SNVLikely pathogenicrs794727596GRCh37Chr 12, 48375161: 48375161
26COL2A1NM_001844.4(COL2A1): c.2530C> T (p.Gln844Ter)SNVPathogenicrs794727607GRCh37Chr 12, 48374432: 48374432
27COL2A1NM_001844.4(COL2A1): c.3106C> T (p.Arg1036Ter)SNVPathogenicrs748459670GRCh37Chr 12, 48371798: 48371798
28COL2A1NM_001844.4(COL2A1): c.3275G> A (p.Gly1092Asp)SNVLikely pathogenicrs794727684GRCh37Chr 12, 48370937: 48370937
29COL2A1NM_001844.4(COL2A1): c.3791_3794delACCA (p.Asn1264Argfs)deletionPathogenicrs794727748GRCh37Chr 12, 48369192: 48369195
30COL2A1NM_001844.4(COL2A1): c.4447_4450delCCGG (p.Pro1483Serfs)deletionPathogenicrs794727761GRCh37Chr 12, 48367204: 48367207
31COL2A1NM_001844.4(COL2A1): c.3382G> C (p.Gly1128Arg)SNVPathogenicrs886042612GRCh37Chr 12, 48370648: 48370648
32COL2A1NM_001844.4(COL2A1): c.3574C> T (p.Arg1192Ter)SNVPathogenicrs886042651GRCh37Chr 12, 48369769: 48369769
33COL2A1NM_001844.4(COL2A1): c.3311G> A (p.Gly1104Glu)SNVLikely pathogenicrs886043356GRCh37Chr 12, 48370901: 48370901
34COL2A1NM_001844.4(COL2A1): c.2353C> T (p.Arg785Ter)SNVPathogenicrs886043410GRCh37Chr 12, 48375892: 48375892
35COL2A1NM_001844.4(COL2A1): c.1071delT (p.Pro358Leufs)deletionPathogenicrs886043797GRCh37Chr 12, 48383062: 48383062
36COL2A1NM_001844.4(COL2A1): c.714dupC (p.Met239Hisfs)duplicationPathogenicrs886043934GRCh37Chr 12, 48389086: 48389086
37COL2A1NM_001844.4(COL2A1): c.2382delT (p.Gly795Alafs)deletionPathogenicrs886044151GRCh37Chr 12, 48375586: 48375586
38COL2A1NM_001844.4(COL2A1): c.297delA (p.Gln99Hisfs)deletionPathogenicrs886044245GRCh37Chr 12, 48392210: 48392210
39COL2A1NM_001844.4(COL2A1): c.2465delG (p.Gly822Valfs)deletionPathogenicrs886044292GRCh37Chr 12, 48374750: 48374750
40COL2A1NM_001844.4(COL2A1): c.1052delG (p.Gly351Alafs)deletionPathogenicrs398123628GRCh37Chr 12, 48383560: 48383560

Expression for genes affiliated with Stickler Syndrome, Type I

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Search GEO for disease gene expression data for Stickler Syndrome, Type I.

Pathways for genes affiliated with Stickler Syndrome, Type I

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GO Terms for genes affiliated with Stickler Syndrome, Type I

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Sources for Stickler Syndrome, Type I

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet