MCID: STC015
MIFTS: 34

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:
50OMIM, 46NIH Rare Diseases, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Stickler Syndrome, Type I:

Name: Stickler Syndrome, Type I 50 12 48
Stickler Syndrome Type 1 46 52
Stickler Syndrome 1 68 25
Stl1 46 68
Aom 46 68
Arthro-Ophthalmopathy Hereditary Progressive 68
Arthroophthalmopathy, Hereditary Progressive 46
 
Stickler Syndrome, Membranous Vitreous Type 46
Stickler Syndrome Membranous Vitreous Type 68
Stickler Syndrome, Vitreous Type 1 46
Stickler Syndrome Vitreous Type 1 68
Stickler Syndrome, Type 1 66
Stickler Syndrome Type I 68

Characteristics:

Orphanet epidemiological data:

52
stickler syndrome type 1:
Inheritance: Autosomal dominant

HPO:

62
stickler syndrome, type i:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 108300
Orphanet52 ORPHA90653
ICD10 via Orphanet29 Q87.5
MESH via Orphanet38 C537492
MeSH37 D003240

Summaries for Stickler Syndrome, Type I

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OMIM:50 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 stickler sydrome, type i, nonsyndromic ocular and col2a1-associated stickler syndrome, 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:46 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:68 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

Symptoms:

 52 (show all 20)
  • hypoplasia of the maxilla
  • long philtrum
  • cataract
  • proptosis
  • retinal detachment
  • myopia
  • visual loss
  • intellectual disability
  • mitral valve prolapse
  • osteoarthritis
  • arthralgia
  • short nose
  • abnormality of the vitreous humor
  • abnormality of epiphysis morphology
  • abnormality of vertebral epiphysis morphology
  • cleft palate
  • sensorineural hearing impairment
  • platyspondyly
  • skeletal dysplasia
  • joint hyperflexibility

HPO human phenotypes related to Stickler Syndrome, Type I:

(show all 43)
id Description Frequency HPO Source Accession
1 long philtrum hallmark (90%) HP:0000343
2 cataract hallmark (90%) HP:0000518
3 retinal detachment hallmark (90%) HP:0000541
4 myopia hallmark (90%) HP:0000545
5 skeletal dysplasia hallmark (90%) HP:0002652
6 short nose hallmark (90%) HP:0003196
7 abnormality of the vitreous humor hallmark (90%) HP:0004327
8 cleft palate typical (50%) HP:0000175
9 sensorineural hearing impairment typical (50%) HP:0000407
10 proptosis typical (50%) HP:0000520
11 platyspondyly typical (50%) HP:0000926
12 joint hypermobility typical (50%) HP:0001382
13 disproportionate tall stature typical (50%) HP:0001519
14 abnormality of the mitral valve typical (50%) HP:0001633
15 osteoarthritis typical (50%) HP:0002758
16 arthralgia typical (50%) HP:0002829
17 abnormality of vertebral epiphysis morphology typical (50%) HP:0100734
18 conductive hearing impairment occasional (7.5%) HP:0000405
19 cataract occasional (7.5%) HP:0000518
20 visual impairment occasional (7.5%) HP:0000505
21 cognitive impairment occasional (7.5%) HP:0100543
22 cleft palate HP:0000175
23 pierre-robin sequence HP:0000201
24 malar flattening HP:0000272
25 sensorineural hearing impairment HP:0000407
26 anteverted nares HP:0000463
27 glaucoma HP:0000501
28 retinal detachment HP:0000541
29 myopia HP:0000545
30 blindness HP:0000618
31 pectus excavatum HP:0000767
32 platyspondyly HP:0000926
33 arachnodactyly HP:0001166
34 disproportionate tall stature HP:0001519
35 mitral valve prolapse HP:0001634
36 scoliosis HP:0002650
37 spondyloepiphyseal dysplasia HP:0002655
38 kyphosis HP:0002808
39 arthropathy HP:0003040
40 beaking of vertebral bodies HP:0004568
41 depressed nasal bridge HP:0005280
42 irregular femoral epiphysis HP:0006361
43 obsolete flat midface HP:0040199

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 125

Anatomical Context for Stickler Syndrome, Type I

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

34
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:

68
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 23)
id Gene Variation Type Significance SNP ID Assembly Location
1COL2A1NM_001844.4(COL2A1): c.85+1G> Csingle nucleotide variantPathogenicrs727503882GRCh37Chr 12, 48398019: 48398019
2COL2A1NM_001844.4(COL2A1): c.2794C> T (p.Arg932Ter)single nucleotide variantPathogenicrs121912866GRCh37Chr 12, 48372481: 48372481
3COL2A1COL2A1, 1-BP DEL, EX40deletionPathogenic
4COL2A1NM_001844.4(COL2A1): c.625C> T (p.Arg209Ter)single nucleotide variantPathogenicrs121912869GRCh37Chr 12, 48389687: 48389687
5COL2A1NM_001844.4(COL2A1): c.3138delT (p.Gly1047Alafs)deletionPathogenicrs121912873GRCh37Chr 12, 48371410: 48371410
6COL2A1NM_001844.4(COL2A1): c.908G> A (p.Gly303Asp)single nucleotide variantPathogenicrs121912877GRCh37Chr 12, 48387608: 48387608
7COL2A1COL2A1, 1-BP DEL, EX50deletionPathogenic
8COL2A1COL2A1, IVS17, A-G, -2single nucleotide variantPathogenic
9COL2A1COL2A1, IVS25DS, G-A, +1single nucleotide variantPathogenic
10COL2A1NM_001844.4(COL2A1): c.1693C> T (p.Arg565Cys)single nucleotide variantPathogenicrs121912884GRCh37Chr 12, 48379358: 48379358
11COL2A1NM_001844.4(COL2A1): c.1999C> T (p.Leu667Phe)single nucleotide variantPathogenicrs121912885GRCh37Chr 12, 48377218: 48377218
12COL2A1NM_001844.4(COL2A1): c.1957C> T (p.Arg653Ter)single nucleotide variantPathogenicrs121912893GRCh37Chr 12, 48377504: 48377504
13COL2A1NM_001844.4(COL2A1): c.762+1G> Asingle nucleotide variantPathogenicrs794727026GRCh37Chr 12, 48389037: 48389037
14COL2A1NM_001844.4(COL2A1): c.1056delC (p.Ala353Glnfs)deletionPathogenicrs794727185GRCh37Chr 12, 48383556: 48383556
15COL2A1NM_001844.4(COL2A1): c.1214delG (p.Gly405Valfs)deletionPathogenicrs794727225GRCh37Chr 12, 48381401: 48381401
16COL2A1NM_001844.4(COL2A1): c.258C> A (p.Cys86Ter)single nucleotide variantPathogenicrs794727261GRCh37Chr 12, 48393736: 48393736
17COL2A1NM_001844.4(COL2A1): c.1420-2A> Csingle nucleotide variantPathogenicrs794727377GRCh37Chr 12, 48380228: 48380228
18COL2A1NM_001844.4(COL2A1): c.1861G> A (p.Gly621Arg)single nucleotide variantLikely pathogenicrs794727462GRCh37Chr 12, 48378355: 48378355
19COL2A1NM_001844.4(COL2A1): c.2428G> T (p.Gly810Cys)single nucleotide variantLikely pathogenicrs794727596GRCh37Chr 12, 48375161: 48375161
20COL2A1NM_001844.4(COL2A1): c.2530C> T (p.Gln844Ter)single nucleotide variantPathogenicrs794727607GRCh37Chr 12, 48374432: 48374432
21COL2A1NM_001844.4(COL2A1): c.3106C> T (p.Arg1036Ter)single nucleotide variantPathogenicrs748459670GRCh37Chr 12, 48371798: 48371798
22COL2A1NM_001844.4(COL2A1): c.3791_3794delACCA (p.Asn1264Argfs)deletionPathogenicrs794727748GRCh37Chr 12, 48369192: 48369195
23COL2A1NM_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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet