MCID: STC015
MIFTS: 40

Stickler Syndrome, Type I malady

Genetic diseases, Rare diseases, Eye diseases, Ear diseases, Bone diseases, Fetal diseases categories

Aliases & Classifications for Stickler Syndrome, Type I

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Sources:
49OMIM, 11diseasecard, 47Novoseek, 65UMLS, 45NIH Rare Diseases, 51Orphanet, 24GTR, 67UniProtKB/Swiss-Prot, 28ICD10 via Orphanet, 37MESH via Orphanet, 34MedGen, 36MeSH
See all sources

Aliases & Descriptions for Stickler Syndrome, Type I:

Name: Stickler Syndrome, Type I 49 11 47
Stickler Syndrome Type 1 45 51 24
Stl1 45 67
Aom 45 67
Arthro-Ophthalmopathy Hereditary Progressive 67
Arthroophthalmopathy, Hereditary Progressive 45
Stickler Syndrome, Membranous Vitreous Type 45
 
Stickler Syndrome Membranous Vitreous Type 67
Stickler Syndrome, Vitreous Type 1 45
Stickler Syndrome Vitreous Type 1 67
Stickler Syndrome Type I 67
Stickler Syndrome 1 67
Stickler Syndrome 65


Classifications:



Characteristics (Orphanet epidemiological data):

51
stickler syndrome type 1:
Inheritance: Autosomal dominant


External Ids:

OMIM49 108300
Orphanet51 90653
ICD10 via Orphanet28 Q87.5
MESH via Orphanet37 C537492
MeSH36 D003240

Summaries for Stickler Syndrome, Type I

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OMIM:49 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 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). Affiliated tissues include eye, bone and tongue.

NIH Rare Diseases:45 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:67 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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Diseases in the Stickler Syndrome family:

Stickler Syndrome, Type V Stickler Syndrome, Type Ii
Stickler Syndrome, Type Iii Stickler Syndrome, Type Iv
stickler syndrome, type i 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, Type I via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 43)
idRelated DiseaseScoreTop Affiliating Genes
1otitis media10.5
2stickler syndrome10.5
3stickler syndrome col2a110.4
4auditory system disease10.3
5stickler sydrome, type i, nonsyndromic ocular10.3
6ankylosis10.3
7stickler syndrome, type ii10.2
8stickler syndrome, type iii10.2
9retinal detachment10.2
10retinitis10.2
11col2a1-associated stickler syndrome10.2
12col2a1-related stickler syndrome10.2
13primary bacterial infectious disease10.2
14nasopharyngeal disease10.1
15pneumonia10.1
16respiratory system disease10.1
17hepatitis c virus10.0
18pulmonary disease, chronic obstructive10.0
19hepatitis10.0
20hepatitis b10.0
21spondylosis10.0
22hepatitis c10.0
23hepatitis a10.0
24pneumocystosis10.0
25viral pneumonia10.0
26hepatitis d10.0
27cork-handlers' disease10.0
28colonic disease10.0
29complex regional pain syndrome10.0
30extrinsic allergic alveolitis10.0
31influenza10.0
32middle ear disease10.0
33non-suppurative otitis media10.0
34nose disease10.0
35obstructive lung disease10.0
36physical disorder10.0
37reading disorder10.0
38viral hepatitis10.0
39writing disorder10.0
40familial hypersensitivity pneumonitis10.0
41haemophilus influenzae10.0
42drug rash with eosinophilia and systemic symptoms10.0
43complex regional pain syndrome type 110.0

Graphical network of the top 20 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:

 51 (show all 22)
  • hypoplastic maxillary bones/zygomatic bones/maxillary hypoplasia
  • cataract/lens opacification
  • vitreous anomalies/hyalitis/persistent vitreous vascularisation
  • retinal detachment
  • myopia
  • short/small nose
  • long philtrum
  • dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia
  • autosomal dominant inheritance
  • proptosis/exophthalmos
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • sensorineural deafness/hearing loss
  • platyspondyly
  • epiphyseal vertebral anomaly
  • mitral valve prolapse/incompetence/insufficiency/regurgitation/ring anomaly
  • epiphyseal anomaly
  • articular/joint pain/arthralgia
  • osteoarthritis
  • hyperextensible joints/articular hyperlaxity
  • marfanoid morphotype
  • visual loss/blindness/amblyopia
  • intellectual deficit/mental/psychomotor retardation/learning disability

HPO human phenotypes related to Stickler Syndrome, Type I:

(show all 44)
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 autosomal dominant inheritance HP:0000006
23 cleft palate HP:0000175
24 pierre-robin sequence HP:0000201
25 malar flattening HP:0000272
26 sensorineural hearing impairment HP:0000407
27 anteverted nares HP:0000463
28 glaucoma HP:0000501
29 retinal detachment HP:0000541
30 myopia HP:0000545
31 blindness HP:0000618
32 pectus excavatum HP:0000767
33 platyspondyly HP:0000926
34 arachnodactyly HP:0001166
35 disproportionate tall stature HP:0001519
36 mitral valve prolapse HP:0001634
37 scoliosis HP:0002650
38 spondyloepiphyseal dysplasia HP:0002655
39 kyphosis HP:0002808
40 arthropathy HP:0003040
41 beaking of vertebral bodies HP:0004568
42 depressed nasal bridge HP:0005280
43 irregular femoral epiphysis HP:0006361
44 flat midface HP:0040199

Drugs & Therapeutics for Stickler Syndrome, Type I

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Studies of Heritable Disorders of Connective TissueCompletedNCT00270686
2Study of Heritable Connective Tissue DisordersCompletedNCT00001641
3Study of Skeletal Disorders and Short StatureCompletedNCT00001754
4Rare Disease Patient Registry: 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 124

Anatomical Context for Stickler Syndrome, Type I

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

33
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:

67
id Symbol AA change Variation ID SNP ID
1COL2A1p.Arg904CysVAR_017645
2COL2A1p.Arg565CysVAR_023927
3COL2A1p.Gly240AspVAR_063892
4COL2A1p.Gly270ArgVAR_063893
5COL2A1p.Gly282AspVAR_063894
6COL2A1p.Gly453AlaVAR_063895
7COL2A1p.Gly501ArgVAR_063896
8COL2A1p.Gly1158AlaVAR_063898

Clinvar genetic disease variations for Stickler Syndrome, Type I:

5 (show all 25)
id Gene Variation Type Significance SNP ID Assembly Location
1COL2A1NM_001844.4(COL2A1): c.3357_3358insCT (p.Glu1120Leufs)insertionPathogenicrs672601354GRCh37Chr 12, 48370672: 48370673
2COL2A1NM_001844.4(COL2A1): c.1191_1199dupTCCTGGGTC (p.Gly402_Pro403insSerProGly)duplicationPathogenicrs672601355GRCh37Chr 12, 48381416: 48381424
3COL2A1NM_001844.4(COL2A1): c.85+1G> Csingle nucleotide variantPathogenicrs727503882GRCh37Chr 12, 48398019: 48398019
4COL2A1NM_001844.4(COL2A1): c.2794C> T (p.Arg932Ter)single nucleotide variantPathogenicrs121912866GRCh37Chr 12, 48372481: 48372481
5COL2A1COL2A1, 1-BP DEL, EX40deletionPathogenic
6COL2A1NM_001844.4(COL2A1): c.625C> T (p.Arg209Ter)single nucleotide variantPathogenicrs121912869GRCh37Chr 12, 48389687: 48389687
7COL2A1NM_001844.4(COL2A1): c.3138delT (p.Gly1047Alafs)deletionPathogenicrs121912873GRCh37Chr 12, 48371410: 48371410
8COL2A1NM_001844.4(COL2A1): c.908G> A (p.Gly303Asp)single nucleotide variantPathogenicrs121912877GRCh37Chr 12, 48387608: 48387608
9COL2A1COL2A1, 1-BP DEL, EX50deletionPathogenic
10COL2A1COL2A1, IVS17, A-G, -2single nucleotide variantPathogenic
11COL2A1COL2A1, IVS25DS, G-A, +1single nucleotide variantPathogenic
12COL2A1NM_001844.4(COL2A1): c.1693C> T (p.Arg565Cys)single nucleotide variantPathogenicrs121912884GRCh37Chr 12, 48379358: 48379358
13COL2A1NM_001844.4(COL2A1): c.1999C> T (p.Leu667Phe)single nucleotide variantPathogenicrs121912885GRCh37Chr 12, 48377218: 48377218
14COL2A1NM_001844.4(COL2A1): c.1957C> T (p.Arg653Ter)single nucleotide variantPathogenicrs121912893GRCh37Chr 12, 48377504: 48377504
15COL2A1NM_001844.4(COL2A1): c.762+1G> Asingle nucleotide variantPathogenicrs794727026GRCh37Chr 12, 48389037: 48389037
16COL2A1NM_001844.4(COL2A1): c.1056delC (p.Ala353Glnfs)deletionPathogenicrs794727185GRCh37Chr 12, 48383556: 48383556
17COL2A1NM_001844.4(COL2A1): c.1214delG (p.Gly405Valfs)deletionPathogenicrs794727225GRCh37Chr 12, 48381401: 48381401
18COL2A1NM_001844.4(COL2A1): c.258C> A (p.Cys86Ter)single nucleotide variantPathogenicrs794727261GRCh37Chr 12, 48393736: 48393736
19COL2A1NM_001844.4(COL2A1): c.1420-2A> Csingle nucleotide variantPathogenicrs794727377GRCh37Chr 12, 48380228: 48380228
20COL2A1NM_001844.4(COL2A1): c.1861G> A (p.Gly621Arg)single nucleotide variantLikely pathogenicrs794727462GRCh37Chr 12, 48378355: 48378355
21COL2A1NM_001844.4(COL2A1): c.2428G> T (p.Gly810Cys)single nucleotide variantLikely pathogenicrs794727596GRCh37Chr 12, 48375161: 48375161
22COL2A1NM_001844.4(COL2A1): c.2530C> T (p.Gln844Ter)single nucleotide variantPathogenicrs794727607GRCh37Chr 12, 48374432: 48374432
23COL2A1NM_001844.4(COL2A1): c.3106C> T (p.Arg1036Ter)single nucleotide variantPathogenicrs748459670GRCh37Chr 12, 48371798: 48371798
24COL2A1NM_001844.4(COL2A1): c.3791_3794delACCA (p.Asn1264Argfs)deletionPathogenicrs794727748GRCh37Chr 12, 48369192: 48369195
25COL2A1NM_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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet