Stickler Syndrome, Type I (STL1) 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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12diseasecard, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 70UniProtKB/Swiss-Prot
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Aliases & Descriptions for Stickler Syndrome, Type I:

Name: Stickler Syndrome, Type I 52 12 50
Stickler Syndrome Type 1 48 54
Stickler Syndrome 1 70 27
Stl1 48 70
Aom 48 70
Arthro-Ophthalmopathy Hereditary Progressive 70
Arthroophthalmopathy, Hereditary Progressive 48
Stickler Syndrome, Membranous Vitreous Type 48
Stickler Syndrome Membranous Vitreous Type 70
Stickler Syndrome, Vitreous Type 1 48
Stickler Syndrome Vitreous Type 1 70
Stickler Syndrome, Type 1 68
Stickler Syndrome Type I 70


Orphanet epidemiological data:

stickler syndrome type 1:
Inheritance: Autosomal dominant


stickler syndrome, type i:
Inheritance: autosomal dominant inheritance


External Ids:

OMIM52 108300
Orphanet54 ORPHA90653
ICD10 via Orphanet31 Q87.5
MESH via Orphanet40 C537492
MeSH39 D003240

Summaries for Stickler Syndrome, Type I

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OMIM:52 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 Array, Array and Array. 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:48 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:70 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 & Phenotypes for Stickler Syndrome, Type I

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Symptoms by clinical synopsis from OMIM:


Clinical features from OMIM:


Human phenotypes related to Stickler Syndrome, Type I:

 54 64 (show all 37)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypoplasia of the maxilla64 54 Very frequent (99-80%) HP:0000327
2 long philtrum64 54 Very frequent (99-80%) HP:0000343
3 cataract64 54 Very frequent (99-80%) HP:0000518
4 proptosis64 54 Frequent (79-30%) HP:0000520
5 retinal detachment64 54 Very frequent (99-80%) HP:0000541
6 myopia64 54 Very frequent (99-80%) HP:0000545
7 visual loss64 54 Occasional (29-5%) HP:0000572
8 intellectual disability64 54 Occasional (29-5%) HP:0001249
9 mitral valve prolapse64 54 Frequent (79-30%) HP:0001634
10 osteoarthritis64 54 Frequent (79-30%) HP:0002758
11 arthralgia64 54 Frequent (79-30%) HP:0002829
12 short nose64 54 Very frequent (99-80%) HP:0003196
13 abnormality of the vitreous humor64 54 Very frequent (99-80%) HP:0004327
14 abnormality of epiphysis morphology54 Frequent (79-30%)
15 abnormality of vertebral epiphysis morphology64 54 Frequent (79-30%) HP:0100734
16 cleft palate64 54 Frequent (79-30%) HP:0000175
17 sensorineural hearing impairment64 54 Frequent (79-30%) HP:0000407
18 platyspondyly64 54 Frequent (79-30%) HP:0000926
19 skeletal dysplasia64 54 Very frequent (99-80%) HP:0002652
20 joint hyperflexibility64 54 Frequent (79-30%) HP:0005692
21 pierre-robin sequence64 HP:0000201
22 malar flattening64 HP:0000272
23 conductive hearing impairment64 HP:0000405
24 anteverted nares64 HP:0000463
25 glaucoma64 HP:0000501
26 blindness64 HP:0000618
27 pectus excavatum64 HP:0000767
28 arachnodactyly64 HP:0001166
29 disproportionate tall stature64 HP:0001519
30 scoliosis64 HP:0002650
31 spondyloepiphyseal dysplasia64 HP:0002655
32 kyphosis64 HP:0002808
33 arthropathy64 HP:0003040
34 beaking of vertebral bodies64 HP:0004568
35 depressed nasal bridge64 HP:0005280
36 irregular femoral epiphysis64 HP:0006361
37 midface retrusion64 HP:0011800

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

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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 127

Anatomical Context for Stickler Syndrome, Type I

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

Eye, Bone, Tongue

Publications for Stickler Syndrome, Type I

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Articles related to Stickler Syndrome, Type I:

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

Variations for Stickler Syndrome, Type I

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

id Symbol AA change Variation ID SNP ID

Clinvar genetic disease variations for Stickler Syndrome, Type I:

5 (show all 41)
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, EX40deletionPathogenic
4COL2A1NM_ 001844.4(COL2A1): c.625C> T (p.Arg209Ter)SNVPathogenicrs121912869GRCh37Chr 12, 48389687: 48389687
5COL2A1NM_ 001844.4(COL2A1): c.3138delT (p.Gly1047Alafs)deletionPathogenicrs121912873GRCh37Chr 12, 48371410: 48371410
6COL2A1NM_ 001844.4(COL2A1): c.908G> A (p.Gly303Asp)SNVPathogenicrs121912877GRCh37Chr 12, 48387608: 48387608
7COL2A1COL2A1, 1-BP DEL, EX50deletionPathogenic
8COL2A1COL2A1, IVS17, A-G, -2SNVPathogenic
9COL2A1NM_ 001844.4(COL2A1): c.1510G> T (p.Gly504Cys)SNVPathogenicrs121912880GRCh37Chr 12, 48380136: 48380136
10COL2A1COL2A1, IVS25DS, G-A, +1SNVPathogenic
11COL2A1NM_ 001844.4(COL2A1): c.1693C> T (p.Arg565Cys)SNVPathogenic/ Likely pathogenicrs121912884GRCh37Chr 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.1115G> A (p.Gly372Glu)SNVLikely pathogenicrs794727202GRCh37Chr 12, 48383018: 48383018
17COL2A1NM_ 001844.4(COL2A1): c.1214delG (p.Gly405Valfs)deletionPathogenicrs794727225GRCh37Chr 12, 48381401: 48381401
18COL2A1NM_ 001844.4(COL2A1): c.258C> A (p.Cys86Ter)SNVPathogenicrs794727261GRCh37Chr 12, 48393736: 48393736
19COL2A1NM_ 001844.4(COL2A1): c.1358G> C (p.Gly453Ala)SNVPathogenicrs794727339GRCh37Chr 12, 48380868: 48380868
20COL2A1NM_ 001844.4(COL2A1): c.1510G> A (p.Gly504Ser)SNVPathogenicrs121912880GRCh37Chr 12, 48380136: 48380136
21COL2A1NM_ 001844.4(COL2A1): c.1420-2A> CSNVPathogenicrs794727377GRCh37Chr 12, 48380228: 48380228
22COL2A1NM_ 001844.4(COL2A1): c.1799G> T (p.Gly600Val)SNVLikely pathogenicrs794727438GRCh37Chr 12, 48378812: 48378812
23COL2A1NM_ 001844.4(COL2A1): c.1861G> A (p.Gly621Arg)SNVLikely pathogenicrs794727462GRCh37Chr 12, 48378355: 48378355
24COL2A1NM_ 001844.4(COL2A1): c.1924G> T (p.Gly642Ter)SNVPathogenicrs794727472GRCh37Chr 12, 48377887: 48377887
25COL2A1NM_ 001844.4(COL2A1): c.2015G> C (p.Gly672Ala)SNVPathogenicrs794727546GRCh37Chr 12, 48377202: 48377202
26COL2A1NM_ 001844.4(COL2A1): c.2428G> T (p.Gly810Cys)SNVLikely pathogenicrs794727596GRCh37Chr 12, 48375161: 48375161
27COL2A1NM_ 001844.4(COL2A1): c.2530C> T (p.Gln844Ter)SNVPathogenicrs794727607GRCh37Chr 12, 48374432: 48374432
28COL2A1NM_ 001844.4(COL2A1): c.3106C> T (p.Arg1036Ter)SNVPathogenicrs748459670GRCh37Chr 12, 48371798: 48371798
29COL2A1NM_ 001844.4(COL2A1): c.3275G> A (p.Gly1092Asp)SNVLikely pathogenicrs794727684GRCh37Chr 12, 48370937: 48370937
30COL2A1NM_ 001844.4(COL2A1): c.3791_ 3794delACCA (p.Asn1264Argfs)deletionPathogenicrs794727748GRCh37Chr 12, 48369192: 48369195
31COL2A1NM_ 001844.4(COL2A1): c.4447_ 4450delCCGG (p.Pro1483Serfs)deletionPathogenicrs794727761GRCh37Chr 12, 48367204: 48367207
32COL2A1NM_ 001844.4(COL2A1): c.3382G> C (p.Gly1128Arg)SNVPathogenicrs886042612GRCh37Chr 12, 48370648: 48370648
33COL2A1NM_ 001844.4(COL2A1): c.3574C> T (p.Arg1192Ter)SNVPathogenicrs886042651GRCh37Chr 12, 48369769: 48369769
34COL2A1NM_ 001844.4(COL2A1): c.3311G> A (p.Gly1104Glu)SNVLikely pathogenicrs886043356GRCh37Chr 12, 48370901: 48370901
35COL2A1NM_ 001844.4(COL2A1): c.2353C> T (p.Arg785Ter)SNVPathogenicrs886043410GRCh37Chr 12, 48375892: 48375892
36COL2A1NM_ 001844.4(COL2A1): c.1071delT (p.Pro358Leufs)deletionPathogenicrs886043797GRCh37Chr 12, 48383062: 48383062
37COL2A1NM_ 001844.4(COL2A1): c.714dupC (p.Met239Hisfs)duplicationPathogenicrs886043934GRCh37Chr 12, 48389086: 48389086
38COL2A1NM_ 001844.4(COL2A1): c.2382delT (p.Gly795Alafs)deletionPathogenicrs886044151GRCh37Chr 12, 48375586: 48375586
39COL2A1NM_ 001844.4(COL2A1): c.297delA (p.Gln99Hisfs)deletionPathogenicrs886044245GRCh37Chr 12, 48392210: 48392210
40COL2A1NM_ 001844.4(COL2A1): c.2465delG (p.Gly822Valfs)deletionPathogenicrs886044292GRCh37Chr 12, 48374750: 48374750
41COL2A1NM_ 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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31ICD10 via Orphanet
40MESH via Orphanet
53OMIM via Orphanet
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
69UMLS via Orphanet