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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49OMIM, 11diseasecard, 47Novoseek, 45NIH Rare Diseases, 51Orphanet, 67UniProtKB/Swiss-Prot, 24GTR, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 34MedGen, 36MeSH, 61The Human Phenotype Ontology
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Aliases & Descriptions for Stickler Syndrome, Type I:

Name: Stickler Syndrome, Type I 49 11 47
Stickler Syndrome Type 1 45 51
Stickler Syndrome 1 67 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 1 65
Stickler Syndrome Type I 67


Orphanet epidemiological data:

stickler syndrome type 1:
Inheritance: Autosomal dominant


stickler syndrome, type i:
Inheritance: autosomal dominant inheritance


External Ids:

OMIM49 108300
Orphanet51 90653
ICD10 via Orphanet28 Q87.5
MESH via Orphanet37 C537492
MeSH36 D003240
UMLS65 C2020284

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 stickler syndrome col2a1 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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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:


Clinical features from OMIM:



 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 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 cataract occasional (7.5%) HP:0000518
19 conductive hearing impairment occasional (7.5%) HP:0000405
20 visual impairment occasional (7.5%) HP:0000505
21 cognitive impairment occasional (7.5%) HP:0100543
22 obsolete flat midface HP:0040199
23 irregular femoral epiphysis HP:0006361
24 depressed nasal bridge HP:0005280
25 beaking of vertebral bodies HP:0004568
26 arthropathy HP:0003040
27 kyphosis HP:0002808
28 spondyloepiphyseal dysplasia HP:0002655
29 scoliosis HP:0002650
30 mitral valve prolapse HP:0001634
31 disproportionate tall stature HP:0001519
32 arachnodactyly HP:0001166
33 platyspondyly HP:0000926
34 pectus excavatum HP:0000767
35 blindness HP:0000618
36 myopia HP:0000545
37 retinal detachment HP:0000541
38 glaucoma HP:0000501
39 anteverted nares HP:0000463
40 sensorineural hearing impairment HP:0000407
41 malar flattening HP:0000272
42 pierre-robin sequence HP:0000201
43 cleft palate HP:0000175

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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Anatomical Context for Stickler Syndrome, Type I

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

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:

Altered orientation of spatial attention in depersonalization disorder. (24594203)
Conformational Closure of the Catalytic Site of Human CD38 Induced by Calcium. (19117080)
Detection of N-myc gene amplification by fluorescence in situ hybridization. Diagnostic utility for neuroblastoma. (7684192)

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 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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28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet