MCID: STC015
MIFTS: 34

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:
45OMIM, 10diseasecard, 43Novoseek, 60UMLS, 41NIH Rare Diseases, 47Orphanet, 22GTR, 34MESH via Orphanet, 26ICD10 via Orphanet
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Stickler Syndrome, Type I, Aliases & Descriptions:

Name: Stickler Syndrome, Type I 45 10 43
Stickler Syndrome Type 1 41 47 22
Arthroophthalmopathy, Hereditary Progressive 41
Stickler Syndrome, Membranous Vitreous Type 41
 
Stickler Syndrome, Vitreous Type 1 41
Stickler Syndrome 60
Stl1 41
Aom 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
stickler syndrome type 1:
Inheritance: Autosomal dominant


External Ids:

OMIM45 108300
Orphanet47 90653
MESH via Orphanet34 C537492
ICD10 via Orphanet26 Q87.5

Summaries for Stickler Syndrome, Type I

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OMIM:45 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 and bone.

NIH Rare Diseases:41 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

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:

 47 (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 the vertebral epiphyses 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 epiphyses HP:0006361
44 abnormality of femoral epiphyses HP:0006499

Drugs & Therapeutics for Stickler Syndrome, Type I

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Drug clinical trials:

Search ClinicalTrials for Stickler Syndrome, Type I

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 122

Anatomical Context for Stickler Syndrome, Type I

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

31
Eye, Bone

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:

62
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:

6
id Gene Variation Type Significance SNP ID Assembly Location
1COL2A1NM_001844.4(COL2A1): c.2794C> T (p.Arg932Ter)single nucleotide variantPathogenicrs121912866GRCh37Chr 12, 48372481: 48372481
2COL2A1COL2A1, 1-BP DEL, EX40deletionPathogenic
3COL2A1NM_001844.4(COL2A1): c.625C> T (p.Arg209Ter)single nucleotide variantPathogenicrs121912869GRCh37Chr 12, 48389687: 48389687
4COL2A1NM_001844.4(COL2A1): c.3138delT (p.Gly1047Alafs)deletionPathogenicrs121912873GRCh37Chr 12, 48371410: 48371410
5COL2A1COL2A1, 1-BP DEL, EX50deletionPathogenic
6COL2A1COL2A1, IVS17, A-G, -2single nucleotide variantPathogenic
7COL2A1COL2A1, IVS25DS, G-A, +1single nucleotide variantPathogenic
8COL2A1NM_001844.4(COL2A1): c.1693C> T (p.Arg565Cys)single nucleotide variantPathogenicrs121912884GRCh37Chr 12, 48379358: 48379358
9COL2A1NM_001844.4(COL2A1): c.1957C> T (p.Arg653Ter)single nucleotide variantPathogenicrs121912893GRCh37Chr 12, 48377504: 48377504

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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Compounds 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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Products for genes affiliated with Stickler Syndrome, Type I

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Stickler Syndrome, Type I

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet