STL 2
MCID: STC006
MIFTS: 41

Stickler Syndrome, Type 2 (STL 2) malady

Genetic diseases, Rare diseases, Eye diseases, Ear diseases, Bone diseases, Fetal diseases categories
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Summaries for Stickler Syndrome, Type 2

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43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Stickler syndrome is a group of hereditary connective tissue disorders characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. these signs and symptoms vary widely among affected individuals. there are two subgroups of stickler syndrome type i. one that is sometimes called the membranous vitreous type and another, which is solely or predominantly ocular. both are caused by mutations in the  col2a1 gene. stickler syndrome type ii, sometimes called the beaded vitreous type, is caused by mutation in the col11a1 gene. stickler syndrome type iii, sometimes called the nonocular form, is caused by mutation in the col11a2 gene. these forms of stickler syndrome follow an autosomal dominant pattern of inheritance. stickler syndrome type iv is caused by mutation in the col9a1 gene. stickler syndrome type v is caused by mutation in the col9a2 gene. these types of stickler syndrome are inherited in an autosomal recessive manner. last updated: 2/8/2012

MalaCards: Stickler Syndrome, Type 2, also known as stickler syndrome, type ii, is related to stickler syndrome and stickler syndrome type 1, and has symptoms including cleft palate without cleft lip/submucosal cleft palate/bifid uvula, retinopathy and sensorineural deafness/hearing loss. An important gene associated with Stickler Syndrome, Type 2 is COL11A1 (collagen, type XI, alpha 1), and among its related pathways are Phospholipase-C Pathway and Integrin Pathway. Affiliated tissues include eye and bone, and related mouse phenotypes are craniofacial and hearing/vestibular/ear.

Description from OMIM:47 604841

Aliases & Classifications for Stickler Syndrome, Type 2

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43NIH Rare Diseases, 22GTR, 47OMIM, 49Orphanet, 62UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
stickler syndrome type 2:
Inheritance: Autosomal dominant


Aliases & Descriptions:

stickler syndrome, type 2 43 22
stickler syndrome, type ii 47 62
stickler syndrome, beaded vitreous type 43
stickler syndrome, vitreous type 2 43
stickler syndrome type 2 49
stl 2 43


External Ids:

OMIM47 604841
MESH via Orphanet36 C537493
ICD10 via Orphanet26 Q87.5
UMLS via Orphanet63 C1858084

Related Diseases for Stickler Syndrome, Type 2

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Stickler Syndrome, Type 2:



Diseases related to stickler syndrome, type 2

Symptoms for Stickler Syndrome, Type 2

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

604841

Clinical features from OMIM:

604841

Symptoms:

49 (show all 8)
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • retinopathy
  • sensorineural deafness/hearing loss
  • myopia
  • retinal detachment
  • vitreous anomalies/hyalitis/persistent vitreous vascularisation
  • cataract/lens opacification
  • corneal clouding/opacity/vascularisation

Drugs & Therapeutics for Stickler Syndrome, Type 2

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Stickler Syndrome, Type 2

Search NIH Clinical Center for Stickler Syndrome, Type 2

Genetic Tests for Stickler Syndrome, Type 2

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22GTR
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Genetic tests related to Stickler Syndrome, Type 2:

id Genetic test Affiliating Genes
1 Stickler Syndrome, Type 222

Anatomical Context for Stickler Syndrome, Type 2

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33MalaCards
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MalaCards organs/tissues related to Stickler Syndrome, Type 2:

33
Eye, Bone

Animal Models for Stickler Syndrome, Type 2 or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Stickler Syndrome, Type 2:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.1COL11A1, COL11A2
2MP:00053778.8COL11A1, COL11A2

Publications for Stickler Syndrome, Type 2

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52PubMed
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Articles related to Stickler Syndrome, Type 2:

idTitleAuthorsYear
1
Stickler syndrome type 2 and linkage to the COL11A1 gene. (8702171)
1996
2
A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha- 1(XI) collagen. (8872475)
1996

Variations for Stickler Syndrome, Type 2

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Stickler Syndrome, Type 2:

64
id Symbol AA change Variation ID SNP ID
1COL11A1p.Gly625ValVAR_013583
2COL11A1p.Gly676ArgVAR_013584
3COL11A1p.Gly1516ValVAR_013587
4COL11A1p.Gly565ValVAR_063675
5COL11A1p.Gly1027ArgVAR_063676
6COL11A1p.Gly1513AspVAR_063678

Clinvar genetic disease variations for Stickler Syndrome, Type 2:

1
id Gene Name Type Significance SNP ID Assembly Location
1COL11A1NM_080629.2(COL11A1): c.1910G> T (p.Gly637Val)single nucleotide variantPathogenicrs121912943GRCh37Chr 1, 103470189: 103470189
2COL11A1COL11A1, 54-BP EX DEL, AS, AG-TGdeletionPathogenic

Expression for genes affiliated with Stickler Syndrome, Type 2

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Stickler Syndrome, Type 2

Search GEO for disease gene expression data for Stickler Syndrome, Type 2.

Pathways for genes affiliated with Stickler Syndrome, Type 2

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50PathCards, 53QIAGEN, 30KEGG, 38NCBI BioSystems Database, 55Reactome
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Compounds for genes affiliated with Stickler Syndrome, Type 2

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GO Terms for genes affiliated with Stickler Syndrome, Type 2

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16Gene Ontology
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Cellular components related to Stickler Syndrome, Type 2 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum lumenGO:0057889.1COL11A1, COL11A2
2collagen type XIGO:0055928.8COL11A1, COL11A2

Biological processes related to Stickler Syndrome, Type 2 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1collagen fibril organizationGO:0301999.2COL11A1, COL11A2
2collagen catabolic processGO:0305749.1COL11A1, COL11A2
3extracellular matrix organizationGO:0301989.1COL11A1, COL11A2
4extracellular matrix disassemblyGO:0226179.0COL11A2, COL11A1
5sensory perception of soundGO:0076058.8COL11A1, COL11A2

Molecular functions related to Stickler Syndrome, Type 2 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein binding, bridgingGO:0306749.1COL11A1, COL11A2

Products for genes affiliated with Stickler Syndrome, Type 2

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  • Antibodies
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  • Antibodies

Sources for Stickler Syndrome, Type 2

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet