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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NIH Rare Diseases:42 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

MalaCards based summary: 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 corneal clouding/opacity/vascularisation, cataract/lens opacification and vitreous anomalies/hyalitis/persistent vitreous vascularisation. 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:46 604841

Aliases & Classifications for Stickler Syndrome, Type 2

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Sources:
42NIH Rare Diseases, 22GTR, 46OMIM, 62UMLS, 48Orphanet, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Stickler Syndrome, Type 2, Aliases & Descriptions:

Name: Stickler Syndrome, Type 2 42 22
Stickler Syndrome, Type Ii 46 62
Stickler Syndrome, Beaded Vitreous Type 42
 
Stickler Syndrome, Vitreous Type 2 42
Stickler Syndrome Type 2 48
Stl 2 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
stickler syndrome type 2:
Inheritance: Autosomal dominant


External Ids:

OMIM46 604841
MESH via Orphanet35 C537493
ICD10 via Orphanet26 Q87.5
UMLS via Orphanet63 C1858084

Related Diseases for Stickler Syndrome, Type 2

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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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Symptoms by clinical synopsis from OMIM:

604841

Clinical features from OMIM:

604841

Symptoms:

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

HPO human phenotypes related to Stickler Syndrome, Type 2:

(show all 27)
id Description Frequency HPO Source Accession
1 sensorineural hearing impairment hallmark (90%) HP:0000407
2 cataract hallmark (90%) HP:0000518
3 retinal detachment hallmark (90%) HP:0000541
4 myopia hallmark (90%) HP:0000545
5 abnormality of the vitreous humor hallmark (90%) HP:0004327
6 opacification of the corneal stroma hallmark (90%) HP:0007759
7 cleft palate typical (50%) HP:0000175
8 retinopathy typical (50%) HP:0000488
9 autosomal dominant inheritance HP:0000006
10 cleft palate HP:0000175
11 bifid uvula HP:0000193
12 pierre-robin sequence HP:0000201
13 malar flattening HP:0000272
14 micrognathia HP:0000347
15 sensorineural hearing impairment HP:0000407
16 anteverted nares HP:0000463
17 glaucoma HP:0000501
18 cataract HP:0000518
19 retinal detachment HP:0000541
20 myopia HP:0000545
21 arachnodactyly HP:0001166
22 joint hypermobility HP:0001382
23 spondyloepiphyseal dysplasia HP:0002655
24 arthropathy HP:0003040
25 abnormality of the vitreous humor HP:0004327
26 depressed nasal bridge HP:0005280
27 long fingers HP:0100807

Drugs & Therapeutics for Stickler Syndrome, Type 2

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

32
Eye, Bone

Animal Models for Stickler Syndrome, Type 2 or affiliated genes

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MGI Mouse Phenotypes related to Stickler Syndrome, Type 2:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.1COL11A1, COL11A2
2MP:00053778.8COL11A1, COL11A2

Publications for Stickler Syndrome, Type 2

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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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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:

6
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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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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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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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
  • Proteins
  • Lysates

Sources for Stickler Syndrome, Type 2

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet