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

Summaries for Stickler Syndrome, Type 2

About this section
Sources:
44NIH Rare Diseases, 48OMIM, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
NIH Rare Diseases:44 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:48 604841

Aliases & Classifications for Stickler Syndrome, Type 2

About this section
Sources:
44NIH Rare Diseases, 23GTR, 48OMIM, 50Orphanet, 63UMLS, 37MESH via Orphanet, 27ICD10 via Orphanet, 64UMLS via Orphanet
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

50
stickler syndrome type 2:
Inheritance: Autosomal dominant


Aliases & Descriptions:

stickler syndrome, type 2 44 23
stickler syndrome, type ii 48 63
stickler syndrome, beaded vitreous type 44
stickler syndrome, vitreous type 2 44
stickler syndrome type 2 50
stl 2 44


External Ids:

OMIM48 604841
MESH via Orphanet37 C537493
ICD10 via Orphanet27 Q87.5
UMLS via Orphanet64 C1858084

Related Diseases for Stickler Syndrome, Type 2

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

Graphical network of diseases related to Stickler Syndrome, Type 2:



Diseases related to stickler syndrome, type 2

Symptoms for Stickler Syndrome, Type 2

About this section
Sources:
48OMIM, 50Orphanet
See all sources

Symptoms by clinical synopsis from OMIM:

604841

Clinical features from OMIM:

604841

Symptoms:

50 (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

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Stickler Syndrome, Type 2

Drug clinical trials:

Search ClinicalTrials for Stickler Syndrome, Type 2

Search NIH Clinical Center for Stickler Syndrome, Type 2

Search CenterWatch for Stickler Syndrome, Type 2

Genetic Tests for Stickler Syndrome, Type 2

About this section
Sources:
23GTR
See all sources

Genetic tests related to Stickler Syndrome, Type 2:

id Genetic test Affiliating Genes
1 Stickler Syndrome, Type 223

Anatomical Context for Stickler Syndrome, Type 2

About this section
Sources:
34MalaCards
See all sources

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

34
Eye, Bone

Animal Models for Stickler Syndrome, Type 2 or affiliated genes

About this section
Sources:
38MGI
See all sources

MGI Mouse Phenotypes related to Stickler Syndrome, Type 2:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.1COL11A1, COL11A2
2MP:00053778.8COL11A1, COL11A2

Publications for Stickler Syndrome, Type 2

About this section
Sources:
53PubMed
See all sources

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

About this section
Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
See all sources

UniProtKB/Swiss-Prot genetic disease variations for Stickler Syndrome, Type 2:

65
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

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
51PathCards, 54QIAGEN, 31KEGG, 39NCBI BioSystems Database, 56Reactome
See all sources

Compounds for genes affiliated with Stickler Syndrome, Type 2

About this section

GO Terms for genes affiliated with Stickler Syndrome, Type 2

About this section
Sources:
17Gene Ontology
See all sources

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Stickler Syndrome, Type 2

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet