STL 2
MCID: STC006
MIFTS: 40

Stickler Syndrome, Type 2 (STL 2) malady

Eye diseases, Ear diseases, Bone diseases, Fetal diseases categories

Summaries for Stickler Syndrome, Type 2

About this section
Sources:
42NIH Rare Diseases, 46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
NIH Rare Diseases:42 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 PI3K-Akt signaling pathway and PTEN Pathway. Affiliated tissues include eye and bone, and related mouse phenotype hearing/vestibular/ear.

Description from OMIM:46 604841

Aliases & Classifications for Stickler Syndrome, Type 2

About this section
Sources:
42NIH Rare Diseases, 22GTR, 46OMIM, 60UMLS, 48Orphanet, 35MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Eye diseases, Ear diseases, Bone diseases


Characteristics (Orphanet epidemiological data):

48
stickler syndrome type 2:
Inheritance: Autosomal dominant


Aliases & Descriptions:

stickler syndrome, type 2 42 22
stickler syndrome, type ii 46 60
stickler syndrome, beaded vitreous type 42
stickler syndrome, vitreous type 2 42
stickler syndrome type 2 48
stl 2 42


External Ids:

OMIM46 604841
MESH via Orphanet35 C537493
ICD10 via Orphanet26 Q87.5
UMLS via Orphanet61 C1858084

Related Diseases for Stickler Syndrome, Type 2

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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



Diseases related to stickler syndrome, type 2

Clinical Features for Stickler Syndrome, Type 2

About this section
Sources:
46OMIM, 48Orphanet
See all sources

Clinical features from OMIM:

604841

Clinical synopsis from OMIM:

604841

Symptoms:

48 (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:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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:
22GTR
See all sources

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

About this section
Sources:
32MalaCards
See all sources

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

32
Eye, Bone

Animal Models for Stickler Syndrome, Type 2 or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Stickler Syndrome, Type 2:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.1COL11A2, COL11A1

Publications for Stickler Syndrome, Type 2

About this section

Genetic Variations for Stickler Syndrome, Type 2

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Stickler Syndrome, Type 2:

62
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

Expression for genes affiliated with Stickler Syndrome, Type 2

About this section
Sources:
1BioGPS, 15Gene 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:
29KEGG, 51QIAGEN, 37NCBI BioSystems Database, 53Reactome
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:
16Gene Ontology
See all sources

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

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

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:0301989.1COL11A2, COL11A1
4extracellular matrix disassemblyGO:0226179.0COL11A2, COL11A1
5sensory perception of soundGO:0076058.8COL11A2, COL11A1

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

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

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
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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet