MCID: STC013
MIFTS: 40

Stickler Syndrome, Type Ii malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Ear diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Stickler Syndrome, Type Ii

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Sources:
50OMIM, 46NIH Rare Diseases, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Stickler Syndrome, Type Ii:

Name: Stickler Syndrome, Type Ii 50 12
Stickler Syndrome 2 68 25
Stickler Syndrome, Beaded Vitreous Type 46
Stickler Syndrome Beaded Vitreous Type 68
Stickler Syndrome, Vitreous Type 2 46
Stickler Syndrome Vitreous Type 2 68
 
Stickler Syndrome Type Ii 68
Stickler Syndrome, Type 2 46
Stickler Syndrome Type 2 52
Stl 2 46
Stl2 68

Characteristics:

Orphanet epidemiological data:

52
stickler syndrome type 2:
Inheritance: Autosomal dominant

HPO:

62
stickler syndrome, type ii:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 604841
Orphanet52 ORPHA90654
ICD10 via Orphanet29 Q87.5
MESH via Orphanet38 C537493
UMLS via Orphanet67 C1858084
MedGen35 C1858084
MeSH37 D003240

Summaries for Stickler Syndrome, Type Ii

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NIH Rare Diseases:46 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 Ii, also known as stickler syndrome 2, is related to col11a1-related stickler syndrome and stickler syndrome, type i, and has symptoms including sensorineural hearing impairment, cataract and retinal detachment. An important gene associated with Stickler Syndrome, Type Ii is COL11A1 (Collagen Type XI Alpha 1 Chain), and among its related pathways are Focal Adhesion and Degradation of the extracellular matrix. Affiliated tissues include eye, bone and tongue.

UniProtKB/Swiss-Prot:68 Stickler syndrome 2: An autosomal dominant form of Stickler syndrome, an inherited disorder that associates ocular signs with more or less complete forms of Pierre Robin sequence, bone disorders and sensorineural deafness. Ocular disorders may include juvenile cataract, myopia, strabismus, vitreoretinal or chorioretinal degeneration, retinal detachment, and chronic uveitis. Pierre Robin sequence includes an opening in the roof of the mouth (a cleft palate), a large tongue (macroglossia), and a small lower jaw (micrognathia). Bones are affected by slight platyspondylisis and large, often defective epiphyses. Juvenile joint laxity is followed by early signs of arthrosis. The degree of hearing loss varies among affected individuals and may become more severe over time. Syndrome expressivity is variable.

Description from OMIM:50 604841

Related Diseases for Stickler Syndrome, Type Ii

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



Diseases related to stickler syndrome, type ii

Symptoms for Stickler Syndrome, Type Ii

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Symptoms by clinical synopsis from OMIM:

604841

Clinical features from OMIM:

604841

Symptoms:

 52 (show all 8)
  • sensorineural hearing impairment
  • retinopathy
  • cataract
  • retinal detachment
  • myopia
  • abnormality of the vitreous humor
  • corneal opacity
  • cleft palate

HPO human phenotypes related to Stickler Syndrome, Type Ii:

(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 cleft palate HP:0000175
10 bifid uvula HP:0000193
11 pierre-robin sequence HP:0000201
12 malar flattening HP:0000272
13 micrognathia HP:0000347
14 sensorineural hearing impairment HP:0000407
15 anteverted nares HP:0000463
16 glaucoma HP:0000501
17 cataract HP:0000518
18 retinal detachment HP:0000541
19 myopia HP:0000545
20 arachnodactyly HP:0001166
21 joint hypermobility HP:0001382
22 spondyloepiphyseal dysplasia HP:0002655
23 arthropathy HP:0003040
24 abnormality of the vitreous humor HP:0004327
25 depressed nasal bridge HP:0005280
26 obsolete flat midface HP:0040199
27 long fingers HP:0100807

Drugs & Therapeutics for Stickler Syndrome, Type Ii

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Study of Skeletal Disorders and Short StatureCompletedNCT00001754
2Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168

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Genetic Tests for Stickler Syndrome, Type Ii

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Genetic tests related to Stickler Syndrome, Type Ii:

id Genetic test Affiliating Genes
1 Stickler Syndrome, Type 225

Anatomical Context for Stickler Syndrome, Type Ii

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

34
Eye, Bone, Tongue

Animal Models for Stickler Syndrome, Type Ii or affiliated genes

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Publications for Stickler Syndrome, Type Ii

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Variations for Stickler Syndrome, Type Ii

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

68
id Symbol AA change Variation ID SNP ID
1COL11A1p.Gly625ValVAR_013583rs121912943
2COL11A1p.Gly676ArgVAR_013584rs749663226
3COL11A1p.Gly1516ValVAR_013587
4COL11A1p.Gly565ValVAR_063675
5COL11A1p.Gly1027ArgVAR_063676
6COL11A1p.Gly1513AspVAR_063678

Clinvar genetic disease variations for Stickler Syndrome, Type Ii:

5
id Gene Variation 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 Ii

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

Pathways for genes affiliated with Stickler Syndrome, Type Ii

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GO Terms for genes affiliated with Stickler Syndrome, Type Ii

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Cellular components related to Stickler Syndrome, Type Ii according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1collagen trimerGO:00055819.5COL11A1, COL2A1
2proteinaceous extracellular matrixGO:00055789.1COL11A1, COL2A1
3endoplasmic reticulum lumenGO:00057889.1COL11A1, COL2A1
4extracellular matrixGO:00310129.0COL11A1, COL2A1

Biological processes related to Stickler Syndrome, Type Ii according to GeneCards Suite gene sharing:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1proteoglycan metabolic processGO:00060299.7COL11A1, COL2A1
2skeletal system morphogenesisGO:00487059.6COL11A1, COL2A1
3cartilage condensationGO:00015029.5COL11A1, COL2A1
4collagen catabolic processGO:00305749.5COL11A1, COL2A1
5heart morphogenesisGO:00030079.4COL11A1, COL2A1
6cartilage developmentGO:00512169.4COL11A1, COL2A1
7sensory perception of soundGO:00076059.3COL11A1, COL2A1
8collagen fibril organizationGO:00301999.2COL11A1, COL2A1
9inner ear morphogenesisGO:00424729.1COL11A1, COL2A1
10visual perceptionGO:00076019.1COL11A1, COL2A1
11extracellular matrix organizationGO:00301989.0COL11A1, COL2A1
12ossificationGO:00015038.8COL11A1, COL2A1

Sources for Stickler Syndrome, Type Ii

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet