MCID: CL1001
MIFTS: 18

Col11a1-Related Stickler Syndrome malady

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

Aliases & Classifications for Col11a1-Related Stickler Syndrome

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Sources:
22GeneTests, 51Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Col11a1-Related Stickler Syndrome:

Name: Col11a1-Related Stickler Syndrome 22
Stickler Syndrome Type Ii 22
 
Stickler Syndrome Type 2 51

Characteristics:

Orphanet epidemiological data:

51
stickler syndrome type 2:
Inheritance: Autosomal dominant

Classifications:



External Ids:

Orphanet51 90654
ICD10 via Orphanet28 Q87.5
MESH via Orphanet37 C537493
UMLS via Orphanet66 C1858084

Summaries for Col11a1-Related Stickler Syndrome

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MalaCards based summary: Col11a1-Related Stickler Syndrome, also known as stickler syndrome type ii, is related to stickler syndrome, type ii and stickler syndrome, type i, and has symptoms including corneal clouding/opacity/vascularisation, cataract/lens opacification and vitreous anomalies/hyalitis/persistent vitreous vascularisation. An important gene associated with Col11a1-Related Stickler Syndrome is COL11A1 (Collagen Type XI Alpha 1). Affiliated tissues include eye and bone.

Related Diseases for Col11a1-Related Stickler Syndrome

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Symptoms for Col11a1-Related Stickler Syndrome

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Symptoms:

 51 (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

Drugs & Therapeutics for Col11a1-Related Stickler Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Col11a1-Related Stickler Syndrome

Genetic Tests for Col11a1-Related Stickler Syndrome

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Genetic tests related to Col11a1-Related Stickler Syndrome:

id Genetic test Affiliating Genes
1 Col11a1-Related Stickler Syndrome22 COL11A1

Anatomical Context for Col11a1-Related Stickler Syndrome

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MalaCards organs/tissues related to Col11a1-Related Stickler Syndrome:

33
Eye, Bone

Animal Models for Col11a1-Related Stickler Syndrome or affiliated genes

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Publications for Col11a1-Related Stickler Syndrome

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Variations for Col11a1-Related Stickler Syndrome

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Expression for genes affiliated with Col11a1-Related Stickler Syndrome

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Search GEO for disease gene expression data for Col11a1-Related Stickler Syndrome.

Pathways for genes affiliated with Col11a1-Related Stickler Syndrome

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GO Terms for genes affiliated with Col11a1-Related Stickler Syndrome

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Sources for Col11a1-Related Stickler Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet