Details of Disease

General Information of Disease (ID: DIS4AZNW)

Disease Name Stickler syndrome type 2
Synonyms
Stickler syndrome, type 2; STL 2; STICKLER syndrome, type II; Stickler syndrome, beaded vitreous type; Stickler syndrome, vitreous type 2; STL2; Stickler syndrome caused by mutation in COL11A1; COL11A1 Stickler syndrome; Stickler syndrome type II
Definition
Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders, and sensorineural deafness (10% of cases). Stickler syndrome type 2 is caused by mutations in the COL11A1 gene (1p21).
Disease Hierarchy
DISQWFHN: Stickler syndrome
DIS4AZNW: Stickler syndrome type 2
Disease Identifiers
MONDO ID
MONDO_0011493
MESH ID
C537493
UMLS CUI
C1858084
OMIM ID
604841
MedGen ID
347615
Orphanet ID
90654
SNOMED CT ID
1010664005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
AMPD2 OTBS30JU moderate Genetic Variation [1]
COL11A2 OT3BQUBH Strong Biomarker [2]
COL11A1 OTB0DRMS Definitive Autosomal dominant [3]
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References

1 Homozygous variants in AMPD2 and COL11A1 lead to a complex phenotype of pontocerebellar hypoplasia type 9 and Stickler syndrome type 2.Am J Med Genet A. 2020 Mar;182(3):557-560. doi: 10.1002/ajmg.a.61452. Epub 2019 Dec 12.
2 Targeted disruption of Col11a2 produces a mild cartilage phenotype in transgenic mice: comparison with the human disorder otospondylomegaepiphyseal dysplasia (OSMED).Dev Dyn. 2001 Oct;222(2):141-52. doi: 10.1002/dvdy.1178.
3 Marshall syndrome: further evidence of a distinct phenotypic entity and report of new findings. Am J Med Genet A. 2014 Oct;164A(10):2601-6. doi: 10.1002/ajmg.a.36681. Epub 2014 Jul 29.