Stickler syndrome

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Information
Disease name
Stickler syndrome
Disease ID
DOID:0080046
Description
"A syndrome that is characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems." [url:https\://en.wikipedia.org/wiki/Stickler_syndrome, url:https\://ghr.nlm.nih.gov/condition/stickler-syndrome, url:https\://www.ncbi.nlm.nih.gov/books/NBK1302/]
Disease area statistics
Chromosome band
Gene symbol Chromosome Start Stop The number of variant
COL2A1 12 47,972,967 48,004,476 20
COL11A1 1 102,876,473 103,108,522 4
Annotation
Genes Mutation Description Source Links
NCT ID Status Phase Summary Start date Completion date
NCT00270686 Completed Studies of Heritable Disorders of Connective Tissue January 21, 2003 January 2, 2015
NCT04465188 Not yet recruiting Phase 2 Scleral Buckling for Retinal Detachment Prevention in Genetically Confirmed Stickler Syndrome June 2023 January 2030
NCT01793168 Recruiting Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford July 2010 December 2100
Disase is a (Disease Ontology)
DOID:225
Cross Reference ID (Disease Ontology)
GARD:10782
Cross Reference ID (Disease Ontology)
MIM:PS108300
Cross Reference ID (Disease Ontology)
ORDO:828
OMIM Phenotype Series Number (OMIM)
PS108300
OrphaNumber from OrphaNet (Orphanet)
828