Details of Disease | DrugMAP

General Information of Disease (ID: DIS7JTG9)

Disease Name	Stickler syndrome, type 5
Synonyms	STICKLER syndrome, type V; STL5; autosomal recessive Stickler syndrome caused by mutation in COL9A2; COL9A2 autosomal recessive Stickler syndrome
Definition	Any autosomal recessive Stickler syndrome in which the cause of the disease is a mutation in the COL9A2 gene.
Disease Hierarchy	DISQWFHN: Stickler syndrome DIS7JTG9: Stickler syndrome, type 5
Disease Identifiers	MONDO ID MONDO_0013666 UMLS CUI C3280342 OMIM ID 614284 MedGen ID 481972

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
COL9A2	OT1ZBDBV	Definitive	Autosomal recessive	[1]
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References

1	A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome. Am J Med Genet A. 2011 Jul;155A(7):1668-72. doi: 10.1002/ajmg.a.34071. Epub 2011 Jun 10.