Details of Disease

General Information of Disease (ID: DISGMI32)

Disease Name Stickler syndrome, type 4
Synonyms STICKLER syndrome, type IV; STL4; COL9A1 autosomal recessive Stickler syndrome; autosomal recessive Stickler syndrome caused by mutation in COL9A1
Definition Any autosomal recessive Stickler syndrome in which the cause of the disease is a mutation in the COL9A1 gene.
Disease Hierarchy
DISQWFHN: Stickler syndrome
DISGMI32: Stickler syndrome, type 4
Disease Identifiers
MONDO ID
MONDO_0013590
UMLS CUI
C3279941
OMIM ID
614134
MedGen ID
481571

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
COL9A1 OTWBR27Y Definitive Autosomal recessive [1]
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References

1 A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene. Am J Hum Genet. 2006 Sep;79(3):449-57. doi: 10.1086/506478. Epub 2006 Jun 26.