Details of Disease

General Information of Disease (ID: DISUVR4V)

Disease Name Joubert syndrome 9
Synonyms Joubert syndrome 9/15, digenic; Joubert syndrome type 9; Joubert syndrome caused by mutation in CC2D2A; Joubert syndrome 9; CC2D2A Joubert syndrome; JBTS9
Definition Any Joubert syndrome in which the cause of the disease is a mutation in the CC2D2A gene.
Disease Hierarchy
DIS7P5CO: Joubert syndrome
DISU0IPO: Joubert syndrome with oculorenal defect
DISUVR4V: Joubert syndrome 9
Disease Identifiers
MONDO ID
MONDO_0012849
MESH ID
C567364
UMLS CUI
C2676788
OMIM ID
612285
MedGen ID
382940

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
CC2D2A OTFGRGFR Definitive Autosomal recessive [1]
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References

1 COACH syndrome: report of two brothers with congenital hepatic fibrosis, cerebellar vermis hypoplasia, oligophrenia, ataxia, and mental retardation. Am J Med Genet. 1996 Aug 23;64(3):514-20. doi: 10.1002/(SICI)1096-8628(19960823)64:3<514::AID-AJMG13>3.0.CO;2-O.