Details of Disease

General Information of Disease (ID: DISJ7VDR)

Disease Name Joubert syndrome 15
Synonyms Joubert syndrome 12/15, digenic; Joubert syndrome 9/15, digenic; Joubert syndrome caused by mutation in CEP41; Joubert syndrome type 15; Joubert syndrome 15; CEP41 Joubert syndrome; JBTS15
Definition Any Joubert syndrome in which the cause of the disease is a mutation in the CEP41 gene.
Disease Hierarchy
DISDJVUI: Joubert syndrome with ocular defect
DIS7P5CO: Joubert syndrome
DISJ7VDR: Joubert syndrome 15
Disease Identifiers
MONDO ID
MONDO_0013763
UMLS CUI
C3280897
OMIM ID
614464
MedGen ID
482527

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
CEP41 OTKZTBOX Definitive Autosomal recessive [1]
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References

1 CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. Nat Genet. 2012 Jan 15;44(2):193-9. doi: 10.1038/ng.1078.