Details of Disease | DrugMAP

General Information of Disease (ID: DIS3KWP6)

Disease Name	Joubert syndrome 5
Synonyms	Joubert syndrome 5; CEP290 Joubert syndrome; Joubert syndrome type 5; Joubert syndrome caused by mutation in CEP290; JBTS5
Definition	Any Joubert syndrome in which the cause of the disease is a mutation in the CEP290 gene.
Disease Hierarchy	DISUS6C6: CEP290-related ciliopathy DIS7P5CO: Joubert syndrome DISU0IPO: Joubert syndrome with oculorenal defect DIS3KWP6: Joubert syndrome 5
Disease Identifiers	MONDO ID MONDO_0012432 UMLS CUI C1857780 OMIM ID 610188 MedGen ID 347545

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CEP290	TT3XBOV	Definitive	Autosomal recessive	[1]
CEP290	TT3XBOV	Definitive	Genetic Variation	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CEP290	OTVN52VH	Definitive	Autosomal recessive	[1]
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References

1	CEP290, a gene with many faces: mutation overview and presentation of CEP290base. Hum Mutat. 2010 Oct;31(10):1097-108. doi: 10.1002/humu.21337.
2	Targeted exon skipping rescues ciliary protein composition defects in Joubert syndrome patient fibroblasts.Sci Rep. 2019 Jul 25;9(1):10828. doi: 10.1038/s41598-019-47243-z.