Details of Disease | DrugMAP

General Information of Disease (ID: DIS7MV36)

Disease Name	Joubert syndrome 22
Synonyms	Joubert syndrome type 22; Joubert syndrome caused by mutation in PDE6D; PDE6D Joubert syndrome; JBTS22; Joubert syndrome 22
Definition	Any Joubert syndrome in which the cause of the disease is a mutation in the PDE6D gene.
Disease Hierarchy	DIS7P5CO: Joubert syndrome DIS7MV36: Joubert syndrome 22
Disease Identifiers	MONDO ID MONDO_0014297 UMLS CUI C3810278 OMIM ID 615665 MedGen ID 816608

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
PDE6D	OTIFVXWD	Strong	Autosomal recessive	[1]
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References

1	Deletion of PrBP/delta impedes transport of GRK1 and PDE6 catalytic subunits to photoreceptor outer segments. Proc Natl Acad Sci U S A. 2007 May 22;104(21):8857-62. doi: 10.1073/pnas.0701681104. Epub 2007 May 11.