Details of Disease | DrugMAP

General Information of Disease (ID: DIS9LHZ1)

Disease Name	Joubert syndrome 17
Synonyms	Joubert syndrome type 17; CPLANE1 Joubert syndrome; Joubert syndrome caused by mutation in CPLANE1; Joubert syndrome 17; JBTS17
Definition	Any Joubert syndrome in which the cause of the disease is a mutation in the CPLANE1 gene.
Disease Hierarchy	DIS7P5CO: Joubert syndrome DIS9LHZ1: Joubert syndrome 17
Disease Identifiers	MONDO ID MONDO_0013824 UMLS CUI C3553264 OMIM ID 614615 MedGen ID 766178

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 7 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ZNF423	OTU8QKMT	Strong	Autosomal dominant	[1]
PDE6D	OTIFVXWD	Limited	Autosomal recessive	[2]
ARL3	OT3OGOMX	Strong	Autosomal recessive	[3]
AHI1	OT8K2YWY	Definitive	Autosomal recessive	[4]
CEP104	OTOLRJLH	Definitive	Autosomal recessive	[5]
CPLANE1	OTXGGNNB	Definitive	Autosomal recessive	[6]
KIAA0586	OTOZRC1U	Definitive	Autosomal recessive	[7]
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⏷ Show the Full List of 7 DOT(s)

References

1	Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. Cell. 2012 Aug 3;150(3):533-48. doi: 10.1016/j.cell.2012.06.028.
2	A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium. Hum Mutat. 2014 Jan;35(1):137-46. doi: 10.1002/humu.22470.
3	ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition. Am J Hum Genet. 2018 Oct 4;103(4):612-620. doi: 10.1016/j.ajhg.2018.08.015. Epub 2018 Sep 27.
4	AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. Ann Neurol. 2006 Mar;59(3):527-34. doi: 10.1002/ana.20749.
5	Joubert Syndrome in French Canadians and Identification of Mutations in CEP104. Am J Hum Genet. 2015 Nov 5;97(5):744-53. doi: 10.1016/j.ajhg.2015.09.009. Epub 2015 Oct 17.
6	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
7	Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families. Nat Genet. 2015 Nov;47(11):1363-9. doi: 10.1038/ng.3410. Epub 2015 Oct 5.