Details of Disease

Disease Name

Joubert syndrome 1

Joubert syndrome; Cerebellooculorenal syndrome 1; cerebelloparenchymal disorder 4; Joubert-Boltshauser syndrome; Joubert syndrome 1; Joubert syndrome type 1; CORS1; Joubert syndrome caused by mutation in INPP5E; INPP5E Joubert syndrome; cerebellooculorenal syndrome 1; JBTS1; CPD4

Definition

Any Joubert syndrome in which the cause of the disease is a mutation in the INPP5E gene.

Disease Hierarchy

DIS7P5CO: Joubert syndrome

DISC9Q82: Joubert syndrome 1

Disease Identifiers

MONDO ID

MONDO_0008944

MESH ID

C536293

UMLS CUI

C4551568

OMIM ID

213300

MedGen ID

1644883

General Information of Disease (ID: DISC9Q82)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 19 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CSPP1	OTNX7GD4	Limited	GermlineCausalMutation	[1]
AHI1	OT8K2YWY	Strong	GermlineCausalMutation	[2]
ARL13B	OT9PYPV1	Strong	GermlineCausalMutation	[3]
ARL3	OT3OGOMX	Strong	GermlineCausalMutation	[4]
ARMC9	OT0MZER2	Strong	GermlineCausalMutation	[5]
B9D1	OTWTXO75	Strong	GermlineCausalMutation	[6]
CEP104	OTOLRJLH	Strong	GermlineCausalMutation	[7]
CEP120	OT1ZMRHL	Strong	Biomarker	[8]
CEP41	OTKZTBOX	Strong	GermlineCausalMutation	[9]
CPLANE1	OTXGGNNB	Strong	GermlineCausalMutation	[10]
HYLS1	OT3SW5UC	Strong	GermlineCausalMutation	[11]
KIAA0586	OTOZRC1U	Strong	GermlineCausalMutation	[12]
MKS1	OT83W5PB	Strong	GermlineCausalMutation	[6]
PIBF1	OTCBT1A1	Strong	GermlineCausalMutation	[13]
TCTN1	OTG5KEV8	Strong	GermlineCausalMutation	[14]
TMEM237	OTQEVL7L	Strong	GermlineCausalMutation	[2]
TMEM67	OTME92T5	Strong	GermlineCausalMutation	[15]
INPP5E	OTJF2AZ9	Definitive	Autosomal recessive	[16]
TCTN2	OTKR3I3L	Definitive	GermlineCausalMutation	[17]
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⏷ Show the Full List of 19 DOT(s)

References

1	Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans.Am J Hum Genet. 2014 Jan 2;94(1):73-9. doi: 10.1016/j.ajhg.2013.11.010. Epub 2013 Dec 19.
2	Molecular characterization of Joubert syndrome in Saudi Arabia. Hum Mutat. 2012 Oct;33(10):1423-8. doi: 10.1002/humu.22134. Epub 2012 Jul 11.
3	Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. Am J Hum Genet. 2008 Aug;83(2):170-9. doi: 10.1016/j.ajhg.2008.06.023.
4	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.
5	Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish. Am J Hum Genet. 2017 Jul 6;101(1):23-36. doi: 10.1016/j.ajhg.2017.05.010. Epub 2017 Jun 15.
6	Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome. Orphanet J Rare Dis. 2014 May 5;9:72. doi: 10.1186/1750-1172-9-72.
7	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.
8	Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes. J Med Genet. 2016 Sep;53(9):608-15. doi: 10.1136/jmedgenet-2016-103832. Epub 2016 May 6.
9	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.
10	Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population. Am J Hum Genet. 2012 Apr 6;90(4):693-700. doi: 10.1016/j.ajhg.2012.02.011. Epub 2012 Mar 15.
11	A novel HYLS1 homozygous mutation in living siblings with Joubert syndrome. Clin Genet. 2016 Jun;89(6):739-43. doi: 10.1111/cge.12752. Epub 2016 Mar 4.
12	KIAA0586 is Mutated in Joubert Syndrome. Hum Mutat. 2015 Sep;36(9):831-5. doi: 10.1002/humu.22821. Epub 2015 Jul 2.
13	An siRNA-based functional genomics screen for the?identification of regulators of ciliogenesis and ciliopathy?genes. Nat Cell Biol. 2015 Aug;17(8):1074-1087. doi: 10.1038/ncb3201. Epub 2015 Jul 13.
14	A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition. Nat Genet. 2011 Jul 3;43(8):776-84. doi: 10.1038/ng.891.
15	The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. Am J Hum Genet. 2007 Jan;80(1):186-94. doi: 10.1086/510499. Epub 2006 Nov 15.
16	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.
17	Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. Cell. 2011 May 13;145(4):513-28. doi: 10.1016/j.cell.2011.04.019.