Details of Disease

General Information of Disease (ID: DISC9Q82)

Disease Name Joubert syndrome 1
Synonyms
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

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.