Details of Disease | DrugMAP

General Information of Disease (ID: DISU0IPO)

Disease Name	Joubert syndrome with oculorenal defect
Synonyms	cerebro-oculo-hepato-renal syndrome; chorioretinal coloboma with cerebellar vermis aplasia; coloboma, chorioretinal, with cerebellar vermis aplasia; Joubert syndrome 5; cerebrooculohepatorenal syndrome; Dekaban Arima syndrome; cerebello-oculo-renal syndrome; Joubert syndrome with oculorenal anomalies; Joubert syndrome with bilateral chorioretinal coloboma; Dekaban-Arima syndrome; Joubert syndrome with oculorenal defect; Joubert syndrome with Senior-Loken syndrome; Cerebellooculorenal syndrome; Arima syndrome; JS type B; CORS; JS-OR
Definition	Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with both renal and ocular disease.
Disease Hierarchy	DIS6SVEE: Syndromic disease DISQ1B1S: Disorder of visual system DIS04FVG: Joubert syndrome and related disorders DISOV08L: Central nervous system malformation DISU0IPO: Joubert syndrome with oculorenal defect
Disease Identifiers	MONDO ID MONDO_0009480 MESH ID C537430 UMLS CUI C1855675 OMIM ID 243910 MedGen ID 340930 Orphanet ID 2318 SNOMED CT ID 721862000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 11 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ZNF423	OTU8QKMT	Supportive	Autosomal recessive	[1]
NPHP4	OTBNOA7U	Limited	Genetic Variation	[4]
CC2D2A	OTFGRGFR	Supportive	Autosomal recessive	[5]
CEP290	OTVN52VH	Supportive	Autosomal recessive	[2]
TMEM138	OTNF4CR7	Supportive	Autosomal recessive	[6]
TMEM216	OT1LOKOI	Supportive	Autosomal recessive	[5]
TMEM231	OTF4UYIE	Supportive	Autosomal recessive	[5]
TMEM237	OTQEVL7L	Supportive	Autosomal recessive	[5]
MKKS	OTLF5T11	Strong	Biomarker	[7]
MKS1	OT83W5PB	Strong	Biomarker	[7]
RPGRIP1L	OT6Z069I	Strong	Genetic Variation	[7]
------------------------------------------------------------------------------------


⏷ Show the Full List of 11 DOT(s)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CEP290	TT3XBOV	Supportive	Autosomal recessive	[2]
CEP290	TT3XBOV	Strong	Biomarker	[3]
------------------------------------------------------------------------------------

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	Joubert Syndrome and related disorders. Orphanet J Rare Dis. 2010 Jul 8;5:20. doi: 10.1186/1750-1172-5-20.
3	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.
4	NPHP4 mutation is linked to cerebello-oculo-renal syndrome and male infertility.Clin Genet. 2014 Apr;85(4):371-5. doi: 10.1111/cge.12160. Epub 2013 Apr 26.
5	Joubert Syndrome. 2003 Jul 9 [updated 2017 Jun 29]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.
6	Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. Science. 2012 Feb 24;335(6071):966-9. doi: 10.1126/science.1213506. Epub 2012 Jan 26.
7	The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. Nat Genet. 2007 Jul;39(7):875-81. doi: 10.1038/ng2039. Epub 2007 Jun 10.