Details of Disease | DrugMAP

General Information of Disease (ID: DIS5Y5KV)

Disease Name	Nephronophthisis 2
Synonyms	Nph2; nephronophthisis 2, infantile; INVS nephronophthisis (disease); infantile nephronophthisis 2; NPH2; NPHP2; nephronophthisis type 2; nephronophthisis (disease) caused by mutation in INVS; nephronophthisis 2
Definition	Any nephronophthisis in which the cause of the disease is a mutation in the INVS gene.
Disease Hierarchy	DISXU4HY: Nephronophthisis DIS5Y5KV: Nephronophthisis 2
Disease Identifiers	MONDO ID MONDO_0011190 UMLS CUI C1865872 OMIM ID 602088 MedGen ID 355574 Orphanet ID 93591 SNOMED CT ID 444558002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 10 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ZNF423	OTU8QKMT	Supportive	Autosomal recessive	[1]
ANKS6	OT6DXD3Q	Supportive	Autosomal recessive	[4]
CEP83	OTNJGQ11	Supportive	Autosomal recessive	[5]
NEK8	OT8AD4JC	Supportive	Autosomal recessive	[2]
NPHP3	OT8U8ELA	Supportive	Autosomal recessive	[6]
TTC21B	OTXXA87U	Supportive	Autosomal recessive	[7]
NEDD4L	OT1B19RU	Strong	Biomarker	[3]
NPHP1	OTZHCFFQ	Strong	Genetic Variation	[8]
NPHP4	OTBNOA7U	Strong	Genetic Variation	[8]
INVS	OT8KPESR	Definitive	Autosomal recessive	[9]
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⏷ Show the Full List of 10 DOT(s)

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
NEK8	TT8AH9I	Supportive	Autosomal recessive	[2]
CRTC2	TTFWETR	Strong	Altered Expression	[3]
NEK8	TT8AH9I	Definitive	GermlineCausalMutation	[2]
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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	NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis. J Am Soc Nephrol. 2008 Mar;19(3):587-92. doi: 10.1681/ASN.2007040490. Epub 2008 Jan 16.
3	Loss of inversin decreases transepithelial sodium transport in murine renal cells.Am J Physiol Cell Physiol. 2017 Dec 1;313(6):C664-C673. doi: 10.1152/ajpcell.00359.2016. Epub 2017 Oct 4.
4	ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3. Nat Genet. 2013 Aug;45(8):951-6. doi: 10.1038/ng.2681. Epub 2013 Jun 23.
5	Mutations of CEP83 cause infantile nephronophthisis and intellectual disability. Am J Hum Genet. 2014 Jun 5;94(6):905-14. doi: 10.1016/j.ajhg.2014.05.002. Epub 2014 May 29.
6	High mutation rate of NPHP3 in 18 Chinese infantile nephronophthisis patients. Nephrology (Carlton). 2016 Mar;21(3):209-16. doi: 10.1111/nep.12563.
7	TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat Genet. 2011 Mar;43(3):189-96. doi: 10.1038/ng.756. Epub 2011 Jan 23.
8	Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination. Nat Genet. 2003 Aug;34(4):413-20. doi: 10.1038/ng1217.
9	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.