Details of Disease

General Information of Disease (ID: DIS7QNQ3)

• Disease Name: Nephronophthisis 1
• Synonyms: nephronophthisis, familial juvenile; Nph1; nephronophthisis (disease) caused by mutation in NPHP1; nephronophthisis type 1; nephronophthisis 1; juvenile nephronophthisis 1; NPH1; NPHP1 nephronophthisis (disease); NPHP1; familial juvenile nephronophthisis; juvenile nephronophthisis; nephronophthisis 1, juvenile
• Definition: Progressive tubulointerstitial nephritis inherited in an autosomal recessive manner. It is caused by mutations in the NPHP1 gene. Patients present with anemia, polyuria, and polydipsia during childhood. The progressive bilateral kidney damage results in renal failure.
• Disease Hierarchy:
  DIS6SVEE: Syndromic disease
  DISXU4HY: Nephronophthisis
  DIS10G4I: Ciliopathy
  DIS7QNQ3: Nephronophthisis 1
• Disease Identifiers:
  MONDO ID: MONDO_0009728
  MESH ID: C537699
  UMLS CUI: C1855681
  OMIM ID: 256100
  MedGen ID: 343406
  Orphanet ID: 93592
  SNOMED CT ID: 444830001

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 10 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
WDR19	OTP5X5WA	Supportive	Autosomal recessive	[1]
ADAMTS9	OTV3Q0DS	Supportive	Autosomal recessive	[3]
ANKS6	OT6DXD3Q	Supportive	Autosomal recessive	[4]
GLIS2	OTOUUV1X	Supportive	Autosomal recessive	[5]
MAPKBP1	OTMLEJ67	Supportive	Autosomal recessive	[6]
NPHP4	OTBNOA7U	Supportive	Autosomal recessive	[7]
INVS	OT8KPESR	Strong	Genetic Variation	[8]
NXPH1	OTGKX860	Strong	Genetic Variation	[9]
TINAG	OTY7BSD7	Strong	Biomarker	[10]
NPHP1	OTZHCFFQ	Definitive	Autosomal recessive	[11]

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
MLYCD	TT9Z4YD	moderate	Genetic Variation	[2]

References

• [1] Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. Am J Hum Genet. 2011 Nov 11;89(5):634-43. doi: 10.1016/j.ajhg.2011.10.001. Epub 2011 Oct 20.
• [2] Autosomal dominant medullary cystic kidney disease: evidence of gene locus heterogeneity.Nephrol Dial Transplant. 1998 Aug;13(8):1955-7. doi: 10.1093/ndt/13.8.1955.
• [3] Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy. Am J Hum Genet. 2019 Jan 3;104(1):45-54. doi: 10.1016/j.ajhg.2018.11.003.
• [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] Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis. Nat Genet. 2007 Aug;39(8):1018-24. doi: 10.1038/ng2072. Epub 2007 Jul 8.
• [6] Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis. Am J Hum Genet. 2017 Feb 2;100(2):323-333. doi: 10.1016/j.ajhg.2016.12.011. Epub 2017 Jan 12.
• [7] Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.
• [8] A homozygous mutation in INVS causing juvenile nephronophthisis with abnormal reactivity of the Wnt/beta-catenin pathway.Nephrol Dial Transplant. 2010 Dec;25(12):4097-102. doi: 10.1093/ndt/gfq519. Epub 2010 Aug 26.
• [9] Clinical nosologic and genetic aspects of Joubert and related syndromes.J Child Neurol. 1999 Oct;14(10):660-6; discussion 669-72. doi: 10.1177/088307389901401007.
• [10] Molecular cloning, expression, and chromosomal localization of a human tubulointerstitial nephritis antigen.Biochem Biophys Res Commun. 2000 Feb 5;268(1):225-30. doi: 10.1006/bbrc.2000.2103.
• [11] 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.