Details of Disease

General Information of Disease (ID: DIS4CC6R)

• Disease Name: Nephronophthisis 3
• Synonyms: Nph3; nephronophthisis (disease) caused by mutation in NPHP3; NPHP3 nephronophthisis (disease); nephronophthisis type 3; NPH3; nephronophthisis 3; NPHP3
• Definition: Any nephronophthisis in which the cause of the disease is a mutation in the NPHP3 gene.
• Disease Hierarchy:
  DISXU4HY: Nephronophthisis
  DIS4CC6R: Nephronophthisis 3
• Disease Identifiers:
  MONDO ID: MONDO_0011456
  UMLS CUI: C1858392
  OMIM ID: 604387
  MedGen ID: 346809
  SNOMED CT ID: 444749006

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DNAJC13	OTYAVVJ6	moderate	Genetic Variation	[1]
NPHP4	OTBNOA7U	moderate	Biomarker	[2]
NXPH3	OTG82U2K	moderate	Genetic Variation	[1]
IQCB1	OTYQ28V9	Strong	Genetic Variation	[3]
NPHP3	OT8U8ELA	Definitive	Autosomal recessive	[4]

References

• [1] Candidate gene analysis of KIAA0678 encoding a DnaJ-like protein for adolescent nephronophthisis and Senior-Lken syndrome type 3.Cytogenet Genome Res. 2002;97(3-4):163-6. doi: 10.1159/000066617.
• [2] Analysis of the NPHP genes in two Japanese patients with suspected sporadic juvenile or adolescent nephronophthisis.Clin Nephrol. 2006 May;65(5):364-9. doi: 10.5414/cnp65364.
• [3] Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping. J Mol Diagn. 2010 Jan;12(1):125-31. doi: 10.2353/jmoldx.2010.090033. Epub 2009 Dec 10.
• [4] Lethal cystic kidney disease in Amish neonates associated with homozygous nonsense mutation of NPHP3. Am J Kidney Dis. 2009 May;53(5):790-5. doi: 10.1053/j.ajkd.2008.12.026. Epub 2009 Mar 20.