Details of Disease | DrugMAP

General Information of Disease (ID: DIS8G9LN)

Disease Name	Late-onset nephronophthisis
Disease Hierarchy	DISXU4HY: Nephronophthisis DISE5GA0: Inborn disorder of peptide metabolism DIS8G9LN: Late-onset nephronophthisis
Disease Identifiers	MONDO ID MONDO_0019742 UMLS CUI C5681620 MedGen ID 1842314 Orphanet ID 93589

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
XPNPEP3	OTYFT67L	Supportive	Autosomal recessive	[1]
MAPKBP1	OTMLEJ67	Supportive	Autosomal recessive	[2]
NPHP3	OT8U8ELA	Supportive	Autosomal recessive	[3]
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References

1	Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy. J Clin Invest. 2010 Mar;120(3):791-802. doi: 10.1172/JCI40076. Epub 2010 Feb 22.
2	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.
3	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.