Details of Disease

General Information of Disease (ID: DIS5H9NS)

Disease Name Nephronophthisis-like nephropathy 1
Synonyms nephronophthisis-like nephropathy type 1; nephronophthisis-like nephropathy 1; NPHPL1; NPHP-XPNPEP3; nephronophthisis (disease) caused by mutation in XPNPEP3; XPNPEP3 nephronophthisis (disease)
Definition Any nephronophthisis in which the cause of the disease is a mutation in the XPNPEP3 gene.
Disease Hierarchy
DISXU4HY: Nephronophthisis
DIS5H9NS: Nephronophthisis-like nephropathy 1
Disease Identifiers
MONDO ID
MONDO_0013163
UMLS CUI
C3150419
OMIM ID
613159
MedGen ID
461769

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
XPNPEP3 OTYFT67L Strong Autosomal recessive [1]
------------------------------------------------------------------------------------

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.