Details of Disease

General Information of Disease (ID: DIS9M0EA)

Disease Name Nephronophthisis 13
Synonyms NPHP13; nephronophthisis 13; nephronophthisis type 13
Definition A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the WDR19 gene on chromosome 4p14.
Disease Hierarchy
DISXU4HY: Nephronophthisis
DIS9M0EA: Nephronophthisis 13
Disease Identifiers
MONDO ID
MONDO_0013718
UMLS CUI
C3280612
OMIM ID
614377
MedGen ID
482242

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
WDR19 OTP5X5WA Strong Autosomal recessive [1]
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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.