Details of Disease

General Information of Disease (ID: DIS422XX)

Disease Name Nephronophthisis 9
Synonyms nephronophthisis 9; nephronophthisis type 9; NPHP9; NEK8 nephronophthisis (disease); nephronophthisis (disease) caused by mutation in NEK8
Definition Any nephronophthisis in which the cause of the disease is a mutation in the NEK8 gene.
Disease Hierarchy
DISXU4HY: Nephronophthisis
DIS422XX: Nephronophthisis 9
Disease Identifiers
MONDO ID
MONDO_0013444
UMLS CUI
C3151188
OMIM ID
613824
MedGen ID
462538

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
NEK8 TT8AH9I Limited Biomarker [1]
NEK8 TT8AH9I Strong Autosomal recessive [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
NEK8 OT8AD4JC Strong Autosomal recessive [2]
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References

1 Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel.J Med Genet. 2016 May;53(5):338-47. doi: 10.1136/jmedgenet-2015-103469. Epub 2016 Feb 9.
2 Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression. Hum Mol Genet. 2013 Jun 1;22(11):2177-85. doi: 10.1093/hmg/ddt070. Epub 2013 Feb 14.