Details of Disease

General Information of Disease (ID: DISEMDTR)

Disease Name Nephronophthisis 4
Synonyms nephronophthisis 4, juvenile; nephronophthisis (disease) caused by mutation in NPHP4; nephronophthisis type 4; juvenile nephronophthisis 4; nephronophthisis 4; NPHP4 nephronophthisis (disease); NPHP4
Definition Any nephronophthisis in which the cause of the disease is a mutation in the NPHP4 gene.
Disease Hierarchy
DISXU4HY: Nephronophthisis
DISEMDTR: Nephronophthisis 4
Disease Identifiers
MONDO ID
MONDO_0011752
MESH ID
C564640
UMLS CUI
C1847013
OMIM ID
606966
MedGen ID
339667

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
NPHP4 OTBNOA7U Definitive Autosomal recessive [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.