Details of Disease

General Information of Disease (ID: DISE0CCK)

Disease Name Nephronophthisis 16
Synonyms
infantile nephronophthisis; autosomal recessive infantile nephronophthisis; autosomal recessive infantile NPHP; nephronophthisis type 16; nephronophthisis 16; ANKS6 nephronophthisis (disease); NPHP16; nephronophthisis (disease) caused by mutation in ANKS6
Definition Any nephronophthisis in which the cause of the disease is a mutation in the ANKS6 gene.
Disease Hierarchy
DISXU4HY: Nephronophthisis
DISE0CCK: Nephronophthisis 16
Disease Identifiers
MONDO ID
MONDO_0014158
UMLS CUI
C3809320
OMIM ID
615382
MedGen ID
815650

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
ANKS6 OT6DXD3Q 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.