Details of Disease | DrugMAP

General Information of Disease (ID: DISC9CNV)

Disease Name	Diabetes insipidus, nephrogenic, autosomal
Synonyms	diabetes insipidus, nephrogenic, type 2; diabetes insipidus, nephrogenic, autosomal; diabetes insipidus, nephrogenic, 2
Disease Hierarchy	DISKNSJK: Nephrogenic diabetes insipidus DISC9CNV: Diabetes insipidus, nephrogenic, autosomal
Disease Identifiers	MONDO ID MONDO_0007451 MESH ID D018500 UMLS CUI C1563706 OMIM ID 125800 MedGen ID 289643

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
AVPR2	TTK8R02	Strong	Biomarker	[1]
PRKCA	TTFJ8Q1	Strong	Biomarker	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AQP2	OTQLBKK6	Strong	Autosomal dominant	[3]
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References

1	A novel mutation in the AVPR2 gene (222delA) associated with X-linked nephrogenic diabetes insipidus in a boy with growth failure.Endocr Pract. 2010 Mar-Apr;16(2):231-6. doi: 10.4158/EP09165.CR.
2	Absence of PKC-alpha attenuates lithium-induced nephrogenic diabetes insipidus.PLoS One. 2014 Jul 9;9(7):e101753. doi: 10.1371/journal.pone.0101753. eCollection 2014.
3	Three families with autosomal dominant nephrogenic diabetes insipidus caused by aquaporin-2 mutations in the C-terminus. Am J Hum Genet. 2001 Oct;69(4):738-48. doi: 10.1086/323643. Epub 2001 Aug 30.