Details of Disease

General Information of Disease (ID: DISHUTO5)

Disease Name Diabetes insipidus, nephrogenic, X-linked
Synonyms Ndi; diabetes insipidus, nephrogenic, type 1; diabetes insipidus, nephrogenic, X-linked; diabetes insipidus, nephrogenic, 1, X-linked recessive
Disease Hierarchy
DIS3PN9X: X-linked disease
DISKNSJK: Nephrogenic diabetes insipidus
DISHUTO5: Diabetes insipidus, nephrogenic, X-linked
Disease Identifiers
MONDO ID
MONDO_0010581
MESH ID
D018500
UMLS CUI
C1563705
OMIM ID
304800
MedGen ID
288785

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
AVP TTJ8EWH Limited Genetic Variation [1]
PRKCA TTFJ8Q1 Strong Biomarker [2]
SCT TTOBVIN Strong Biomarker [3]
AVPR2 TTK8R02 Definitive X-linked [4]
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This Disease Is Related to 6 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ARHGAP1 OT0H2ZBZ Strong Altered Expression [5]
ARHGAP4 OTXV053R Strong Genetic Variation [6]
MAGED2 OTMEWNSE Strong Genetic Variation [7]
NAA10 OTYB9R6I Strong Genetic Variation [8]
SCTR OTC80IMR Strong Genetic Variation [9]
AVPR2 OTJ2GUB1 Definitive X-linked [4]
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⏷ Show the Full List of 6 DOT(s)

References

1 Nephrogenic diabetes insipidus in a 15-year-old Hispanic female with a novel AQP2 mutation.J Pediatr Endocrinol Metab. 2019 Sep 25;32(9):1031-1034. doi: 10.1515/jpem-2019-0099.
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 Nephrogenic diabetes insipidus in initial stage of acute lymphoblastic leukemia and relapse after haploidentical hematopoietic stem-cell transplantation: A case report.Medicine (Baltimore). 2018 Jun;97(24):e11157. doi: 10.1097/MD.0000000000011157.
4 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
5 Immunological profile in a family with nephrogenic diabetes insipidus with a novel 11 kb deletion in AVPR2 and ARHGAP4 genes.BMC Med Genet. 2008 May 20;9:42. doi: 10.1186/1471-2350-9-42.
6 A novel contiguous gene deletion of AVPR2 and ARHGAP4 genes in male dizygotic twins with nephrogenic diabetes insipidus and intellectual disability.Am J Med Genet A. 2012 Oct;158A(10):2511-8. doi: 10.1002/ajmg.a.35591. Epub 2012 Sep 10.
7 Nephrogenic diabetes insipidus.Curr Opin Pediatr. 2017 Apr;29(2):199-205. doi: 10.1097/MOP.0000000000000473.
8 Severe combined immunodeficiency associated with nephrogenic diabetes insipidus and a deletion in the Xq28 region.Clin Immunol. 2006 Aug;120(2):147-55. doi: 10.1016/j.clim.2006.05.001. Epub 2006 Jun 15.
9 Signaling Modification by GPCR Heteromer and Its Implication on X-Linked Nephrogenic Diabetes Insipidus.PLoS One. 2016 Sep 20;11(9):e0163086. doi: 10.1371/journal.pone.0163086. eCollection 2016.