Details of Disease

General Information of Disease (ID: DISJ4P9O)

• Disease Name: Central diabetes insipidus
• Synonyms: diabetes insipidus neurogenic; diabetes insipidus cranial type; diabetes insipidus neurohypophyseal; neurogenic diabetes insipidus; CDI
• Definition: Central diabetes insipidus (CDI) is a hypothalamus-pituitary disease characterized by polyuria and polydipsia due to a vasopressin (AVP) deficiency. It can be inherited or acquired (hereditary CDI and acquired CDI).
• Disease Hierarchy:
  DISRXDI4: Neuroendocrine disorder
  :
  DISJ4P9O: Central diabetes insipidus
• Disease Identifiers:
  MONDO ID: MONDO_0015790
  MESH ID: D020790
  UMLS CUI: C0687720
  OMIM ID: 125700
  MedGen ID: 146919
  HPO ID: HP:0000863
  Orphanet ID: 178029
  SNOMED CT ID: 45369008

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 9 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
RPH3A	TT9L4J8	Limited	Biomarker	[1]
ASPH	TT2KHP7	moderate	Biomarker	[2]
ASPA	TT6TLZP	Strong	Biomarker	[3]
ATP4A	TTF1QVM	Strong	Genetic Variation	[4]
AVPR2	TTK8R02	Strong	Biomarker	[5]
GPR182	TTT23CG	Strong	Biomarker	[6]
NPTX2	TTNJ5A6	Definitive	Genetic Variation	[7]
NRP2	TTRXUVC	Definitive	Genetic Variation	[7]
SLC9A3	TTFZVPO	Definitive	Biomarker	[8]

This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
ATP12A	DT5NLZA	Strong	Genetic Variation	[4]
SLC26A3	DTN1FMD	Strong	Altered Expression	[8]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
UGDH	DE48Q2Z	Definitive	Biomarker	[9]

This Disease Is Related to 19 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ACAD8	OT3JI5GB	Limited	Biomarker	[10]
AQP2	OTQLBKK6	Limited	Biomarker	[5]
TFAP2B	OTR1T8E9	Limited	Genetic Variation	[11]
CLVS1	OTQH008A	moderate	Genetic Variation	[2]
MTFMT	OT1OIVJL	moderate	Biomarker	[12]
A1CF	OTJBKFA1	Strong	Biomarker	[3]
BTBD8	OT3A3RD7	Strong	Biomarker	[13]
GZMM	OTEC5CWT	Strong	Biomarker	[14]
HCFC1	OT0UCK62	Strong	Biomarker	[15]
MAX	OTKZ0YKM	Strong	Biomarker	[16]
ROPN1L	OTRWZJ68	Strong	Biomarker	[3]
RPS20	OTI8052R	Strong	Genetic Variation	[17]
RTCA	OTSJRVTD	Strong	Biomarker	[18]
SEL1L	OTC0FB7T	Strong	Biomarker	[19]
SUMF2	OT37I8JL	Strong	Genetic Variation	[20]
SYNM	OTOI8TRJ	Strong	Biomarker	[21]
CRYL1	OT0SJSJM	Definitive	Biomarker	[9]
GLUD1	OTXKOCUH	Definitive	Biomarker	[9]
H6PD	OTO7TNDD	Definitive	Biomarker	[9]

References

• [1] Cullin-associated NEDD8-dissociated protein 1, a novel interactor of rabphilin-3A, deubiquitylates rabphilin-3A and regulates arginine vasopressin secretion in PC12 cells.Endocr J. 2018 Mar 28;65(3):325-334. doi: 10.1507/endocrj.EJ17-0399. Epub 2018 Jan 23.
• [2] Host genetic susceptibility to Clostridium difficile infections in patients undergoing autologous stem cell transplantation: a genome-wide association study.Support Care Cancer. 2018 Sep;26(9):3127-3134. doi: 10.1007/s00520-018-4173-6. Epub 2018 Mar 28.
• [3] Diagnostic stewardship of C. difficile testing: a quasi-experimental antimicrobial stewardship study.Infect Control Hosp Epidemiol. 2019 Mar;40(3):269-275. doi: 10.1017/ice.2018.336. Epub 2019 Feb 21.
• [4] Identification of target risk groups for population-based Clostridium difficile infection prevention strategies using a population attributable risk approach.Int J Infect Dis. 2018 Jan;66:107-112. doi: 10.1016/j.ijid.2017.11.021. Epub 2017 Nov 21.
• [5] Diabetes Insipidus.Adv Exp Med Biol. 2017;969:213-225. doi: 10.1007/978-94-024-1057-0_14.
• [6] How to Save Half a Million Dollars: An Antimicrobial Stewardship Program in a Tertiary Care Center.Cureus. 2019 Jul 10;11(7):e5121. doi: 10.7759/cureus.5121.
• [7] A novel splice site mutation of the arginine vasopressin-neurophysin II gene identified in a kindred with autosomal dominant familial neurohypophyseal diabetes insipidus.Mol Genet Metab. 2005 Sep-Oct;86(1-2):307-13. doi: 10.1016/j.ymgme.2005.05.009. Epub 2005 Jul 11.
• [8] Clostridium difficile toxins A and B decrease intestinal SLC26A3 protein expression.Am J Physiol Gastrointest Liver Physiol. 2018 Jul 1;315(1):G43-G52. doi: 10.1152/ajpgi.00307.2017. Epub 2018 Mar 29.
• [9] A two-step approach improves the diagnosis of Clostridium difficile infection.J Microbiol Methods. 2017 Dec;143:17-19. doi: 10.1016/j.mimet.2017.09.015. Epub 2017 Sep 29.
• [10] Effect of Faecal Microbiota Transplantation for Treatment of Clostridium difficile Infection in Patients With Inflammatory Bowel Disease: A Systematic Review and Meta-Analysis of Cohort Studies.J Crohns Colitis. 2018 May 25;12(6):710-717. doi: 10.1093/ecco-jcc/jjy031.
• [11] A novel missense mutation in TFAP2B associated with Char syndrome and central diabetes insipidus.Am J Med Genet A. 2019 Jul;179(7):1299-1303. doi: 10.1002/ajmg.a.61150. Epub 2019 Apr 22.
• [12] Fecal microbiota transplantation in a toddler after heart transplant was a safe and effective treatment for recurrent Clostridiodes difficile infection: A case report.Pediatr Transplant. 2020 Feb;24(1):e13598. doi: 10.1111/petr.13598. Epub 2019 Oct 16.
• [13] Risk factors and treatment outcomes of severe Clostridioides difficile infection in Singapore.Sci Rep. 2019 Sep 17;9(1):13440. doi: 10.1038/s41598-019-49794-7.
• [14] Effects of defined gut microbial ecosystem components on virulence determinants of Clostridioides difficile.Sci Rep. 2019 Jan 29;9(1):885. doi: 10.1038/s41598-018-37547-x.
• [15] Effect of Clostridium difficile Prevalence in Hospitals and Nursing Homes on Risk of Infection.J Am Geriatr Soc. 2017 Jul;65(7):1527-1534. doi: 10.1111/jgs.14838. Epub 2017 Apr 10.
• [16] Evaluation of a nucleic acid amplification assay for the diagnosis of Clostridioides difficile infection.Anaerobe. 2019 Oct;59:201-204. doi: 10.1016/j.anaerobe.2019.06.015. Epub 2019 Jun 27.
• [17] Burden of Clostridium (Clostridioides) difficile infection during inpatient stays in the USA between 2012 and 2016.J Hosp Infect. 2019 Jun;102(2):135-140. doi: 10.1016/j.jhin.2019.01.020. Epub 2019 Jan 25.
• [18] Monitoring in real time the cytotoxic effect of Clostridium difficile upon the intestinal epithelial cell line HT29.J Microbiol Methods. 2015 Dec;119:66-73. doi: 10.1016/j.mimet.2015.09.022. Epub 2015 Oct 5.
• [19] Mice deficient for ERAD machinery component Sel1L develop central diabetes insipidus.J Clin Invest. 2017 Oct 2;127(10):3591-3593. doi: 10.1172/JCI96839. Epub 2017 Sep 18.
• [20] Typing and susceptibility of bacterial isolates from the fidaxomicin (OPT-80) phase II study for C. difficile infection.Anaerobe. 2009 Dec;15(6):234-6. doi: 10.1016/j.anaerobe.2009.09.005. Epub 2009 Sep 12.
• [21] Characterization of Clostridium difficile isolates collected during a phase 2b clinical study with SYN-004 (ribaxamase) for the prevention of C.difficile infection.Anaerobe. 2018 Oct;53:30-33. doi: 10.1016/j.anaerobe.2018.07.002. Epub 2018 Jul 5.