Details of Disease

General Information of Disease (ID: DISH3PX3)

• Disease Name: Chronic diarrhoea
• Synonyms: diarrheal disease, chronic; chronic diarrhoea; chronic diarrhea
• Disease Class: 1A36: Amoebiasis
• Definition: Chronic form of diarrheal disease.
• Disease Hierarchy:
  DISQRVLK: Diarrhea
  DISH3PX3: Chronic diarrhoea
• ICD Code: ICD-11: ICD-11: 1A36.0Z
• Disease Identifiers:
  MONDO ID: MONDO_0044751
  UMLS CUI: C0401151
  MedGen ID: 96036
  HPO ID: HP:0002028
  SNOMED CT ID: 236071009

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 1 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Eupatilin	DMD02QS	Approved	Small molecular drug	[1]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
BTK	TTGM6VW	Strong	Genetic Variation	[2]
GUCY2C	TTLDPRG	Strong	Genetic Variation	[3]
SLC5A6	TT61XTV	Definitive	Biomarker	[4]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC51B	DT1V9AJ	Strong	Biomarker	[5]

This Disease Is Related to 6 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ATP8B1	OTALGS63	Limited	Biomarker	[6]
SAR1B	OT0JZOMY	Limited	Biomarker	[7]
STXBP2	OTX8GUC4	Limited	Genetic Variation	[8]
BPTF	OTD1RZAD	Strong	Genetic Variation	[9]
RAG1	OTV131E4	Strong	Biomarker	[10]
SAMD9	OTDG48P0	Strong	Genetic Variation	[11]

References

• [1] Drugs@FDA. U.S. Food and Drug Administration. U.S. Department of Health & Human Services. 2015
• [2] Comparison of Common Monogenic Defects in a Large Predominantly Antibody Deficiency Cohort.J Allergy Clin Immunol Pract. 2019 Mar;7(3):864-878.e9. doi: 10.1016/j.jaip.2018.09.004. Epub 2018 Sep 19.
• [3] Congenital secretory diarrhoea caused by activating germline mutations in GUCY2C. Gut. 2016 Aug;65(8):1306-13. doi: 10.1136/gutjnl-2015-309441. Epub 2015 May 20.
• [4] Biotin and pantothenic acid oversupplementation to conditional SLC5A6 KO mice prevents the development of intestinal mucosal abnormalities and growth defects.Am J Physiol Cell Physiol. 2018 Jul 1;315(1):C73-C79. doi: 10.1152/ajpcell.00319.2017. Epub 2018 Apr 18.
• [5] Organic solute transporter- (SLC51B) deficiency in two brothers with congenital diarrhea and features of cholestasis. Hepatology. 2018 Aug;68(2):590-598. doi: 10.1002/hep.29516. Epub 2018 May 11.
• [6] Liver retransplantation with external biliary diversion for progressive familial intrahepatic cholestasis type 1: a case report.Pediatr Transplant. 2009 Aug;13(5):611-4. doi: 10.1111/j.1399-3046.2008.00878.x. Epub 2008 Sep 10.
• [7] Anderson or chylomicron retention disease: molecular impact of five mutations in the SAR1B gene on the structure and the functionality of Sar1b protein.Mol Genet Metab. 2008 Jan;93(1):74-84. doi: 10.1016/j.ymgme.2007.08.120. Epub 2007 Oct 22.
• [8] Type 5 Familial Hemophagocytic Lymphohistiocytosis in a Seven-year-old Girl Post Second Bone Marrow Transplantation with Failure to Thrive: STXBP2 Novel Mutation.Cureus. 2019 Nov 27;11(11):e6246. doi: 10.7759/cureus.6246.
• [9] Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. Am J Hum Genet. 2017 Oct 5;101(4):503-515. doi: 10.1016/j.ajhg.2017.08.014. Epub 2017 Sep 21.
• [10] Three faces of recombination activating gene 1 (RAG1) mutations.Acta Microbiol Immunol Hung. 2015 Dec;62(4):393-401. doi: 10.1556/030.62.2015.4.4.
• [11] MIRAGE syndrome is a rare cause of 46,XY DSD born SGA without adrenal insufficiency.PLoS One. 2018 Nov 7;13(11):e0206184. doi: 10.1371/journal.pone.0206184. eCollection 2018.