Details of Disease | DrugMAP

General Information of Disease (ID: DISPAMX4)

Disease Name	Congenital diarrhea 5 with tufting enteropathy
Synonyms	congenital familial intractable diarrhea with enterocytes assembly abnormalities; congenital enteropathy; intestinal epithelial cell dysplasia; diarrhoea 5, with tufting enteropathy, congenital; enteropathy, congenital tufting; congenital familial intractable diarrhoea with enterocytes assembly abnormalities; diarrhea 5, with tufting enteropathy, congenital; tufting enteropathy; IED; congenital tufting enteropathy; secretory diarrhoea caused by mutation in EPCAM; DIAR5; EPCAM secretory diarrhea; intestinal epithelial dysplasia; secretory diarrhea caused by mutation in EPCAM; congenital diarrhea 5 with tufting enteropathy; congenital familial intractable diarrhoea with epithelial or epithelium abnormalities; EPCAM secretory diarrhoea; congenital familial intractable diarrhea with epithelial or epithelium abnormalities
Definition	Congenital Tufting Enteropathy is a rare congenital enteropathy presenting with early-onset severe and intractable diarrhea that leads to irreversible intestinal failure.
Disease Hierarchy	DISBX8WG: Secretory diarrhea DISYK1KE: Congenital secretory diarrhea DISPAMX4: Congenital diarrhea 5 with tufting enteropathy
Disease Identifiers	MONDO ID MONDO_0013184 MESH ID C567703 UMLS CUI C2750737 OMIM ID 613217 MedGen ID 413031 Orphanet ID 92050

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
TARDBP	TT9RZ03	Strong	Biomarker	[1]
EPCAM	TTZ8WH4	Definitive	Autosomal recessive	[2]
EPCAM	TTZ8WH4	Definitive	Genetic Variation	[3]
MAG	TT9XFON	Definitive	Biomarker	[4]
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This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TMEM106B	OTUWA6NW	Strong	Genetic Variation	[5]
ADCY3	OTGOQM6B	Definitive	Biomarker	[6]
EPCAM	OTHBZK5X	Definitive	Autosomal recessive	[2]
SYNGR3	OTWXOOPZ	Definitive	Biomarker	[7]
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References

1	Co-occurrence of chronic traumatic encephalopathy and prion disease.Acta Neuropathol Commun. 2018 Dec 18;6(1):140. doi: 10.1186/s40478-018-0643-9.
2	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.
3	Enteroids expressing a disease-associated mutant of EpCAM are a model for congenital tufting enteropathy.Am J Physiol Gastrointest Liver Physiol. 2019 Nov 1;317(5):G580-G591. doi: 10.1152/ajpgi.00098.2019. Epub 2019 Aug 21.
4	Quantitative Proteomic Analysis Reveals Impaired Axonal Guidance Signaling in Human Postmortem Brain Tissues of Chronic Traumatic Encephalopathy.Exp Neurobiol. 2019 Jun;28(3):362-375. doi: 10.5607/en.2019.28.3.362. Epub 2019 Jun 26.
5	Variation in TMEM106B in chronic traumatic encephalopathy.Acta Neuropathol Commun. 2018 Nov 4;6(1):115. doi: 10.1186/s40478-018-0619-9.
6	Gene Profiling of Nucleus Basalis Tau Containing Neurons in Chronic Traumatic Encephalopathy: A Chronic Effects of Neurotrauma Consortium Study.J Neurotrauma. 2018 Jun 1;35(11):1260-1271. doi: 10.1089/neu.2017.5368. Epub 2018 Apr 5.
7	Neuron-Derived Exosome Proteins May Contribute to Progression From Repetitive Mild Traumatic Brain Injuries to Chronic Traumatic Encephalopathy.Front Neurosci. 2019 May 8;13:452. doi: 10.3389/fnins.2019.00452. eCollection 2019.