Details of Disease | DrugMAP

General Information of Disease (ID: DIS0S0ON)

Disease Name	Trichohepatoenteric syndrome 1
Synonyms	diarrhea, syndromic; diarrhea, fatal infantile, with trichorrhexis nodosa; The syndrome; THES1; trichohepatoenteric syndrome 1; tricho-hepato-enteric syndrome caused by mutation in TTC37; TTC37 tricho-hepato-enteric syndrome; TRICHOHEPATOENTERIC syndrome 1
Definition	Any tricho-hepato-enteric syndrome in which the cause of the disease is a mutation in the TTC37 gene.
Disease Hierarchy	DISL3ODF: Trichohepatoenteric syndrome DIS0S0ON: Trichohepatoenteric syndrome 1
Disease Identifiers	MONDO ID MONDO_0024541 UMLS CUI C4551982 OMIM ID 222470 MedGen ID 1644087

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SKIC3	OTTB3AVE	Definitive	Autosomal recessive	[1]
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References

1	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.