trichohepatoenteric syndrome

Summary
Synonym
  • SD/THE
  • Syndromic diarrhea/Tricho-hepato-enteric syndrome
  • THES
  • Tricho-hepato-enteric syndrome
  • phenotypic diarrhea
  • syndromic diarrhea
Definition
A syndrome characterized by intractable diarrhea, facial dysmorphism, immune abnormalities, and hair abnormalities in nearly all patients with liver and/or skin abnormalities seen in more than half of cases that has_material_basis_in defects in components of the SKI complex.
Super Class
autosomal recessive disease syndrome
External Links
Disease Ontology
DOID:0111414
Mondo Disease Ontology
MeSH
UMLS
ORDO
OMIM
GARD
Related Genes
Displaying entries 31 - 40 of 50 in total
Gene ID Gene Symbol Description Source
5743 PTGS2 prostaglandin-endoperoxide synthase 2
6392 SDHD succinate dehydrogenase complex subunit D
7007 TECTA tectorin alpha
7086 TKT transketolase
7355 SLC35A2 solute carrier family 35 member A2
8658 TNKS tankyrase
8803 SUCLA2 succinate-CoA ligase ADP-forming subunit beta
8869 ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5
9126 SMC3 structural maintenance of chromosomes 3
9197 SLC33A1 solute carrier family 33 member 1

About Release Notes Help Feedback

Click here to visit the beta site.


International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024