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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 4360 | MRC1 | mannose receptor C-type 1 | |
| 4595 | MUTYH | mutY DNA glycosylase | |
| 4706 | NDUFAB1 | NADH:ubiquinone oxidoreductase subunit AB1 | |
| 4952 | OCRL | OCRL inositol polyphosphate-5-phosphatase | |
| 5048 | PAFAH1B1 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | |
| 5067 | CNTN3 | contactin 3 | |
| 5277 | PIGA | phosphatidylinositol glycan anchor biosynthesis class A | |
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
| 5621 | PRNP | prion protein (Kanno blood group) | |
| 5728 | PTEN | phosphatase and tensin homolog |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P09622 | Dihydrolipoyl dehydrogenase, mitochondrial | |
| P10645 | Chromogranin-A | |
| P12821 | Angiotensin-converting enzyme | |
| P16152 | Carbonyl reductase [NADPH] 1 | |
| P20916 | Myelin-associated glycoprotein | |
| P22304 | Iduronate 2-sulfatase | |
| P22309 | UDP-glucuronosyltransferase 1A1 | |
| P22897 | Macrophage mannose receptor 1 | |
| P27797 | Calreticulin | |
| P29401 | Transketolase |
