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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 |
|---|---|---|---|
| 9469 | CHST3 | carbohydrate sulfotransferase 3 | |
| 9663 | LPIN2 | lipin 2 | |
| 10555 | AGPAT2 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | |
| 11285 | B4GALT7 | beta-1,4-galactosyltransferase 7 | |
| 54658 | UGT1A1 | UDP glucuronosyltransferase family 1 member A1 | |
| 57704 | GBA2 | glucosylceramidase beta 2 | |
| 60495 | HPSE2 | heparanase 2 (inactive) | |
| 64132 | XYLT2 | xylosyltransferase 2 | |
| 145173 | B3GLCT | beta 3-glucosyltransferase | |
| 152330 | CNTN4 | contactin 4 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9P232 | Contactin-3 | |
| Q9P2R7 | Succinate--CoA ligase [ADP-forming] subunit beta, mitochondrial | |
| Q9UBV7 | Beta-1,4-galactosyltransferase 7 | |
| Q9UNP4 | Lactosylceramide alpha-2,3-sialyltransferase | |
| Q9UQE7 | Structural maintenance of chromosomes protein 3 |
