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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 |
|---|---|---|---|
| 412 | STS | steroid sulfatase | |
| 593 | BCKDHA | branched chain keto acid dehydrogenase E1 subunit alpha | |
| 811 | CALR | calreticulin | |
| 873 | CBR1 | carbonyl reductase 1 | |
| 1113 | CHGA | chromogranin A | |
| 1555 | CYP2B6 | cytochrome P450 family 2 subfamily B member 6 | |
| 1583 | CYP11A1 | cytochrome P450 family 11 subfamily A member 1 | |
| 1584 | CYP11B1 | cytochrome P450 family 11 subfamily B member 1 | |
| 1585 | CYP11B2 | cytochrome P450 family 11 subfamily B member 2 | |
| 1586 | CYP17A1 | cytochrome P450 family 17 subfamily A member 1 |
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 |
