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hemochromatosis type 1
Summary
- Synonym
-
- HFE1
- symptomatic form of HFE-related hereditary hemochromatosis
- symptomatic form of classic hemochromatosis
- symptomatic form of hemochromatosis type 1
- Definition
- A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the HFE gene on chromosome 6p22.
- Super Class
- hemochromatosis
External Links
- Disease Ontology
- DOID:0111029
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 6783 | SULT1E1 | sulfotransferase family 1E member 1 | |
| 7412 | VCAM1 | vascular cell adhesion molecule 1 | |
| 7991 | TUSC3 | tumor suppressor candidate 3 | |
| 8443 | GNPAT | glyceronephosphate O-acyltransferase | |
| 9415 | FADS2 | fatty acid desaturase 2 | |
| 27306 | HPGDS | hematopoietic prostaglandin D synthase | |
| 54658 | UGT1A1 | UDP glucuronosyltransferase family 1 member A1 | |
| 80339 | PNPLA3 | patatin like phospholipase domain containing 3 | |
| 148738 | HJV | hemojuvelin BMP co-receptor |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P51654 | Glypican-3 | |
| P78333 | Glypican-5 | |
| Q10981 | Galactoside alpha-(1,2)-fucosyltransferase 2 | |
| Q13454 | Tumor suppressor candidate 3 | |
| Q6ZVN8 | Hemojuvelin | |
| Q9NST1 | 1-acylglycerol-3-phosphate O-acyltransferase PNPLA3 |
