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hereditary angioedema
Summary
- Synonym
-
- HANE
- Hereditary angioneurotic edema
- Definition
- An angioedema that is characterized by recurrent episodes of severe swelling of the skin and mucous membranes.
- Super Class
- angioedema autosomal dominant disease
External Links
- Disease Ontology
- DOID:14735
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 28 | ABO | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | |
| 1636 | ACE | angiotensin I converting enzyme | |
| 4153 | MBL2 | mannose binding lectin 2 | |
| 7412 | VCAM1 | vascular cell adhesion molecule 1 | |
| 7512 | XPNPEP2 | X-prolyl aminopeptidase 2 | |
| 10747 | MASP2 | MBL associated serine protease 2 | |
| 23583 | SMUG1 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | |
| 64711 | HS3ST6 | heparan sulfate-glucosamine 3-sulfotransferase 6 |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 797517 | si:dkey-121b10.7 | si:dkey-121b10.7 |
| Gene ID | Gene Symbol | Description | Source | Organism |
|---|---|---|---|---|
| 100489739 | hs3st6 | heparan sulfate-glucosamine 3-sulfotransferase 6 | Xenopus tropicalis (tropical clawed frog) | |
| 108701670 | hs3st6.L | heparan sulfate-glucosamine 3-sulfotransferase 6 L homeolog | Xenopus laevis (African clawed frog) | |
| 108703226 | hs3st6.S | heparan sulfate-glucosamine 3-sulfotransferase 6 S homeolog | Xenopus laevis (African clawed frog) |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O00187 | Mannan-binding lectin serine protease 2 | |
| O43895 | Xaa-Pro aminopeptidase 2 | |
| P11226 | Mannose-binding protein C | |
| P12821 | Angiotensin-converting enzyme | |
| P16442 | Histo-blood group ABO system transferase | |
| P19320 | Vascular cell adhesion protein 1 |
