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
Disease Ontology
DOID:14735
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
Related Genes
Displaying all 9 entries
Gene ID Gene Symbol Description Source
284 ANGPT1 angiopoietin 1
710 SERPING1 serpin family G member 1
2147 F2 coagulation factor II, thrombin
2155 F7 coagulation factor VII
2161 F12 coagulation factor XII
3827 KNG1 kininogen 1
5340 PLG plasminogen
26509 MYOF myoferlin
64711 HS3ST6 heparan sulfate-glucosamine 3-sulfotransferase 6
Displaying all 10 entries
Gene ID Gene Symbol Description Source
11600 Angpt1 angiopoietin 1
12258 Serping1 serine (or cysteine) peptidase inhibitor, clade G, member 1
14061 F2 coagulation factor II
14068 F7 coagulation factor VII
16644 Kng1 kininogen 1
18815 Plg plasminogen
58992 F12 coagulation factor XII (Hageman factor)
226101 Myof myoferlin
328779 Hs3st6 heparan sulfate (glucosamine) 3-O-sulfotransferase 6
385643 Kng2 kininogen 2
Displaying all 6 entries
Gene ID Gene Symbol Description Source
25087 Kng2l1 kininogen 2-like 1
89807 Angpt1 angiopoietin 1
260320 F7 coagulation factor VII
295703 Serping1 serpin family G member 1
306761 F12 coagulation factor XII
684979 Hs3st6 heparan sulfate-glucosamine 3-sulfotransferase 6
Displaying all 3 entries
Gene ID Gene Symbol Description Source
32918 Hs3st-B Heparan sulfate 3-O sulfotransferase-B
34091 Spn28Dc Serpin 28Dc
36411 sca scabrous
Displaying 1 entry
Gene ID Gene Symbol Description Source
797517 si:dkey-121b10.7 si:dkey-121b10.7
Displaying all 3 entries
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)
Displaying all 2 entries
Gene ID Gene Symbol Description Source
177911 Y43C5A.2 Fibrinogen C-terminal domain-containing protein
3564879 hst-3.2 Sulfotransferase domain-containing protein

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024