Hailey-Hailey disease

Summary
Synonym
  • BENIGN CHRONIC PEMPHIGUS
  • Pemphigus, Benign Familial
Definition
A pemphigus that is characterized by recurring blistering most commonly occurring in the folds of the skin and has_material_basis_in mutations in the ATP2C1 gene that result in loss of adhesion within the skin.
Super Class
autosomal dominant disease pemphigus
External Links
Disease Ontology
DOID:0050429
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 1 - 10 of 19 in total
Gene ID Gene Symbol Description Source
142 PARP1 poly(ADP-ribose) polymerase 1
537 ATP6AP1 ATPase H+ transporting accessory protein 1
847 CAT catalase
1634 DCN decorin
1717 DHCR7 7-dehydrocholesterol reductase
1892 ECHS1 enoyl-CoA hydratase, short chain 1
5336 PLCG2 phospholipase C gamma 2
5373 PMM2 phosphomannomutase 2
9469 CHST3 carbohydrate sulfotransferase 3
9487 PIGL phosphatidylinositol glycan anchor biosynthesis class L

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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: August 19, 2024