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
Disease Ontology
DOID:0050429
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
493 ATP2B4 ATPase plasma membrane Ca2+ transporting 4
Displaying all 3 entries
Gene ID Gene Symbol Description Source
11941 Atp2b2 ATPase, Ca++ transporting, plasma membrane 2
67972 Atp2b1 ATPase, Ca++ transporting, plasma membrane 1
381290 Atp2b4 ATPase, Ca++ transporting, plasma membrane 4
Displaying 1 entry
Gene ID Gene Symbol Description Source
177795 mca-1 Plasma membrane calcium-transporting ATPase mca-1

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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