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Disease Pemphigus, Benign Familial

Name Pemphigus, Benign Familial
Synonyms BCPM | Benign Chronic Pemphigus | Benign Familial Pemphigus | Familial Benign Chronic Pemphigus | Familial Pemphigus, Benign | Hailey Hailey Disease | Hailey-Hailey Disease | HHD | PEMPHIGUS, BENIGN FAMILIAL
Definition An autosomal dominantly inherited skin disorder characterized by recurrent eruptions of vesicles and BULLAE mainly on the neck, axillae, and groin. Mutations in the ATP2C1 gene (encoding the secretory pathway Ca2++/Mn2++ ATPase 1 (SPCA1)) cause this disease. It is clinically and histologically similar to DARIER DISEASE - both have abnormal, unstable DESMOSOMES between KERATINOCYTES and defective CALCIUM-TRANSPORTING ATPASES. It is unrelated to PEMPHIGUS VULGARIS though it closely resembles that disease.
Categories Genetic disease (inborn) | Skin disease
MeSH® ID D016506
OMIM® ID 169600
External Links

Top ↑ Ancestors

1. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Skin Diseases, Genetic Has associated chemicals Has associated genes Has associated exposure references Pemphigus, Benign Familial Has associated chemicals Has associated genes
2. DiseasesSkin and Connective Tissue Diseases Has associated chemicals Has associated genes Has associated exposure references Skin Diseases Has associated chemicals Has associated genes Has associated exposure references Skin Diseases, Genetic Has associated chemicals Has associated genes Has associated exposure references Pemphigus, Benign Familial Has associated chemicals Has associated genes
3. DiseasesSkin and Connective Tissue Diseases Has associated chemicals Has associated genes Has associated exposure references Skin Diseases Has associated chemicals Has associated genes Has associated exposure references Skin Diseases, Vesiculobullous Has associated chemicals Has associated genes Pemphigus, Benign Familial Has associated chemicals Has associated genes

Top ↑ Descendants

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