DESCRIPTION:
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. Generated by gene2mesh v. 1.1.1
LABEL:
Pemphigus, Benign Familial
SCORE TYPE:
Binary
DATE ADDED:
DATE UPDATED:
SPECIES:
| Uploaded As | Gene Symbol | Homology | Score | Priority | LinkOuts | Emphasis |
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GeneWeaver