GeneSet Information

Tier II GS239839 • [MeSH] Pemphigus, Benign Familial : D016506

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:

2015-09-11

DATE UPDATED:

2019-01-07

SPECIES:

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Annotation Information



No annotations are associated with this GeneSet.

Gene List • 2 Genes

Uploaded As Gene Symbol Homology Score Priority LinkOuts Emphasis