Benign Chronic Pemphigus; Bcpm

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Hailey-Hailey disease, also known as benign chronic pemphigus, is a rare autosomal dominant cutaneous disorder that usually becomes manifest in the third or fourth decade of life with erythema, vesicles, and erosions involving the body folds, particularly the groin and axillary regions. Other sites of the body, such as the neck, perianal, and submammary regions, may likewise be affected (summary by Poblete-Gutierrez et al., 2004).This disorder was first described by the dermatologist brothers Hailey and Hailey (1939).

Genes related to Benign Chronic Pemphigus; Bcpm

ATP2C1

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Clinical Features

Top most frequent phenotypes and symptoms related to Benign Chronic Pemphigus; Bcpm

Intellectual disability
Short stature
Growth delay
Neoplasm
Pain
Cataract
Feeding difficulties
Visual impairment
Frontal bossing
Edema

And another 37 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Benign Chronic Pemphigus; Bcpm Is also known as hhd, hailey-hailey disease, pemphigus, benign familial.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Benign Chronic Pemphigus; Bcpm Recommended genes panels

Panel Name, Specifity and genes Tested/covered
ATP2C1. By Institute for Human Genetics University Clinic Freiburg (Germany). ATP2C1 Specificity 100 % Genes 100 %
ATP2C1 Gene Sequencing. By GeneDx (United States). ATP2C1 Specificity 100 % Genes 100 %
Benign chronic pemphigus Comprehensive Test. By Connective Tissue Gene Tests (United States). ATP2C1 Specificity 100 % Genes 100 %
Benign chronic pemphigus NGS Test. By Connective Tissue Gene Tests (United States). ATP2C1 Specificity 100 % Genes 100 %
Benign chronic pemphigus Deletion / Duplication Test. By Connective Tissue Gene Tests (United States). ATP2C1 Specificity 100 % Genes 100 %
Ichthyoses and related disorders of cornification Panel. By CeGaT GmbH (Germany). SLC27A4, SNAP29, ST14, STS, TAT, TGM1, TGM5, VPS33B, ATP2C1, NSDHL, ALOXE3, WNT10A, SERPINB7, ELOVL4, ABCA12, MBTPS2, SPINK5, CARD14, CDSN, TRPV3 , (...) View the complete list with 44 more genes Panel complete gene list SLC27A4, SNAP29, ST14, STS, TAT, TGM1, TGM5, VPS33B, ATP2C1, NSDHL, ALOXE3, WNT10A, SERPINB7, ELOVL4, ABCA12, MBTPS2, SPINK5, CARD14, CDSN, TRPV3, SLURP1, CLDN1, POMP, SUMF1, KRT6C, RHBDF2, GTF2H5, PNPLA1, ABHD5, LIPN, CERS3, CSTA, CTSC, AAGAB, CYP4F22, NIPAL4, DSG1, DSP, EBP, ENPP1, ERCC2, ERCC3, FLG, ALDH3A2, ALMS1, GJB2, GJB4, GJB6, ALOX12B, AP1S1, JUP, AQP5, KRT1, KRT10, KRT14, KRT16, KRT17, KRT2, KRT6A, KRT6B, KRT9, LOR, ATP2A2, PHYH Specificity 2 % Genes 100 %
Single gene testing ATP2C1. By CeGaT GmbH (Germany). ATP2C1 Specificity 100 % Genes 100 %
Hailey–Hailey disease. By Praxis fuer Humangenetik Wien (Austria). ATP2C1 Specificity 100 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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