Benign Chronic Pemphigus; Bcpm

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).

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.


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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
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 %

We have 6 more panels available in our App

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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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