BCPM
MCID: BNG091
MIFTS: 58
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Benign Chronic Pemphigus (BCPM)
Categories:
Cancer diseases, Genetic diseases, Immune diseases, Oral diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Benign Chronic Pemphigus:
Characteristics:Orphanet epidemiological data:58
familial benign chronic pemphigus
Inheritance: Autosomal dominant; Age of onset: Adult; Age of death: normal life expectancy; OMIM:56
Inheritance:
autosomal dominant
Miscellaneous:
onset third-fourth decade lesions provoked by friction, sun exposure, heat, and injury HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases Anatomical: Skin diseases Immune diseases Oral diseases
ICD10:
32
33
Orphanet: 58
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Genetics Home Reference :
25
Benign chronic pemphigus, often called Hailey-Hailey disease, is a rare skin condition that usually appears in early adulthood. The disorder is characterized by red, raw, and blistered areas of skin that occur most often in skin folds, such as the groin, armpits, neck, and under the breasts. These inflamed areas can become crusty or scaly and may itch and burn. The skin problems tend to worsen with exposure to moisture (such as sweat), friction, and hot weather.
The severity of benign chronic pemphigus varies from relatively mild episodes of skin irritation to widespread, persistent areas of raw and blistered skin that interfere with daily activities. Affected skin may become infected with bacteria or fungi, leading to pain and odor. Although the condition is described as "benign" (noncancerous), in rare cases the skin lesions may develop into a form of skin cancer called squamous cell carcinoma.
Many affected individuals also have white lines running the length of their fingernails. These lines do not cause any problems, but they can be useful for diagnosing benign chronic pemphigus.
MalaCards based summary : Benign Chronic Pemphigus, also known as hailey-hailey disease, is related to pemphigus foliaceus and bullous pemphigoid. An important gene associated with Benign Chronic Pemphigus is ATP2C1 (ATPase Secretory Pathway Ca2+ Transporting 1), and among its related pathways/superpathways are Developmental Biology and Cardiac conduction. The drugs Acetylcholine and Cholinergic Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, breast and testes, and related phenotypes are hyperkeratosis and erythema Disease Ontology : 12 A pemphigus that is characterized by recurring blistering most commonly occurring in the folds of the skin and has material basis in mutations in the ATP2C1 gene that result in loss of adhesion within the skin. NIH Rare Diseases : 52 Hailey-Hailey disease is a genetic skin disease that causes blistering. Signs and symptoms include a painful rash and blistering in skin folds, such as the armpits, groin, neck, under the breasts, and between the buttocks. Secondary bacterial infections are not uncommon. Symptoms are often worse in summer months due to heat, sweating, and friction. Hailey-Hailey disease is caused by mutations in the ATP2C1 gene and is inherited in an autosomal dominant manner. Treatment focuses on reducing symptoms and preventing flares, and may include topical medication, laser, and other procedures. OMIM : 56 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). (169600) KEGG : 36 Familial benign chronic pemphigus, also known as Hailey-Hailey disease, is a rare, autosomal dominant skin disorder. The clinical features are uncomfortable skin blisters and vegetative lesions caused by friction. Lesions generally begin between 20 and 40 years of age. In two third of all cases, positive family history is detected. Mutations in ATP2C1 that encodes a secretory pathway Ca2+/Mn2+-ATPase in the Golgi apparatus impair desmosomal keratinocyte adhesion in Hailey-Hailey disease. UniProtKB/Swiss-Prot : 73 Hailey-Hailey disease: Autosomal dominant disorder characterized by persistent blisters and suprabasal cell separation (acantholysis) of the epidermis, due to impaired keratinocyte adhesion. Patients lacking all isoforms except isoform 2 have HHD. Wikipedia : 74 Hailey-Hailey disease, or familial benign chronic pemphigus or familial benign pemphigus, was originally... more... |
Human phenotypes related to Benign Chronic Pemphigus:58 31
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Drugs for Benign Chronic Pemphigus (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 10)
Interventional clinical trials:
Cochrane evidence based reviews: pemphigus, benign familial |
MalaCards organs/tissues related to Benign Chronic Pemphigus:40
Skin,
Breast,
Testes,
Brain,
Colon,
Liver,
Testis
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Articles related to Benign Chronic Pemphigus:(show top 50) (show all 612)
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ClinVar genetic disease variations for Benign Chronic Pemphigus:6 (show top 50) (show all 79)
UniProtKB/Swiss-Prot genetic disease variations for Benign Chronic Pemphigus:73 (show all 20)
Cosmic variations for Benign Chronic Pemphigus:9 (show top 50) (show all 195)
Copy number variations for Benign Chronic Pemphigus from CNVD:7
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Search
GEO
for disease gene expression data for Benign Chronic Pemphigus.
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Pathways related to Benign Chronic Pemphigus according to GeneCards Suite gene sharing:(show all 14)
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Cellular components related to Benign Chronic Pemphigus according to GeneCards Suite gene sharing:(show all 15)
Biological processes related to Benign Chronic Pemphigus according to GeneCards Suite gene sharing:(show all 25)
Molecular functions related to Benign Chronic Pemphigus according to GeneCards Suite gene sharing:
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