BCPM
MCID: HLY001
MIFTS: 57

Hailey-Hailey Disease (BCPM) malady

Skin, Genetic categories

Summaries for Hailey-Hailey Disease

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 47OMIM, 33MalaCards
See all sources

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NIH Rare Diseases:43 Hailey-hailey disease is an inherited condition characterized by recurrent blisters seen primarily on the neck, groin, and axillae (armpit). precipitating factors include heat, sweating, skin infection, and ultraviolet radiation. the disorder often becomes apparent after puberty, usually by the third or fourth decade, but symptoms can develop at any age. hailey-hailey disease occurs due to a mutation in a specific gene (atp2c1) that creates a protein that is essential for skin health. there is no cure for this condition. treatment is aimed at reducing symptoms and preventing flare-ups. this condition is inherited in an autosomal dominant fashion. last updated: 7/25/2011

MalaCards: Hailey-Hailey Disease, also known as benign chronic pemphigus, is related to pemphigus and squamous cell carcinoma, and has symptoms including autosomal dominant inheritance, hyperkeratosis/ainhum/hyperkeratotic skin fissures and chronic skin infection/ulcerations/ulcers/cancrum. An important gene associated with Hailey-Hailey Disease is ATP2C1 (ATPase, Ca++ transporting, type 2C, member 1), and among its related pathways are Platinum Pathway, Pharmacokinetics/Pharmacodynamics and Cell adhesion Endothelial cell contacts by junctional mechanisms. The compounds butyrate and alpha e have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and breast, and related mouse phenotypes are craniofacial and embryogenesis.

Genetics Home Reference:21 Benign chronic pemphigus, often called Hailey-Hailey disease, is a rare skin condition that usually appears in adolescence or 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, hot weather, and ultraviolet (UV) radiation from the sun.

Description from OMIM:47 169600

Aliases & Classifications for Hailey-Hailey Disease

Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 35MeSH, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic
Anatomical: Skin


Characteristics (Orphanet epidemiological data):

49
hailey-hailey disease:
Inheritance: Autosomal dominant; Age of onset: Adulthood; Age of death: Normal


Aliases & Descriptions:

hailey-hailey disease 8 9 43 21 47 10 45 49
benign chronic pemphigus 8 43 20 21
familial benign pemphigus 43 22 61
familial benign chronic pemphigus 21 49
pemphigus, benign familial 8 21
benign familial pemphigus 43 21
benign chronic familial pemphigus of hailey-hailey 49
bcpm 43


External Ids:

Disease Ontology8 DOID:0050429
OMIM47 169600
MeSH35 D016506
ICD10 via Orphanet26 Q82.8

Related Diseases for Hailey-Hailey Disease

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Hailey-Hailey Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 82)
idRelated DiseaseScoreTop Affiliating Genes
1pemphigus31.5JUP, DSP, CDH3, DSG1, DSG3
2squamous cell carcinoma30.8DSP, IVL, ATP7B, ATP2A2, JUP, DSG3
3bullous pemphigoid30.4DSP
4keratosis follicularis30.4ATP2A2, ATP2C1, DNAH8
5pemphigus vulgaris30.4JUP, IVL, VCL, CDH3, CDH1, DSG1
6vulva squamous cell carcinoma10.5
7genital herpes10.3
8eczema herpeticum10.3
9hidradenitis suppurativa10.3
10syringoma10.3
11acrokeratosis verruciformis10.3
12graves' disease10.3
13supernumerary nipples10.3
14epidermolysis bullosa10.0DSP
15hypertrophic cardiomyopathy10.0ATP2C1
16palmoplantar keratosis10.0DSG1
17pemphigus vegetans10.0DSG1
18bullous impetigo10.0DSG1
19subcorneal pustular dermatosis10.0DSG1
20silicosis10.0DSG1
21chordoma10.0JUP
22naxos disease10.0DSP, JUP
23ritter's disease10.0DSG1
24cardiomyopathy dilated with woolly hair and keratoderma10.0JUP, DSP
25keratoderma10.0DSP, DSG1
26psoriasis10.0CDH3, IVL
27pemphigus erythematosus10.0DSP, DSG3
28keratoacanthoma10.0DSG3, IVL
29keratosis10.0DSP, IVL, JUP
30lichen planus10.0DSG3, IVL
31papilloma10.0IVL, GJA1
32hereditary diffuse gastric cancer10.0CDH1
33bullous skin disease10.0DSG1, DSG3
34bowen syndrome10.0JUP, IVL
35arrhythmogenic right ventricular dysplasia10.0DSC2, DSP, JUP
36colon adenocarcinoma10.0JUP, CDH1
37meningioma10.0JUP, DSP
38gastroesophageal reflux disease10.0DNAH8
39hypertension10.0DNAH8
40basal cell carcinoma10.0JUP, IVL, CDH3
41pemphigus foliaceus10.0IVL, DSG3, DSG1
42malignant mesothelioma10.0JUP, CDH1
43wilms tumor10.0SP1
44microinvasive gastric cancer10.0JUP, CDH1
45endometrial carcinoma10.0CDH3, CDH1, JUP
46tuberculosis10.0SP1
47dermatitis10.0IVL, DSG3, DSG1
48cataract10.0DNAH8, GJA1
49cystic fibrosis10.0YY1, DNAH8
50bladder carcinoma10.0JUP, CDH1, CDH3

Graphical network of the top 20 diseases related to Hailey-Hailey Disease:



Diseases related to hailey-hailey disease

Clinical Features for Hailey-Hailey Disease

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

169600

Clinical synopsis from OMIM:

169600

Symptoms:

49 (show all 6)
  • autosomal dominant inheritance
  • hyperkeratosis/ainhum/hyperkeratotic skin fissures
  • chronic skin infection/ulcerations/ulcers/cancrum
  • vesicles/bullous/exsudative lesions/bullous/cutaneous/mucosal detachment
  • enanthema/aphtosa/aphta/leukoplakia
  • positive nikolski's sign/achantolysis

Drugs & Therapeutics for Hailey-Hailey Disease

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Hailey-Hailey Disease

Drug clinical trials:

Search ClinicalTrials for Hailey-Hailey Disease

Search NIH Clinical Center for Hailey-Hailey Disease

Search CenterWatch for Hailey-Hailey Disease

Genetic Tests for Hailey-Hailey Disease

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Hailey-Hailey Disease:

id Genetic test Affiliating Genes
1 Benign Chronic Pemphigus20 ATP2C1
2 Familial Benign Pemphigus22

Anatomical Context for Hailey-Hailey Disease

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Hailey-Hailey Disease:

33
Skin, Liver, Breast, B cells

Animal Models for Hailey-Hailey Disease or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Hailey-Hailey Disease:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.6ATP2C1, DSG3, GJA1, VCL, SP1, ATP7A
2MP:00053808.1JUP, ATP7A, ATP2C1, DSP, CDH1, GJA1
3MP:00107717.8SP1, JUP, ATP2A2, ATP7A, ATP2C1, ATP7B
4MP:00053847.7JUP, ATP2A2, ATP7A, ATP2C1, ATP7B, DSP
5MP:00053787.3ATP7B, ATP2C1, ATP7A, ATP2A2, JUP, DSP
6MP:00107686.9ATP7B, ATP2C1, ATP7A, ATP2A2, JUP, DSP

Publications for Hailey-Hailey Disease

Sources:
51PubMed
See all sources

Articles related to Hailey-Hailey Disease:

(show top 50)    (show all 211)
idTitleAuthorsYear
1
Papular acantholytic dermatosis in the genito-crural region: a localized form of darier disease or hailey-hailey disease? (22995947)
2013
2
Hailey-hailey disease on sun-exposed areas. (24082234)
2013
3
Hailey-Hailey disease treated with methotrexate. (22826719)
2012
4
Familial benign chronic pemphigus (Hailey-Hailey Disease): use of topical immunomodulators as a modern treatment option. (22051715)
2011
5
A case of Hailey-Hailey disease in an infant with a new ATP2C1 gene mutation. (20403116)
2011
6
Segmental multilayered argon plasma coagulation: effective therapy option for perianal and scrotal Hailey-Hailey disease. (20478009)
2011
7
Benign familial pemphigus (Hailey-Hailey disease) responsive to low dose cyclosporine. (20657133)
2010
8
Hailey-Hailey disease in Tunisia. (20465693)
2010
9
Six novel ATP2C1 mutations identified in Chinese patients with Hailey-Hailey disease. (20226632)
2010
10
Complex multipathways alterations and oxidative stress are associated with Hailey-Hailey disease. (19903178)
2010
11
A novel mutation in the ATP2C1 gene is associated with Hailey-Hailey disease in a Chinese family. (19126050)
2009
12
Familial benign chronic pemphigus (Hailey-Hailey disease). (19891923)
2009
13
A case of eczema herpeticum with hailey-hailey disease. (20523813)
2009
14
Three novel ATP2C1 mutations in Chinese patients with Hailey-Hailey disease. (18205868)
2008
15
Molecular and clinical characterization in Japanese and Korean patients with Hailey-Hailey disease: six new mutations in the ATP2C1 gene. (18372165)
2008
16
Fixed and soluble immune complexes in the epidermis in Hailey-Hailey disease. (17535412)
2007
17
Aminoglycosides as potential pharmacogenetic agents in the treatment of Hailey-Hailey disease. (16417242)
2006
18
Novel mutation in ATP2C1 gene in a Japanese patient with Hailey-Hailey disease. (16484827)
2006
19
Topical tacrolimus in Hailey-Hailey disease. (16440577)
2005
20
Expression of SPCA1 (Hailey-Hailey disease gene product) in acantholytic dermatoses. (16199140)
2005
21
The first genetically supported case of chronic benign pemphigus (Hailey-Hailey disease in Hungary]. (16255378)
2005
22
Undiagnosed Hailey-Hailey disease causing painful erosive skin changes during patch testing. (16029372)
2005
23
Calcium pumps and keratinocytes: lessons from Darier's disease and Hailey-Hailey disease. (15149492)
2004
24
SPCA1 pumps and Hailey-Hailey disease. (15336968)
2004
25
Treatment of Hailey-Hailey disease with topical calcitriol. (15337998)
2004
26
Is topical tacrolimus really an effective therapy for Hailey-Hailey disease? (15492199)
2004
27
Four novel mutations in ATP2C1 found in Chinese patients with Hailey-Hailey disease. (14510977)
2003
28
Topical tacrolimus ointment is an effective therapy for Hailey-Hailey disease. (14623698)
2003
29
Hailey-Hailey disease: molecular and clinical characterization of novel mutations in the ATP2C1 gene. (11841554)
2002
30
Hailey-Hailey disease on sun-exposed areas. (12390681)
2002
31
Acute generalized Hailey-Hailey disease. (12139673)
2002
32
Photodynamic therapy with 5-aminolevulinic acid for recalcitrant familial benign pemphigus (Hailey-Hailey disease). (12399767)
2002
33
Mutations of ATP2C1 in Japanese patients with Hailey-Hailey disease: intrafamilial and interfamilial phenotype variations and lack of correlation with mutation patterns. (11886536)
2001
34
Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease. (10615129)
2000
35
Squamous cell carcinoma arising in Hailey-Hailey disease. (10901726)
2000
36
Dissociation of intra- and extracellular domains of desmosomal cadherins and E-cadherin in Hailey-Hailey disease and Darier's disease. (10792220)
2000
37
Hailey-Hailey disease with acrokeratosis verruciformis Hopf. (8740277)
1996
38
Bullous drug eruption to griseofulvin in a man with Hailey-Hailey disease. (8565613)
1995
39
Treatment of Hailey-Hailey disease by dermabrasion. (8496429)
1993
40
Hailey-Hailey disease masquerading as candidiasis. (8103482)
1993
41
Hailey-Hailey disease: a widespread abnormality of cell adhesion. (2025553)
1991
42
Familial benign chronic pemphigus (Hailey-Hailey disease) and contact allergies. (2145330)
1990
43
Contact allergies in patients with familial benign chronic pemphigus (Hailey-Hailey disease) (2528572)
1989
44
Histologic findings of Hailey-Hailey disease in a patient with bullous pemphigoid. (2681296)
1989
45
Surgical control of Hailey-Hailey disease. (3318985)
1987
46
Hailey-Hailey disease--case report. (6672559)
1983
47
Surgical management of familial benign chronic pemphigus (Hailey-Hailey disease) by excision and primary closure. (7096674)
1982
48
Surgical management of Hailey-Hailey disease: report of a case. (7410688)
1980
49
Simultaneous occurrence of familial benign chronic pemphigus (Hailey-Hailey disease) and syringoma on the vulva. (646408)
1978
50
Hailey-Hailey disease. (6037931)
1967

Genetic Variations for Hailey-Hailey Disease

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Hailey-Hailey Disease:

63 (show all 17)
id Symbol AA change Variation SNP ID
1ATP2C1p.Ala304ThrVAR_008803
2ATP2C1p.Leu318ProVAR_008804
3ATP2C1p.Met641ArgVAR_008805
4ATP2C1p.Gly645ArgVAR_008806
5ATP2C1p.Thr709MetVAR_008807
6ATP2C1p.Pro744ArgVAR_008808
7ATP2C1p.Pro201LeuVAR_010130
8ATP2C1p.Cys344TyrVAR_010131
9ATP2C1p.Thr570IleVAR_010132
10ATP2C1p.Cys490PheVAR_019523
11ATP2C1p.Leu584ProVAR_019524
12ATP2C1p.Gly309CysVAR_022672
13ATP2C1p.Leu341ProVAR_022673
14ATP2C1p.Cys411ArgVAR_022674
15ATP2C1p.Ile580ValVAR_022675
16ATP2C1p.Asp742TyrVAR_022676
17ATP2C1p.Gly789ArgVAR_022677

Expression for genes affiliated with Hailey-Hailey Disease

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Hailey-Hailey Disease

Search GEO for disease gene expression data for Hailey-Hailey Disease.

Pathways for genes affiliated with Hailey-Hailey Disease

Sources:
50PharmGKB, 12EMD Millipore, 38NCBI BioSystems Database, 30KEGG, 54Reactome, 52QIAGEN, 4Cell Signaling Technology
See all sources

Compounds for genes affiliated with Hailey-Hailey Disease

Sources:
45Novoseek, 29IUPHAR, 60Tocris Bioscience, 11DrugBank, 24HMDB, 50PharmGKB, 2BitterDB
See all sources

Compounds related to Hailey-Hailey Disease according to GeneCards/GeneDecks:

(show top 50)    (show all 53)
idCompoundScoreTop Affiliating Genes
1butyrate4510.6YY1
2alpha e4510.4CDH1, JUP
3aequorin4510.4ATP2C1, GJA1
4copper(i)4510.3ATP7B, ATP7A
5toxin a4510.1DSG1, DSG3
6ryanodine45 29 6012.1JUP, ATP2A2, DSP, GJA1
7methylcellulose4510.0IVL, CDH1, VCL
8colcemid4510.0DNAH8, VCL
9cyclopiazonic acid45 6010.9DNAH8, ATP2A2
10phosphotyrosine459.8VCL, GJA1, CDH1, JUP
11ouabain45 1110.8DNAH8, GJA1, VCL
12acyl phosphate459.7DNAH8, ATP7B, ATP7A
13nocodazole45 1110.7ATP7B, CDH1, GJA1
14progestin459.7CDH1, GJA1, SP1
15paraffin459.6GJA1, CDH3, CDH1, IVL, JUP
16vanadate459.6VCL, DNAH8, IVL
17latex459.6CDH1, GJA1, VCL
18sucrose45 11 2411.5JUP, DSP, DSG1, CDH1, GJA1, VCL
19progesterone45 60 29 11 2413.5VCL, GJA1, CDH3, CDH1, DSP
20okadaic acid45 6010.5IVL, GJA1, VCL, SP1
21retinoid459.4SP1, GJA1, CDH1, IVL
22geldanamycin45 50 60 1112.4VCL, CDH1, DNAH8
23hpvs459.4SP1, YY1
241,25 dihydroxy vitamin d3459.4SP1, GJA1, IVL
25sb 20358045 6010.4IVL, CDH1, GJA1, SP1
26paclitaxel45 50 1111.4JUP, CDH1, GJA1, SP1
27cisplatin45 50 60 1112.4JUP, ATP7A, ATP7B, CDH1, GJA1, YY1
28dmso459.3DSP, DNAH8, GJA1, SP1
29vitamin d459.3IVL, CDH1, YY1, SP1
30cyclic amp45 2410.3CDH1, GJA1, VCL, YY1, SP1
31chloramphenicol45 2 1111.1IVL, DNAH8, YY1, SP1
32etoposide45 50 60 1112.1DNAH8, CDH1, GJA1, SP1
3312-o-tetradecanoylphorbol 13-acetate459.1IVL, DSP, CDH1, GJA1, VCL, SP1
34curcumin459.1SP1, CDH1, DNAH8, IVL
35vegf459.0JUP, IVL, CDH1, GJA1, VCL, SP1
36tamoxifen45 50 29 1112.0SP1, GJA1, CDH1, DNAH8
37zinc45 249.9ATP7A, ATP7B, IVL, CDH1, YY1, SP1
38calcitriol45 60 11 2411.9IVL, DNAH8, CDH1, GJA1, SP1
39glutamine458.9SP1, VCL, CDH1, DNAH8, IVL
40atp45 299.8ATP7A, ATP7B, DNAH8, GJA1, VCL, YY1
41thapsigargin45 609.8ATP2A2, IVL, DSP, DNAH8, YY1, SP1
42adenylate458.8SP1, GJA1, CDH1, DNAH8, IVL
43estrogen458.7JUP, ATP2C1, IVL, CDH1, CDH3, GJA1
44acetylcholine45 50 29 11 2412.7DSG3, DSG1, DNAH8, GJA1, VCL, SP1
45testosterone45 60 11 2411.6SP1, VCL, GJA1, CDH1, DNAH8
46cysteine458.4ATP7B, IVL, DNAH8, CDH1, GJA1, VCL
47retinoic acid45 249.3JUP, IVL, DSP, DSG1, DNAH8, CDH1
48tyrosine458.1JUP, ATP2C1, IVL, DSP, DSG3, CDH1
49serine457.9JUP, ATP2A2, ATP7A, IVL, DSP, DSG3
50calcium45 50 11 249.7YY1, JUP, ATP2A2, ATP2C1, ATP2C2, IVL

GO Terms for genes affiliated with Hailey-Hailey Disease

Sources:
16Gene Ontology
See all sources

Cellular components related to Hailey-Hailey Disease according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1catenin complexGO:01634210.0CDH1, JUP
2fascia adherensGO:00591610.0JUP, GJA1, VCL
3intercalated discGO:01470410.0JUP, DSP, GJA1
4internal side of plasma membraneGO:0098989.9CDH1, DSG1, JUP
5cell-cell junctionGO:0059119.8VCL, DSG1, JUP
6protein-DNA complexGO:0329939.8JUP, SP1
7lateral plasma membraneGO:0163289.8JUP, DSG1, CDH1, GJA1
8trans-Golgi networkGO:0058029.6CDH1, ATP7B, ATP2C1, ATP7A
9cell-cell adherens junctionGO:0059139.6JUP, DSC2, CDH1, CDH3, VCL
10intermediate filamentGO:0058829.6JUP, DSP, GJA1
11desmosomeGO:0300579.5DSG1, DSC2, DSG3, DSP, JUP
12basolateral plasma membraneGO:0163239.5CDH1, DSP, ATP7B, ATP7A, JUP
13plasma membraneGO:0058867.9JUP, ATP7A, DSP, DSG3, DSC2, DSG1

Biological processes related to Hailey-Hailey Disease according to GeneCards/GeneDecks:

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1bundle of His cell to Purkinje myocyte communicationGO:08606910.2DSC2, DSP, JUP
2cellular response to indole-3-methanolGO:07168110.2CDH1, JUP
3regulation of ventricular cardiac muscle cell action potentialGO:08600510.2JUP, DSP, DSC2
4copper ion importGO:01567710.1ATP7B, ATP7A
5regulation of heart rate by cardiac conductionGO:08609110.1JUP, DSP, DSC2
6epidermis developmentGO:00854410.0DSP, ATP2C1, ATP2A2
7cell-cell junction organizationGO:04521610.0JUP, CDH1, CDH3
8cell junction assemblyGO:0343299.9CDH3, CDH1, JUP
9cellular copper ion homeostasisGO:0068789.9ATP7B, ATP7A
10adherens junction organizationGO:0343329.9CDH3, CDH1, DSP, JUP
11cell-cell adhesionGO:0163379.8CDH1, DSG1, DSP, JUP
12copper ion transportGO:0068259.8ATP7A, ATP7B
13trophectodermal cell differentiationGO:0018299.7SP1, CDH1
14cellular component disassembly involved in execution phase of apoptosisGO:0069219.6CDH1, DSG1, DSG3, DSP
15ion transmembrane transportGO:0342209.4ATP2A2, ATP7A, ATP2C1, ATP7B, ATP2C2
16homophilic cell adhesionGO:0071569.4DSG3, DSC2, DSG1, CDH1, CDH3
17transmembrane transportGO:0550859.2ATP2A2, ATP7A, ATP2C1, ATP7B, ATP2C2
18apoptotic processGO:0069158.8GJA1, CDH1, DSG1, DSG3, DSP

Molecular functions related to Hailey-Hailey Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1copper-exporting ATPase activityGO:00400810.0ATP7B, ATP7A
2gamma-catenin bindingGO:04529510.0CDH1, DSG1
3calcium-transporting ATPase activityGO:0053889.8ATP2C2, ATP2C1, ATP2A2
4alpha-catenin bindingGO:0452949.8VCL, JUP
5structural molecule activityGO:0051989.4JUP, IVL, DSP, VCL
6calcium ion bindingGO:0055099.0ATP2C1, DSG3, DSC2, DSG1, CDH1, CDH3

Products for genes affiliated with Hailey-Hailey Disease

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hailey-Hailey Disease

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet