MCID: HLY001
MIFTS: 51

Hailey-Hailey Disease malady

Genetic diseases, Rare diseases, Skin diseases categories

Aliases & Classifications for Hailey-Hailey Disease

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Aliases & Descriptions for Hailey-Hailey Disease:

Name: Hailey-Hailey Disease 49 10 11 45 22 23 47 12 51 67
Familial Benign Pemphigus 45 22 24 65
Benign Chronic Pemphigus 10 45 22 23
Pemphigus, Benign Familial 10 23 36
Benign Familial Pemphigus 45 23 67
 
Familial Benign Chronic Pemphigus 23 51
Bcpm 45 22
Hhd 22 67
Benign Chronic Familial Pemphigus of Hailey-Hailey 51


Classifications:

Orphanet: 51 
Rare skin diseases


Characteristics (Orphanet epidemiological data):

51
hailey-hailey disease:
Inheritance: Autosomal dominant; Age of onset: Adult; Age of death: normal life expectancy


External Ids:

OMIM49 169600
Disease Ontology10 DOID:0050429
MeSH36 D016506
Orphanet51 2841
ICD10 via Orphanet28 Q82.8
MedGen34 C0085106

Summaries for Hailey-Hailey Disease

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NIH Rare Diseases:45 Hailey-hailey disease is a hereditary blistering skin disease. 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. last updated: 5/14/2014

MalaCards based summary: Hailey-Hailey Disease, also known as familial benign pemphigus, is related to pemphigus and darier disease, and has symptoms including abnormality of the oral cavity, hyperkeratosis and abnormal blistering of the skin. An important gene associated with Hailey-Hailey Disease is ATP2C1 (ATPase, Ca++ Transporting, Type 2C, Member 1), and among its related pathways are Ion transport by P-type ATPases and Cell adhesion_Endothelial cell contacts by junctional mechanisms. Affiliated tissues include skin, breast and testes, and related mouse phenotype integument.

Genetics Home Reference:23 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.

OMIM:49 Hailey-Hailey disease, also known as benign chronic pemphigus, is a rare autosomal dominant cutaneous disorder that... (169600) more...

UniProtKB/Swiss-Prot:67 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.

Related Diseases for Hailey-Hailey Disease

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

(show top 50)    (show all 53)
idRelated DiseaseScoreTop Affiliating Genes
1pemphigus11.1
2darier disease10.6
3bullous pemphigoid10.5
4dermatitis10.5
5herpes simplex10.5
6psoriasis10.5
7scabies10.5
8acrokeratosis verruciformis10.3
9pemphigus vulgaris10.3
10hidradenitis suppurativa10.3
11graves' disease10.3
12eczema herpeticum10.3
13syringoma10.3
14genital herpes10.3
15candidiasis10.3
16contact dermatitis10.3
17hidradenitis10.3
18keratosis10.3
19melanoma10.3
20supernumerary nipples10.3
21epidermolysis bullosa, lethal acantholytic10.1DSP, JUP
22cardiomyopathy, dilated, with woolly hair and keratoderma10.1DSP, JUP
23braddock syndrome10.1DSG1, DSP
24tsh producing pituitary tumor10.1DSG1, DSP
25dendritic cell thymoma10.0DSG1, DSP
26chronic erythremia10.0CDH1, JUP
27autoimmune disease of the nervous system10.0DSG1, DSP
28hypertropia10.0DSG1, DSP
29pneumonic tularemia10.0CDH1, CDH3
30balloon cell malignant melanoma10.0DSG1, JUP
31bursitis9.9DSG1, DSP
32pancoast tumor9.9DSG1, DSP, JUP
33hereditary myopathy with intranuclear filamentous9.9CDH1, DSG1, JUP
34hair follicle neoplasm9.9CDH3, DSG1, DSP
35asphyxiating thoracic dystrophy9.8CDH1, CDH3, DSP
36familial isolated arrhythmogenic ventricular dysplasia, left dominant form9.8DSC2, DSP, JUP
37right temporal lobar atrophy9.8DSC2, DSP, JUP
38hereditary retinal dystrophy9.8DSC2, DSG1
39mitf-related melanoma and renal cell carcinoma predisposition syndrome9.8DSC2, DSP, JUP
40hypercholesterolemia, familial9.8DSC2, DSP, JUP
41ectodermal dysplasia/skin fragility syndrome9.8DSC2, DSP, JUP
42arrhythmogenic right ventricular dysplasia 129.8DSC2, DSP, JUP
43alcoholic psychosis9.8ATP2C1, DSG1, DSP, JUP
44small intestine lymphoma9.8ATP2A2, ATP2C1, DSG1, DSP
45bullous systemic lupus erythematosus9.8CDH1, CDH3, DSG1
46familial partial lipodystrophy9.8DSC2, DSP, JUP
47invasive bladder transitional cell carcinoma9.8DSC2, DSP, JUP
48ichthyosis - hypotrichosis - sclerosing cholangitis9.8DSC2, DSG1, DSP
49diffuse idiopathic pulmonary neuroendocrine cell hyperplasia9.8CDH1, CDH3
50peri-anal fistula9.8CDH1, DSG1, DSP, JUP

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



Diseases related to hailey-hailey disease

Symptoms for Hailey-Hailey Disease

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Symptoms by clinical synopsis from OMIM:

169600

Clinical features from OMIM:

169600

Symptoms:

 51
  • hyperkeratosis/ainhum/hyperkeratotic skin fissures
  • chronic skin infection/ulcerations/ulcers/cancrum
  • vesicles/bullous/exsudative lesions/bullous/cutaneous/mucosal detachment
  • positive nikolski's sign/achantolysis
  • enanthema/aphtosa/aphta/leukoplakia
  • autosomal dominant inheritance

HPO human phenotypes related to Hailey-Hailey Disease:

(show all 7)
id Description Frequency HPO Source Accession
1 abnormality of the oral cavity hallmark (90%) HP:0000163
2 hyperkeratosis hallmark (90%) HP:0000962
3 abnormal blistering of the skin hallmark (90%) HP:0008066
4 acantholysis hallmark (90%) HP:0100792
5 skin ulcer hallmark (90%) HP:0200042
6 autosomal dominant inheritance HP:0000006
7 erythema HP:0010783

Drugs & Therapeutics for Hailey-Hailey Disease

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Interventional clinical trials:

idNameStatusNCT IDPhase
1National Registry for Ichthyosis and Related DisordersActive, not recruitingNCT00074685

Search NIH Clinical Center for Hailey-Hailey Disease


Cochrane evidence based reviews: Pemphigus, Benign Familial

Genetic Tests for Hailey-Hailey Disease

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Genetic tests related to Hailey-Hailey Disease:

id Genetic test Affiliating Genes
1 Benign Chronic Pemphigus22 ATP2C1
2 Familial Benign Pemphigus24

Anatomical Context for Hailey-Hailey Disease

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MalaCards organs/tissues related to Hailey-Hailey Disease:

33
Skin, Breast, Testes, Liver

Animal Models for Hailey-Hailey Disease or affiliated genes

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MGI Mouse Phenotypes related to Hailey-Hailey Disease:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107717.7ATP2A2, ATP2C1, CDH1, CDH3, DSP, JUP

Publications for Hailey-Hailey Disease

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Articles related to Hailey-Hailey Disease:

(show top 50)    (show all 242)
idTitleAuthorsYear
1
The forgotten yeast model of Hailey-Hailey disease. (26517976)
2015
2
A recurrent melanocytic nevus phenomenon in the setting of Hailey-Hailey disease. (25950447)
2015
3
A novel deletion mutation of the ATP2C1 gene in a family with Hailey-Hailey disease. (26242806)
2015
4
Hailey-Hailey disease. (25101346)
2014
5
The ATP2C1 gene in Hailey-Hailey disease patients: one novel deletion and one novel splicing mutation. (24981372)
2014
6
Sibling cases of hailey-hailey disease showing atypical clinical features and unique disease course. (24352221)
2014
7
Reflectance confocal microscopy and Hailey-Hailey disease: assessment of response to treatment after CO2 laser ablation. (25482702)
2014
8
Combined therapeutic use of oral alitretinoin and narrowband ultraviolet-B therapy in the treatment of hailey-hailey disease. (25386331)
2014
9
Six novel mutations of ATP2C1 identified in eight Chinese patients with Hailey-Hailey disease. (23442470)
2013
10
Papular acantholytic dermatosis in the genito-crural region: a localized form of darier disease or hailey-hailey disease? (22995947)
2013
11
Hailey-hailey disease treated with topical tacalcitol. (24003293)
2013
12
Hailey-Hailey disease treated with methotrexate. (22826719)
2012
13
Analysis of ATP2C1 gene mutations in Chinese patients with Hailey-Hailey disease. (21883398)
2012
14
Effective treatment of Hailey-Hailey disease with a long-pulsed (5 ms) alexandrite laser. (21692642)
2011
15
Familial benign chronic pemphigus (Hailey-Hailey disease). (21163165)
2010
16
Hailey-Hailey disease treatment with Botulinum toxin type A. (21152802)
2010
17
Dermoscopy of longitudinal leukonychia in Hailey-Hailey disease. (20956678)
2010
18
A novel mutation in the ATP2C1 gene is associated with Hailey-Hailey disease in a Chinese family. (19126050)
2009
19
Acantholytic dermatosis of the crural folds with ATP2C1 mutation is a possible variant of Hailey-Hailey Disease. (19426624)
2009
20
Three novel ATP2C1 mutations in Chinese patients with Hailey-Hailey disease. (18205868)
2008
21
Fixed and soluble immune complexes in the epidermis in Hailey-Hailey disease. (17535412)
2007
22
Eight novel mutations of ATP2C1 identified in 17 Chinese families with Hailey-Hailey disease. (17911984)
2007
23
Human papillomavirus type 5 infection in a patient with Hailey-Hailey disease successfully treated with imiquimod. (17300256)
2007
24
Disseminated Hailey-Hailey disease treated with topical tacrolimus and oral erythromycin: Case report and review of the literature. (17311740)
2006
25
Presence of human papillomavirus type 6 DNA in the perineal verrucoid lesions of Hailey-Hailey disease. (17062074)
2006
26
Mutations in the ATP2C1 gene in Chinese patients with Hailey-Hailey disease. (16901313)
2006
27
Aminoglycosides as potential pharmacogenetic agents in the treatment of Hailey-Hailey disease. (16417242)
2006
28
Hailey-Hailey disease responsive to topical calcitriol. (15840130)
2005
29
Topical tacrolimus in Hailey-Hailey disease. (16440577)
2005
30
Hailey-Hailey disease: identification of novel mutations in ATP2C1 and effect of missense mutation A528P on protein expression levels. (15191544)
2004
31
Yeast researchers consider Hailey-Hailey disease. (15610504)
2004
32
Calcium pumps and keratinocytes: lessons from Darier's disease and Hailey-Hailey disease. (15149492)
2004
33
Allelic loss underlies type 2 segmental Hailey-Hailey disease, providing molecular confirmation of a novel genetic concept. (15545997)
2004
34
Four novel mutations in ATP2C1 found in Chinese patients with Hailey-Hailey disease. (14510977)
2003
35
Hailey-Hailey disease: molecular and clinical characterization of novel mutations in the ATP2C1 gene. (11841554)
2002
36
Hailey-Hailey disease: exacerbation by scabies. (11167724)
2001
37
Human papillomavirus types 16 and 39 in a vulval carcinoma occurring in a woman with Hailey-Hailey disease. (10233276)
1999
38
Efficacy of erbium:YAG laser ablation in Darier disease and Hailey-Hailey disease. (10206049)
1999
39
Conjunctival involvement in familial chronic benign pemphigus (Hailey-Hailey disease). (9169328)
1997
40
Hailey-Hailey disease with acrokeratosis verruciformis Hopf. (8740277)
1996
41
Narrowing of the Hailey-Hailey disease gene region on chromosome 3q and identification of one kindred with a deletion in this region. (8595906)
1995
42
Successful management of Hailey-Hailey disease with potent topical steroid ointment. (8241075)
1993
43
Dermabrasion of Hailey-Hailey disease and Darier's disease. (1619066)
1992
44
Hailey-Hailey disease. Report of a case treated surgically. (7030648)
1981
45
Surgical management of Hailey-Hailey disease: report of a case. (7410688)
1980
46
Generalized Hailey-Hailey disease. (708629)
1978
47
Familial benign chronic pemphigus (Hailey-Hailey disease). (993398)
1976
48
Hailey-Hailey disease in a black family. (4639937)
1972
49
Hailey-hailey disease--an electron microcopic study. (5440021)
1970
50
Surgical treatment of familial chronic pemphigus (Hailey-Hailey disease). Report of a case. (5684227)
1968

Variations for Hailey-Hailey Disease

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UniProtKB/Swiss-Prot genetic disease variations for Hailey-Hailey Disease:

67 (show all 17)
id Symbol AA change Variation ID 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

Clinvar genetic disease variations for Hailey-Hailey Disease:

5
id Gene Variation Type Significance SNP ID Assembly Location
1ATP2C1ATP2C1, 4-BP INS, 767CCCTinsertionPathogenic
2ATP2C1NM_001001486.1(ATP2C1): c.910G> A (p.Ala304Thr)single nucleotide variantPathogenicrs137853012GRCh37Chr 3, 130682825: 130682825
3ATP2C1NM_001001486.1(ATP2C1): c.1402C> T (p.Arg468Ter)single nucleotide variantPathogenicrs137853013GRCh37Chr 3, 130688229: 130688229
4ATP2C1ATP2C1, 4-BP DEL, 2374TTTGdeletionPathogenic
5ATP2C1ATP2C1, IVS11, G-A, -1single nucleotide variantPathogenic
6ATP2C1NM_001001486.1(ATP2C1): c.1469G> T (p.Cys490Phe)single nucleotide variantPathogenicrs137853014GRCh37Chr 3, 130694231: 130694231
7ATP2C1ATP2C1, 1-BP DEL, 2460GdeletionPathogenic
8ATP2C1NM_001001486.1(ATP2C1): c.1751T> C (p.Leu584Pro)single nucleotide variantPathogenicrs137853015GRCh37Chr 3, 130699435: 130699435
9ATP2C1ATP2C1, IVS22, G-A, +1single nucleotide variantPathogenic

Expression for genes affiliated with Hailey-Hailey Disease

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

Pathways for genes affiliated with Hailey-Hailey Disease

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GO Terms for genes affiliated with Hailey-Hailey Disease

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Cellular components related to Hailey-Hailey Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1catenin complexGO:00163429.9CDH1, JUP
2cell-cell junctionGO:00059119.5DSG1, DSP, JUP
3cell-cell adherens junctionGO:00059139.4CDH1, CDH3, JUP
4cytoplasmic side of plasma membraneGO:00098989.4CDH1, DSG1, JUP
5lateral plasma membraneGO:00163289.3CDH1, DSG1
6intercalated discGO:00147049.0ATP2A2, DSC2, DSP, JUP
7desmosomeGO:00300578.5DSC2, DSG1, DSP, JUP
8membraneGO:00160206.5ATP2A2, ATP2C1, CDH1, CDH3, DSC2, DSG1

Biological processes related to Hailey-Hailey Disease according to GeneCards Suite gene sharing:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1calcium-dependent cell-cell adhesion via plasma membrane cell adhesion moleculesGO:001633910.1ATP2C1, DSG1
2cellular response to indole-3-methanolGO:00716819.9CDH1, JUP
3establishment of protein localization to plasma membraneGO:00900029.9CDH1, JUP
4epidermis developmentGO:00085449.8ATP2A2, ATP2C1, DSP
5skin developmentGO:00435889.6DSP, JUP
6bundle of His cell-Purkinje myocyte adhesion involved in cell communicationGO:00860739.4DSC2, DSP, JUP
7regulation of ventricular cardiac muscle cell action potentialGO:00989119.4DSC2, DSP, JUP
8regulation of heart rate by cardiac conductionGO:00860919.3DSC2, DSP, JUP
9cell junction assemblyGO:00343299.3CDH1, CDH3, JUP
10cell-cell junction organizationGO:00452169.3CDH1, CDH3, JUP
11cellular component disassembly involved in execution phase of apoptosisGO:00069219.2CDH1, DSG1, DSP
12programmed cell deathGO:00125019.2CDH1, DSG1, DSP
13adherens junction organizationGO:00343328.9CDH1, CDH3, DSP, JUP
14single organismal cell-cell adhesionGO:00163378.1CDH1, CDH3, DSG1, DSP, JUP
15homophilic cell adhesion via plasma membrane adhesion moleculesGO:00071568.1CDH1, CDH3, DSC2, DSG1
16cell adhesionGO:00071556.9ATP2A2, CDH1, CDH3, DSC2, DSG1, JUP

Molecular functions related to Hailey-Hailey Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1calcium-transporting ATPase activityGO:000538810.2ATP2A2, ATP2C1
2gamma-catenin bindingGO:00452959.7CDH1, DSG1
3cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communicationGO:00860839.4DSC2, DSP, JUP
4cell adhesion molecule bindingGO:00508399.4CDH1, DSP, JUP
5calcium ion bindingGO:00055097.3ATP2A2, ATP2C1, CDH1, CDH3, DSC2, DSG1

Sources for Hailey-Hailey Disease

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet