MCID: HLY001
MIFTS: 53

Hailey-Hailey Disease malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Hailey-Hailey Disease

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Aliases & Descriptions for Hailey-Hailey Disease:

Name: Hailey-Hailey Disease 51 11 47 24 25 53 69 12 49 13
Benign Chronic Pemphigus 51 11 47 24 25
Pemphigus, Benign Familial 11 24 25 38
Benign Familial Pemphigus 47 25 69
Familial Benign Pemphigus 47 26 67
 
Familial Benign Chronic Pemphigus 25 53
Bcpm 47 24
Hhd 24 69
Benign Chronic Familial Pemphigus of Hailey-Hailey 53

Characteristics:

Orphanet epidemiological data:

53
hailey-hailey disease:
Inheritance: Autosomal dominant; Age of onset: Adult; Age of death: normal life expectancy

HPO:

63
hailey-hailey disease:
Inheritance: autosomal dominant inheritance

Classifications:

Orphanet: 53 
Rare skin diseases


External Ids:

OMIM51 169600
Disease Ontology11 DOID:0050429
ICD1029 Q82.8
MeSH38 D016506
SNOMED-CT61 79468000
NCIt44 C82865
Orphanet53 ORPHA2841
ICD10 via Orphanet30 Q82.8
MedGen36 C0085106

Summaries for Hailey-Hailey Disease

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NIH Rare Diseases:47 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 benign chronic 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 Secretory Pathway Ca2+ Transporting 1), and among its related pathways are Cell adhesion_Endothelial cell contacts by junctional mechanisms and E-cadherin signaling in the nascent adherens junction. Affiliated tissues include skin, testes and liver, and related mouse phenotypes are embryo and integument.

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.

OMIM:51 Hailey-Hailey disease, also known as benign chronic pemphigus, is a rare autosomal dominant cutaneous disorder that... (169600) more...

UniProtKB/Swiss-Prot:69 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 all 48)
idRelated DiseaseScoreTop Affiliating Genes
1pemphigus10.8
2darier disease10.4
3dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis10.3DSP, JUP
4growth hormone deficiency10.2DSP, JUP
5arrhythmogenic right ventricular dysplasia 810.2DSP, JUP
6dermatitis10.2
7scabies10.2
8bullous pemphigoid10.2
9herpes simplex10.2
10psoriasis10.2
11atrial standstill, digenic10.1DSC2, DSP
12pyloric antrum cancer10.0CDH1, JUP
13acrokeratosis verruciformis10.0
14pemphigus vulgaris10.0
15graves' disease10.0
16candidiasis10.0
17keratosis10.0
18syringoma10.0
19hidradenitis10.0
20contact dermatitis10.0
21genital herpes10.0
22eczema herpeticum10.0
23acute generalized exanthematous pustulosis10.0
24histiocytosis10.0DSP, JUP
25acute poisoning by drugs with membrane-stabilizing effect10.0DSG1, DSP
26cardiomyopathy, dilated, 1bb9.9DSG1, DSP
27frontotemporal dementia, right temporal atrophy variant9.9DSC2, DSP, JUP
28fixed pigmented erythema9.9DSC2, DSP, JUP
29ketamine-induced biliary dilatation9.9DSC2, DSP, JUP
30codas syndrome9.9DSC2, DSP, JUP
31ectodermal dysplasia/skin fragility syndrome9.9DSC2, DSP, JUP
32klippel-feil syndrome 29.8DSC2, DSP, JUP
33autoimmune disease of skin and connective tissue9.8DSC2, DSP, JUP
34gastric cardia carcinoma9.8DSG1, DSP
35usher syndrome9.8DSC2, DSP, JUP
36laryngeal disease9.8DSG1, DSP
37autism spectrum disorder9.8DSG1, DSP
38impetigo9.7DSG1, DSP
39subcorneal pustular dermatosis9.7DSG1, DSP
40diabetic macular edema9.7ATP2C1, DSG1, DSP
41ptosis9.6ATP2A2, DSC2
42glycogen storage disease ix9.6CDH1, CDH3, DSP
43peripheral t-cell lymphoma9.6DSG1, DSP, JUP
44cirrhotic cardiomyopathy9.5DSC2, DSG1, DSP
45puerperal pulmonary embolism9.5DSC2, DSG1
46cardiovascular disease risk factor )9.4ATP2A2, DSC2, DSP, JUP
47sed, maroteaux type8.2ATP2A2, ATP2C1, CDH1, CDH3, DSC2, DSP
48lipoma7.5ATP2A2, ATP2C1, CDH1, CDH3, DSC2, DSG1

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

Human phenotypes related to Hailey-Hailey Disease:

 63 53 (show all 8)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the oral cavity63 hallmark (90%) HP:0000163
2 hyperkeratosis63 53 hallmark (90%) Very frequent (99-80%) HP:0000962
3 abnormal blistering of the skin63 hallmark (90%) HP:0008066
4 acantholysis63 53 hallmark (90%) Very frequent (99-80%) HP:0100792
5 skin ulcer63 hallmark (90%) HP:0200042
6 erythema63 53 Very frequent (99-80%) HP:0010783
7 skin erosion53 Very frequent (99-80%)
8 skin vesicle53 Very frequent (99-80%)

UMLS symptoms related to Hailey-Hailey Disease:


coma blister

Drugs & Therapeutics for Hailey-Hailey Disease

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Drugs for Hailey-Hailey Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
AcetylcholineapprovedPhase 177651-84-3187
Synonyms:
ACh
Acetyl choline ion
Acetylcholine Chloride
Acetylcholine cation
 
Acetylcholinium: acetyl-Choline
Choline acetate
Choline acetate (ester)
O-Acetylcholine
acetylcholine chloride
2Neurotransmitter AgentsPhase 117734
3Botulinum ToxinsPhase 1669
4Cholinergic AgentsPhase 13846

Interventional clinical trials:

idNameStatusNCT IDPhase
1Evaluation of the Improvement of Quality of Life of Patients Suffering From Hailey Hailey or Darier Disease After Injections of Botulism Toxin Into Large Folds.Active, not recruitingNCT02782702Phase 1
2National Registry for Ichthyosis and Related DisordersUnknown statusNCT00074685

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 Familial Benign Pemphigus26
2 Benign Chronic Pemphigus24 ATP2C1

Anatomical Context for Hailey-Hailey Disease

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MalaCards organs/tissues related to Hailey-Hailey Disease:

35
Skin, Testes, Liver

Animal Models for Hailey-Hailey Disease or affiliated genes

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MGI Mouse Phenotypes related to Hailey-Hailey Disease:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053809.0ATP2A2, ATP2C1, CDH1, DSP, JUP
2MP: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 261)
idTitleAuthorsYear
1
Glutathione S-transferase I'-subunit as a phenotypic suppressor of pmr1I9 strain, the Kluyveromyces lactis model for Hailey-Hailey disease. (27523793)
2016
2
Hailey-Hailey disease. (27057511)
2016
3
The loss of ATP2C1 impairs the DNA damage response and induces altered skin homeostasis: Consequences for epidermal biology in Hailey-Hailey disease. (27528123)
2016
4
A three-dimensional inA vitro culture model of Hailey-Hailey disease. (26121994)
2015
5
Sibling cases of hailey-hailey disease showing atypical clinical features and unique disease course. (24352221)
2014
6
Combined therapeutic use of oral alitretinoin and narrowband ultraviolet-B therapy in the treatment of hailey-hailey disease. (25386331)
2014
7
Mutation-dependent effects on mRNA and protein expressions in cultured keratinocytes of Hailey-Hailey disease. (24698124)
2014
8
Remission of refractory benign familial chronic pemphigus (hailey-hailey disease) with the addition of systemic cyclosporine. (25278261)
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
A novel splice mutation in the ATP2C1 gene in a woman with concomitant psoriasis vulgaris and disseminated Hailey-Hailey disease. (22788811)
2012
13
Effective treatment of Hailey-Hailey disease with a long-pulsed (5 ms) alexandrite laser. (21692642)
2011
14
Bullous Darier's disease mimicking Hailey-Hailey disease. (22984662)
2011
15
Familial benign chronic pemphigus (Hailey-Hailey disease). (21163165)
2010
16
Dermoscopy of longitudinal leukonychia in Hailey-Hailey disease. (20956678)
2010
17
Methotrexate for refractory Hailey-Hailey disease. (19627406)
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
Diagnosis of Hailey-Hailey disease facilitated by DNA testing: a novel mutation in ATP2C1. (18709316)
2008
22
Longitudinal leukonychia in Hailey-Hailey Disease: a sign not to be missed. (18627718)
2008
23
Hailey-hailey disease: a novel method of management by radiofrequency surgery. (20300352)
2008
24
Fixed and soluble immune complexes in the epidermis in Hailey-Hailey disease. (17535412)
2007
25
Mutations in the ATP2C1 gene in Chinese patients with Hailey-Hailey disease. (16901313)
2006
26
Aminoglycosides as potential pharmacogenetic agents in the treatment of Hailey-Hailey disease. (16417242)
2006
27
Anaesthesia in patient with Hailey-Hailey disease. (16674646)
2006
28
Hailey-Hailey disease responsive to topical calcitriol. (15840130)
2005
29
Hailey-Hailey disease exacerbated by scabies. (15863873)
2005
30
Calcium pumps and keratinocytes: lessons from Darier's disease and Hailey-Hailey disease. (15149492)
2004
31
Allelic loss underlies type 2 segmental Hailey-Hailey disease, providing molecular confirmation of a novel genetic concept. (15545997)
2004
32
Smoothbeam laser treatment may help improve hidradenitis suppurativa but not Hailey-Hailey disease. (15545102)
2004
33
Effective treatment of Hailey-Hailey disease with topical tacrolimus. (12399782)
2002
34
Mutations of ATP2C1 in Japanese patients with Hailey-Hailey disease: intrafamilial and interfamilial phenotype variations and lack of correlation with mutation patterns. (11886536)
2001
35
Squamous cell carcinoma arising in Hailey-Hailey disease of the vulva. (10735968)
2000
36
Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease. (10615129)
2000
37
Successful treatment of Hailey-Hailey disease with a scanned carbon dioxide laser. (10721838)
2000
38
Treatment of Hailey-Hailey disease (or benign familial pemphigus) using short pulsed and short dwell time carbon dioxide lasers. (10491050)
1999
39
Conjunctival involvement in familial chronic benign pemphigus (Hailey-Hailey disease). (9169328)
1997
40
The simultaneous occurrence of Hailey-Hailey disease, Graves' disease and multiple sclerosis in the same patient. (9228239)
1997
41
Hailey-Hailey disease with acrokeratosis verruciformis Hopf. (8740277)
1996
42
Treatment of Hailey-Hailey disease by dermabrasion. (8496429)
1993
43
Dermabrasion of Hailey-Hailey disease and Darier's disease. (1619066)
1992
44
Familial benign chronic pemphigus (Hailey-Hailey disease). Treatment with carbon dioxide laser vaporization. (1575528)
1992
45
Familial benign chronic pemphigus (Hailey-Hailey disease) and contact allergies. (2145330)
1990
46
Carbon dioxide laser vaporization of recalcitrant symptomatic plaques of Hailey-Hailey disease and Darier's disease. (2123894)
1990
47
Wide excision of perineal Hailey-Hailey disease with healing by secondary intention. (2702374)
1989
48
Surgical management of familial benign chronic pemphigus (Hailey-Hailey disease) by excision and primary closure. (7096674)
1982
49
Generalized Hailey-Hailey disease. (708629)
1978
50
Hailey-hailey disease--an electron microcopic study. (5440021)
1970

Variations for Hailey-Hailey Disease

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

69 (show all 17)
id Symbol AA change Variation ID SNP ID
1ATP2C1p.Ala304ThrVAR_008803rs137853012
2ATP2C1p.Leu318ProVAR_008804
3ATP2C1p.Met641ArgVAR_008805
4ATP2C1p.Gly645ArgVAR_008806
5ATP2C1p.Thr709MetVAR_008807rs778865612
6ATP2C1p.Pro744ArgVAR_008808
7ATP2C1p.Pro201LeuVAR_010130
8ATP2C1p.Cys344TyrVAR_010131
9ATP2C1p.Thr570IleVAR_010132
10ATP2C1p.Cys490PheVAR_019523rs137853014
11ATP2C1p.Leu584ProVAR_019524rs137853015
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, 767CCCTinsertionPathogenicChr na, -1: -1
2ATP2C1NM_001001486.1(ATP2C1): c.910G> A (p.Ala304Thr)SNVPathogenicrs137853012GRCh37Chr 3, 130682825: 130682825
3ATP2C1NM_001001486.1(ATP2C1): c.1402C> T (p.Arg468Ter)SNVPathogenicrs137853013GRCh37Chr 3, 130688229: 130688229
4ATP2C1ATP2C1, 4-BP DEL, 2374TTTGdeletionPathogenicChr na, -1: -1
5ATP2C1ATP2C1, IVS11, G-A, -1SNVPathogenicChr na, -1: -1
6ATP2C1NM_001001486.1(ATP2C1): c.1469G> T (p.Cys490Phe)SNVPathogenicrs137853014GRCh37Chr 3, 130694231: 130694231
7ATP2C1ATP2C1, 1-BP DEL, 2460GdeletionPathogenicChr na, -1: -1
8ATP2C1NM_001001486.1(ATP2C1): c.1751T> C (p.Leu584Pro)SNVPathogenicrs137853015GRCh37Chr 3, 130699435: 130699435
9ATP2C1ATP2C1, IVS22, G-A, +1SNVPathogenicChr na, -1: -1

Copy number variations for Hailey-Hailey Disease from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
11683373129200000133700000LossATP2C1Hailey-hailey disease

Expression for genes affiliated with Hailey-Hailey Disease

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

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
1fascia adherensGO:00059169.9DSP, JUP
2catenin complexGO:00163429.8CDH1, JUP
3intercalated discGO:00147049.1DSC2, DSP, JUP
4cell-cell junctionGO:00059119.1DSG1, DSP, JUP
5extracellular matrixGO:00310128.9DSG1, DSP, JUP
6cytoplasmic side of plasma membraneGO:00098988.8CDH1, DSG1, JUP
7lateral plasma membraneGO:00163288.6CDH1, DSG1, JUP
8desmosomeGO:00300578.2DSC2, DSG1, DSP, JUP
9cell-cell adherens junctionGO:00059138.1CDH1, CDH3, DSC2, JUP

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1establishment of protein localization to plasma membraneGO:00900029.9CDH1, JUP
2skin developmentGO:00435889.9DSP, JUP
3cellular response to indole-3-methanolGO:00716819.8CDH1, JUP
4calcium-dependent cell-cell adhesion via plasma membrane cell adhesion moleculesGO:00163399.7ATP2C1, DSG1
5epidermis developmentGO:00085449.7ATP2A2, ATP2C1, DSP
6bundle of His cell-Purkinje myocyte adhesion involved in cell communicationGO:00860739.2DSC2, DSP, JUP
7regulation of heart rate by cardiac conductionGO:00860919.1DSC2, DSP, JUP
8adherens junction organizationGO:00343328.8CDH1, CDH3, DSP, JUP
9regulation of ventricular cardiac muscle cell action potentialGO:00989118.8DSC2, DSP, JUP
10cell adhesionGO:00071558.6ATP2A2, CDH3, DSC2, JUP
11homophilic cell adhesion via plasma membrane adhesion moleculesGO:00071567.9CDH1, CDH3, DSC2, DSG1
12single organismal cell-cell adhesionGO:00163377.9CDH1, CDH3, DSG1, DSP, JUP

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

idNameGO IDScoreTop Affiliating Genes
1calcium-transporting ATPase activityGO:000538810.3ATP2A2, ATP2C1
2gamma-catenin bindingGO:00452959.4CDH1, DSG1
3cell adhesion molecule bindingGO:00508399.4CDH1, DSP, JUP
4cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communicationGO:00860839.1DSC2, DSP, JUP
5calcium ion bindingGO:00055097.3ATP2A2, CDH1, CDH3, DSC2, DSG1

Sources for Hailey-Hailey Disease

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet