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 50 11 46 23 24 13 52 68 12 48
Benign Chronic Pemphigus 50 11 46 23 24
Pemphigus, Benign Familial 11 23 24 37
Benign Familial Pemphigus 46 24 68
Familial Benign Pemphigus 46 25 66
 
Familial Benign Chronic Pemphigus 24 52
Bcpm 46 23
Hhd 23 68
Benign Chronic Familial Pemphigus of Hailey-Hailey 52

Characteristics:

Orphanet epidemiological data:

52
hailey-hailey disease:
Inheritance: Autosomal dominant; Age of onset: Adult; Age of death: normal life expectancy

HPO:

62
hailey-hailey disease:
Inheritance: autosomal dominant inheritance


Classifications:

Orphanet: 52 
Rare skin diseases


External Ids:

OMIM50 169600
Disease Ontology11 DOID:0050429
ICD1028 Q82.8
MeSH37 D016506
SNOMED-CT60 79468000
NCIt43 C82865
Orphanet52 ORPHA2841
ICD10 via Orphanet29 Q82.8
MedGen35 C0085106

Summaries for Hailey-Hailey Disease

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NIH Rare Diseases:46 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 Arf6 trafficking events. Affiliated tissues include skin, breast and testes, and related mouse phenotypes are embryo and integument.

UniProtKB/Swiss-Prot:68 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.

Genetics Home Reference:24 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:50 Hailey-Hailey disease, also known as benign chronic pemphigus, is a rare autosomal dominant cutaneous disorder that... (169600) more...

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 51)
idRelated DiseaseScoreTop Affiliating Genes
1pemphigus10.9
2darier disease10.4
3dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis10.3DSP, JUP
4growth hormone deficiency10.3DSP, JUP
5dermatitis10.3
6scabies10.3
7bullous pemphigoid10.3
8herpes simplex10.3
9psoriasis10.3
10arrhythmogenic right ventricular dysplasia 810.3DSP, JUP
11acute poisoning by drugs with membrane-stabilizing effect10.3DSG1, DSP
12cardiomyopathy, dilated, 1bb10.2DSG1, DSP
13gastric cardia carcinoma10.2DSG1, DSP
14acrokeratosis verruciformis10.1
15pemphigus vulgaris10.1
16graves' disease10.1
17candidiasis10.1
18keratosis10.1
19melanoma10.1
20syringoma10.1
21hidradenitis suppurativa10.1
22hidradenitis10.1
23contact dermatitis10.1
24genital herpes10.1
25eczema herpeticum10.1
26acute generalized exanthematous pustulosis10.1
27laryngeal disease10.1DSG1, DSP
28autism spectrum disorder10.1DSG1, DSP
29histiocytosis10.0DSP, JUP
30impetigo10.0DSG1, DSP
31pyloric antrum cancer10.0CDH1, JUP
32subcorneal pustular dermatosis10.0DSG1, DSP
33diabetic macular edema9.9ATP2C1, DSG1, DSP
34atrial standstill, digenic9.9DSC2, DSP
35amyotrophic lateral sclerosis type 49.9CDH1, CDH3
36peripheral t-cell lymphoma9.9DSG1, DSP, JUP
37glycogen storage disease ix9.6CDH1, CDH3, DSP
38frontotemporal dementia, right temporal atrophy variant9.6DSC2, DSP, JUP
39fixed pigmented erythema9.6DSC2, DSP, JUP
40ketamine-induced biliary dilatation9.6DSC2, DSP, JUP
41codas syndrome9.6DSC2, DSP, JUP
42ectodermal dysplasia/skin fragility syndrome9.6DSC2, DSP, JUP
43klippel-feil syndrome 29.6DSC2, DSP, JUP
44autoimmune disease of skin and connective tissue9.6DSC2, DSP, JUP
45usher syndrome9.5DSC2, DSP, JUP
46cirrhotic cardiomyopathy9.5DSC2, DSG1, DSP
47puerperal pulmonary embolism9.4DSC2, DSG1
48ptosis9.3ATP2A2, DSC2
49cardiovascular disease risk factor )9.1ATP2A2, DSC2, DSP, JUP
50sed, maroteaux type7.8ATP2A2, ATP2C1, CDH1, CDH3, DSC2, DSP

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:

 52
  • hyperkeratosis
  • erythema
  • acantholysis
  • skin erosion
  • skin vesicle

HPO human phenotypes related to Hailey-Hailey Disease:

(show all 6)
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 erythema HP:0010783

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
AcetylcholinePhase 175251-84-3187
Synonyms:
ACh
Acetyl choline ion
Acetylcholine Chloride
Acetylcholine cation
 
Acetylcholinium: acetyl-Choline
Choline acetate
Choline acetate (ester)
O-Acetylcholine
acetylcholine chloride

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 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 Familial Benign Pemphigus25
2 Benign Chronic Pemphigus23 ATP2C1

Anatomical Context for Hailey-Hailey Disease

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MalaCards organs/tissues related to Hailey-Hailey Disease:

34
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:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053808.3ATP2A2, ATP2C1, CDH1, DSP, JUP
2MP:00107717.4ATP2A2, 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 258)
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:

68 (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, 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

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.

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
1fascia adherensGO:000591610.0DSP, JUP
2catenin complexGO:00163429.8CDH1, JUP
3extracellular matrixGO:00310129.4DSG1, DSP, JUP
4cytoplasmic side of plasma membraneGO:00098989.2CDH1, DSG1, JUP
5intercalated discGO:00147048.9DSC2, DSP, JUP
6lateral plasma membraneGO:00163288.9CDH1, DSG1, JUP
7cell-cell junctionGO:00059118.8DSG1, DSP, 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
1skin developmentGO:004358810.0DSP, JUP
2establishment of protein localization to plasma membraneGO:00900029.9CDH1, JUP
3calcium-dependent cell-cell adhesion via plasma membrane cell adhesion moleculesGO:00163399.9ATP2C1, DSG1
4cellular response to indole-3-methanolGO:00716819.8CDH1, JUP
5epidermis developmentGO:00085449.8ATP2A2, ATP2C1, DSP
6bundle of His cell-Purkinje myocyte adhesion involved in cell communicationGO:00860739.0DSC2, DSP, JUP
7regulation of ventricular cardiac muscle cell action potentialGO:00989118.9DSC2, DSP, JUP
8regulation of heart rate by cardiac conductionGO:00860918.9DSC2, DSP, JUP
9adherens junction organizationGO:00343328.9CDH1, CDH3, DSP, JUP
10single organismal cell-cell adhesionGO:00163378.3CDH1, CDH3, DSG1, DSP, JUP
11cell adhesionGO:00071558.2ATP2A2, CDH3, DSC2, JUP
12homophilic cell adhesion via plasma membrane adhesion moleculesGO:00071568.0CDH1, CDH3, DSC2, DSG1

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:00452959.6CDH1, DSG1
3cell adhesion molecule bindingGO:00508399.2CDH1, DSP, JUP
4cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communicationGO:00860838.9DSC2, DSP, JUP
5calcium ion bindingGO:00055097.6ATP2A2, CDH1, CDH3, DSC2, DSG1

Sources for Hailey-Hailey Disease

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet