BCPM
MCID: HLY001
MIFTS: 68

Hailey-Hailey Disease (BCPM) malady

Skin diseases, Genetic diseases categories

Summaries for Hailey-Hailey Disease

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21Genetics Home Reference, 42NIH Rare Diseases, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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 positive nikolski's sign/achantolysis, enanthema/aphtosa/aphta/leukoplakia and vesicles/bullous/exsudative lesions/bullous/cutaneous/mucosal detachment. 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, breast and testes, 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:46 169600

Aliases & Classifications for Hailey-Hailey Disease

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8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 20GeneTests, 22GTR, 60UMLS, 34MeSH, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
hailey-hailey disease:
Inheritance: Autosomal dominant; Age of onset: Adulthood; Age of death: Normal


Aliases & Descriptions:

hailey-hailey disease 8 9 42 21 46 10 44 48
benign chronic pemphigus 8 42 20 21
familial benign pemphigus 42 22 60
familial benign chronic pemphigus 21 48
pemphigus, benign familial 8 21
benign familial pemphigus 42 21
benign chronic familial pemphigus of hailey-hailey 48
bcpm 42


External Ids:

Disease Ontology8 DOID:0050429
OMIM46 169600
MeSH34 D016506
SNOMED-CT via Orphanet57 79468000
ICD10 via Orphanet26 Q82.8

Related Diseases for Hailey-Hailey Disease

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17GeneCards, 18GeneDecks
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Diseases related to Hailey-Hailey Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 89)
idRelated DiseaseScoreTop Affiliating Genes
1pemphigus31.4JUP, DSP, CDH3, DSG1, DSG3
2squamous cell carcinoma30.8DSP, IVL, ATP7B, ATP2A2, JUP, DSG3
3skin disease30.7ATP2A2, ATP2C1, IVL, DSP, DSG3, DSG1
4bullous pemphigoid30.4DSP
5psoriasis30.4CDH3, IVL
6keratosis30.4DSP, IVL, JUP
7dermatitis30.4IVL, DSG3, DSG1
8keratosis follicularis30.4ATP2A2, ATP2C1, DNAH8
9melanoma30.3JUP, DSG1, DNAH8, CDH1, CDH3, GJA1
10chromosomal disease10.5
11herpes simplex10.4
12scabies10.4
13genital herpes10.3
14eczema herpeticum10.3
15hidradenitis suppurativa10.3
16syringoma10.3
17acrokeratosis verruciformis10.3
18graves' disease10.3
19candidiasis10.3
20conjunctival disease10.3
21hidradenitis10.3
22liver disease10.3
23multiple sclerosis10.3
24vulva squamous cell carcinoma10.3
25epidermolysis bullosa10.0DSP
26hypertrophic cardiomyopathy10.0ATP2C1
27palmoplantar keratosis10.0DSG1
28pemphigus vegetans10.0DSG1
29bullous impetigo10.0DSG1
30subcorneal pustular dermatosis10.0DSG1
31silicosis10.0DSG1
32chordoma10.0JUP
33naxos disease10.0DSP, JUP
34ritter's disease10.0DSG1
35cardiomyopathy dilated with woolly hair and keratoderma10.0JUP, DSP
36keratoderma10.0DSP, DSG1
37pemphigus erythematosus10.0DSP, DSG3
38keratoacanthoma10.0DSG3, IVL
39lichen planus10.0DSG3, IVL
40papilloma10.0IVL, GJA1
41hereditary diffuse gastric cancer10.0CDH1
42bullous skin disease10.0DSG1, DSG3
43bowen syndrome10.0JUP, IVL
44arrhythmogenic right ventricular dysplasia10.0DSC2, DSP, JUP
45colon adenocarcinoma10.0JUP, CDH1
46meningioma10.0JUP, DSP
47gastroesophageal reflux disease10.0DNAH8
48hypertension10.0DNAH8
49basal cell carcinoma10.0JUP, IVL, CDH3
50pemphigus foliaceus10.0IVL, DSG3, DSG1

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



Diseases related to hailey-hailey disease

Clinical Features for Hailey-Hailey Disease

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46OMIM, 48Orphanet
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Clinical features from OMIM:

169600

Clinical synopsis from OMIM:

169600

Symptoms:

48
  • positive nikolski's sign/achantolysis
  • enanthema/aphtosa/aphta/leukoplakia
  • vesicles/bullous/exsudative lesions/bullous/cutaneous/mucosal detachment
  • chronic skin infection/ulcerations/ulcers/cancrum
  • hyperkeratosis/ainhum/hyperkeratotic skin fissures
  • autosomal dominant inheritance

Drugs & Therapeutics for Hailey-Hailey Disease

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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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

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20GeneTests, 22GTR
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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

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32MalaCards
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MalaCards organs/tissues related to Hailey-Hailey Disease:

32
Skin, Breast, Testes, Liver

Animal Models for Hailey-Hailey Disease or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Hailey-Hailey Disease:

36
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

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50PubMed
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Articles related to Hailey-Hailey Disease:

(show top 50)    (show all 205)
idTitleAuthorsYear
1
Successful therapy of refractory Hailey-Hailey disease with oral alitretinoin. (23937159)
2014
2
Papular acantholytic dermatosis in the genito-crural region: a localized form of darier disease or hailey-hailey disease? (22995947)
2013
3
Oral terbinafine as an alternative treatment for Hailey-Hailey disease. (23659757)
2013
4
Efficacy of the melanocortin analogue Nle4-D-Phe7-I+-melanocyte-stimulating hormone in the treatment of patients with Hailey-Hailey disease. (24256215)
2013
5
Painful erosions induced by patch testing in a patient with Hailey-Hailey disease. (22233195)
2013
6
Genitoperineal papular acantholytic dyskeratosis is allelic to Hailey-Hailey disease. (22229453)
2012
7
Hailey-Hailey disease and tight junctions: Claudins 1 and 4 are regulated by ATP2C1 gene encoding Ca(2+) /Mn(2+) ATPase SPCA1 in cultured keratinocytes. (22639968)
2012
8
Cold atmospheric plasma: a successful treatment of lesions in Hailey-Hailey disease. (21482888)
2011
9
Refractory Hailey-Hailey disease successfully treated with sandpaper dermabrasion. (21980715)
2011
10
Oxidative stress activation of miR-125b is part of the molecular switch for Hailey-Hailey disease manifestation. (21913998)
2011
11
Hailey-Hailey disease treatment with Botulinum toxin type A. (21152802)
2010
12
Methotrexate for refractory Hailey-Hailey disease. (19627406)
2010
13
Longitudinal leukonychia in Hailey-Hailey Disease: a sign not to be missed. (18627718)
2008
14
Botulinum toxin type A as an adjuvant treatment modality for extensive Hailey-Hailey disease. (18629693)
2008
15
Experience with photodynamic therapy in Hailey-Hailey disease. (18608733)
2008
16
Hailey-Hailey disease from a clinical perspective. (17707506)
2008
17
Fixed and soluble immune complexes in the epidermis in Hailey-Hailey disease. (17535412)
2007
18
Eight novel mutations of ATP2C1 identified in 17 Chinese families with Hailey-Hailey disease. (17911984)
2007
19
Two novel mutations of the ATP2C1 gene in Chinese patients with Hailey-Hailey disease. (17503064)
2007
20
Darier disease and Hailey-Hailey disease. (18060195)
2007
21
Disseminated Hailey-Hailey disease treated with topical tacrolimus and oral erythromycin: Case report and review of the literature. (17311740)
2006
22
Mutations in the ATP2C1 gene in Chinese patients with Hailey-Hailey disease. (16901313)
2006
23
Two novel mutations of the ATP2C1 gene in Chinese families with Hailey-Hailey disease. (16540292)
2006
24
Severe impairment of quality of life in Hailey-Hailey disease. (15823906)
2005
25
'Atypical' cases of hailey-hailey disease may represent typical examples of a type 2 segmental manifestation. (15785043)
2005
26
Hailey-Hailey disease as an orthodisease of PMR1 deficiency in Saccharomyces cerevisiae. (15811312)
2005
27
Hailey-Hailey disease: identification of novel mutations in ATP2C1 and effect of missense mutation A528P on protein expression levels. (15191544)
2004
28
Allelic loss underlies type 2 segmental Hailey-Hailey disease, providing molecular confirmation of a novel genetic concept. (15545997)
2004
29
Hailey-Hailey disease and calcium: lessons from yeast. (15610534)
2004
30
Treatment of Hailey-Hailey disease with tacrolimus ointment and clobetasol propionate foam. (15098980)
2004
31
Functional expression in yeast of the human secretory pathway Ca(2+), Mn(2+)-ATPase defective in Hailey-Hailey disease. (11741891)
2002
32
Botulinum toxin type A as an effective adjuvant therapy for Hailey-Hailey disease. (12081692)
2002
33
Contact irritation provoking Hailey-hailey disease. (11417525)
2001
34
Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca(2+) pump. (10767338)
2000
35
Benign familial pemphigus (Hailey-Hailey disease). Treatment with the pulsed carbon dioxide laser. (9865214)
1998
36
Conjunctival involvement in familial chronic benign pemphigus (Hailey-Hailey disease). (9169328)
1997
37
The simultaneous occurrence of Hailey-Hailey disease, Graves' disease and multiple sclerosis in the same patient. (9228239)
1997
38
Dominantly inherited epidermal acantholysis in dogs, simulating human benign familial chronic pemphigus (Hailey-Hailey disease). (9068730)
1997
39
Benign familial chronic pemphigus (Hailey-Hailey disease) responds to cyclosporin. (7671404)
1995
40
Hailey-Hailey disease maps to a 5 cM interval on chromosome 3q21-q24. (7665912)
1995
41
Hailey-Hailey disease is not allelic to Darier's disease. (7516400)
1994
42
Successful management of Hailey-Hailey disease with potent topical steroid ointment. (8241075)
1993
43
Familial benign chronic pemphigus (Hailey-Hailey disease). Treatment with carbon dioxide laser vaporization. (1575528)
1992
44
Genital benign chronic pemphigus (Hailey-Hailey disease) presenting as condylomas. (1607414)
1992
45
Adhesion molecules and related proteins in Darier's disease and Hailey-Hailey disease. (1419753)
1992
46
Surgical management of Hailey-Hailey disease. (1918483)
1991
47
An immunohistological study of desmosomes in Darier's disease and Hailey-Hailey disease. (2018730)
1991
48
Carbon dioxide laser vaporization of recalcitrant symptomatic plaques of Hailey-Hailey disease and Darier's disease. (2123894)
1990
49
Generalized Hailey-Hailey disease. (708629)
1978
50
Familial benign chronic pemphigus (Hailey-Hailey disease). (993398)
1976

Genetic Variations for Hailey-Hailey Disease

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Hailey-Hailey Disease:

62 (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

Expression for genes affiliated with Hailey-Hailey Disease

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1BioGPS, 15Gene Expression Omnibus DataSets
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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

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Sources:
49PharmGKB, 12EMD Millipore, 37NCBI BioSystems Database, 29KEGG, 53Reactome, 51QIAGEN, 4Cell Signaling Technology
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Compounds for genes affiliated with Hailey-Hailey Disease

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44Novoseek, 28IUPHAR, 59Tocris Bioscience, 11DrugBank, 24HMDB, 49PharmGKB, 2BitterDB
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Compounds related to Hailey-Hailey Disease according to GeneCards/GeneDecks:

(show top 50)    (show all 53)
idCompoundScoreTop Affiliating Genes
1butyrate4410.6YY1
2alpha e4410.4CDH1, JUP
3aequorin4410.4ATP2C1, GJA1
4copper(i)4410.3ATP7B, ATP7A
5toxin a4410.1DSG1, DSG3
6ryanodine44 28 5912.1JUP, ATP2A2, DSP, GJA1
7methylcellulose4410.0IVL, CDH1, VCL
8colcemid4410.0DNAH8, VCL
9cyclopiazonic acid44 5910.9DNAH8, ATP2A2
10phosphotyrosine449.8VCL, GJA1, CDH1, JUP
11ouabain44 1110.8DNAH8, GJA1, VCL
12acyl phosphate449.7DNAH8, ATP7B, ATP7A
13nocodazole44 1110.7ATP7B, CDH1, GJA1
14progestin449.7CDH1, GJA1, SP1
15paraffin449.6GJA1, CDH3, CDH1, IVL, JUP
16vanadate449.6VCL, DNAH8, IVL
17latex449.6CDH1, GJA1, VCL
18sucrose44 11 2411.5JUP, DSP, DSG1, CDH1, GJA1, VCL
19progesterone44 59 28 11 2413.5VCL, GJA1, CDH3, CDH1, DSP
20okadaic acid44 5910.5IVL, GJA1, VCL, SP1
21retinoid449.4SP1, GJA1, CDH1, IVL
22geldanamycin44 49 59 1112.4VCL, CDH1, DNAH8
23hpvs449.4SP1, YY1
241,25 dihydroxy vitamin d3449.4SP1, GJA1, IVL
25sb 20358044 5910.4IVL, CDH1, GJA1, SP1
26paclitaxel44 49 1111.4JUP, CDH1, GJA1, SP1
27cisplatin44 49 59 1112.4JUP, ATP7A, ATP7B, CDH1, GJA1, YY1
28dmso449.3DSP, DNAH8, GJA1, SP1
29vitamin d449.3IVL, CDH1, YY1, SP1
30cyclic amp44 2410.3CDH1, GJA1, VCL, YY1, SP1
31chloramphenicol44 2 1111.1IVL, DNAH8, YY1, SP1
32etoposide44 49 59 1112.1DNAH8, CDH1, GJA1, SP1
3312-o-tetradecanoylphorbol 13-acetate449.1IVL, DSP, CDH1, GJA1, VCL, SP1
34curcumin449.1SP1, CDH1, DNAH8, IVL
35vegf449.0JUP, IVL, CDH1, GJA1, VCL, SP1
36tamoxifen44 49 28 1112.0SP1, GJA1, CDH1, DNAH8
37zinc44 249.9ATP7A, ATP7B, IVL, CDH1, YY1, SP1
38calcitriol44 59 11 2411.9IVL, DNAH8, CDH1, GJA1, SP1
39glutamine448.9SP1, VCL, CDH1, DNAH8, IVL
40atp44 289.8ATP7A, ATP7B, DNAH8, GJA1, VCL, YY1
41thapsigargin44 599.8ATP2A2, IVL, DSP, DNAH8, YY1, SP1
42adenylate448.8SP1, GJA1, CDH1, DNAH8, IVL
43estrogen448.7JUP, ATP2C1, IVL, CDH1, CDH3, GJA1
44acetylcholine44 49 28 11 2412.7DSG3, DSG1, DNAH8, GJA1, VCL, SP1
45testosterone44 59 11 2411.6SP1, VCL, GJA1, CDH1, DNAH8
46cysteine448.4ATP7B, IVL, DNAH8, CDH1, GJA1, VCL
47retinoic acid44 249.3JUP, IVL, DSP, DSG1, DNAH8, CDH1
48tyrosine448.1JUP, ATP2C1, IVL, DSP, DSG3, CDH1
49serine447.9JUP, ATP2A2, ATP7A, IVL, DSP, DSG3
50calcium44 49 11 249.7YY1, JUP, ATP2A2, ATP2C1, ATP2C2, IVL

GO Terms for genes affiliated with Hailey-Hailey Disease

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16Gene Ontology
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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

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  • Antibodies
  • Proteins
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  • Antibodies

Sources for Hailey-Hailey Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet