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 autosomal dominant inheritance, enanthema/aphtosa/aphta/leukoplakia and positive nikolski's sign/achantolysis. 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, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 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
  • autosomal dominant inheritance
  • enanthema/aphtosa/aphta/leukoplakia
  • positive nikolski's sign/achantolysis
  • vesicles/bullous/exsudative lesions/bullous/cutaneous/mucosal detachment
  • chronic skin infection/ulcerations/ulcers/cancrum
  • hyperkeratosis/ainhum/hyperkeratotic skin fissures

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
A familial case of Hailey-Hailey disease successfully treated with minocycline and nicotinamide. (23518512)
2013
2
Analysis of ATP2C1 gene mutations in Chinese patients with Hailey-Hailey disease. (21883398)
2012
3
Generalized Hailey-Hailey disease triggered by nonsteroidal antiinflammatory drug-induced rash: case report. (23069308)
2012
4
Effective treatment of Hailey-Hailey disease with a long-pulsed (5 ms) alexandrite laser. (21692642)
2011
5
A novel missense mutation of the ATP2C1 gene in a Chinese patient with Hailey-Hailey disease. (21329674)
2011
6
A case of Hailey-Hailey disease in an infant with a new ATP2C1 gene mutation. (20403116)
2011
7
Segmental multilayered argon plasma coagulation: effective therapy option for perianal and scrotal Hailey-Hailey disease. (20478009)
2011
8
Familial benign chronic pemphigus (Hailey-Hailey disease). (21163165)
2010
9
Benign familial pemphigus (Hailey-Hailey disease) responsive to low dose cyclosporine. (20657133)
2010
10
Hailey-Hailey disease in Tunisia. (20465693)
2010
11
A novel mutation in the ATP2C1 gene is associated with Hailey-Hailey disease in a Chinese family. (19126050)
2009
12
A case of eczema herpeticum with hailey-hailey disease. (20523813)
2009
13
A novel deletion mutation of the ATP2C1 gene in Chinese patients with Hailey-Hailey disease. (18211433)
2008
14
Human papillomavirus type 5 infection in a patient with Hailey-Hailey disease successfully treated with imiquimod. (17300256)
2007
15
Identification of a novel mutation in the ATP2C1 gene in a Chinese pedigree with Hailey-Hailey disease]. (17536260)
2007
16
Aminoglycosides as potential pharmacogenetic agents in the treatment of Hailey-Hailey disease. (16417242)
2006
17
Novel mutation in ATP2C1 gene in a Japanese patient with Hailey-Hailey disease. (16484827)
2006
18
Hailey-Hailey disease responsive to topical calcitriol. (15840130)
2005
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
SPCA1 pumps and Hailey-Hailey disease. (15336968)
2004
24
Treatment of Hailey-Hailey disease with topical calcitriol. (15337998)
2004
25
Is topical tacrolimus really an effective therapy for Hailey-Hailey disease? (15492199)
2004
26
Four novel mutations in ATP2C1 found in Chinese patients with Hailey-Hailey disease. (14510977)
2003
27
Topical tacrolimus ointment is an effective therapy for Hailey-Hailey disease. (14623698)
2003
28
Effective treatment of Hailey-Hailey disease with topical tacrolimus. (12399782)
2002
29
Acute generalized Hailey-Hailey disease. (12139673)
2002
30
Mutations of ATP2C1 in Japanese patients with Hailey-Hailey disease: intrafamilial and interfamilial phenotype variations and lack of correlation with mutation patterns. (11886536)
2001
31
Dissociation of intra- and extracellular domains of desmosomal cadherins and E-cadherin in Hailey-Hailey disease and Darier's disease. (10792220)
2000
32
Human papillomavirus types 16 and 39 in a vulval carcinoma occurring in a woman with Hailey-Hailey disease. (10233276)
1999
33
Treatment of Hailey-Hailey disease (or benign familial pemphigus) using short pulsed and short dwell time carbon dioxide lasers. (10491050)
1999
34
Ultrastructural localization of cell junctional components (desmoglein, plakoglobin, E-cadherin, and beta-catenin) in Hailey-Hailey disease, Darier's disease, and pemphigus vulgaris. (9521500)
1998
35
Hailey-Hailey disease keratinocytes: normal assembly of cell-cell junctions in vitro. (8941678)
1996
36
Involvement of the adherens junction-actin filament system in acantholytic dyskeratosis of Hailey-Hailey disease. A histological, ultrastructural, and histochemical study of lesional and non-lesional skin. (8793655)
1996
37
Localization of the gene whose mutations underlie Hailey-Hailey disease to chromosome 3q. (7981684)
1994
38
Treatment of Hailey-Hailey disease by dermabrasion. (8496429)
1993
39
Hailey-Hailey disease masquerading as candidiasis. (8103482)
1993
40
Seborrhoeic dermatitis of the scalp--a manifestation of Hailey-Hailey disease in a predisposed individual? (1532504)
1992
41
Hailey-Hailey disease: a widespread abnormality of cell adhesion. (2025553)
1991
42
Contact allergies in patients with familial benign chronic pemphigus (Hailey-Hailey disease) (2528572)
1989
43
Histologic findings of Hailey-Hailey disease in a patient with bullous pemphigoid. (2681296)
1989
44
Surgical control of Hailey-Hailey disease. (3318985)
1987
45
Herpes simplex associated with Hailey-Hailey disease. (3668020)
1987
46
Hailey-Hailey disease--case report. (6672559)
1983
47
"Familial benign chronic pemphigus" by Hailey and Hailey, April 1939. Commentary: Hailey-Hailey disease, familial benign chronic pemphigus. (6753757)
1982
48
Surgical management of familial benign chronic pemphigus (Hailey-Hailey disease) by excision and primary closure. (7096674)
1982
49
Hailey-Hailey disease. Report of a case treated surgically. (7030648)
1981
50
Simultaneous occurrence of familial benign chronic pemphigus (Hailey-Hailey disease) and syringoma on the vulva. (646408)
1978

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
3aequorin4410.4GJA1, ATP2C1
4copper(i)4410.3ATP7A, ATP7B
5toxin a4410.1DSG3, DSG1
6ryanodine44 28 5912.1GJA1, DSP, ATP2A2, JUP
7methylcellulose4410.0CDH1, VCL, IVL
8colcemid4410.0VCL, DNAH8
9cyclopiazonic acid44 5910.9ATP2A2, DNAH8
10phosphotyrosine449.8JUP, GJA1, VCL, CDH1
11ouabain44 1110.8DNAH8, GJA1, VCL
12acyl phosphate449.7ATP7A, ATP7B, DNAH8
13nocodazole44 1110.7ATP7B, GJA1, CDH1
14progestin449.7GJA1, CDH1, SP1
15paraffin449.6CDH1, GJA1, IVL, JUP, CDH3
16vanadate449.6VCL, DNAH8, IVL
17latex449.6VCL, CDH1, GJA1
18sucrose44 11 2411.5JUP, DSP, DSG1, CDH1, GJA1, VCL
19progesterone44 59 28 11 2413.5CDH1, CDH3, GJA1, VCL, DSP
20okadaic acid44 5910.5IVL, SP1, VCL, GJA1
21retinoid449.4IVL, CDH1, GJA1, SP1
22geldanamycin44 49 59 1112.4DNAH8, CDH1, VCL
23hpvs449.4YY1, SP1
241,25 dihydroxy vitamin d3449.4SP1, IVL, GJA1
25sb 20358044 5910.4SP1, GJA1, IVL, CDH1
26paclitaxel44 49 1111.4CDH1, JUP, SP1, GJA1
27cisplatin44 49 59 1112.4YY1, GJA1, CDH1, ATP7A, JUP, ATP7B
28dmso449.3GJA1, SP1, DNAH8, DSP
29vitamin d449.3CDH1, SP1, YY1, IVL
30cyclic amp44 2410.3VCL, SP1, CDH1, GJA1, YY1
31chloramphenicol44 2 1111.1SP1, YY1, DNAH8, IVL
32etoposide44 49 59 1112.1DNAH8, SP1, GJA1, CDH1
3312-o-tetradecanoylphorbol 13-acetate449.1CDH1, DSP, IVL, VCL, GJA1, SP1
34curcumin449.1SP1, CDH1, DNAH8, IVL
35vegf449.0VCL, JUP, IVL, CDH1, SP1, GJA1
36tamoxifen44 49 28 1112.0SP1, GJA1, CDH1, DNAH8
37zinc44 249.9YY1, CDH1, IVL, SP1, ATP7B, ATP7A
38calcitriol44 59 11 2411.9GJA1, SP1, IVL, DNAH8, CDH1
39glutamine448.9CDH1, SP1, VCL, IVL, DNAH8
40atp44 289.8ATP7B, VCL, YY1, GJA1, ATP7A, DNAH8
41thapsigargin44 599.8SP1, YY1, DNAH8, DSP, IVL, ATP2A2
42adenylate448.8IVL, DNAH8, CDH1, GJA1, SP1
43estrogen448.7GJA1, SP1, YY1, CDH3, CDH1, IVL
44acetylcholine44 49 28 11 2412.7VCL, DNAH8, DSG1, SP1, DSG3, GJA1
45testosterone44 59 11 2411.6SP1, GJA1, CDH1, DNAH8, VCL
46cysteine448.4ATP7B, DNAH8, CDH1, GJA1, VCL, SP1
47retinoic acid44 249.3DSG1, DNAH8, CDH1, IVL, GJA1, SP1
48tyrosine448.1JUP, SP1, GJA1, CDH3, CDH1, VCL
49serine447.9DSG3, SP1, VCL, JUP, DSP, ATP2A2
50calcium44 49 11 249.7GJA1, DSG3, DSP, IVL, DSC2, DSG1

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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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