BCPM
MCID: HLY001
MIFTS: 66

Hailey-Hailey Disease (BCPM) malady

Genetic diseases, Rare diseases, Skin diseases categories

Summaries for Hailey-Hailey Disease

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22Genetics Home Reference, 44NIH Rare Diseases, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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 atp2c1Ā gene and is inherited in an autosomal dominant manner. treatment focuses on reducing symptoms and preventing flares. last updated: 5/14/2014

MalaCards: Hailey-Hailey Disease, also known as benign chronic pemphigus, is related to pemphigus and herpes simplex, 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 Cell adhesion Endothelial cell contacts by junctional mechanisms and Cell junction organization. The compounds alpha e and aequorin 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:22 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:48 169600

Aliases & Classifications for Hailey-Hailey Disease

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Sources:
9Disease Ontology, 10diseasecard, 44NIH Rare Diseases, 22Genetics Home Reference, 48OMIM, 11DISEASES, 46Novoseek, 50Orphanet, 21GeneTests, 23GTR, 63UMLS, 36MeSH, 60SNOMED-CT via Orphanet, 27ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Skin diseases
Orphanet: 50 
Rare skin diseases


Characteristics (Orphanet epidemiological data):

50
hailey-hailey disease:
Inheritance: Autosomal dominant; Age of onset: Adulthood; Age of death: Normal


Aliases & Descriptions:

hailey-hailey disease 9 10 44 22 48 11 46 50
benign chronic pemphigus 9 44 21 22
familial benign pemphigus 44 23 63
familial benign chronic pemphigus 22 50
pemphigus, benign familial 9 22
benign familial pemphigus 44 22
benign chronic familial pemphigus of hailey-hailey 50
bcpm 44


External Ids:

Disease Ontology9 DOID:0050429
MeSH36 D016506
OMIM48 169600
SNOMED-CT via Orphanet60 79468000
ICD10 via Orphanet27 Q82.8

Related Diseases for Hailey-Hailey Disease

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18GeneCards, 19GeneDecks
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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 64)
idRelated DiseaseScoreTop Affiliating Genes
1pemphigus31.6JUP, DSP, DSG1, DSG3, CDH3
2herpes simplex30.6GJA1, DNAH8, YY1
3keratosis30.6IVL, JUP, DSP
4keratosis follicularis30.5ATP2C1, ATP2A2, DNAH8
5dermatitis30.5DSG3, DSG1, IVL
6bullous pemphigoid30.4IVL, DSP, DSG1, DSG3, VCL
7pemphigus vulgaris30.3IVL, JUP, DSP, DSG1, DSG3, VCL
8melanoma30.1SP1, JUP, DSG1, VCL, DNAH8, GJA1
9scabies10.4
10genital herpes10.3
11hidradenitis suppurativa10.3
12syringoma10.3
13eczema herpeticum10.3
14acrokeratosis verruciformis10.3
15graves' disease10.3
16candidiasis10.3
17hidradenitis10.3
18multiple sclerosis10.3
19psoriasis10.3
20supernumerary nipples10.3
21pemphigus vegetans10.1DSG1
22bullous impetigo10.1DSG1
23subcorneal pustular dermatosis10.1DSG1
24naxos disease10.1DSP, JUP
25cardiomyopathy dilated with woolly hair and keratoderma10.1JUP, DSP
26pemphigus erythematosus10.1DSP, DSG3
27hereditary diffuse gastric cancer10.1CDH1
28keratoderma10.1DSP, DSG1
29bowen syndrome10.1IVL, JUP
30arrhythmogenic right ventricular dysplasia10.1JUP, DSP, DSC2
31bullous skin disease10.1DSG3, DSG1
32keratoacanthoma10.1DSG3, IVL
33basal cell carcinoma10.1CDH3, JUP, IVL
34pemphigus foliaceus10.1DSG3, DSG1, IVL
35microinvasive gastric cancer10.0JUP, CDH1
36lichen planus10.0IVL, DSG3
37bronchiolo-alveolar adenocarcinoma10.0JUP, CDH1
38bladder carcinoma10.0JUP, CDH3, CDH1
39palmoplantar keratosis10.0JUP, DSP, DSG1, GJA1
40mucoepidermoid carcinoma10.0IVL, CDH3
41nasopharynx carcinoma10.0IVL, GJA1, CDH1
42congenital heart disease10.0ATP2A2, DNAH8, GJA1
43endometrial carcinoma10.0CDH1, CDH3, JUP
44prostate cancer10.0CDH1, CDH3, VCL, JUP
45dilated cardiomyopathy10.0GJA1, DNAH8, VCL, DSP
46cervical cancer10.0SP1, IVL, JUP, YY1
47embryonal cancer10.0VCL, YY1, SP1
48sarcoma9.9SP1, JUP, DSP, DSG1, VCL
49hypertrophy of breast9.9ATP2A2, YY1, VCL, DNAH8, GJA1
50breast cancer9.9CDH1, GJA1, SP1

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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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

169600

Clinical features from OMIM:

169600

Symptoms:

50
  • 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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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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21GeneTests, 23GTR
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Genetic tests related to Hailey-Hailey Disease:

id Genetic test Affiliating Genes
1 Benign Chronic Pemphigus21 ATP2C1
2 Familial Benign Pemphigus23

Anatomical Context for Hailey-Hailey Disease

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34MalaCards
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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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38MGI
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MGI Mouse Phenotypes related to Hailey-Hailey Disease:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.3ATP2C1, DSG3, VCL, GJA1, SP1
2MP:00053807.8SP1, ATP2C1, JUP, DSP, YY1, VCL
3MP:00053847.7ATP2C1, ATP2A2, JUP, DSP, DSG3, YY1
4MP:00107717.2CDH1, SP1, ATP2C1, ATP2A2, JUP, DSP
5MP:00053787.0SP1, ATP2C1, ATP2A2, JUP, DSP, DSG3
6MP:00107686.7SP1, ATP2C1, ATP2A2, JUP, DSP, DSG3

Publications for Hailey-Hailey Disease

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53PubMed
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Articles related to Hailey-Hailey Disease:

(show top 50)    (show all 202)
idTitleAuthorsYear
1
Sibling cases of hailey-hailey disease showing atypical clinical features and unique disease course. (24352221)
2014
2
Six novel mutations of ATP2C1 identified in eight Chinese patients with Hailey-Hailey disease. (23442470)
2013
3
Papular acantholytic dermatosis in the genito-crural region: a localized form of darier disease or hailey-hailey disease? (22995947)
2013
4
Hailey-hailey disease treated with topical tacalcitol. (24003293)
2013
5
A familial case of Hailey-Hailey disease successfully treated with minocycline and nicotinamide. (23518512)
2013
6
Hailey-Hailey disease treated with methotrexate. (22826719)
2012
7
Analysis of ATP2C1 gene mutations in Chinese patients with Hailey-Hailey disease. (21883398)
2012
8
Effective treatment of Hailey-Hailey disease with a long-pulsed (5 ms) alexandrite laser. (21692642)
2011
9
Bullous Darier's disease mimicking Hailey-Hailey disease. (22984662)
2011
10
Familial benign chronic pemphigus (Hailey-Hailey disease). (21163165)
2010
11
Hailey-Hailey disease treatment with Botulinum toxin type A. (21152802)
2010
12
Dermoscopy of longitudinal leukonychia in Hailey-Hailey disease. (20956678)
2010
13
A novel mutation in the ATP2C1 gene is associated with Hailey-Hailey disease in a Chinese family. (19126050)
2009
14
Acantholytic dermatosis of the crural folds with ATP2C1 mutation is a possible variant of Hailey-Hailey Disease. (19426624)
2009
15
Three novel ATP2C1 mutations in Chinese patients with Hailey-Hailey disease. (18205868)
2008
16
Diagnosis of Hailey-Hailey disease facilitated by DNA testing: a novel mutation in ATP2C1. (18709316)
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
Human papillomavirus type 5 infection in a patient with Hailey-Hailey disease successfully treated with imiquimod. (17300256)
2007
20
Disseminated Hailey-Hailey disease treated with topical tacrolimus and oral erythromycin: Case report and review of the literature. (17311740)
2006
21
Presence of human papillomavirus type 6 DNA in the perineal verrucoid lesions of Hailey-Hailey disease. (17062074)
2006
22
Mutations in the ATP2C1 gene in Chinese patients with Hailey-Hailey disease. (16901313)
2006
23
Hailey-Hailey disease responsive to topical calcitriol. (15840130)
2005
24
Topical tacrolimus in Hailey-Hailey disease. (16440577)
2005
25
Hailey-Hailey disease: identification of novel mutations in ATP2C1 and effect of missense mutation A528P on protein expression levels. (15191544)
2004
26
Yeast researchers consider Hailey-Hailey disease. (15610504)
2004
27
Calcium pumps and keratinocytes: lessons from Darier's disease and Hailey-Hailey disease. (15149492)
2004
28
Allelic loss underlies type 2 segmental Hailey-Hailey disease, providing molecular confirmation of a novel genetic concept. (15545997)
2004
29
Smoothbeam laser treatment may help improve hidradenitis suppurativa but not Hailey-Hailey disease. (15545102)
2004
30
Four novel mutations in ATP2C1 found in Chinese patients with Hailey-Hailey disease. (14510977)
2003
31
Hailey-Hailey disease: molecular and clinical characterization of novel mutations in the ATP2C1 gene. (11841554)
2002
32
Hailey-Hailey disease: exacerbation by scabies. (11167724)
2001
33
Mutations of ATP2C1 in Japanese patients with Hailey-Hailey disease: intrafamilial and interfamilial phenotype variations and lack of correlation with mutation patterns. (11886536)
2001
34
Squamous cell carcinoma arising in Hailey-Hailey disease of the vulva. (10735968)
2000
35
Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease. (10615129)
2000
36
Human papillomavirus types 16 and 39 in a vulval carcinoma occurring in a woman with Hailey-Hailey disease. (10233276)
1999
37
Conjunctival involvement in familial chronic benign pemphigus (Hailey-Hailey disease). (9169328)
1997
38
Hailey-Hailey disease with acrokeratosis verruciformis Hopf. (8740277)
1996
39
Narrowing of the Hailey-Hailey disease gene region on chromosome 3q and identification of one kindred with a deletion in this region. (8595906)
1995
40
Successful management of Hailey-Hailey disease with potent topical steroid ointment. (8241075)
1993
41
Treatment of Hailey-Hailey disease by dermabrasion. (8496429)
1993
42
Dermabrasion of Hailey-Hailey disease and Darier's disease. (1619066)
1992
43
"Familial benign chronic pemphigus" by Hailey and Hailey, April 1939. Commentary: Hailey-Hailey disease, familial benign chronic pemphigus. (6753757)
1982
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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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Hailey-Hailey Disease:

65 (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:

1
id Gene Name 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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2BioGPS, 16Gene 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:
51PathCards, 61Thomson Reuters, 56Reactome, 52PharmGKB, 39NCBI BioSystems Database, 31KEGG, 54QIAGEN, 5Cell Signaling Technology
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Pathways related to Hailey-Hailey Disease according to GeneCards/GeneDecks:

(show all 12)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7GJA1, DSP, JUP
2
Show member pathways
9.7CDH1, CDH3, JUP
39.7CDH1, CDH3, JUP
49.5ATP2A2, JUP, DSP, GJA1
5
Show member pathways
calcium transport I39
9.4ATP2C1, ATP2C2, ATP2A2
6
Show member pathways
9.4ATP2C1, ATP2C2, ATP2A2
7
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy39
9.3ATP2A2, JUP, DSP, DSC2, GJA1
8
Show member pathways
Proteasome Degradation39
Immune response Antigen presentation by MHC class I61
9.1CDH1, DSG3, DSG1, DSP
9
Show member pathways
9.1CDH1, DSG3, DSG1, DSP
109.0SP1, IVL, GJA1
118.9CDH1, CDH3, GJA1, VCL, DSP, JUP
128.7SP1, IVL, JUP, GJA1

Compounds for genes affiliated with Hailey-Hailey Disease

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Sources:
46Novoseek, 30IUPHAR, 62Tocris Bioscience, 12DrugBank, 52PharmGKB, 25HMDB, 3BitterDB
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Compounds related to Hailey-Hailey Disease according to GeneCards/GeneDecks:

(show top 50)    (show all 65)
idCompoundScoreTop Affiliating Genes
1alpha e4610.3CDH1, JUP
2aequorin4610.2GJA1, ATP2C1
3colcemid4610.0DNAH8, VCL
4ryanodine46 30 6211.9GJA1, DSP, JUP, ATP2A2
5toxin a469.9DSG3, DSG1
6methylcellulose469.9IVL, VCL, CDH1
7ouabain46 1210.8VCL, DNAH8, GJA1
8cyclopiazonic acid46 6210.7ATP2A2, DNAH8
9latex469.7CDH1, GJA1, VCL
10phosphotyrosine469.7JUP, VCL, GJA1, CDH1
11vanadate469.6IVL, VCL, DNAH8
12geldanamycin46 52 62 1212.6VCL, DNAH8, CDH1
13progesterone46 30 62 25 1213.5DSP, VCL, GJA1, CDH3, CDH1
14paraffin469.4IVL, JUP, GJA1, CDH3, CDH1
15progestin469.3CDH1, GJA1, SP1
16sucrose46 25 1211.3JUP, DSP, DSG1, VCL, GJA1, CDH1
17okadaic acid46 6210.1GJA1, VCL, IVL, SP1
18paclitaxel46 52 1211.1SP1, JUP, GJA1, CDH1
191,25 dihydroxy vitamin d3469.0GJA1, IVL, SP1
20dmso469.0GJA1, DNAH8, DSP, SP1
21nitric oxide46 25 1211.0CDH3, GJA1, VCL, YY1, ATP2A2
22retinoid469.0SP1, IVL, GJA1, CDH1
23gf 109203x46 6210.0VCL, IVL, SP1
24sb 20358046 6210.0CDH1, GJA1, IVL, SP1
25vitamin d468.9CDH1, YY1, IVL, SP1
26pd 98,059468.9CDH1, GJA1, IVL, SP1
27etoposide46 52 62 1211.8CDH1, GJA1, DNAH8, SP1
28chloramphenicol46 3 52 1211.8DNAH8, YY1, IVL, SP1
29curcumin468.8CDH1, DNAH8, IVL, SP1
30tamoxifen46 52 30 1211.8CDH1, GJA1, DNAH8, SP1
31cyclic amp46 259.8SP1, YY1, VCL, GJA1, CDH1
32dexamethasone46 52 30 1211.7SP1, IVL, JUP, GJA1, CDH1
33doxorubicin46 52 1210.7SP1, DNAH8, GJA1, CDH1
3412-o-tetradecanoylphorbol 13-acetate468.6SP1, IVL, DSP, VCL, GJA1, CDH1
35glutamine468.5SP1, IVL, VCL, DNAH8, CDH1
36calcitriol46 62 25 1211.5SP1, IVL, DNAH8, GJA1, CDH1
37testosterone46 62 25 1211.5SP1, VCL, DNAH8, GJA1, CDH1
38vegf468.5SP1, IVL, JUP, VCL, GJA1, CDH1
39butyrate468.5SP1, IVL, YY1, DNAH8, CDH1
40adenylate468.5SP1, IVL, DNAH8, GJA1, CDH1
41phosphatidylinositol468.5SP1, IVL, VCL, GJA1, CDH1
42thapsigargin46 629.5SP1, ATP2A2, IVL, DSP, YY1, DNAH8
43cysteine468.2SP1, IVL, VCL, DNAH8, GJA1, CDH1
44acetylcholine46 52 30 25 1212.2SP1, DSG1, DSG3, VCL, DNAH8, GJA1
45estrogen468.1SP1, ATP2C1, IVL, JUP, YY1, GJA1
46glutamate467.9SP1, YY1, DNAH8, GJA1, CDH1
47retinoic acid46 258.8SP1, IVL, JUP, DSP, DSG1, DNAH8
48tyrosine467.4JUP, IVL, ATP2C1, SP1, DSP, DSG3
49serine467.3SP1, ATP2A2, IVL, JUP, DSP, DSG1
50calcium46 52 25 129.0CDH1, ATP2C1, ATP2C2, ATP2A2, IVL, JUP

GO Terms for genes affiliated with Hailey-Hailey Disease

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17Gene Ontology
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Cellular components related to Hailey-Hailey Disease according to GeneCards/GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1catenin complexGO:01634210.1CDH1, JUP
2intercalated discGO:01470410.0JUP, DSP, GJA1
3cytoplasmic side of plasma membraneGO:0098989.9CDH1, DSG1, JUP
4lateral plasma membraneGO:0163289.8JUP, DSG1, CDH1
5cell-cell junctionGO:0059119.8JUP, DSG1, VCL
6fascia adherensGO:0059169.7GJA1, VCL, DSP, JUP
7actin cytoskeletonGO:0156299.6CDH1, VCL, JUP
8cornified envelopeGO:0015339.6DSP, IVL
9basolateral plasma membraneGO:0163239.6JUP, DSP, CDH1
10protein-DNA complexGO:0329939.5JUP, SP1
11cell-cell adherens junctionGO:0059139.4JUP, DSC2, VCL, CDH3, CDH1
12desmosomeGO:0300579.3DSC2, DSG3, DSG1, DSP, JUP
13extracellular vesicular exosomeGO:0700628.6IVL, JUP, DSP, DSG3, DSC2, VCL
14plasma membraneGO:0058868.0JUP, DSP, DSG1, DSG3, DSC2, VCL

Biological processes related to Hailey-Hailey Disease according to GeneCards/GeneDecks:

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1cellular response to indole-3-methanolGO:07168110.1JUP, CDH1
2bundle of His cell to Purkinje myocyte communicationGO:08606910.1JUP, DSP, DSC2
3ventricular cardiac muscle cell action potentialGO:08600510.1DSC2, DSP, JUP
4regulation of heart rate by cardiac conductionGO:08609110.1JUP, DSP, DSC2
5establishment of protein localization to plasma membraneGO:09000210.0JUP, CDH1
6epidermis developmentGO:00854410.0DSP, ATP2A2, ATP2C1
7cell-cell junction organizationGO:0452169.9CDH1, CDH3, JUP
8cell junction assemblyGO:0343299.8CDH1, CDH3, JUP
9peptide cross-linkingGO:0181499.8IVL, DSP
10adherens junction organizationGO:0343329.8CDH1, CDH3, DSP, JUP
11cell-cell adhesionGO:0163379.7CDH1, DSG1, DSP, JUP
12calcium-dependent cell-cell adhesionGO:0163399.7DSG1, ATP2C1
13cell adhesionGO:0071559.5CDH3, VCL, DSC2, ATP2A2
14cellular component disassembly involved in execution phase of apoptosisGO:0069219.4CDH1, DSG3, DSG1, DSP
15ion transmembrane transportGO:0342209.4GJA1, ATP2A2, ATP2C2, ATP2C1
16trophectodermal cell differentiationGO:0018299.4CDH1, SP1
17homophilic cell adhesionGO:0071569.2DSG1, DSG3, DSC2, CDH3, CDH1
18transmembrane transportGO:0550859.1GJA1, ATP2A2, ATP2C2, ATP2C1
19apoptotic processGO:0069159.0DSP, DSG1, DSG3, GJA1, CDH1

Molecular functions related to Hailey-Hailey Disease according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1alpha-catenin bindingGO:04529410.0JUP, VCL
2cadherin bindingGO:04529610.0VCL, JUP
3gamma-catenin bindingGO:0452959.8CDH1, DSG1
4calcium-transporting ATPase activityGO:0053889.6ATP2A2, ATP2C2, ATP2C1
5structural molecule activityGO:0051989.4VCL, DSP, JUP, IVL
6calcium ion bindingGO:0055098.8ATP2C1, DSG1, DSG3, DSC2, CDH3, CDH1
7protein bindingGO:0055156.6SP1, ATP2C2, ATP2A2, JUP, DSP, DSC2

Products for genes affiliated with Hailey-Hailey Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hailey-Hailey Disease

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet