BCPM
MCID: HLY001
MIFTS: 67

Hailey-Hailey Disease (BCPM) malady

Genetic diseases, Rare diseases, Skin diseases categories
Download this MalaCard

Summaries for Hailey-Hailey Disease

About this section


Fully expand this MalaCard
NIH Rare Diseases:42 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 keratosis, and has symptoms including hyperkeratosis/ainhum/hyperkeratotic skin fissures, chronic skin infection/ulcerations/ulcers/cancrum 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 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: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

About this section
Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 20GeneTests, 22GTR, 62UMLS, 34MeSH, 26ICD10 via Orphanet
See all sources

Hailey-Hailey Disease, Aliases & Descriptions:

Name: Hailey-Hailey Disease 8 9 42 21 46 10 44 48
Benign Chronic Pemphigus 8 42 20 21
Familial Benign Chronic Pemphigus 21 48 62
Familial Benign Pemphigus 42 22 62
 
Pemphigus, Benign Familial 8 21
Benign Familial Pemphigus 42 21
Benign Chronic Familial Pemphigus of Hailey-Hailey 48
Bcpm 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Skin diseases
Orphanet: 48 
Rare skin diseases


Characteristics (Orphanet epidemiological data):

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


External Ids:

Disease Ontology8 DOID:0050429
MeSH34 D016506
OMIM46 169600
ICD10 via Orphanet26 Q82.8

Related Diseases for Hailey-Hailey Disease

About this section

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

(show top 50)    (show all 65)
idRelated DiseaseScoreTop Affiliating Genes
1pemphigus31.7DSP, DSG3, DSG1, CDH3, JUP
2keratosis31.0DSP, IVL, JUP
3dermatitis31.0DSG3, DSG1, IVL
4keratosis follicularis30.8ATP2C1, ATP2A2, DNAH8
5bullous pemphigoid30.7IVL, DSP, DSG1, VCL, DSG3
6herpes simplex30.5GJA1, DNAH8, YY1
7pemphigus vulgaris29.8IVL, JUP, DSP, DSG3, VCL, CDH3
8melanoma29.2CDH3, VCL, GJA1, DNAH8, CDH1, DSG1
9pemphigus vegetans10.5DSG1
10bullous impetigo10.5DSG1
11subcorneal pustular dermatosis10.5DSG1
12naxos disease10.5DSP, JUP
13psoriasis10.5
14scabies10.5
15cardiomyopathy dilated with woolly hair and keratoderma10.4JUP, DSP
16pemphigus erythematosus10.4DSG3, DSP
17hereditary diffuse gastric cancer10.4CDH1
18keratoderma10.4DSP, DSG1
19bowen syndrome10.3JUP, IVL
20arrhythmogenic right ventricular cardiomyopathy10.3JUP, DSC2, DSP
21bullous skin disease10.3DSG1, DSG3
22keratoacanthoma10.3DSG3, IVL
23multiple sclerosis10.3
24hidradenitis suppurativa10.3
25syringoma10.3
26eczema herpeticum10.3
27genital herpes10.3
28acrokeratosis verruciformis10.3
29graves' disease10.3
30candidiasis10.3
31contact dermatitis10.3
32hidradenitis10.3
33supernumerary nipples10.3
34basal cell carcinoma10.3CDH3, IVL, JUP
35pemphigus foliaceus10.3DSG3, DSG1, IVL
36microinvasive gastric cancer10.2JUP, CDH1
37bronchiolo-alveolar adenocarcinoma10.2CDH1, JUP
38lichen planus10.2IVL, DSG3
39breast ductal carcinoma10.2CDH1, CDH3
40bladder carcinoma10.2CDH3, CDH1, JUP
41palmoplantar keratosis10.1DSP, JUP, DSG1, GJA1
42mucoepidermoid carcinoma10.1CDH3, IVL
43nasopharynx carcinoma10.1IVL, CDH1, GJA1
44congenital heart disease10.1DNAH8, ATP2A2, GJA1
45endometrial carcinoma10.0CDH1, CDH3, JUP
46prostate cancer10.0CDH1, VCL, CDH3, JUP
47dilated cardiomyopathy10.0GJA1, DSP, VCL, DNAH8
48cervical cancer9.9YY1, SP1, IVL, JUP
49embryonal cancer9.8VCL, YY1, SP1
50sarcoma9.8JUP, DSP, VCL, SP1, DSG1

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



Diseases related to hailey-hailey disease

Symptoms for Hailey-Hailey Disease

About this section

Symptoms by clinical synopsis from OMIM:

169600

Clinical features from OMIM:

169600

Symptoms:

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

HPO human phenotypes related to Hailey-Hailey Disease:

(show all 7)
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 autosomal dominant inheritance HP:0000006
7 erythema HP:0010783

Drugs & Therapeutics for Hailey-Hailey Disease

About this section

Drug clinical trials:

Search ClinicalTrials for Hailey-Hailey Disease

Search NIH Clinical Center for Hailey-Hailey Disease

Genetic Tests for Hailey-Hailey Disease

About this section

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

About this section

MalaCards organs/tissues related to Hailey-Hailey Disease:

32
Skin, Breast, Testes, Liver

Animal Models for Hailey-Hailey Disease or affiliated genes

About this section

MGI Mouse Phenotypes related to Hailey-Hailey Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.3GJA1, VCL, DSG3, ATP2C1, SP1
2MP:00053807.8SP1, CDH1, ATP2C1, JUP, DSP, YY1
3MP:00053847.7DSP, DSG3, YY1, GJA1, CDH1, JUP
4MP:00107717.2JUP, ATP2C1, SP1, DSP, DSG3, YY1
5MP:00053787.0SP1, ATP2C1, ATP2A2, JUP, DSP, DSG3
6MP:00107686.7GJA1, VCL, YY1, DSG3, DSP, JUP

Publications for Hailey-Hailey Disease

About this section

Articles related to Hailey-Hailey Disease:

(show top 50)    (show all 218)
idTitleAuthorsYear
1
Hailey-Hailey disease. (25101346)
2014
2
The ATP2C1 gene in Hailey-Hailey disease patients: one novel deletion and one novel splicing mutation. (24981372)
2014
3
Sibling cases of hailey-hailey disease showing atypical clinical features and unique disease course. (24352221)
2014
4
Combined therapeutic use of oral alitretinoin and narrowband ultraviolet-B therapy in the treatment of hailey-hailey disease. (25386331)
2014
5
Six novel mutations of ATP2C1 identified in eight Chinese patients with Hailey-Hailey disease. (23442470)
2013
6
Papular acantholytic dermatosis in the genito-crural region: a localized form of darier disease or hailey-hailey disease? (22995947)
2013
7
Hailey-hailey disease treated with topical tacalcitol. (24003293)
2013
8
Hailey-Hailey disease treated with methotrexate. (22826719)
2012
9
Analysis of ATP2C1 gene mutations in Chinese patients with Hailey-Hailey disease. (21883398)
2012
10
Effective treatment of Hailey-Hailey disease with a long-pulsed (5 ms) alexandrite laser. (21692642)
2011
11
Bullous Darier's disease mimicking Hailey-Hailey disease. (22984662)
2011
12
Familial benign chronic pemphigus (Hailey-Hailey disease). (21163165)
2010
13
Hailey-Hailey disease treatment with Botulinum toxin type A. (21152802)
2010
14
Dermoscopy of longitudinal leukonychia in Hailey-Hailey disease. (20956678)
2010
15
A novel mutation in the ATP2C1 gene is associated with Hailey-Hailey disease in a Chinese family. (19126050)
2009
16
Acantholytic dermatosis of the crural folds with ATP2C1 mutation is a possible variant of Hailey-Hailey Disease. (19426624)
2009
17
Three novel ATP2C1 mutations in Chinese patients with Hailey-Hailey disease. (18205868)
2008
18
Diagnosis of Hailey-Hailey disease facilitated by DNA testing: a novel mutation in ATP2C1. (18709316)
2008
19
Fixed and soluble immune complexes in the epidermis in Hailey-Hailey disease. (17535412)
2007
20
Eight novel mutations of ATP2C1 identified in 17 Chinese families with Hailey-Hailey disease. (17911984)
2007
21
Human papillomavirus type 5 infection in a patient with Hailey-Hailey disease successfully treated with imiquimod. (17300256)
2007
22
Disseminated Hailey-Hailey disease treated with topical tacrolimus and oral erythromycin: Case report and review of the literature. (17311740)
2006
23
Presence of human papillomavirus type 6 DNA in the perineal verrucoid lesions of Hailey-Hailey disease. (17062074)
2006
24
Mutations in the ATP2C1 gene in Chinese patients with Hailey-Hailey disease. (16901313)
2006
25
Aminoglycosides as potential pharmacogenetic agents in the treatment of Hailey-Hailey disease. (16417242)
2006
26
Hailey-Hailey disease responsive to topical calcitriol. (15840130)
2005
27
Topical tacrolimus in Hailey-Hailey disease. (16440577)
2005
28
Hailey-Hailey disease: identification of novel mutations in ATP2C1 and effect of missense mutation A528P on protein expression levels. (15191544)
2004
29
Yeast researchers consider Hailey-Hailey disease. (15610504)
2004
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
Four novel mutations in ATP2C1 found in Chinese patients with Hailey-Hailey disease. (14510977)
2003
34
Hailey-Hailey disease: molecular and clinical characterization of novel mutations in the ATP2C1 gene. (11841554)
2002
35
Hailey-Hailey disease: exacerbation by scabies. (11167724)
2001
36
Squamous cell carcinoma arising in Hailey-Hailey disease of the vulva. (10735968)
2000
37
Human papillomavirus types 16 and 39 in a vulval carcinoma occurring in a woman with Hailey-Hailey disease. (10233276)
1999
38
Efficacy of erbium:YAG laser ablation in Darier disease and Hailey-Hailey disease. (10206049)
1999
39
Conjunctival involvement in familial chronic benign pemphigus (Hailey-Hailey disease). (9169328)
1997
40
Hailey-Hailey disease with acrokeratosis verruciformis Hopf. (8740277)
1996
41
Narrowing of the Hailey-Hailey disease gene region on chromosome 3q and identification of one kindred with a deletion in this region. (8595906)
1995
42
Successful management of Hailey-Hailey disease with potent topical steroid ointment. (8241075)
1993
43
Dermabrasion of Hailey-Hailey disease and Darier's disease. (1619066)
1992
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

About this section

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

64 (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:

6
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

About this section
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

About this section

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 I37
9.4ATP2C1, ATP2C2, ATP2A2
6
Show member pathways
9.4ATP2C1, ATP2C2, ATP2A2
7
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy37
9.3ATP2A2, JUP, DSP, DSC2, GJA1
8
Show member pathways
Proteasome Degradation37
Immune response Antigen presentation by MHC class I60
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

About this section

Compounds related to Hailey-Hailey Disease according to GeneCards/GeneDecks:

(show top 50)    (show all 65)
idCompoundScoreTop Affiliating Genes
1alpha e4410.3CDH1, JUP
2aequorin4410.2GJA1, ATP2C1
3colcemid4410.0DNAH8, VCL
4ryanodine44 28 6111.9GJA1, DSP, JUP, ATP2A2
5toxin a449.9DSG3, DSG1
6methylcellulose449.9IVL, VCL, CDH1
7ouabain44 1110.8VCL, DNAH8, GJA1
8cyclopiazonic acid44 6110.7ATP2A2, DNAH8
9latex449.7CDH1, GJA1, VCL
10phosphotyrosine449.7JUP, VCL, GJA1, CDH1
11vanadate449.6IVL, VCL, DNAH8
12geldanamycin44 50 61 1112.6VCL, DNAH8, CDH1
13progesterone44 28 61 24 1113.5DSP, VCL, GJA1, CDH3, CDH1
14paraffin449.4IVL, JUP, GJA1, CDH3, CDH1
15progestin449.3CDH1, GJA1, SP1
16sucrose44 24 1111.3JUP, DSP, DSG1, VCL, GJA1, CDH1
17okadaic acid44 6110.1GJA1, VCL, IVL, SP1
18paclitaxel44 50 1111.1SP1, JUP, GJA1, CDH1
191,25 dihydroxy vitamin d3449.0GJA1, IVL, SP1
20dmso449.0GJA1, DNAH8, DSP, SP1
21nitric oxide44 24 1111.0CDH3, GJA1, VCL, YY1, ATP2A2
22retinoid449.0SP1, IVL, GJA1, CDH1
23gf 109203x44 6110.0VCL, IVL, SP1
24sb 20358044 6110.0CDH1, GJA1, IVL, SP1
25vitamin d448.9CDH1, YY1, IVL, SP1
26pd 98,059448.9CDH1, GJA1, IVL, SP1
27etoposide44 50 61 1111.8CDH1, GJA1, DNAH8, SP1
28chloramphenicol44 2 50 1111.8DNAH8, YY1, IVL, SP1
29curcumin448.8CDH1, DNAH8, IVL, SP1
30tamoxifen44 50 28 1111.8CDH1, GJA1, DNAH8, SP1
31cyclic amp44 249.8SP1, YY1, VCL, GJA1, CDH1
32dexamethasone44 50 28 1111.7SP1, IVL, JUP, GJA1, CDH1
33doxorubicin44 50 1110.7SP1, DNAH8, GJA1, CDH1
3412-o-tetradecanoylphorbol 13-acetate448.6SP1, IVL, DSP, VCL, GJA1, CDH1
35glutamine448.5SP1, IVL, VCL, DNAH8, CDH1
36calcitriol44 61 24 1111.5SP1, IVL, DNAH8, GJA1, CDH1
37testosterone44 61 24 1111.5SP1, VCL, DNAH8, GJA1, CDH1
38vegf448.5SP1, IVL, JUP, VCL, GJA1, CDH1
39butyrate448.5SP1, IVL, YY1, DNAH8, CDH1
40adenylate448.5SP1, IVL, DNAH8, GJA1, CDH1
41phosphatidylinositol448.5SP1, IVL, VCL, GJA1, CDH1
42thapsigargin44 619.5SP1, ATP2A2, IVL, DSP, YY1, DNAH8
43cysteine448.2SP1, IVL, VCL, DNAH8, GJA1, CDH1
44acetylcholine44 50 28 24 1112.2SP1, DSG1, DSG3, VCL, DNAH8, GJA1
45estrogen448.1SP1, ATP2C1, IVL, JUP, YY1, GJA1
46glutamate447.9SP1, YY1, DNAH8, GJA1, CDH1
47retinoic acid44 248.8SP1, IVL, JUP, DSP, DSG1, DNAH8
48tyrosine447.4JUP, IVL, ATP2C1, SP1, DSP, DSG3
49serine447.3SP1, ATP2A2, IVL, JUP, DSP, DSG1
50calcium44 50 24 119.0CDH1, ATP2C1, ATP2C2, ATP2A2, IVL, JUP

GO Terms for genes affiliated with Hailey-Hailey Disease

About this section

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

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Hailey-Hailey Disease

About this section
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet