MCID: HLY001
MIFTS: 59

Hailey-Hailey Disease malady

Genetic diseases, Rare diseases, Skin diseases categories

Summaries for Hailey-Hailey Disease

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NIH Rare Diseases:41 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, 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.

OMIM:45 Hailey-Hailey disease, also known as benign chronic pemphigus, is a rare autosomal dominant cutaneous disorder that... (169600) more...

Aliases & Classifications for Hailey-Hailey Disease

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Sources:
45OMIM, 9Disease Ontology, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 11DISEASES, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 33MeSH, 26ICD10 via Orphanet
See all sources

Hailey-Hailey Disease, Aliases & Descriptions:

Name: Hailey-Hailey Disease 45 9 10 41 21 11 43 47
Benign Chronic Pemphigus 45 9 41 20 21
Familial Benign Chronic Pemphigus 41 21 47
Familial Benign Pemphigus 41 22 60
 
Benign Chronic Familial Pemphigus of Hailey-Hailey 41 47
Pemphigus, Benign Familial 9 21
Benign Familial Pemphigus 41 21
Bcpm 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Skin diseases
Orphanet: 47 
Rare skin diseases


Characteristics (Orphanet epidemiological data):

47
hailey-hailey disease:
Inheritance: Autosomal dominant; Age of onset: Adult; Age of death: normal life expectancy


External Ids:

OMIM45 169600
Disease Ontology9 DOID:0050429
MeSH33 D016506
Orphanet47 2841
ICD10 via Orphanet26 Q82.8

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 62)
idRelated DiseaseScoreTop Affiliating Genes
1pemphigus31.7DSP, DSG3, DSG1, CDH3, JUP
2darier disease31.3ATP2C1, ATP2A2, DNAH8
3keratosis31.0DSP, IVL, JUP
4dermatitis31.0DSG3, DSG1, IVL
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
10hypersensitivity syndrome, carbamazepine-induced10.5DSG1
11subcorneal pustular dermatosis10.5DSG1
12psoriasis10.5
13scabies10.5
14naxos disease10.5DSP, JUP
15cardiomyopathy, dilated, with woolly hair and keratoderma10.4JUP, DSP
16pemphigus erythematosus10.4DSG3, DSP
17gastric cancer risk after h. pylori infection10.4CDH1
18keratoderma10.3DSP, DSG1
19bowen syndrome10.3JUP, IVL
20arrhythmogenic right ventricular cardiomyopathy10.3JUP, DSC2, DSP
21bullous skin disease10.3DSG1, DSG3
22keratoacanthoma10.3DSG3, IVL
23acrokeratosis verruciformis10.3
24hidradenitis suppurativa10.3
25genital herpes10.3
26syringoma10.3
27eczema herpeticum10.3
28graves' disease10.3
29candidiasis10.3
30contact dermatitis10.3
31hidradenitis10.3
32supernumerary nipples10.3
33basal cell carcinoma10.3CDH3, IVL, JUP
34pemphigus foliaceus10.2DSG3, DSG1, IVL
35microinvasive gastric cancer10.2JUP, CDH1
36bronchiolo-alveolar adenocarcinoma10.2CDH1, JUP
37lichen planus10.2IVL, DSG3
38breast ductal carcinoma10.2CDH1, CDH3
39bladder cancer, somatic10.1CDH3, CDH1, JUP
40palmoplantar keratosis10.1DSP, JUP, DSG1, GJA1
41mucoepidermoid carcinoma10.1CDH3, IVL
42nasopharyngeal carcinoma10.1IVL, CDH1, GJA1
43congenital heart disease10.1DNAH8, ATP2A2, GJA1
44endometrial cancer10.0CDH1, CDH3, JUP
45prostate cancer10.0CDH1, VCL, CDH3, JUP
46dilated cardiomyopathy10.0GJA1, DSP, VCL, DNAH8
47cervical cancer, somatic9.9YY1, SP1, IVL, JUP
48embryonal cancer9.8VCL, YY1, SP1
49sarcoma9.8JUP, DSP, VCL, SP1, DSG1
50breast cancer9.8CDH1, 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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Symptoms by clinical synopsis from OMIM:

169600

Clinical features from OMIM:

169600

Symptoms:

 47
  • 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

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Drug clinical trials:

Search ClinicalTrials for Hailey-Hailey Disease

Search NIH Clinical Center for Hailey-Hailey Disease

Genetic Tests for Hailey-Hailey Disease

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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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MalaCards organs/tissues related to Hailey-Hailey Disease:

31
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:

35
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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Articles related to Hailey-Hailey Disease:

(show top 50)    (show all 233)
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
Reflectance confocal microscopy and Hailey-Hailey disease: assessment of response to treatment after CO2 laser ablation. (25482702)
2014
5
Combined therapeutic use of oral alitretinoin and narrowband ultraviolet-B therapy in the treatment of hailey-hailey disease. (25386331)
2014
6
Six novel mutations of ATP2C1 identified in eight Chinese patients with Hailey-Hailey disease. (23442470)
2013
7
Papular acantholytic dermatosis in the genito-crural region: a localized form of darier disease or hailey-hailey disease? (22995947)
2013
8
Hailey-hailey disease treated with topical tacalcitol. (24003293)
2013
9
Hailey-Hailey disease treated with methotrexate. (22826719)
2012
10
Analysis of ATP2C1 gene mutations in Chinese patients with Hailey-Hailey disease. (21883398)
2012
11
Effective treatment of Hailey-Hailey disease with a long-pulsed (5 ms) alexandrite laser. (21692642)
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

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UniProtKB/Swiss-Prot 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

Clinvar genetic disease variations for Hailey-Hailey Disease:

6
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

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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Pathways related to Hailey-Hailey Disease according to GeneCards Suite gene sharing:

(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 I36
9.4ATP2C1, ATP2C2, ATP2A2
6
Show member pathways
9.4ATP2C1, ATP2C2, ATP2A2
7
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy36
9.3ATP2A2, JUP, DSP, DSC2, GJA1
8
Show member pathways
Proteasome Degradation36
Immune response Antigen presentation by MHC class I58
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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Compounds related to Hailey-Hailey Disease according to GeneCards Suite gene sharing:

(show top 50)    (show all 65)
idCompoundScoreTop Affiliating Genes
1alpha e4310.3CDH1, JUP
2aequorin4310.2ATP2C1, GJA1
3colcemid4310.0DNAH8, VCL
4ryanodine43 28 5911.9ATP2A2, JUP, DSP, GJA1
5toxin a439.9DSG3, DSG1
6methylcellulose439.9VCL, IVL, CDH1
7ouabain43 1210.8DNAH8, GJA1, VCL
8cyclopiazonic acid43 5910.7ATP2A2, DNAH8
9latex439.7GJA1, VCL, CDH1
10phosphotyrosine439.7GJA1, VCL, CDH1, JUP
11vanadate439.6IVL, VCL, DNAH8
12geldanamycin43 49 59 1212.6VCL, DNAH8, CDH1
13progesterone43 28 59 24 1213.5CDH3, VCL, CDH1, DSP, GJA1
14paraffin439.4IVL, GJA1, CDH1, JUP, CDH3
15progestin439.3SP1, CDH1, GJA1
16sucrose43 24 1211.3CDH1, GJA1, VCL, DSP, DSG1, JUP
17okadaic acid43 5910.1GJA1, SP1, IVL, VCL
18paclitaxel43 49 1211.1CDH1, GJA1, JUP, SP1
191,25 dihydroxy vitamin d3439.0IVL, GJA1, SP1
20dmso439.0GJA1, DNAH8, DSP, SP1
21nitric oxide43 24 1211.0YY1, GJA1, CDH3, ATP2A2, VCL
22retinoid439.0IVL, GJA1, CDH1, SP1
23gf 109203x43 5910.0IVL, SP1, VCL
24sb 20358043 5910.0GJA1, CDH1, IVL, SP1
25vitamin d438.9CDH1, YY1, IVL, SP1
26pd 98,059438.9IVL, SP1, CDH1, GJA1
27etoposide43 49 59 1211.8DNAH8, GJA1, SP1, CDH1
28chloramphenicol43 2 49 1211.8IVL, SP1, DNAH8, YY1
29curcumin438.8CDH1, IVL, DNAH8, SP1
30tamoxifen43 49 28 1211.8GJA1, DNAH8, CDH1, SP1
31cyclic amp43 249.8SP1, GJA1, CDH1, YY1, VCL
32dexamethasone43 49 28 1211.7SP1, JUP, CDH1, GJA1, IVL
33doxorubicin43 49 1210.7GJA1, CDH1, DNAH8, SP1
3412-o-tetradecanoylphorbol 13-acetate438.6CDH1, GJA1, SP1, VCL, DSP, IVL
35glutamine438.5SP1, IVL, DNAH8, CDH1, VCL
36calcitriol43 59 24 1211.5SP1, DNAH8, IVL, GJA1, CDH1
37testosterone43 59 24 1211.5DNAH8, GJA1, CDH1, VCL, SP1
38vegf438.5CDH1, JUP, GJA1, VCL, SP1, IVL
39butyrate438.5SP1, YY1, DNAH8, IVL, CDH1
40adenylate438.5IVL, SP1, CDH1, GJA1, DNAH8
41phosphatidylinositol438.5IVL, VCL, GJA1, CDH1, SP1
42thapsigargin43 599.5DSP, ATP2A2, SP1, IVL, YY1, DNAH8
43cysteine438.2SP1, IVL, DNAH8, GJA1, CDH1, VCL
44acetylcholine43 49 28 24 1212.2DSG3, DSG1, SP1, VCL, DNAH8, GJA1
45estrogen438.1CDH3, SP1, IVL, ATP2C1, JUP, YY1
46glutamate437.9CDH1, GJA1, YY1, DNAH8, SP1
47retinoic acid43 248.8DNAH8, DSG1, DSP, JUP, CDH1, IVL
48tyrosine437.4CDH3, CDH1, ATP2C1, JUP, GJA1, DSP
49serine437.3GJA1, IVL, DSG3, CDH1, VCL, JUP
50calcium43 49 24 129.0YY1, DSG3, DSG1, DSP, JUP, IVL

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:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1catenin complexGO:001634210.1CDH1, JUP
2intercalated discGO:001470410.0JUP, DSP, GJA1
3cytoplasmic side of plasma membraneGO:00098989.9CDH1, DSG1, JUP
4lateral plasma membraneGO:00163289.8JUP, DSG1, CDH1
5cell-cell junctionGO:00059119.8JUP, DSG1, VCL
6fascia adherensGO:00059169.7GJA1, VCL, DSP, JUP
7actin cytoskeletonGO:00156299.6CDH1, VCL, JUP
8cornified envelopeGO:00015339.6DSP, IVL
9basolateral plasma membraneGO:00163239.6JUP, DSP, CDH1
10protein-DNA complexGO:00329939.5JUP, SP1
11cell-cell adherens junctionGO:00059139.4JUP, DSC2, VCL, CDH3, CDH1
12desmosomeGO:00300579.3DSC2, DSG3, DSG1, DSP, JUP
13extracellular vesicular exosomeGO:00700628.6IVL, JUP, DSP, DSG3, DSC2, VCL
14plasma membraneGO:00058868.0JUP, DSP, DSG1, DSG3, DSC2, VCL

Biological processes related to Hailey-Hailey Disease according to GeneCards Suite gene sharing:

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1cellular response to indole-3-methanolGO:007168110.1JUP, CDH1
2bundle of His cell to Purkinje myocyte communicationGO:008606910.1JUP, DSP, DSC2
3ventricular cardiac muscle cell action potentialGO:008600510.1DSC2, DSP, JUP
4regulation of heart rate by cardiac conductionGO:008609110.1JUP, DSP, DSC2
5establishment of protein localization to plasma membraneGO:009000210.0JUP, CDH1
6epidermis developmentGO:000854410.0DSP, ATP2A2, ATP2C1
7cell-cell junction organizationGO:00452169.9CDH1, CDH3, JUP
8cell junction assemblyGO:00343299.8CDH1, CDH3, JUP
9peptide cross-linkingGO:00181499.8IVL, DSP
10adherens junction organizationGO:00343329.8CDH1, CDH3, DSP, JUP
11cell-cell adhesionGO:00163379.7CDH1, DSG1, DSP, JUP
12calcium-dependent cell-cell adhesionGO:00163399.7DSG1, ATP2C1
13cell adhesionGO:00071559.5CDH3, VCL, DSC2, ATP2A2
14cellular component disassembly involved in execution phase of apoptosisGO:00069219.4CDH1, DSG3, DSG1, DSP
15ion transmembrane transportGO:00342209.4GJA1, ATP2A2, ATP2C2, ATP2C1
16trophectodermal cell differentiationGO:00018299.4CDH1, SP1
17homophilic cell adhesionGO:00071569.2DSG1, DSG3, DSC2, CDH3, CDH1
18transmembrane transportGO:00550859.1GJA1, ATP2A2, ATP2C2, ATP2C1
19apoptotic processGO:00069159.0DSP, DSG1, DSG3, GJA1, CDH1

Molecular functions related to Hailey-Hailey Disease according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1alpha-catenin bindingGO:004529410.0JUP, VCL
2cadherin bindingGO:004529610.0VCL, JUP
3gamma-catenin bindingGO:00452959.8CDH1, DSG1
4calcium-transporting ATPase activityGO:00053889.6ATP2A2, ATP2C2, ATP2C1
5structural molecule activityGO:00051989.4VCL, DSP, JUP, IVL
6calcium ion bindingGO:00055098.8ATP2C1, DSG1, DSG3, DSC2, CDH3, CDH1
7protein bindingGO:00055156.6SP1, ATP2C2, ATP2A2, JUP, DSP, DSC2

Products for genes affiliated with Hailey-Hailey Disease

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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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet