HHD
MCID: HLY001
MIFTS: 53

Hailey-Hailey Disease (HHD) malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Hailey-Hailey Disease

Aliases & Descriptions for Hailey-Hailey Disease:

Name: Hailey-Hailey Disease 54 12 50 24 25 56 66 13 52 14
Benign Chronic Pemphigus 54 12 50 24 25
Pemphigus, Benign Familial 12 24 25 42
Benign Familial Pemphigus 50 25 66
Familial Benign Pemphigus 50 29 69
Familial Benign Chronic Pemphigus 25 56
Bcpm 50 24
Hhd 24 66
Benign Chronic Familial Pemphigus of Hailey-Hailey 56

Characteristics:

Orphanet epidemiological data:

56
familial benign chronic pemphigus
Inheritance: Autosomal dominant; Age of onset: Adult; Age of death: normal life expectancy;

HPO:

32
hailey-hailey disease:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare skin diseases


External Ids:

OMIM 54 169600
Disease Ontology 12 DOID:0050429
ICD10 33 Q82.8
MeSH 42 D016506
NCIt 47 C82865
SNOMED-CT 64 79468000
Orphanet 56 ORPHA2841
ICD10 via Orphanet 34 Q82.8
MedGen 40 C0085106
UMLS 69 C0085106

Summaries for Hailey-Hailey Disease

NIH Rare Diseases : 50 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 hyperkeratosis, erythema and skin vesicle. An important gene associated with Hailey-Hailey Disease is ATP2C1 (ATPase Secretory Pathway Ca2+ Transporting 1), and among its related pathways/superpathways are Keratinization and Arrhythmogenic right ventricular cardiomyopathy (ARVC). The drugs Acetylcholine and Cholinergic Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, breast and testes, and related phenotypes are embryo and integument

Genetics Home Reference : 25 Benign chronic pemphigus, often called Hailey-Hailey disease, is a rare skin condition that usually appears in 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, and hot weather.

OMIM : 54 Hailey-Hailey disease, also known as benign chronic pemphigus, is a rare autosomal dominant cutaneous disorder that... (169600) more...

UniProtKB/Swiss-Prot : 66 Hailey-Hailey disease: Autosomal dominant disorder characterized by persistent blisters and suprabasal cell separation (acantholysis) of the epidermis, due to impaired keratinocyte adhesion. Patients lacking all isoforms except isoform 2 have HHD.

Related Diseases for Hailey-Hailey Disease

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

(show top 50) (show all 58)
id Related Disease Score Top Affiliating Genes
1 pemphigus 10.7
2 darier disease 10.3
3 squamous cell carcinoma 10.3
4 branchiooculofacial syndrome 10.2 DSP JUP
5 skin fragility-woolly hair syndrome 10.2 DSP JUP
6 gupta patton syndrome 10.2 DSP JUP
7 pallister-killian syndrome 10.1 DSP JUP
8 dermatitis 10.1
9 scabies 10.1
10 bullous pemphigoid 10.1
11 herpes simplex 10.1
12 psoriasis 10.1
13 epidermolysis bullosa, lethal acantholytic 10.1 DSP JUP
14 chromosome 15q11-q13 duplication syndrome 10.1 DSP JUP
15 ventricular tachycardia, catecholaminergic polymorphic, 4 10.1 DSP JUP
16 congenital disorder of glycosylation, type iij 10.0 CDH1 CDH3
17 cardiomyopathy, dilated, 1bb 10.0 DSG1 DSP
18 acute eustachian salpingitis 10.0 CDH1 JUP
19 pneumonia caused by pseudomonas aeruginosa infection 10.0 DSG1 DSP
20 contact dermatitis 10.0
21 acrokeratosis verruciformis 10.0
22 genital herpes 10.0
23 pemphigus vulgaris 10.0
24 eczema herpeticum 10.0
25 graves' disease 10.0
26 candidiasis 10.0
27 acute generalized exanthematous pustulosis 10.0
28 keratosis 10.0
29 melanoma 10.0
30 syringoma 10.0
31 hidradenitis suppurativa 10.0
32 hidradenitis 10.0
33 codas syndrome 10.0 DSC2 DSP JUP
34 choanal atresia and lymphedema 10.0 DSC2 DSP JUP
35 klippel-feil syndrome 2 10.0 DSC2 DSP JUP
36 fibular hemimelia, bilateral 10.0 DSC2 DSP JUP
37 scott syndrome 10.0 ATP2A2 JUP
38 fibular hemimelia, unilateral 10.0 DSC2 DSP JUP
39 congenital absence of upper arm and forearm with hand present, bilateral 10.0 DSC2 DSP JUP
40 peripheral t-cell lymphoma 10.0 DSG1 DSP
41 amyotrophic lateral sclerosis type 14 10.0 CDH1 CDH3
42 pyoderma 10.0 CDH3 DSP
43 pervasive developmental disorder 10.0 DSC2 DSP JUP
44 familial partial lipodystrophy 10.0 DSC2 DSP JUP
45 atypical autism 9.9 DSG1 DSP
46 acute pulmonary heart disease 9.9 ATP2C1 DSG1 DSP
47 ovarian mucinous malignant adenofibroma 9.9 DSG1 DSP
48 taeniasis 9.9 CDH1 CDH3 DSP
49 sengers syndrome 9.9 CDH1 JUP
50 carotid artery thrombosis 9.9 DSG1 DSP JUP

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



Diseases related to Hailey-Hailey Disease

Symptoms & Phenotypes for Hailey-Hailey Disease

Symptoms by clinical synopsis from OMIM:

169600

Clinical features from OMIM:

169600

Human phenotypes related to Hailey-Hailey Disease:

56 32
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperkeratosis 56 32 Very frequent (99-80%) HP:0000962
2 erythema 56 32 Very frequent (99-80%) HP:0010783
3 skin vesicle 56 32 Very frequent (99-80%) HP:0200037
4 skin erosion 56 32 Very frequent (99-80%) HP:0200041
5 acantholysis 56 32 Very frequent (99-80%) HP:0100792

MGI Mouse Phenotypes related to Hailey-Hailey Disease:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.35 ATP2A2 ATP2C1 CDH1 DSP JUP
2 integument MP:0010771 9.1 DSP JUP ATP2A2 ATP2C1 CDH1 CDH3

Drugs & Therapeutics for Hailey-Hailey Disease

Drugs for Hailey-Hailey Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved Phase 1 51-84-3 187
2 Cholinergic Agents Phase 1
3 Neurotransmitter Agents Phase 1
4 Botulinum Toxins Phase 1

Interventional clinical trials:


id Name Status NCT ID Phase
1 Evaluation of the Improvement of Quality of Life of Patients Suffering From Hailey Hailey or Darier Disease After Injections of Botulism Toxin Into Large Folds. Active, not recruiting NCT02782702 Phase 1
2 National Registry for Ichthyosis and Related Disorders Unknown status NCT00074685

Search NIH Clinical Center for Hailey-Hailey Disease

Cochrane evidence based reviews: pemphigus, benign familial

Genetic Tests for Hailey-Hailey Disease

Genetic tests related to Hailey-Hailey Disease:

id Genetic test Affiliating Genes
1 Familial Benign Pemphigus 29
2 Benign Chronic Pemphigus 24 ATP2C1

Anatomical Context for Hailey-Hailey Disease

MalaCards organs/tissues related to Hailey-Hailey Disease:

39
Skin, Breast, Testes, Liver

Publications for Hailey-Hailey Disease

Articles related to Hailey-Hailey Disease:

(show top 50) (show all 267)
id Title Authors Year
1
Dermoscopic presentation of Hailey-Hailey disease. ( 28087023 )
2017
2
Hailey-Hailey Disease With Coexistent Herpes Virus Infection: Insights Into the Diagnostic Conundrum of Herpetic/Pseudoherpetic Features in Cutaneous Acantholytic Disorders. ( 28475517 )
2017
3
Corrigendum: The loss of ATP2C1 impairs the DNA damage response and induces altered skin homeostasis: Consequences for epidermal biology in Hailey-Hailey disease. ( 28300154 )
2017
4
Is photodynamic therapy a relevant therapeutic option in refractory benign familial pemphigus (Hailey-Hailey disease)? A series of eight patients. ( 28301978 )
2017
5
The coexistence of Darier's disease and Hailey-Hailey disease symptoms. ( 28507500 )
2017
6
The Effect of Cryotherapy in Hailey-Hailey Disease. ( 28223763 )
2017
7
Oral magnesium chloride: A novel approach in the management of Hailey-Hailey disease. ( 28164896 )
2017
8
The efficacy of botulinum toxin type A in the treatment of Hailey-Hailey disease. ( 26970226 )
2016
9
Koebnerization of Hailey-Hailey disease into a cutaneous drug eruption of acute generalized exanthematous pustulosis associated with systemic symptoms. ( 27433827 )
2016
10
Mendelian Disorders of Cornification Caused by Defects in Intracellular Calcium Pumps: Mutation Update and Database for Variants in ATP2A2 and ATP2C1 Associated with Darier Disease and Hailey-Hailey Disease. ( 28035777 )
2016
11
Exacerbation of Hailey-Hailey disease by topiramate. ( 27510943 )
2016
12
Hailey-Hailey disease. ( 27657314 )
2016
13
Glutathione S-transferase I'-subunit as a phenotypic suppressor of pmr1I9 strain, the Kluyveromyces lactis model for Hailey-Hailey disease. ( 27523793 )
2016
14
Novel clinical and molecular findings in Chinese families with Hailey-Hailey disease: an update. ( 27663161 )
2016
15
ATP2C1 gene mutations in Hailey-Hailey disease and possible roles of SPCA1 isoforms in membrane trafficking. ( 27277681 )
2016
16
The loss of ATP2C1 impairs the DNA damage response and induces altered skin homeostasis: Consequences for epidermal biology in Hailey-Hailey disease. ( 27528123 )
2016
17
Hailey-Hailey disease. ( 27057511 )
2016
18
Interventional treatments for Hailey-Hailey disease. ( 27745906 )
2016
19
Four novel ATP2C1 mutations in Chinese patients with Hailey-Hailey disease. ( 27095120 )
2016
20
Papular acantholytic dyskeratosis of the vulva associated with familial Hailey-Hailey disease. ( 27028372 )
2016
21
Good Response to Doxycycline in Hailey-Hailey Disease. ( 26810769 )
2016
22
Familial benign chronic pemphigus (Hailey-Hailey disease) treated with electron beam radiation. ( 27222876 )
2016
23
Efficacy of magnesium chloride in the treatment of Hailey-Hailey disease: from serendipity to evidence of its effect on intracellular Ca(2+) homeostasis. ( 25430969 )
2015
24
Three novel mutations of the ATP2C1 gene in Chinese families with Hailey-Hailey disease. ( 25845280 )
2015
25
Successful treatment of refractory Hailey-Hailey disease with a 595-nm pulsed dye laser: A series of 7 cases. ( 25773417 )
2015
26
Refractory Hailey-Hailey Disease That Responded Well to Photodynamic Therapy. ( 26387451 )
2015
27
Successful treatment of hailey-hailey disease with aminolevulinic Acid photodynamic therapy. ( 25834370 )
2015
28
A three-dimensional inA vitro culture model of Hailey-Hailey disease. ( 26121994 )
2015
29
Efficacy of magnesium chloride in the treatment of Hailey-Hailey disease: some further considerations. ( 26519325 )
2015
30
Remission of refractory benign familial chronic pemphigus (hailey-hailey disease) with the addition of systemic cyclosporine. ( 25775626 )
2015
31
Successful botulinum toxin (onabotulinumtoxinA) treatment of Hailey-Hailey disease. ( 25607910 )
2015
32
Desmocollin-specific antibodies in a patient with Hailey-Hailey disease. ( 25580559 )
2015
33
A recurrent melanocytic nevus phenomenon in the setting of Hailey-Hailey disease. ( 25950447 )
2015
34
Hailey-Hailey disease with skin lesions at unusual sites and a good response to acitretin. ( 25566918 )
2015
35
A novel deletion mutation of the ATP2C1 gene in a family with Hailey-Hailey disease. ( 26242806 )
2015
36
Recalcitrant Hailey-Hailey disease responds to oral tacrolimus and botulinum toxin type A. ( 26761940 )
2015
37
A Family with Atypical Hailey Hailey Disease- Is There More to the Underlying Genetics than ATP2C1? ( 25837627 )
2015
38
The forgotten yeast model of Hailey-Hailey disease. ( 26517976 )
2015
39
Oral glycopyrrolate for the treatment of hailey-hailey disease. ( 25651401 )
2015
40
Identification of several mutations in ATP2C1 in Lebanese families: insight into the pathogenesis of Hailey-Hailey disease. ( 25658765 )
2015
41
Hailey-Hailey disease improved by fractional CO2 laser. ( 25602185 )
2015
42
Carbon dioxide laser treatment for Hailey-Hailey disease: a retrospective chart review with patient-reported outcomes. ( 26341946 )
2015
43
Two novel ATP2C1 mutations in patients with Hailey-Hailey disease and a literature review of sequence variants reported in the Chinese population. ( 26782588 )
2015
44
Hailey-Hailey disease: A fold (intertriginous) dermatosis. ( 26051060 )
2015
45
Tzanck smear utilized in the diagnosis of Hailey-Hailey disease mimicking genital herpes. ( 24117014 )
2014
46
Successful therapy of refractory Hailey-Hailey disease with oral alitretinoin. ( 23937159 )
2014
47
The ATP2C1 gene in Hailey-Hailey disease patients: one novel deletion and one novel splicing mutation. ( 24981372 )
2014
48
Hailey-Hailey disease: investigation of a possible compensatory SERCA2 up-regulation and analysis of SPCA1, p63, and IRF6 expression. ( 25256005 )
2014
49
Reflectance confocal microscopy as a non-invasive diagnostic tool for Hailey-Hailey disease. ( 24528151 )
2014
50
Using yeast to model calcium-related diseases: example of the Hailey-Hailey disease. ( 24583118 )
2014

Variations for Hailey-Hailey Disease

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

66 (show all 17)
id Symbol AA change Variation ID SNP ID
1 ATP2C1 p.Ala304Thr VAR_008803 rs137853012
2 ATP2C1 p.Leu318Pro VAR_008804
3 ATP2C1 p.Met641Arg VAR_008805
4 ATP2C1 p.Gly645Arg VAR_008806
5 ATP2C1 p.Thr709Met VAR_008807 rs778865612
6 ATP2C1 p.Pro744Arg VAR_008808
7 ATP2C1 p.Pro201Leu VAR_010130
8 ATP2C1 p.Cys344Tyr VAR_010131
9 ATP2C1 p.Thr570Ile VAR_010132
10 ATP2C1 p.Cys490Phe VAR_019523 rs137853014
11 ATP2C1 p.Leu584Pro VAR_019524 rs137853015
12 ATP2C1 p.Gly309Cys VAR_022672
13 ATP2C1 p.Leu341Pro VAR_022673
14 ATP2C1 p.Cys411Arg VAR_022674
15 ATP2C1 p.Ile580Val VAR_022675
16 ATP2C1 p.Asp742Tyr VAR_022676
17 ATP2C1 p.Gly789Arg VAR_022677

ClinVar genetic disease variations for Hailey-Hailey Disease:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ATP2C1 ATP2C1, 4-BP INS, 767CCCT insertion Pathogenic
2 ATP2C1 NM_001001486.1(ATP2C1): c.910G> A (p.Ala304Thr) single nucleotide variant Pathogenic rs137853012 GRCh37 Chromosome 3, 130682825: 130682825
3 ATP2C1 NM_001001486.1(ATP2C1): c.1402C> T (p.Arg468Ter) single nucleotide variant Pathogenic rs137853013 GRCh37 Chromosome 3, 130688229: 130688229
4 ATP2C1 ATP2C1, 4-BP DEL, 2374TTTG deletion Pathogenic
5 ATP2C1 ATP2C1, IVS11, G-A, -1 single nucleotide variant Pathogenic
6 ATP2C1 NM_001001486.1(ATP2C1): c.1469G> T (p.Cys490Phe) single nucleotide variant Pathogenic rs137853014 GRCh37 Chromosome 3, 130694231: 130694231
7 ATP2C1 ATP2C1, 1-BP DEL, 2460G deletion Pathogenic
8 ATP2C1 NM_001001486.1(ATP2C1): c.1751T> C (p.Leu584Pro) single nucleotide variant Pathogenic rs137853015 GRCh37 Chromosome 3, 130699435: 130699435
9 ATP2C1 ATP2C1, IVS22, G-A, +1 single nucleotide variant Pathogenic

Copy number variations for Hailey-Hailey Disease from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 168337 3 129200000 133700000 Loss ATP2C1 Hailey-hailey disease

Expression for Hailey-Hailey Disease

Search GEO for disease gene expression data for Hailey-Hailey Disease.

Pathways for Hailey-Hailey Disease

GO Terms for Hailey-Hailey Disease

Cellular components related to Hailey-Hailey Disease according to GeneCards Suite gene sharing:

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.8 CDH1 DSC2 DSG1 DSP JUP
2 extracellular matrix GO:0031012 9.67 DSG1 DSP JUP
3 cell-cell junction GO:0005911 9.65 DSG1 DSP JUP
4 lateral plasma membrane GO:0016328 9.54 CDH1 DSG1 JUP
5 ficolin-1-rich granule membrane GO:0101003 9.52 DSG1 DSP
6 intercalated disc GO:0014704 9.5 DSC2 DSP JUP
7 fascia adherens GO:0005916 9.46 DSP JUP
8 cell-cell adherens junction GO:0005913 9.46 CDH1 CDH3 DSC2 JUP
9 catenin complex GO:0016342 9.43 CDH1 JUP
10 cytoplasmic side of plasma membrane GO:0009898 9.43 CDH1 DSG1 JUP
11 cornified envelope GO:0001533 9.26 DSC2 DSG1 DSP JUP
12 desmosome GO:0030057 8.92 DSC2 DSG1 DSP JUP
13 membrane GO:0016020 10.11 ATP2A2 ATP2C1 CDH1 CDH3 DSC2 DSG1

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

(show all 15)
id Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.85 ATP2A2 CDH1 CDH3 DSC2 DSG1 JUP
2 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.73 CDH1 CDH3 DSC2 DSG1
3 cornification GO:0070268 9.71 DSC2 DSG1 DSP JUP
4 epidermis development GO:0008544 9.67 ATP2A2 ATP2C1 DSP
5 keratinization GO:0031424 9.65 CDH3 DSC2 DSG1 DSP JUP
6 regulation of heart rate by cardiac conduction GO:0086091 9.63 DSC2 DSP JUP
7 skin development GO:0043588 9.55 DSP JUP
8 establishment of protein localization to plasma membrane GO:0090002 9.54 CDH1 JUP
9 ATP hydrolysis coupled cation transmembrane transport GO:0099132 9.52 ATP2A2 ATP2C1
10 calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules GO:0016339 9.51 ATP2C1 DSG1
11 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.5 DSC2 DSP JUP
12 cellular response to indole-3-methanol GO:0071681 9.48 CDH1 JUP
13 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.33 DSC2 DSP JUP
14 adherens junction organization GO:0034332 9.26 CDH1 CDH3 DSP JUP
15 single organismal cell-cell adhesion GO:0016337 9.02 CDH1 CDH3 DSG1 DSP JUP

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

id Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.55 ATP2A2 CDH1 CDH3 DSC2 DSG1
2 calcium-transporting ATPase activity GO:0005388 9.32 ATP2A2 ATP2C1
3 gamma-catenin binding GO:0045295 9.26 CDH1 DSG1
4 cell adhesion molecule binding GO:0050839 9.13 CDH1 DSP JUP
5 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 8.8 DSC2 DSP JUP

Sources for Hailey-Hailey Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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