MCID: HLY001
MIFTS: 51

Hailey-Hailey Disease malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Hailey-Hailey Disease

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Aliases & Descriptions for Hailey-Hailey Disease:

Name: Hailey-Hailey Disease 49 10 11 45 22 23 47 12 51 67
Pemphigus, Benign Familial 10 22 23 36
Benign Chronic Pemphigus 10 45 22 23
Benign Familial Pemphigus 45 23 67
Familial Benign Pemphigus 45 24 65
 
Familial Benign Chronic Pemphigus 23 51
Bcpm 45 22
Hhd 22 67
Benign Chronic Familial Pemphigus of Hailey-Hailey 51

Characteristics:

Orphanet epidemiological data:

51
hailey-hailey disease:
Inheritance: Autosomal dominant; Age of onset: Adult; Age of death: normal life expectancy

HPO:

61
hailey-hailey disease:
Inheritance: autosomal dominant inheritance


Classifications:

Orphanet: 51 
Rare skin diseases


External Ids:

OMIM49 169600
Disease Ontology10 DOID:0050429
ICD1027 Q82.8
MeSH36 D016506
SNOMED-CT59 79468000
NCIt42 C82865
Orphanet51 2841
ICD10 via Orphanet28 Q82.8
MedGen34 C0085106
UMLS65 C0085106

Summaries for Hailey-Hailey Disease

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NIH Rare Diseases:45 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 pemphigus, benign familial, is related to endotheliitis and leukemia, and has symptoms including skin ulcer, acantholysis and abnormal blistering of the skin. An important gene associated with Hailey-Hailey Disease is ATP2C1 (ATPase Secretory Pathway Ca2+ Transporting 1), and among its related pathways are Cell adhesion_Endothelial cell contacts by junctional mechanisms and Cell adhesion_Cadherin-mediated cell adhesion. Affiliated tissues include skin, breast and endothelial, and related mouse phenotype integument.

UniProtKB/Swiss-Prot:67 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.

Genetics Home Reference:23 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:49 Hailey-Hailey disease, also known as benign chronic pemphigus, is a rare autosomal dominant cutaneous disorder that... (169600) more...

Related Diseases for Hailey-Hailey Disease

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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:

 51
  • 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 6)
id Description Frequency HPO Source Accession
1 skin ulcer hallmark (90%) HP:0200042
2 acantholysis hallmark (90%) HP:0100792
3 abnormal blistering of the skin hallmark (90%) HP:0008066
4 hyperkeratosis hallmark (90%) HP:0000962
5 abnormality of the oral cavity hallmark (90%) HP:0000163
6 erythema HP:0010783

Drugs & Therapeutics for Hailey-Hailey Disease

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Evaluation 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 recruitingNCT02782702Phase 1
2National Registry for Ichthyosis and Related DisordersActive, not recruitingNCT00074685

Search NIH Clinical Center for Hailey-Hailey Disease


Cochrane evidence based reviews: pemphigus, benign familial

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 Pemphigus22 ATP2C1

Anatomical Context for Hailey-Hailey Disease

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MalaCards organs/tissues related to Hailey-Hailey Disease:

33
Skin, Breast, Endothelial, Lung, Liver, Prostate, Bone

Animal Models for Hailey-Hailey Disease or affiliated genes

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MGI Mouse Phenotypes related to Hailey-Hailey Disease:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107717.6ATP2A2, ATP2C1, CDH3, DSP, JUP, YY1

Publications for Hailey-Hailey Disease

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Articles related to Hailey-Hailey Disease:

(show top 50)    (show all 243)
idTitleAuthorsYear
1
Endothelial nitric oxide synthase gene polymorphism is associated with Legg-CalvAc-Perthes disease. (27168827)
2016
2
Novel lethal form of congenital hypopituitarism associated with the first recessive LHX4 mutation. (25871839)
2015
3
Dissecting the genetics of chronic mucus hypersecretion in smokers with and without COPD. (25234806)
2015
4
New mutations in low-density lipoprotein receptor gene in familial hypercholesterolemia patients from Petrozavodsk]. (24450200)
2013
5
Huge recurrent tumoral calcinosis needing extensive excision and reconstruction: report of a rare case and brief literature review. (22653143)
2012
6
Mutation screening of PDZD2, GOLPH3, and MTMR12 genes in patients with schizophrenia. (21451436)
2012
7
TGF-I^/SMAD/GLI2 signaling axis in cancer progression and metastasis. (21862631)
2011
8
Validity assessment of the cutaneous T-cell lymphoma severity index to predict prognosis in advanced mycosis fungoides/SAczary syndrome. (21315479)
2011
9
Evaluation of GH-IGF-I axis in adult patients with coeliac disease. (19813164)
2010
10
The basal flux of Akt in the mitochondria is mediated by heat shock protein 90. (19187436)
2009
11
Targeting bone morphogenetic protein antagonists: in vitro and in vivo evidence of their role in bone metabolism. (19063711)
2009
12
Fine-mapping of candidate region in Amish and Ashkenazi families confirms linkage of refractive error to a QTL on 1p34-p36. (19626131)
2009
13
Analysis of the tip-to-base gradient of CaM in pollen tube pulsant growth using in vivo CaM-GFP system. (19536549)
2009
14
Characterization of Dent's disease mutations of CLC-5 reveals a correlation between functional and cell biological consequences and protein structure. (19019917)
2009
15
Overexpression of thiol/disulfide isomerases enhances membrane fusion directed by the Newcastle disease virus fusion protein. (18829746)
2008
16
PINK1 is necessary for long term survival and mitochondrial function in human dopaminergic neurons. (18560593)
2008
17
Combination of the serotonin transporter and norepinephrine transporter gene promoter polymorphisms might influence harm avoidance and novelty seeking in healthy females. (18511195)
2008
18
Lectin affinity chromatography as a tool to differentiate endogenous and recombinant erythropoietins. (18976769)
2008
19
Networking of WNT, FGF, Notch, BMP, and Hedgehog signaling pathways during carcinogenesis. (17873379)
2007
20
Endoscopic management strategies in relation to the severity of acute cholangitis. (17057573)
2006
21
A farnesyltransferase inhibitor improves disease phenotypes in mice with a Hutchinson-Gilford progeria syndrome mutation. (16862216)
2006
22
The achondroplasia mutation does not alter the dimerization energetics of the fibroblast growth factor receptor 3 transmembrane domain. (16634636)
2006
23
Generation of RHD-CE(2-9)-D allele by gene conversion in cis]. (16120578)
2005
24
The effect of 10% carbamide peroxide, carbopol and/or glycerin on enamel and dentin microhardness. (16268396)
2005
25
Improvement in endothelial structure and function after metformin treatment in young normal-weight women with polycystic ovary syndrome: results of a 6-month study. (16118336)
2005
26
Gamma-glutamylcysteine ethyl ester protection of proteins from Abeta(1-42)-mediated oxidative stress in neuronal cell culture: a proteomics approach. (15672443)
2005
27
Live Cell Imaging of ERK and MEK: simple binding equilibrium explains the regulated nucleocytoplasmic distribution of ERK. (15546878)
2005
28
Excess apoptosis of mononuclear cells contributes to the depressed cytomegalovirus-specific immunity in HIV-infected patients on HAART. (15527856)
2004
29
Epignathus teratoma. (12892820)
2003
30
Intravenous atropine treatment in infantile hypertrophic pyloric stenosis. (12089130)
2002
31
Extensive surgical cytoreduction and intraoperative hyperthermic intraperitoneal chemotherapy in patients with pseudomyxoma peritonei (Br J Surg 2001; 88: 458-63). (11488802)
2001
32
Commentary: mutations of transferrin receptor 2 (Trf-2) and iron storage disease. (11358391)
2001
33
Expression, purification, and characterization of active recombinant prostate-specific antigen in Pichia pastoris (yeast). (11241552)
2001
34
Intraoperative measurement of choline acetyltransferase activity to evaluate the functional status of donor nerve during reinnervated free muscle transfer: a preliminary report. (9848554)
1998
35
Electron shuttle between membrane-bound cytochrome P450 3A4 and b5 rules uncoupling mechanisms. (9708976)
1998
36
Inhibition of the conversion of pre-interleukins-1 alpha and 1 beta to mature cytokines by p-benzoquinone, a metabolite of benzene. (8548860)
1995
37
Computed tomographic study of the common cold. (8259141)
1994
38
Induction by tumor necrosis factor-alpha of rapid release of immunoreactive and bioactive luteinizing hormone from rat pituitary cells in vitro. (2177854)
1990
39
Glutathione-dependent bioactivation of xenobiotics: implications for mutagenicity and carcinogenicity. (2134693)
1990
40
The characteristics of the action of calcium ions on miniature end-plate currents after the disruption of mediator hydrolysis]. (2284030)
1990
41
Ganglioneuroblastoma and urticaria by physical agents. (2368174)
1990
42
Allergic and irritant contact dermatitis compared in the treatment of alopecia totalis and universalis. A comparison of the value of topical diphencyprone and tretinoin gel. (2713259)
1989
43
Definitive operation for pulmonary atresia with intact ventricular septum. Results in twenty patients. (2434807)
1987
44
Renal dysplasia of the sacral region: metanephric dysplastic hamartoma of the sacral region. (6419458)
1983
45
Acute unilateral central corneal edema. (910866)
1977
46
The treatment of rhinoscleroma locally with aureomycin. (13498576)
1957
47
The Tabes Dorsalis of today. (13045176)
1952
48
Chronic vaginal discharge in a child; an unusual case. (14845844)
1950
49
Banti's syndrome with multiple aneurysms and thromboses of the splenic blood vessels. (20292899)
1947
50

Variations for Hailey-Hailey Disease

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

67 (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:

5
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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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:

idNameGO IDScoreTop Affiliating Genes
1intercalated discGO:00147049.0DSC2, JUP

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1regulation of ventricular cardiac muscle cell action potentialGO:00989119.8DSP, JUP
2ion transmembrane transportGO:00342209.7ATP2A2, ATP2C1
3epidermis developmentGO:00085449.5ATP2A2, DSP
4cell junction assemblyGO:00343299.4CDH3, JUP
5cell-cell junction organizationGO:00452169.0CDH3, JUP
6adherens junction organizationGO:00343328.9CDH3, DSP, JUP
7single organismal cell-cell adhesionGO:00163378.9CDH3, DSP, JUP

Sources for Hailey-Hailey Disease

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet