BCPM
MCID: BNG091
MIFTS: 54

Benign Chronic Pemphigus (BCPM)

Categories: Genetic diseases, Immune diseases, Rare diseases, Skin diseases

Aliases & Classifications for Benign Chronic Pemphigus

MalaCards integrated aliases for Benign Chronic Pemphigus:

Name: Benign Chronic Pemphigus 58 12 54 26
Hailey-Hailey Disease 58 12 77 54 26 60 76 13 56 15
Pemphigus, Benign Familial 58 12 26 45
Familial Benign Pemphigus 54 30 6 74
Familial Benign Chronic Pemphigus 26 60 38
Benign Familial Pemphigus 54 26 76
Bcpm 58 54
Hhd 58 76
Benign Chronic Familial Pemphigus of Hailey-Hailey 60
Pemphigus, Chronic, Benign ) 41
Hailey-Hailey Disease; Hhd 58

Characteristics:

Orphanet epidemiological data:

60
familial benign chronic pemphigus
Inheritance: Autosomal dominant; Age of onset: Adult; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset third-fourth decade
lesions provoked by friction, sun exposure, heat, and injury


HPO:

33
benign chronic pemphigus:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:0050429
OMIM 58 169600
KEGG 38 H00844
MeSH 45 D016506
NCIt 51 C82865
SNOMED-CT 69 79468000
ICD10 34 Q82.8
ICD10 via Orphanet 35 Q82.8
UMLS via Orphanet 75 C0085106
Orphanet 60 ORPHA2841
MedGen 43 C0085106
UMLS 74 C0085106

Summaries for Benign Chronic Pemphigus

NIH Rare Diseases : 54 Hailey-Hailey disease is a genetic skin disease that causes blistering. 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, and may include topical medication, laser, and other procedures.

MalaCards based summary : Benign Chronic Pemphigus, also known as hailey-hailey disease, is related to pemphigus and pemphigus vulgaris. An important gene associated with Benign Chronic Pemphigus is ATP2C1 (ATPase Secretory Pathway Ca2+ Transporting 1), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Cardiac conduction. The drugs Acetylcholine and Acetylcholine Release Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include skin, breast and testes, and related phenotypes are hyperkeratosis and erythema

Disease Ontology : 12 A pemphigus that is characterized by recurring blistering most commonly occurring in the folds of the skin and has material basis in mutations in the ATP2C1 gene that result in loss of adhesion within the skin.

Genetics Home Reference : 26 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 : 58 Hailey-Hailey disease, also known as benign chronic pemphigus, is a rare autosomal dominant cutaneous disorder that usually becomes manifest in the third or fourth decade of life with erythema, vesicles, and erosions involving the body folds, particularly the groin and axillary regions. Other sites of the body, such as the neck, perianal, and submammary regions, may likewise be affected (summary by Poblete-Gutierrez et al., 2004). This disorder was first described by the dermatologist brothers Hailey and Hailey (1939). (169600)

UniProtKB/Swiss-Prot : 76 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.

Wikipedia : 77 Hailey–Hailey disease, or familial benign chronic pemphigus or familial benign pemphigus, was originally... more...

Related Diseases for Benign Chronic Pemphigus

Diseases in the Pemphigus family:

Benign Chronic Pemphigus

Diseases related to Benign Chronic Pemphigus via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 47, show less)
# Related Disease Score Top Affiliating Genes
1 pemphigus 31.1 ATP2C1 DSP JUP
2 pemphigus vulgaris 30.2 DSP JUP
3 keratosis 30.1 ATP2A2 DSP
4 darier-white disease 28.7 ATP2A2 ATP2C1 ATP2C2 CDH3 DSP JUP
5 squamous cell carcinoma 10.6
6 dermatitis 10.6
7 scabies 10.4
8 bullous pemphigoid 10.4
9 herpes simplex 10.4
10 acrokeratosis verruciformis 10.3
11 multiple sclerosis 10.3
12 neutrophil migration 10.3
13 pemphigus vulgaris, familial 10.3
14 graves' disease 10.3
15 candidiasis 10.3
16 hidradenitis suppurativa 10.3
17 hidradenitis 10.3
18 contact dermatitis 10.3
19 genital herpes 10.3
20 seborrheic dermatitis 10.3
21 acute generalized exanthematous pustulosis 10.3
22 psoriasis 10.1
23 grover's disease 10.1 DSP JUP
24 epidermolysis bullosa, lethal acantholytic 10.1 DSP JUP
25 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.1 DSP JUP
26 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.1 DSP JUP
27 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.1 DSP JUP
28 palmoplantar keratoderma and woolly hair 10.1 DSP JUP
29 arrhythmogenic right ventricular dysplasia, familial, 1 10.1 DSP JUP
30 naxos disease 10.1 DSP JUP
31 ectodermal dysplasia/skin fragility syndrome 10.1 DSP JUP
32 arrhythmogenic right ventricular dysplasia, familial, 9 10.0 DSP JUP
33 arrhythmogenic right ventricular dysplasia, familial, 8 10.0 DSP JUP
34 cardiomyopathy, dilated, with woolly hair and keratoderma 10.0 DSP JUP
35 bullous skin disease 10.0 ATP2A2 ATP2C1 DSP
36 palmoplantar keratosis 10.0 DSP JUP
37 skin disease 10.0 ATP2A2 ATP2C1 DSP
38 cellulitis 10.0 ATP2A2 ATP2C1 DSP
39 hair disease 10.0 CDH3 DSP
40 intrinsic cardiomyopathy 9.9 DSP JUP
41 psoriasis 7 9.9
42 psoriasis 11 9.9
43 psoriasis 13 9.9
44 syringoma 9.9
45 eczema herpeticum 9.9
46 leukoplakia 9.9
47 atrial standstill 1 9.7 DSP JUP

Graphical network of the top 20 diseases related to Benign Chronic Pemphigus:



Diseases related to Benign Chronic Pemphigus

Symptoms & Phenotypes for Benign Chronic Pemphigus

Human phenotypes related to Benign Chronic Pemphigus:

60 33 (showing 5, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperkeratosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000962
2 erythema 60 33 hallmark (90%) Very frequent (99-80%) HP:0010783
3 skin vesicle 60 33 hallmark (90%) Very frequent (99-80%) HP:0200037
4 skin erosion 60 33 hallmark (90%) Very frequent (99-80%) HP:0200041
5 acantholysis 60 33 hallmark (90%) Very frequent (99-80%) HP:0100792

Symptoms via clinical synopsis from OMIM:

58
Skin Nails Hair Skin:
erythema
skin blisters and erosions (neck, perianal, submaxillary, groin, axilla, popliteal fossa)

Skin Nails Hair Skin Histology:
suprabasal acantholysis

Clinical features from OMIM:

169600

MGI Mouse Phenotypes related to Benign Chronic Pemphigus:

47 (showing 1, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.02 ATP2A2 ATP2C1 CDH3 DSP JUP

Drugs & Therapeutics for Benign Chronic Pemphigus

Drugs for Benign Chronic Pemphigus (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 11, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved, Investigational Phase 1 51-84-3 187
2 Acetylcholine Release Inhibitors Phase 1
3 Cholinergic Agents Phase 1
4 Neurotransmitter Agents Phase 1
5 Botulinum Toxins Phase 1
6
Chlorhexidine Approved, Vet_approved Not Applicable 55-56-1 2713 9552079
7
Lidocaine Approved, Vet_approved Not Applicable 137-58-6 3676
8
Fusidic Acid Approved, Investigational Not Applicable 6990-06-3 3000226
9 Pharmaceutical Solutions Not Applicable
10 Anesthetics Not Applicable
11 Chlorhexidine gluconate Not Applicable

Interventional clinical trials:

(showing 3, show less)
# Name Status NCT ID Phase Drugs
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. Completed NCT02782702 Phase 1 Botulism Toxin Treatment
2 National Registry for Ichthyosis and Related Disorders Unknown status NCT00074685
3 M. Hailey-Hailey: hSPCA1 Expression and Skin Structure Upon Laser Therapy Recruiting NCT03849989 Not Applicable

Search NIH Clinical Center for Benign Chronic Pemphigus

Cochrane evidence based reviews: pemphigus, benign familial

Genetic Tests for Benign Chronic Pemphigus

Genetic tests related to Benign Chronic Pemphigus:

# Genetic test Affiliating Genes
1 Familial Benign Pemphigus 30 ATP2C1

Anatomical Context for Benign Chronic Pemphigus

MalaCards organs/tissues related to Benign Chronic Pemphigus:

42
Skin, Breast, Testes, Liver, Neutrophil

Publications for Benign Chronic Pemphigus

Articles related to Benign Chronic Pemphigus:

(showing 381, show less)
# Title Authors Year
1
Low-dose naltrexone therapy in benign chronic pemphigus (Hailey-Hailey disease): a case series. ( 31002846 )
2019
2
Botulinum toxin type A for the first-line treatment of Hailey-Hailey disease. ( 29896862 )
2019
3
Acitretin as a successful treatment for Hailey-Hailey disease. ( 30280408 )
2019
4
Hailey-Hailey disease successfully treated with vitamin D oral supplementation. ( 30291662 )
2019
5
Altered levels of focal adhesion and extracellular matrix-receptor interacting proteins were identified in Hailey-Hailey disease by quantitative iTRAQ proteome analysis. ( 30506709 )
2019
6
A novel splice-site mutation in the ATP2C1 gene of a Chinese family with Hailey-Hailey disease. ( 30654607 )
2019
7
Hailey-Hailey disease with lichenoid lesions around the anus. ( 30855357 )
2019
8
Naltrexone Therapy for Hailey-Hailey Disease: Confirming My Addiction to Evidence-Based Medicine. ( 30888948 )
2019
9
Use of low-dose naltrexone in the treatment of severe Hailey-Hailey disease: One case report. ( 30958613 )
2019
10
Generalized hailey-hailey disease with flexural keratotic papules: an interesting presentation and remarkable response with Minocycline. ( 31012213 )
2019
11
Hailey-Hailey disease: a diagnostic challenge. ( 31039223 )
2019
12
Treatment of Hailey-Hailey disease with narrowband phototherapy and acitretin: A case report. ( 31105943 )
2019
13
Generalized familial benign chronic pemphigus (Hailey-Hailey disease) treated successfully with low-dose naltrexone. ( 30167446 )
2018
14
Psoriasiform Hailey-Hailey Disease Presenting as Erythematous Psoriasiform Plaques Throughout the Body: A Case Report. ( 29236657 )
2018
15
Variable Response to Naltrexone in Patients With Hailey-Hailey Disease. ( 29344611 )
2018
16
Mild case of Hailey-Hailey disease caused by a novel ATP2C1 mutation. ( 29383827 )
2018
17
Narrowband UV-B Phototherapy in the Treatment of Generalized Hailey-Hailey Disease. ( 29467079 )
2018
18
Store-independent coupling between the Secretory Pathway Ca2+ transport ATPase SPCA1 and Orai1 in Golgi stress and Hailey-Hailey disease. ( 29555205 )
2018
19
Dermoscopy of Hailey Hailey Disease. ( 29644210 )
2018
20
Mild Hailey-Hailey disease cases with aberrant splicing variants of ATP2C1 successfully controlled with excimer light. ( 29705999 )
2018
21
Hailey-Hailey disease patient with a novel missense mutation in ATP2C1 successfully treated with minocycline hydrochloride. ( 29740863 )
2018
22
A Case of Hailey-Hailey Disease Managed With Oral Magnesium Citrate and High-Dose Vitamin D3. ( 29865954 )
2018
23
Long-term improvement of recalcitrant Hailey-Hailey disease with electron beam radiation therapy: Case report and review. ( 29907515 )
2018
24
Yeast-Based Screen to Identify Natural Compounds with a Potential Therapeutic Effect in Hailey-Hailey Disease. ( 29925776 )
2018
25
Identification of a recurrent mutation in ATP2C1 demonstrates that papular acantholytic dyskeratosis and Hailey-Hailey disease are allelic disorders. ( 29944739 )
2018
26
Segmental Hailey-Hailey disease of the vulva. ( 30168169 )
2018
27
Treatment of Severe Hailey-Hailey Disease With Apremilast. ( 30304341 )
2018
28
Looking for a Treatment for Hailey-Hailey Disease: The Importance of Being Consistent in Case Reports. ( 30322310 )
2018
29
Safety of Topical Calcineurin Inhibitors for Hailey-Hailey Disease. ( 30422293 )
2018
30
Safety of Topical Calcineurin Inhibitors for Hailey-Hailey Disease-Reply. ( 30422296 )
2018
31
Hailey-Hailey Disease With Coexistent Herpes Virus Infection: Insights Into the Diagnostic Conundrum of Herpetic/Pseudoherpetic Features in Cutaneous Acantholytic Disorders. ( 28475517 )
2018
32
Hailey-Hailey disease due to ATP2C1 splice site mutation, successfully treated with minocycline hydrochloride. ( 28653466 )
2018
33
Dermoscopic and reflectance confocal microscopic presentation of Hailey-Hailey disease: A case series. ( 28782140 )
2018
34
Hailey-Hailey Disease and Reduction Mammoplasty: Surgical Treatment of a Gene Mutation. ( 28916958 )
2018
35
Low-dose naltrexone: a novel treatment for Hailey-Hailey disease. ( 28991360 )
2018
36
Treatment of Hailey-Hailey disease with botulinum toxin. ( 29044476 )
2018
37
Low-Dose Naltrexone Treatment of Familial Benign Pemphigus (Hailey-Hailey Disease). ( 28768314 )
2017
38
Is photodynamic therapy a relevant therapeutic option in refractory benign familial pemphigus (Hailey-Hailey disease)? A series of eight patients. ( 28301978 )
2017
39
Hailey-Hailey Disease Presenting as Lichenoid Plaques on the Thigh. ( 29139371 )
2017
40
Exacerbation of Hailey-Hailey disease by topiramate. ( 27510943 )
2017
41
Interventional treatments for Hailey-Hailey disease. ( 27745906 )
2017
42
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 )
2017
43
Dermoscopic presentation of Hailey-Hailey disease. ( 28087023 )
2017
44
Oral magnesium chloride: A novel approach in the management of Hailey-Hailey disease. ( 28164896 )
2017
45
The Effect of Cryotherapy in Hailey-Hailey Disease. ( 28223763 )
2017
46
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
47
The coexistence of Darier's disease and Hailey-Hailey disease symptoms. ( 28507500 )
2017
48
The role of the ATP2C1 gene in Hailey-Hailey disease. ( 28551824 )
2017
49
Treatment of Hailey-Hailey Disease With Low-Dose Naltrexone. ( 28768313 )
2017
50
A Case of Hailey-Hailey Disease with a Novel Nonsense Mutation in the ATP2C1 Gene. ( 28966528 )
2017
51
Identification of 2 Novel Mutations in ATP2C1 Gene in Hailey-Hailey Disease and a Literature Review of Variations in a Chinese Han Population. ( 29104283 )
2017
52
Koebnerization of Hailey-Hailey disease into a cutaneous drug eruption of acute generalized exanthematous pustulosis associated with systemic symptoms. ( 27433827 )
2016
53
Familial benign chronic pemphigus (Hailey-Hailey disease) treated with electron beam radiation. ( 27222876 )
2016
54
Management of familial benign chronic pemphigus. ( 27695354 )
2016
55
Three novel mutations of the ATP2C1 gene in Chinese families with Hailey-Hailey disease. ( 25845280 )
2016
56
A novel deletion mutation of the ATP2C1 gene in a family with Hailey-Hailey disease. ( 26242806 )
2016
57
The forgotten yeast model of Hailey-Hailey disease. ( 26517976 )
2016
58
Efficacy of magnesium chloride in the treatment of Hailey-Hailey disease: some further considerations. ( 26519325 )
2016
59
Good Response to Doxycycline in Hailey-Hailey Disease. ( 26810769 )
2016
60
The efficacy of botulinum toxin type A in the treatment of Hailey-Hailey disease. ( 26970226 )
2016
61
Papular acantholytic dyskeratosis of the vulva associated with familial Hailey-Hailey disease. ( 27028372 )
2016
62
Hailey-Hailey disease. ( 27057511 )
2016
63
Four novel ATP2C1 mutations in Chinese patients with Hailey-Hailey disease. ( 27095120 )
2016
64
ATP2C1 gene mutations in Hailey-Hailey disease and possible roles of SPCA1 isoforms in membrane trafficking. ( 27277681 )
2016
65
Glutathione S-transferase ϴ-subunit as a phenotypic suppressor of pmr1Δ strain, the Kluyveromyces lactis model for Hailey-Hailey disease. ( 27523793 )
2016
66
The loss of ATP2C1 impairs the DNA damage response and induces altered skin homeostasis: Consequences for epidermal biology in Hailey-Hailey disease. ( 27528123 )
2016
67
Hailey-Hailey disease. ( 27657314 )
2016
68
Novel clinical and molecular findings in Chinese families with Hailey-Hailey disease: an update. ( 27663161 )
2016
69
A case of bullous pemphigoid associated with psoriasis vulgaris showing Hailey-Hailey disease-like histopathological changes in regenerated epidermis without genomic mutation in ATP2C1 or ATP2A2 gene. ( 24750354 )
2015
70
Remission of refractory benign familial chronic pemphigus (hailey-hailey disease) with the addition of systemic cyclosporine. ( 25775626 )
2015
71
Benign familial pemphigus (Hailey-Hailey disease). ( 26990332 )
2015
72
Successful treatment of refractory Hailey-Hailey disease with a 595-nm pulsed dye laser: a series of 7 cases. ( 25773417 )
2015
73
The ATP2C1 gene in Hailey-Hailey disease patients: one novel deletion and one novel splicing mutation. ( 24981372 )
2015
74
Hailey-Hailey disease: investigation of a possible compensatory SERCA2 up-regulation and analysis of SPCA1, p63, and IRF6 expression. ( 25256005 )
2015
75
Laser therapy for the treatment of Hailey-Hailey disease: a systematic review with focus on carbon dioxide laser resurfacing. ( 25418614 )
2015
76
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
77
Hailey-Hailey disease with skin lesions at unusual sites and a good response to acitretin. ( 25566918 )
2015
78
Desmocollin-specific antibodies in a patient with Hailey-Hailey disease. ( 25580559 )
2015
79
Hailey-Hailey disease improved by fractional CO2 laser. ( 25602185 )
2015
80
Successful botulinum toxin (onabotulinumtoxinA) treatment of Hailey-Hailey disease. ( 25607910 )
2015
81
Oral glycopyrrolate for the treatment of Hailey-Hailey disease. ( 25651401 )
2015
82
Identification of several mutations in ATP2C1 in Lebanese families: insight into the pathogenesis of Hailey-Hailey disease. ( 25658765 )
2015
83
Successful treatment of hailey-hailey disease with aminolevulinic Acid photodynamic therapy. ( 25834370 )
2015
84
A family with atypical Hailey Hailey disease--is there more to the underlying genetics than ATP2C1? ( 25837627 )
2015
85
A recurrent melanocytic nevus phenomenon in the setting of Hailey-Hailey disease. ( 25950447 )
2015
86
Hailey-Hailey disease: A fold (intertriginous) dermatosis. ( 26051060 )
2015
87
A three-dimensional in vitro culture model of Hailey-Hailey disease. ( 26121994 )
2015
88
Carbon dioxide laser treatment for Hailey-Hailey disease: a retrospective chart review with patient-reported outcomes. ( 26341946 )
2015
89
Refractory Hailey-Hailey Disease That Responded Well to Photodynamic Therapy. ( 26387451 )
2015
90
Recalcitrant Hailey-Hailey disease responds to oral tacrolimus and botulinum toxin type A. ( 26761940 )
2015
91
Two novel ATP2C1 mutations in patients with Hailey-Hailey disease and a literature review of sequence variants reported in the Chinese population. ( 26782588 )
2015
92
Familial benign chronic pemphigus and doxycycline: a review of 6 cases. ( 23106313 )
2014
93
Hailey-Hailey disease diagnosed based on an exacerbation of contact dermatitis with topical crotamiton. ( 24721608 )
2014
94
Tzanck smear utilized in the diagnosis of Hailey-Hailey disease mimicking genital herpes. ( 24117014 )
2014
95
Remission of refractory benign familial chronic pemphigus (hailey-hailey disease) with the addition of systemic cyclosporine. ( 25278261 )
2014
96
Successful therapy of refractory Hailey-Hailey disease with oral alitretinoin. ( 23937159 )
2014
97
Efficacy of the melanocortin analogue Nle4-D-Phe7-α-melanocyte-stimulating hormone in the treatment of patients with Hailey-Hailey disease. ( 24256215 )
2014
98
Type 2 segmental Hailey-Hailey disease with systematized bilateral arrangement. ( 24320931 )
2014
99
Sibling cases of Hailey-Hailey disease showing atypical clinical features and unique disease course. ( 24352221 )
2014
100
Reflectance confocal microscopy as a non-invasive diagnostic tool for Hailey-Hailey disease. ( 24528151 )
2014
101
Using yeast to model calcium-related diseases: example of the Hailey-Hailey disease. ( 24583118 )
2014
102
Mutation-dependent effects on mRNA and protein expressions in cultured keratinocytes of Hailey-Hailey disease. ( 24698124 )
2014
103
Hailey-hailey disease responding to thalidomide. ( 24700941 )
2014
104
Successful treatment with narrow-band UVB therapy for a case of generalized Hailey-Hailey disease with a novel splice-site mutation in ATP2C1 gene. ( 24962025 )
2014
105
Hailey-Hailey disease. ( 25101346 )
2014
106
Combined therapeutic use of oral alitretinoin and narrowband ultraviolet-B therapy in the treatment of hailey-hailey disease. ( 25386331 )
2014
107
Hailey-Hailey disease associated with herpetic eczema-the value of the Tzanck smear test. ( 25396081 )
2014
108
Diagnostic value of nail examination in Hailey-Hailey disease. ( 25445094 )
2014
109
Reflectance confocal microscopy and Hailey-Hailey disease: assessment of response to treatment after CO2 laser ablation. ( 25482702 )
2014
110
Hailey-Hailey disease exacerbated by multiple pregnancies: case report and review of the literature. ( 25526005 )
2014
111
Hailey-Hailey disease and review of management. ( 25607561 )
2014
112
Painful erosions induced by patch testing in a patient with Hailey-Hailey disease. ( 22233195 )
2013
113
Successful therapeutic use of targeted narrow-band ultraviolet B therapy for refractory Hailey-Hailey disease. ( 22735754 )
2013
114
Papular acantholytic dermatosis in the genito-crural region: a localized form of Darier disease or Hailey-Hailey disease? ( 22995947 )
2013
115
Six novel mutations of ATP2C1 identified in eight Chinese patients with Hailey-Hailey disease. ( 23442470 )
2013
116
A novel ATP2C1 early truncation mutation suggests haploinsufficiency as a pathogenic mechanism in a patient with Hailey-Hailey disease. ( 23474827 )
2013
117
A familial case of Hailey-Hailey disease successfully treated with minocycline and nicotinamide. ( 23518512 )
2013
118
Carbon dioxide laser treatment in Hailey-Hailey disease: a series of 8 patients. ( 23582735 )
2013
119
Oral terbinafine as an alternative treatment for Hailey-Hailey disease. ( 23659757 )
2013
120
Hailey-hailey disease treated with topical tacalcitol. ( 24003293 )
2013
121
Hailey-hailey disease on sun-exposed areas. ( 24082234 )
2013
122
What's in a name?: Hailey-Hailey disease. ( 24132318 )
2013
123
Four novel mutations of the ATP2C1 gene in Chinese patients are associated with familial benign chronic pemphigus. ( 22607350 )
2012
124
Analysis of ATP2C1 gene mutations in Chinese patients with Hailey-Hailey disease. ( 21883398 )
2012
125
Detection and comparison of two types of ATP2C1 gene mutations in Chinese patients with Hailey-Hailey disease. ( 22124882 )
2012
126
Genitoperineal papular acantholytic dyskeratosis is allelic to Hailey-Hailey disease. ( 22229453 )
2012
127
Topical tacrolimus and 50% zinc oxide paste for Hailey-Hailey disease: less is more. ( 22293917 )
2012
128
Hailey-Hailey disease and tight junctions: Claudins 1 and 4 are regulated by ATP2C1 gene encoding Ca(2+) /Mn(2+) ATPase SPCA1 in cultured keratinocytes. ( 22639968 )
2012
129
A novel splice mutation in the ATP2C1 gene in a woman with concomitant psoriasis vulgaris and disseminated Hailey-Hailey disease. ( 22788811 )
2012
130
Hailey-Hailey disease treated with methotrexate. ( 22826719 )
2012
131
Acute generalized erythematous pustulosis occurring with Hailey-Hailey disease. ( 23008946 )
2012
132
Generalized Hailey-Hailey disease triggered by nonsteroidal antiinflammatory drug-induced rash: case report. ( 23069308 )
2012
133
Familial benign chronic pemphigus (Hailey-Hailey Disease): use of topical immunomodulators as a modern treatment option. ( 22051715 )
2011
134
A novel missense mutation of the ATP2C1 gene in a Chinese patient with Hailey-Hailey disease. ( 21329674 )
2011
135
Two patients with Hailey-Hailey disease, multiple primary melanomas, and other cancers. ( 21339448 )
2011
136
Cold atmospheric plasma: a successful treatment of lesions in Hailey-Hailey disease. ( 21482888 )
2011
137
Novel clinical and molecular findings in Chinese families with Hailey-Hailey disease. ( 21623880 )
2011
138
Ectopic facial Hailey-Hailey disease. ( 21679827 )
2011
139
Effective treatment of Hailey-Hailey disease with a long-pulsed (5 ms) alexandrite laser. ( 21692642 )
2011
140
Oxidative stress activation of miR-125b is part of the molecular switch for Hailey-Hailey disease manifestation. ( 21913998 )
2011
141
Refractory Hailey-Hailey disease successfully treated with sandpaper dermabrasion. ( 21980715 )
2011
142
Bullous Darier's disease mimicking Hailey-Hailey disease. ( 22984662 )
2011
143
Hailey-Hailey disease: A case treated with topical tacrolimus. ( 23130220 )
2011
144
Laser therapy for Hailey-Hailey disease: review of the literature and a case report. ( 25386280 )
2011
145
A case of Hailey-Hailey disease in an infant with a new ATP2C1 gene mutation. ( 20403116 )
2011
146
Segmental multilayered argon plasma coagulation: effective therapy option for perianal and scrotal Hailey-Hailey disease. ( 20478009 )
2011
147
Hailey-Hailey disease: effective treatment with topical cadexomer iodine. ( 20673150 )
2011
148
Familial benign chronic pemphigus (Hailey-Hailey disease). ( 21163165 )
2010
149
Benign familial pemphigus (Hailey-Hailey disease) responsive to low dose cyclosporine. ( 20657133 )
2010
150
Dermoscopy of longitudinal leukonychia in Hailey-Hailey disease. ( 20956678 )
2010
151
Hailey-Hailey disease treatment with Botulinum toxin type A. ( 21152802 )
2010
152
Methotrexate for refractory Hailey-Hailey disease. ( 19627406 )
2010
153
Complex multipathways alterations and oxidative stress are associated with Hailey-Hailey disease. ( 19903178 )
2010
154
Persistent improvement of previously recalcitrant Hailey-Hailey disease with electron beam radiotherapy. ( 20169303 )
2010
155
Six novel ATP2C1 mutations identified in Chinese patients with Hailey-Hailey disease. ( 20226632 )
2010
156
Heterogeneous mutations of the ATP2C1 gene causing Hailey-Hailey disease in Hong Kong Chinese. ( 20236194 )
2010
157
Hailey-Hailey disease in Tunisia. ( 20465693 )
2010
158
Squamous cell carcinoma arising from a localized vulval lesion of Hailey-Hailey disease after tacrolimus therapy. ( 20816142 )
2010
159
[Benign familial chronic pemphigus (Hailey-Hailey disease). Treatment with carbon dioxide laser]. ( 20390242 )
2010
160
Development of familial benign chronic pemphigus in a patient undergoing treatment with efalizumab for psoriasis. ( 18759787 )
2009
161
Familial benign chronic pemphigus (Hailey-Hailey disease). ( 19891923 )
2009
162
A case of eczema herpeticum with hailey-hailey disease. ( 20523813 )
2009
163
A novel mutation in the ATP2C1 gene is associated with Hailey-Hailey disease in a Chinese family. ( 19126050 )
2009
164
Acantholytic dermatosis of the crural folds with ATP2C1 mutation is a possible variant of Hailey-Hailey Disease. ( 19426624 )
2009
165
Successful treatment of Hailey-Hailey disease with topical 5-fluorouracil. ( 19663874 )
2009
166
Genetic diagnosis of Hailey-Hailey disease in two Chinese families: novel mutations in the ATP2C1 gene. ( 20055875 )
2009
167
Hailey-Hailey disease from a clinical perspective. ( 17707506 )
2008
168
A case report of Hailey-Hailey disease treated with alefacept (Amevive). ( 17941942 )
2008
169
Three novel ATP2C1 mutations in Chinese patients with Hailey-Hailey disease. ( 18205868 )
2008
170
A novel deletion mutation of the ATP2C1 gene in Chinese patients with Hailey-Hailey disease. ( 18211433 )
2008
171
Genetic diagnosis in a Chinese Hailey-Hailey disease pedigree with novel ATP2C1 gene mutation. ( 18259764 )
2008
172
Hailey-Hailey disease: a novel mutation of the ATP2C1 gene in a Taiwanese family with divergent clinical presentation. ( 18266684 )
2008
173
Molecular and clinical characterization in Japanese and Korean patients with Hailey-Hailey disease: six new mutations in the ATP2C1 gene. ( 18372165 )
2008
174
Experience with photodynamic therapy in Hailey-Hailey disease. ( 18608733 )
2008
175
Longitudinal leukonychia in Hailey-Hailey Disease: a sign not to be missed. ( 18627718 )
2008
176
Botulinum toxin type A as an adjuvant treatment modality for extensive Hailey-Hailey disease. ( 18629693 )
2008
177
Diagnosis of Hailey-Hailey disease facilitated by DNA testing: a novel mutation in ATP2C1. ( 18709316 )
2008
178
Supernumerary nipples in association with Hailey-Hailey disease in a Tunisian family. ( 18713596 )
2008
179
Perianal Hailey-Hailey disease: an unusual differential diagnosis of condylomata acuminata. ( 18931279 )
2008
180
Hailey-hailey disease: a novel method of management by radiofrequency surgery. ( 20300352 )
2008
181
[Mutation detection of ATP2C1 gene in Chinese patients with Hailey-Hailey disease]. ( 18247307 )
2008
182
Human papillomavirus type 5 infection in a patient with Hailey-Hailey disease successfully treated with imiquimod. ( 17300256 )
2007
183
Effective treatment of recalcitrant Hailey-Hailey disease with electron beam radiotherapy. ( 17374007 )
2007
184
Two novel mutations of the ATP2C1 gene in Chinese patients with Hailey-Hailey disease. ( 17503064 )
2007
185
Fixed and soluble immune complexes in the epidermis in Hailey-Hailey disease. ( 17535412 )
2007
186
Successful treatment of Hailey-Hailey disease with acitretin. ( 17763599 )
2007
187
Eight novel mutations of ATP2C1 identified in 17 Chinese families with Hailey-Hailey disease. ( 17911984 )
2007
188
Darier disease and Hailey-Hailey disease. ( 18060195 )
2007
189
A case of bullous Darier's disease histologically mimicking Hailey-Hailey disease. ( 18328222 )
2007
190
[Identification of a novel mutation in the ATP2C1 gene in a Chinese pedigree with Hailey-Hailey disease]. ( 17536260 )
2007
191
Oesophageal involvement in familial benign chronic pemphigus. ( 16710588 )
2006
192
Bacterial infection-induced generalized Hailey-Hailey disease successfully treated by etretinate. ( 16309483 )
2006
193
Aminoglycosides as potential pharmacogenetic agents in the treatment of Hailey-Hailey disease. ( 16417242 )
2006
194
Novel mutation in ATP2C1 gene in a Japanese patient with Hailey-Hailey disease. ( 16484827 )
2006
195
Two novel mutations of the ATP2C1 gene in Chinese families with Hailey-Hailey disease. ( 16540292 )
2006
196
Hailey-Hailey disease with affective disorder: report of a case with novel ATP2C1 gene mutation. ( 16644186 )
2006
197
Anaesthesia in patient with Hailey-Hailey disease. ( 16674646 )
2006
198
Mutations in the ATP2C1 gene in Chinese patients with Hailey-Hailey disease. ( 16901313 )
2006
199
Presence of human papillomavirus type 6 DNA in the perineal verrucoid lesions of Hailey-Hailey disease. ( 17062074 )
2006
200
Disseminated Hailey-Hailey disease treated with topical tacrolimus and oral erythromycin: Case report and review of the literature. ( 17311740 )
2006
201
Detection of ATP2C1 gene mutation in familial benign chronic pemphigus. ( 16463682 )
2005
202
Hailey-Hailey disease exacerbated by scabies. ( 15863873 )
2005
203
'Atypical' cases of hailey-hailey disease may represent typical examples of a type 2 segmental manifestation. ( 15785043 )
2005
204
Hailey-Hailey disease as an orthodisease of PMR1 deficiency in Saccharomyces cerevisiae. ( 15811312 )
2005
205
Severe impairment of quality of life in Hailey-Hailey disease. ( 15823906 )
2005
206
Hailey-Hailey disease responsive to topical calcitriol. ( 15840130 )
2005
207
Transcriptional regulation of ATP2C1 gene by Sp1 and YY1 and reduced function of its promoter in Hailey-Hailey disease keratinocytes. ( 15955096 )
2005
208
Keratinocytes cultured from patients with Hailey-Hailey disease and Darier disease display distinct patterns of calcium regulation. ( 16029335 )
2005
209
Undiagnosed Hailey-Hailey disease causing painful erosive skin changes during patch testing. ( 16029372 )
2005
210
Novel mutations in the ATP2C1 gene in two patients with Hailey-Hailey disease. ( 16045696 )
2005
211
Hailey-Hailey disease failing to respond to treatment. ( 16045714 )
2005
212
Expression of SPCA1 (Hailey-Hailey disease gene product) in acantholytic dermatoses. ( 16199140 )
2005
213
ATP2C1 gene mutation analysis in Italian patients with Hailey-Hailey disease. ( 16297192 )
2005
214
Topical tacrolimus in Hailey-Hailey disease. ( 16440577 )
2005
215
[The first genetically supported case of chronic benign pemphigus (Hailey-Hailey disease in Hungary]. ( 16255378 )
2005
216
Smoothbeam laser treatment may help improve hidradenitis suppurativa but not Hailey-Hailey disease. ( 15545102 )
2004
217
Treatment of Hailey-Hailey disease with tacrolimus ointment and clobetasol propionate foam. ( 15098980 )
2004
218
Calcium pumps and keratinocytes: lessons from Darier's disease and Hailey-Hailey disease. ( 15149492 )
2004
219
Hailey-Hailey disease: identification of novel mutations in ATP2C1 and effect of missense mutation A528P on protein expression levels. ( 15191544 )
2004
220
SPCA1 pumps and Hailey-Hailey disease. ( 15336968 )
2004
221
Treatment of Hailey-Hailey disease with topical calcitriol. ( 15337998 )
2004
222
Is topical tacrolimus really an effective therapy for Hailey-Hailey disease? ( 15492199 )
2004
223
Allelic loss underlies type 2 segmental Hailey-Hailey disease, providing molecular confirmation of a novel genetic concept. ( 15545997 )
2004
224
Yeast researchers consider Hailey-Hailey disease. ( 15610504 )
2004
225
Expression of Hailey-Hailey disease mutations in yeast. ( 15610533 )
2004
226
Hailey-Hailey disease and calcium: lessons from yeast. ( 15610534 )
2004
227
Effect of Hailey-Hailey Disease mutations on the function of a new variant of human secretory pathway Ca2+/Mn2+-ATPase (hSPCA1). ( 12707275 )
2003
228
Was Henri Gougerot the first to describe "Hailey-Hailey Disease"? ( 12775990 )
2003
229
Four novel mutations in ATP2C1 found in Chinese patients with Hailey-Hailey disease. ( 14510977 )
2003
230
Type 1 segmental manifestation of Hailey-Hailey disease. ( 14512922 )
2003
231
Topical tacrolimus ointment is an effective therapy for Hailey-Hailey disease. ( 14623698 )
2003
232
[Study on gene mutation in 11 Chinese families with Hailey-Hailey disease]. ( 12947555 )
2003
233
Photodynamic therapy with 5-aminolevulinic acid for recalcitrant familial benign pemphigus (Hailey-Hailey disease). ( 12399767 )
2002
234
Functional expression in yeast of the human secretory pathway Ca(2+), Mn(2+)-ATPase defective in Hailey-Hailey disease. ( 11741891 )
2002
235
Hailey-Hailey disease: molecular and clinical characterization of novel mutations in the ATP2C1 gene. ( 11841554 )
2002
236
Analysis of ATP2C1 gene mutation in 10 unrelated Japanese families with Hailey-Hailey disease. ( 11874499 )
2002
237
Mutation analysis of ATP2C1 gene in Taiwanese patients with Hailey-Hailey disease. ( 11966689 )
2002
238
Botulinum toxin type A as an effective adjuvant therapy for Hailey-Hailey disease. ( 12081692 )
2002
239
Acute generalized Hailey-Hailey disease. ( 12139673 )
2002
240
Hailey-Hailey disease on sun-exposed areas. ( 12390681 )
2002
241
Effective treatment of Hailey-Hailey disease with topical tacrolimus. ( 12399782 )
2002
242
Upregulation of P-cadherin expression in the lesional skin of pemphigus, Hailey-Hailey disease and Darier's disease. ( 11401672 )
2001
243
Hailey-Hailey disease: exacerbation by scabies. ( 11167724 )
2001
244
Contact irritation provoking Hailey-hailey disease. ( 11417525 )
2001
245
A case of generalized Hailey-Hailey disease with fatal liver injury. ( 11450592 )
2001
246
Mutations of ATP2C1 in Japanese patients with Hailey-Hailey disease: intrafamilial and interfamilial phenotype variations and lack of correlation with mutation patterns. ( 11886536 )
2001
247
Intracutaneous botulinum toxin A versus ablative therapy of Hailey-Hailey disease--a case report. ( 12554326 )
2001
248
Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease. ( 10615129 )
2000
249
Successful treatment of Hailey-Hailey disease with a scanned carbon dioxide laser. ( 10721838 )
2000
250
Squamous cell carcinoma arising in Hailey-Hailey disease of the vulva. ( 10735968 )
2000
251
Botulinum toxin type A for the treatment of axillary Hailey-Hailey disease. ( 10759827 )
2000
252
Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca(2+) pump. ( 10767338 )
2000
253
Dissociation of intra- and extracellular domains of desmosomal cadherins and E-cadherin in Hailey-Hailey disease and Darier's disease. ( 10792220 )
2000
254
Type 2 segmental manifestation of Hailey-Hailey disease: poor therapeutic response to dermabrasion is due to severe involvement of adnexal structures. ( 10846251 )
2000
255
Squamous cell carcinoma arising in Hailey-Hailey disease. ( 10901726 )
2000
256
Coexistence of psoriasis and familial benign chronic pemphigus: efficacy of ultraviolet B treatment. ( 10233250 )
1999
257
Clinical analysis of 69 patients with familial benign chronic pemphigus. ( 11601291 )
1999
258
Internalization of gap junctions in benign familial pemphigus (Hailey-Hailey disease) and keratosis follicularis (Darier's disease). ( 10468792 )
1999
259
Treatment of Hailey-Hailey disease (or benign familial pemphigus) using short pulsed and short dwell time carbon dioxide lasers. ( 10491050 )
1999
260
Efficacy of erbium:YAG laser ablation in Darier disease and Hailey-Hailey disease. ( 10206049 )
1999
261
Human papillomavirus types 16 and 39 in a vulval carcinoma occurring in a woman with Hailey-Hailey disease. ( 10233276 )
1999
262
Benign familial pemphigus (Hailey-Hailey disease). Treatment with the pulsed carbon dioxide laser. ( 9865214 )
1998
263
Ultrastructural localization of cell junctional components (desmoglein, plakoglobin, E-cadherin, and beta-catenin) in Hailey-Hailey disease, Darier's disease, and pemphigus vulgaris. ( 9521500 )
1998
264
1alpha,24-dihydroxyvitamin D3 (tacalcitol) is effective against Hailey-Hailey disease both in vivo and in vitro. ( 9892963 )
1998
265
The simultaneous occurrence of Hailey-Hailey disease, Graves' disease and multiple sclerosis in the same patient. ( 9228239 )
1997
266
Dominantly inherited epidermal acantholysis in dogs, simulating human benign familial chronic pemphigus (Hailey-Hailey disease). ( 9068730 )
1997
267
Conjunctival involvement in familial chronic benign pemphigus (Hailey-Hailey disease). ( 9169328 )
1997
268
Hailey-Hailey disease with acrokeratosis verruciformis Hopf. ( 8740277 )
1996
269
Hailey-Hailey disease keratinocytes: normal assembly of cell-cell junctions in vitro. ( 8941678 )
1996
270
Vesiculobullous Hailey-Hailey disease: successful treatment with oral retinoids. ( 8961587 )
1996
271
Handicap in Darier's disease and Hailey-Hailey disease. ( 8977719 )
1996
272
Involvement of the adherens junction-actin filament system in acantholytic dyskeratosis of Hailey-Hailey disease. A histological, ultrastructural, and histochemical study of lesional and non-lesional skin. ( 8793655 )
1996
273
Hailey-Hailey disease maps to a 5 cM interval on chromosome 3q21-q24. ( 7665912 )
1995
274
Benign familial chronic pemphigus (Hailey-Hailey disease) responds to cyclosporin. ( 7671404 )
1995
275
Bullous drug eruption to griseofulvin in a man with Hailey-Hailey disease. ( 8565613 )
1995
276
Narrowing of the Hailey-Hailey disease gene region on chromosome 3q and identification of one kindred with a deletion in this region. ( 8595906 )
1995
277
Hailey-Hailey disease is not allelic to Darier's disease. ( 7516400 )
1994
278
Localization of the gene whose mutations underlie Hailey-Hailey disease to chromosome 3q. ( 7981684 )
1994
279
Hailey-Hailey disease. Eradication by dermabrasion. ( 8085869 )
1994
280
Eczema herpeticum in association with familial benign chronic pemphigus. ( 8432925 )
1993
281
Hailey-Hailey disease masquerading as candidiasis. ( 8103482 )
1993
282
Hailey-Hailey disease of the vulva. ( 8215508 )
1993
283
Successful management of Hailey-Hailey disease with potent topical steroid ointment. ( 8241075 )
1993
284
Familial cosegregation of affective disorder and Hailey-Hailey disease. ( 8353676 )
1993
285
Treatment of Hailey-Hailey disease by dermabrasion. ( 8496429 )
1993
286
Familial benign chronic pemphigus (Hailey-Hailey disease). Treatment with carbon dioxide laser vaporization. ( 1575528 )
1992
287
Genital benign chronic pemphigus (Hailey-Hailey disease) presenting as condylomas. ( 1607414 )
1992
288
Topical cyclosporine in chronic benign familial pemphigus (Hailey-Hailey disease). ( 1401318 )
1992
289
Adhesion molecules and related proteins in Darier's disease and Hailey-Hailey disease. ( 1419753 )
1992
290
Hailey-Hailey disease--exacerbation by herpes simplex virus and patch tests. ( 1451302 )
1992
291
Seborrhoeic dermatitis of the scalp--a manifestation of Hailey-Hailey disease in a predisposed individual? ( 1532504 )
1992
292
Hailey-Hailey disease: the clinical features, response to treatment and prognosis. ( 1554604 )
1992
293
Dermabrasion of Hailey-Hailey disease and Darier's disease. ( 1619066 )
1992
294
No significant change of glycoconjugates exists in the epidermis of familial benign chronic pemphigus. ( 1723871 )
1991
295
Cell adhesion in Hailey-Hailey disease and Darier's disease: immunocytological and explant-tissue-culture studies. ( 1751348 )
1991
296
Surgical management of Hailey-Hailey disease. ( 1918483 )
1991
297
An immunohistological study of desmosomes in Darier's disease and Hailey-Hailey disease. ( 2018730 )
1991
298
Hailey-Hailey disease: a widespread abnormality of cell adhesion. ( 2025553 )
1991
299
Darier's disease, familial benign chronic pemphigus (Hailey-Hailey disease) and contact hypersensitivity. ( 2137137 )
1990
300
Familial benign chronic pemphigus (Hailey-Hailey disease) and contact allergies. ( 2145330 )
1990
301
Carbon dioxide laser vaporization of recalcitrant symptomatic plaques of Hailey-Hailey disease and Darier's disease. ( 2123894 )
1990
302
Contact allergies in patients with familial benign chronic pemphigus (Hailey-Hailey disease) ( 2528572 )
1989
303
Reproduction of the characteristic morphologic changes of familial benign chronic pemphigus in cultures of lesional keratinocytes onto dead deepidermized dermis. ( 2808832 )
1989
304
Histologic findings of Hailey-Hailey disease in a patient with bullous pemphigoid. ( 2681296 )
1989
305
Wide excision of perineal Hailey-Hailey disease with healing by secondary intention. ( 2702374 )
1989
306
Unusual presentation of familial benign chronic pemphigus. ( 3410673 )
1988
307
Squamous cell carcinoma arising in Hailey-Hailey disease. ( 3183139 )
1988
308
[Hailey-Hailey disease with dissemination and eczema herpeticatum in therapy with etretinate]. ( 2975644 )
1988
309
Carbon dioxide laserabrasion: a new approach to management of familial benign chronic pemphigus (Hailey-Hailey disease). ( 3117856 )
1987
310
Familial benign chronic pemphigus. ( 3551656 )
1987
311
Familial benign chronic pemphigus. ( 3802913 )
1987
312
Surgical control of Hailey-Hailey disease. ( 3318985 )
1987
313
Herpes simplex associated with Hailey-Hailey disease. ( 3668020 )
1987
314
Familial benign chronic pemphigus generalized by Pseudomonas infection. ( 3549826 )
1986
315
Relapsing linear acantholytic dermatosis. ( 3978039 )
1985
316
Familial benign chronic pemphigus appearing as leukoplakia of the vulva. ( 6500799 )
1984
317
Hailey-Hailey disease--case report. ( 6672559 )
1983
318
Hailey-Hailey disease: response to vitamin E therapy. ( 6859881 )
1983
319
Vaginal involvement in familial benign chronic pemphigus (Morbus Hailey-Hailey). ( 6175148 )
1982
320
"Familial benign chronic pemphigus" by Hailey and Hailey, April 1939. Commentary: Hailey-Hailey disease, familial benign chronic pemphigus. ( 6753757 )
1982
321
Familial benign chronic pemphigus. ( 6753764 )
1982
322
Surgical management of familial benign chronic pemphigus (Hailey-Hailey disease) by excision and primary closure. ( 7096674 )
1982
323
Surgical management of familial benign chronic pemphigus by excision and primary closure. ( 7149568 )
1982
324
Isolated perianal verrucoid familial benign chronic pemphigus. ( 7172747 )
1982
325
Surgical treatment of familial benign chronic pemphigus. ( 7027965 )
1981
326
Atypical familial benign chronic pemphigus. ( 7238118 )
1981
327
Hailey-Hailey disease. Report of a case treated surgically. ( 7030648 )
1981
328
Generalized familial benign chronic pemphigus. ( 7398981 )
1980
329
Surgical management of Hailey-Hailey disease: report of a case. ( 7410688 )
1980
330
Keratosis follicularis and familial benign chronic pemphigus in the same patient. ( 478073 )
1979
331
Ultraviolet light in familial benign chronic pemphigus. ( 521531 )
1979
332
Disrupted desmosomes in induced lesions of familial benign chronic pemphigus. ( 521532 )
1979
333
Simultaneous occurrence of familial benign chronic pemphigus (Hailey-Hailey disease) and syringoma on the vulva. ( 646408 )
1978
334
Generalized Hailey-Hailey disease. ( 708629 )
1978
335
Bi-directional isomorphism: coexistence of psoriasis vulgaris and familial benign chronic pemphigus. ( 869558 )
1977
336
Isolated familial benign chronic pemphigus. ( 900981 )
1977
337
Familial benign chronic pemphigus (Hailey-Hailey disease). ( 993398 )
1976
338
Familial benign chronic pemphigus: report of a case. ( 1044653 )
1976
339
Treatment of familial benign chronic pemphigus by skin grafting. ( 52977 )
1975
340
Surgical management of familial benign chronic pemphigus. Case report. ( 4605192 )
1974
341
Esophageal involvement in familial benign chronic pemphigus. ( 4828539 )
1974
342
Superinfection induced by antibiotics in familial benign chronic pemphigus. ( 4120810 )
1973
343
Familial benign chronic pemphigus. A papular variant. ( 4764714 )
1973
344
Familial benign chronic pemphigus. ( 5060881 )
1972
345
Hailey-Hailey disease in a black family. ( 4639937 )
1972
346
Familial benign chronic pemphigus. Surgical treatment and pathogenesis. ( 4939904 )
1971
347
Familial benign chronic pemphigus. The role of trauma including contact sensitivity. ( 5093171 )
1971
348
Familial benign chronic pemphigus of perianal skin. ( 5552347 )
1971
349
Hailey-Hailey disease (chronic benign familial pemphigus). ( 5173285 )
1971
350
Microbial flora in familial benign chronic pemphigus. ( 5413251 )
1970
351
Familial Benign Chronic Pemphigus (hailey & Hailey). ( 29160258 )
1970
352
Hailey-hailey disease--an electron microcopic study. ( 5440021 )
1970
353
Histochemical study of oxidative enzymes and cysteine desulfurase in familiar benign chronic pemphigus and Darier's disease. ( 4390259 )
1969
354
Surgical eradication of familial benign chronic pemphigus from the axillae. Report of a case. ( 5822368 )
1969
355
Familial Benign Chronic Pemphigus of Hailey and Hailey. ( 29176124 )
1969
356
Surgical treatment of familial chronic pemphigus (Hailey-Hailey disease). Report of a case. ( 5684227 )
1968
357
Ultraviolet-induced acantholysis in familial benign chronic pemphigus. Detection of the forme fruste. ( 6075780 )
1967
358
Hailey-Hailey disease. ( 6037931 )
1967
359
Familial benign chronic pemphigus. ( 5910874 )
1966
360
KERATOSIS FOLLICULARIS (DARIER) AND FAMILIAL BENIGN CHRONIC PEMPHIGUS (HAILEY-HAILEY) IN THE SAME PATIENT. ( 14252680 )
1965
361
Familial benign chronic pemphigus: the role of pyogenic bacteria. ( 14417924 )
1959
362
Familial benign chronic pemphigus. ( 14435605 )
1959
363
Grenz-ray treatment of familial benign chronic pemphigus. ( 14441748 )
1959
364
Specific systemic antibiotic therapy in familial benign chronic pemphigus. ( 14445788 )
1959
365
Atypical features in familial benign chronic pemphigus. ( 13582186 )
1958
366
Familial benign chronic pemphigus (Hailey-Hailey) in Negroes. ( 13410137 )
1957
367
Familial benign chronic pemphigus (Hailey-Hailey). ( 13196889 )
1954
368
Familial benign chronic pemphigus; report thirteen years after first observation of a new entity. ( 13076803 )
1953
369
Familial benign chronic pemphigus (Hailey and Hailey) treated with cortisone. ( 13079526 )
1953
370
Treatment of familial benign chronic pemphigus (Hailey and Hailey syndrome); rapid healing with aureomycin. ( 14770494 )
1950
371
Sisters with familial benign chronic pemphigus (Gougerot, Hailey and Hailey). ( 15440776 )
1950
372
Familial Benign Chronic Pemphigus (Hailey-Hailey). ( 19993725 )
1950
373
Case of familial benign chronic pemphigus. ( 18118477 )
1949
374
A case of familial benign chronic pemphigus. ( 18119943 )
1949
375
Familial benign chronic pemphigus (Hailey and Hailey disease). ( 18147171 )
1949
376
Familial benign chronic pemphigus (Hailey). ( 18100973 )
1948
377
Treatment of familial benign chronic pemphigus; rapid improvement with penicillin therapy. ( 18110536 )
1948
378
Familial benign chronic pemphigus; report of a case. ( 18932956 )
1948
379
Bullous dyskeratosis (familial benign chronic pemphigus). ( 20240703 )
1947
380
A case for diagnosis (familial benign chronic pemphigus; erythema annulare centrifugum?). ( 20341240 )
1946
381
Familial benign chronic pemphigus. ( 21015829 )
1946

Variations for Benign Chronic Pemphigus

UniProtKB/Swiss-Prot genetic disease variations for Benign Chronic Pemphigus:

76 (showing 20, show less)
# 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 rs128223288
16 ATP2C1 p.Asp742Tyr VAR_022676
17 ATP2C1 p.Gly789Arg VAR_022677
18 ATP2C1 p.Gly220Glu VAR_079698
19 ATP2C1 p.Gly309Val VAR_079699 rs139357083
20 ATP2C1 p.Ala731Asp VAR_079702

ClinVar genetic disease variations for Benign Chronic Pemphigus:

6 (showing 95, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 ATP2C1 NM_001001486.1(ATP2C1): c.769_772dup (p.Leu258Profs) duplication Pathogenic GRCh37 Chromosome 3, 130674960: 130674963
2 ATP2C1 NM_001001486.1(ATP2C1): c.769_772dup (p.Leu258Profs) duplication Pathogenic GRCh38 Chromosome 3, 130956116: 130956119
3 ATP2C1 NM_001001486.1(ATP2C1): c.910G> A (p.Ala304Thr) single nucleotide variant Pathogenic rs137853012 GRCh37 Chromosome 3, 130682825: 130682825
4 ATP2C1 NM_001001486.1(ATP2C1): c.910G> A (p.Ala304Thr) single nucleotide variant Pathogenic rs137853012 GRCh38 Chromosome 3, 130963981: 130963981
5 ATP2C1 NM_001001486.1(ATP2C1): c.1402C> T (p.Arg468Ter) single nucleotide variant Pathogenic rs137853013 GRCh37 Chromosome 3, 130688229: 130688229
6 ATP2C1 NM_001001486.1(ATP2C1): c.1402C> T (p.Arg468Ter) single nucleotide variant Pathogenic rs137853013 GRCh38 Chromosome 3, 130969385: 130969385
7 ATP2C1 NM_001001486.1(ATP2C1): c.900-1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 3, 130682814: 130682814
8 ATP2C1 NM_001001486.1(ATP2C1): c.900-1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 3, 130963970: 130963970
9 ATP2C1 NM_001001486.1(ATP2C1): c.1469G> T (p.Cys490Phe) single nucleotide variant Pathogenic rs137853014 GRCh37 Chromosome 3, 130694231: 130694231
10 ATP2C1 NM_001001486.1(ATP2C1): c.1469G> T (p.Cys490Phe) single nucleotide variant Pathogenic rs137853014 GRCh38 Chromosome 3, 130975387: 130975387
11 ATP2C1 NM_001001486.1(ATP2C1): c.2460del (p.Met820Ilefs) deletion Pathogenic GRCh38 Chromosome 3, 130998362: 130998362
12 ATP2C1 NM_001001486.1(ATP2C1): c.2460del (p.Met820Ilefs) deletion Pathogenic GRCh37 Chromosome 3, 130717206: 130717206
13 ATP2C1 NM_001001486.1(ATP2C1): c.1751T> C (p.Leu584Pro) single nucleotide variant Pathogenic rs137853015 GRCh37 Chromosome 3, 130699435: 130699435
14 ATP2C1 NM_001001486.1(ATP2C1): c.1751T> C (p.Leu584Pro) single nucleotide variant Pathogenic rs137853015 GRCh38 Chromosome 3, 130980591: 130980591
15 ATP2C1 ATP2C1, IVS22, G-A, +1 single nucleotide variant Pathogenic
16 ATP2C1 NM_014382.3(ATP2C1): c.-66C> T single nucleotide variant Uncertain significance rs886057979 GRCh38 Chromosome 3, 130894704: 130894704
17 ATP2C1 NM_014382.3(ATP2C1): c.-66C> T single nucleotide variant Uncertain significance rs886057979 GRCh37 Chromosome 3, 130613548: 130613548
18 ATP2C1 NM_014382.3(ATP2C1): c.585T> C (p.Cys195=) single nucleotide variant Likely benign rs2760272 GRCh38 Chromosome 3, 130953874: 130953874
19 ATP2C1 NM_014382.3(ATP2C1): c.585T> C (p.Cys195=) single nucleotide variant Likely benign rs2760272 GRCh37 Chromosome 3, 130672718: 130672718
20 ATP2C1 NM_014382.3(ATP2C1): c.996G> A (p.Val332=) single nucleotide variant Uncertain significance rs886057982 GRCh38 Chromosome 3, 130964067: 130964067
21 ATP2C1 NM_014382.3(ATP2C1): c.996G> A (p.Val332=) single nucleotide variant Uncertain significance rs886057982 GRCh37 Chromosome 3, 130682911: 130682911
22 ATP2C1 NM_014382.3(ATP2C1): c.1683C> T (p.Ala561=) single nucleotide variant Likely benign rs114319700 GRCh38 Chromosome 3, 130979361: 130979361
23 ATP2C1 NM_014382.3(ATP2C1): c.1683C> T (p.Ala561=) single nucleotide variant Likely benign rs114319700 GRCh37 Chromosome 3, 130698205: 130698205
24 ATP2C1 NM_014382.3(ATP2C1): c.2598G> A (p.Lys866=) single nucleotide variant Benign rs16835513 GRCh38 Chromosome 3, 130999628: 130999628
25 ATP2C1 NM_014382.3(ATP2C1): c.2598G> A (p.Lys866=) single nucleotide variant Benign rs16835513 GRCh37 Chromosome 3, 130718472: 130718472
26 ATP2C1 NM_014382.3(ATP2C1): c.*127A> G single nucleotide variant Uncertain significance rs767826698 GRCh38 Chromosome 3, 131001477: 131001477
27 ATP2C1 NM_014382.3(ATP2C1): c.*127A> G single nucleotide variant Uncertain significance rs767826698 GRCh37 Chromosome 3, 130720321: 130720321
28 ATP2C1 NM_014382.3(ATP2C1): c.-213C> A single nucleotide variant Likely benign rs181664730 GRCh38 Chromosome 3, 130894557: 130894557
29 ATP2C1 NM_014382.3(ATP2C1): c.-213C> A single nucleotide variant Likely benign rs181664730 GRCh37 Chromosome 3, 130613401: 130613401
30 ATP2C1 NM_014382.3(ATP2C1): c.-64A> G single nucleotide variant Uncertain significance rs886057980 GRCh38 Chromosome 3, 130894706: 130894706
31 ATP2C1 NM_014382.3(ATP2C1): c.-64A> G single nucleotide variant Uncertain significance rs886057980 GRCh37 Chromosome 3, 130613550: 130613550
32 ATP2C1 NM_014382.3(ATP2C1): c.135T> C (p.Gly45=) single nucleotide variant Uncertain significance rs753216597 GRCh38 Chromosome 3, 130932039: 130932039
33 ATP2C1 NM_014382.3(ATP2C1): c.135T> C (p.Gly45=) single nucleotide variant Uncertain significance rs753216597 GRCh37 Chromosome 3, 130650883: 130650883
34 ATP2C1 NM_014382.3(ATP2C1): c.532-6C> T single nucleotide variant Uncertain significance rs886057981 GRCh38 Chromosome 3, 130953815: 130953815
35 ATP2C1 NM_014382.3(ATP2C1): c.532-6C> T single nucleotide variant Uncertain significance rs886057981 GRCh37 Chromosome 3, 130672659: 130672659
36 ATP2C1 NM_014382.3(ATP2C1): c.636G> A (p.Ser212=) single nucleotide variant Benign rs6810181 GRCh38 Chromosome 3, 130953925: 130953925
37 ATP2C1 NM_014382.3(ATP2C1): c.636G> A (p.Ser212=) single nucleotide variant Benign rs6810181 GRCh37 Chromosome 3, 130672769: 130672769
38 ATP2C1 NM_014382.3(ATP2C1): c.1348G> A (p.Ala450Thr) single nucleotide variant Likely benign rs41434650 GRCh38 Chromosome 3, 130969331: 130969331
39 ATP2C1 NM_014382.3(ATP2C1): c.1348G> A (p.Ala450Thr) single nucleotide variant Likely benign rs41434650 GRCh37 Chromosome 3, 130688175: 130688175
40 ATP2C1 NM_014382.3(ATP2C1): c.1840-12G> A single nucleotide variant Likely benign rs201666095 GRCh38 Chromosome 3, 130992939: 130992939
41 ATP2C1 NM_014382.3(ATP2C1): c.1840-12G> A single nucleotide variant Likely benign rs201666095 GRCh37 Chromosome 3, 130711783: 130711783
42 ATP2C1 NM_014382.3(ATP2C1): c.2057+7T> A single nucleotide variant Uncertain significance rs368071107 GRCh38 Chromosome 3, 130994105: 130994105
43 ATP2C1 NM_014382.3(ATP2C1): c.2057+7T> A single nucleotide variant Uncertain significance rs368071107 GRCh37 Chromosome 3, 130712949: 130712949
44 ATP2C1 NM_014382.3(ATP2C1): c.2694T> C (p.Val898=) single nucleotide variant Uncertain significance rs886057983 GRCh38 Chromosome 3, 131001284: 131001284
45 ATP2C1 NM_014382.3(ATP2C1): c.2694T> C (p.Val898=) single nucleotide variant Uncertain significance rs886057983 GRCh37 Chromosome 3, 130720128: 130720128
46 ATP2C1 NM_014382.3(ATP2C1): c.*343T> A single nucleotide variant Uncertain significance rs777719092 GRCh38 Chromosome 3, 131001693: 131001693
47 ATP2C1 NM_014382.3(ATP2C1): c.*343T> A single nucleotide variant Uncertain significance rs777719092 GRCh37 Chromosome 3, 130720537: 130720537
48 ATP2C1 NM_014382.3(ATP2C1): c.*686G> A single nucleotide variant Likely benign rs150024961 GRCh38 Chromosome 3, 131002036: 131002036
49 ATP2C1 NM_014382.3(ATP2C1): c.*686G> A single nucleotide variant Likely benign rs150024961 GRCh37 Chromosome 3, 130720880: 130720880
50 ATP2C1 NM_014382.3(ATP2C1): c.*998C> T single nucleotide variant Likely benign rs116671177 GRCh38 Chromosome 3, 131002348: 131002348
51 ATP2C1 NM_014382.3(ATP2C1): c.*998C> T single nucleotide variant Likely benign rs116671177 GRCh37 Chromosome 3, 130721192: 130721192
52 ATP2C1 NM_014382.3(ATP2C1): c.*1203delC deletion Uncertain significance rs886057988 GRCh38 Chromosome 3, 131002553: 131002553
53 ATP2C1 NM_014382.3(ATP2C1): c.*1203delC deletion Uncertain significance rs886057988 GRCh37 Chromosome 3, 130721397: 130721397
54 ATP2C1 NM_014382.3(ATP2C1): c.*1204A> T single nucleotide variant Uncertain significance rs886057989 GRCh38 Chromosome 3, 131002554: 131002554
55 ATP2C1 NM_014382.3(ATP2C1): c.*1204A> T single nucleotide variant Uncertain significance rs886057989 GRCh37 Chromosome 3, 130721398: 130721398
56 ATP2C1 NM_014382.3(ATP2C1): c.*1214A> G single nucleotide variant Uncertain significance rs886057990 GRCh38 Chromosome 3, 131002564: 131002564
57 ATP2C1 NM_014382.3(ATP2C1): c.*1214A> G single nucleotide variant Uncertain significance rs886057990 GRCh37 Chromosome 3, 130721408: 130721408
58 ATP2C1 NM_014382.3(ATP2C1): c.*1564C> T single nucleotide variant Uncertain significance rs886057993 GRCh38 Chromosome 3, 131002914: 131002914
59 ATP2C1 NM_014382.3(ATP2C1): c.*1564C> T single nucleotide variant Uncertain significance rs886057993 GRCh37 Chromosome 3, 130721758: 130721758
60 ATP2C1 NM_014382.3(ATP2C1): c.-78_-77delTC deletion Uncertain significance rs886057978 GRCh38 Chromosome 3, 130894692: 130894693
61 ATP2C1 NM_014382.3(ATP2C1): c.-78_-77delTC deletion Uncertain significance rs886057978 GRCh37 Chromosome 3, 130613536: 130613537
62 ATP2C1 NM_014382.3(ATP2C1): c.6+15C> G single nucleotide variant Benign rs112703671 GRCh38 Chromosome 3, 130894790: 130894790
63 ATP2C1 NM_014382.3(ATP2C1): c.6+15C> G single nucleotide variant Benign rs112703671 GRCh37 Chromosome 3, 130613634: 130613634
64 ATP2C1 NM_014382.3(ATP2C1): c.117+7G> A single nucleotide variant Likely benign rs41266501 GRCh38 Chromosome 3, 130930533: 130930533
65 ATP2C1 NM_014382.3(ATP2C1): c.117+7G> A single nucleotide variant Likely benign rs41266501 GRCh37 Chromosome 3, 130649377: 130649377
66 ATP2C1 NM_014382.3(ATP2C1): c.531+10G> A single nucleotide variant Likely benign rs559826369 GRCh38 Chromosome 3, 130941709: 130941709
67 ATP2C1 NM_014382.3(ATP2C1): c.531+10G> A single nucleotide variant Likely benign rs559826369 GRCh37 Chromosome 3, 130660553: 130660553
68 ATP2C1 NM_014382.3(ATP2C1): c.1570+9A> G single nucleotide variant Likely benign rs199864073 GRCh38 Chromosome 3, 130975497: 130975497
69 ATP2C1 NM_014382.3(ATP2C1): c.1570+9A> G single nucleotide variant Likely benign rs199864073 GRCh37 Chromosome 3, 130694341: 130694341
70 ATP2C1 NM_014382.3(ATP2C1): c.*350delT deletion Likely benign rs200037424 GRCh38 Chromosome 3, 131001700: 131001700
71 ATP2C1 NM_014382.3(ATP2C1): c.*350delT deletion Likely benign rs200037424 GRCh37 Chromosome 3, 130720544: 130720544
72 ATP2C1 NM_014382.3(ATP2C1): c.*1820A> G single nucleotide variant Benign rs72628536 GRCh38 Chromosome 3, 131003170: 131003170
73 ATP2C1 NM_014382.3(ATP2C1): c.*946T> G single nucleotide variant Uncertain significance rs886057987 GRCh38 Chromosome 3, 131002296: 131002296
74 ATP2C1 NM_014382.3(ATP2C1): c.*946T> G single nucleotide variant Uncertain significance rs886057987 GRCh37 Chromosome 3, 130721140: 130721140
75 ATP2C1 NM_014382.3(ATP2C1): c.*1255G> A single nucleotide variant Uncertain significance rs886057991 GRCh38 Chromosome 3, 131002605: 131002605
76 ATP2C1 NM_014382.3(ATP2C1): c.*1255G> A single nucleotide variant Uncertain significance rs886057991 GRCh37 Chromosome 3, 130721449: 130721449
77 ATP2C1 NM_014382.3(ATP2C1): c.*1264T> C single nucleotide variant Uncertain significance rs886057992 GRCh38 Chromosome 3, 131002614: 131002614
78 ATP2C1 NM_014382.3(ATP2C1): c.*1264T> C single nucleotide variant Uncertain significance rs886057992 GRCh37 Chromosome 3, 130721458: 130721458
79 ATP2C1 NM_014382.3(ATP2C1): c.*1471T> A single nucleotide variant Uncertain significance rs878906207 GRCh38 Chromosome 3, 131002821: 131002821
80 ATP2C1 NM_014382.3(ATP2C1): c.*1471T> A single nucleotide variant Uncertain significance rs878906207 GRCh37 Chromosome 3, 130721665: 130721665
81 ATP2C1 NM_014382.3(ATP2C1): c.*1820A> G single nucleotide variant Benign rs72628536 GRCh37 Chromosome 3, 130722014: 130722014
82 ATP2C1 NM_014382.3(ATP2C1): c.*1839A> G single nucleotide variant Likely benign rs141516276 GRCh38 Chromosome 3, 131003189: 131003189
83 ATP2C1 NM_014382.3(ATP2C1): c.*1839A> G single nucleotide variant Likely benign rs141516276 GRCh37 Chromosome 3, 130722033: 130722033
84 ATP2C1 NM_014382.3(ATP2C1): c.*881A> G single nucleotide variant Likely benign rs181188000 GRCh37 Chromosome 3, 130721075: 130721075
85 ATP2C1 NM_014382.3(ATP2C1): c.782G> A (p.Ser261Asn) single nucleotide variant Uncertain significance rs200665127 GRCh38 Chromosome 3, 130956129: 130956129
86 ATP2C1 NM_014382.3(ATP2C1): c.782G> A (p.Ser261Asn) single nucleotide variant Uncertain significance rs200665127 GRCh37 Chromosome 3, 130674973: 130674973
87 ATP2C1 NM_014382.3(ATP2C1): c.1905C> A (p.Asn635Lys) single nucleotide variant Uncertain significance rs781604274 GRCh38 Chromosome 3, 130993946: 130993946
88 ATP2C1 NM_014382.3(ATP2C1): c.1905C> A (p.Asn635Lys) single nucleotide variant Uncertain significance rs781604274 GRCh37 Chromosome 3, 130712790: 130712790
89 ATP2C1 NM_014382.3(ATP2C1): c.*326_*329delATCT deletion Uncertain significance rs886057984 GRCh38 Chromosome 3, 131001676: 131001679
90 ATP2C1 NM_014382.3(ATP2C1): c.*326_*329delATCT deletion Uncertain significance rs886057984 GRCh37 Chromosome 3, 130720520: 130720523
91 ATP2C1 NM_014382.3(ATP2C1): c.*498_*502delTGTAA deletion Likely benign rs141448272 GRCh38 Chromosome 3, 131001848: 131001852
92 ATP2C1 NM_014382.3(ATP2C1): c.*498_*502delTGTAA deletion Likely benign rs141448272 GRCh37 Chromosome 3, 130720692: 130720696
93 ATP2C1 NM_014382.3(ATP2C1): c.*881A> G single nucleotide variant Likely benign rs181188000 GRCh38 Chromosome 3, 131002231: 131002231
94 ATP2C1 NM_014382.3(ATP2C1): c.2375_2378delTTGT (p.Phe792Serfs) deletion Pathogenic rs1057517706 GRCh37 Chromosome 3, 130716581: 130716584
95 ATP2C1 NM_014382.3(ATP2C1): c.2375_2378delTTGT (p.Phe792Serfs) deletion Pathogenic rs1057517706 GRCh38 Chromosome 3, 130997737: 130997740

Copy number variations for Benign Chronic Pemphigus from CNVD:

7 (showing 1, show less)
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 168337 3 129200000 133700000 Loss ATP2C1 Hailey-hailey disease

Expression for Benign Chronic Pemphigus

Search GEO for disease gene expression data for Benign Chronic Pemphigus.

Pathways for Benign Chronic Pemphigus

Pathways related to Benign Chronic Pemphigus according to GeneCards Suite gene sharing:

(showing 8, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.85 ATP13A5 ATP2A2 ATP2C1 ATP2C2 ATP9B
2
Show member pathways
12.08 ATP13A5 ATP2A2 ATP2C1 ATP2C2 ATP9B
3
Show member pathways
11.98 ATP2A2 DSP JUP
4 11.52 CDH3 DSP JUP
5
Show member pathways
11.52 ATP13A5 ATP2A2 ATP2C1 ATP2C2 ATP9B
6 11.08 ATP2A2 DSP JUP
7 11.03 CDH3 JUP
8 10.87 DSP JUP

GO Terms for Benign Chronic Pemphigus

Cellular components related to Benign Chronic Pemphigus according to GeneCards Suite gene sharing:

(showing 7, show less)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.86 ATP13A5 ATP2A2 ATP2C1 ATP2C2 ATP9B CDH3
2 cornified envelope GO:0001533 9.4 DSP JUP
3 cytoplasmic side of plasma membrane GO:0009898 9.37 ATP2C2 JUP
4 intercalated disc GO:0014704 9.32 DSP JUP
5 catenin complex GO:0016342 9.16 CDH3 JUP
6 desmosome GO:0030057 8.96 DSP JUP
7 fascia adherens GO:0005916 8.62 DSP JUP

Biological processes related to Benign Chronic Pemphigus according to GeneCards Suite gene sharing:

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# Name GO ID Score Top Affiliating Genes
1 keratinization GO:0031424 9.69 CDH3 DSP JUP
2 calcium ion transport GO:0006816 9.67 ATP2A2 ATP2C1 ATP2C2
3 cell-cell adhesion GO:0098609 9.65 CDH3 DSP JUP
4 calcium ion transmembrane transport GO:0070588 9.63 ATP2A2 ATP2C1 ATP2C2
5 proton transmembrane transport GO:1902600 9.58 ATP2A2 ATP2C1 ATP2C2
6 positive regulation of canonical Wnt signaling pathway GO:0090263 9.56 CDH3 JUP
7 calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules GO:0016339 9.55 ATP2C1 CDH3
8 skin development GO:0043588 9.54 DSP JUP
9 epidermis development GO:0008544 9.54 ATP2A2 ATP2C1 DSP
10 regulation of heart rate by cardiac conduction GO:0086091 9.52 DSP JUP
11 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.43 DSP JUP
12 adherens junction organization GO:0034332 9.33 CDH3 DSP JUP
13 manganese ion transmembrane transport GO:0071421 9.32 ATP2C1 ATP2C2
14 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.26 DSP JUP
15 cellular calcium ion homeostasis GO:0006874 9.26 ATP13A5 ATP2A2 ATP2C1 ATP2C2
16 ATP hydrolysis coupled cation transmembrane transport GO:0099132 8.8 ATP2A2 ATP2C1 ATP2C2

Molecular functions related to Benign Chronic Pemphigus according to GeneCards Suite gene sharing:

(showing 8, show less)
# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 9.91 ATP13A5 ATP2A2 ATP2C1 ATP2C2 ATP9B CDH3
2 ATP binding GO:0005524 9.72 ATP13A5 ATP2A2 ATP2C1 ATP2C2 ATP9B
3 hydrolase activity GO:0016787 9.54 ATP13A5 ATP2C1 ATP2C2
4 cell adhesion molecule binding GO:0050839 9.4 DSP JUP
5 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 9.26 DSP JUP
6 manganese-transporting ATPase activity GO:0015410 9.16 ATP2C1 ATP2C2
7 proton-exporting ATPase activity, phosphorylative mechanism GO:0008553 9.13 ATP2A2 ATP2C1 ATP2C2
8 calcium-transporting ATPase activity GO:0005388 8.8 ATP2A2 ATP2C1 ATP2C2

Sources for Benign Chronic Pemphigus

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
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31 HGMD
32 HMDB
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70 SNOMED-CT via HPO
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72 TGDB
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75 UMLS via Orphanet
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