Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect TGex
News and Views Disease Lists/Categories
About
About MalaCards Datasets Our Publications Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
BCPM
MCID: BNG091
MIFTS: 58

Benign Chronic Pemphigus (BCPM)

Categories: Cancer diseases, Genetic diseases, Immune diseases, Oral diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Benign Chronic Pemphigus

About this section

MalaCards integrated aliases for Benign Chronic Pemphigus:

Name: Benign Chronic Pemphigus 56 12 52 25
Hailey-Hailey Disease 56 12 74 52 25 58 73 13 54 15
Pemphigus, Benign Familial 56 12 25 43
Familial Benign Pemphigus 52 29 6 71
Familial Benign Chronic Pemphigus 25 58 36
Benign Familial Pemphigus 52 25 73
Bcpm 56 52
Hhd 56 73
Benign Chronic Familial Pemphigus of Hailey-Hailey 58
Hailey-Hailey Disease; Hhd 56
Pemphigus, Chronic, Benign 39

Characteristics:

Orphanet epidemiological data:

58
familial benign chronic pemphigus
Inheritance: Autosomal dominant; Age of onset: Adult; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
benign chronic pemphigus:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases
Anatomical: Skin diseases Immune diseases Oral diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:0050429
OMIM 56 169600
KEGG 36 H00844
MeSH 43 D016506
NCIt 49 C82865
SNOMED-CT 67 79468000
ICD10 32 Q82.8
ICD10 via Orphanet 33 Q82.8
UMLS via Orphanet 72 C0085106
Orphanet 58 ORPHA2841
MedGen 41 C0085106
UMLS 71 C0085106
Sources

Summaries for Benign Chronic Pemphigus

About this section
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. The severity of benign chronic pemphigus varies from relatively mild episodes of skin irritation to widespread, persistent areas of raw and blistered skin that interfere with daily activities. Affected skin may become infected with bacteria or fungi, leading to pain and odor. Although the condition is described as "benign" (noncancerous), in rare cases the skin lesions may develop into a form of skin cancer called squamous cell carcinoma. Many affected individuals also have white lines running the length of their fingernails. These lines do not cause any problems, but they can be useful for diagnosing benign chronic pemphigus.

MalaCards based summary : Benign Chronic Pemphigus, also known as hailey-hailey disease, is related to pemphigus foliaceus and bullous pemphigoid. An important gene associated with Benign Chronic Pemphigus is ATP2C1 (ATPase Secretory Pathway Ca2+ Transporting 1), and among its related pathways/superpathways are Developmental Biology and Cardiac conduction. 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 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.

NIH Rare Diseases : 52 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.

OMIM : 56 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)

KEGG : 36 Familial benign chronic pemphigus, also known as Hailey-Hailey disease, is a rare, autosomal dominant skin disorder. The clinical features are uncomfortable skin blisters and vegetative lesions caused by friction. Lesions generally begin between 20 and 40 years of age. In two third of all cases, positive family history is detected. Mutations in ATP2C1 that encodes a secretory pathway Ca2+/Mn2+-ATPase in the Golgi apparatus impair desmosomal keratinocyte adhesion in Hailey-Hailey disease.

UniProtKB/Swiss-Prot : 73 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 : 74 Hailey-Hailey disease, or familial benign chronic pemphigus or familial benign pemphigus, was originally... more...

Sources

Related Diseases for Benign Chronic Pemphigus

About this section

Diseases in the Pemphigus family:

Benign Chronic Pemphigus

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

(show top 50) (show all 117)
# Related Disease Score Top Affiliating Genes
1 pemphigus foliaceus 31.1 DSG3 DSG1
2 bullous pemphigoid 31.1 IVL DSP DSG3 DSG1
3 hidradenitis suppurativa 30.7 DSG3 DSG1 DSC1
4 hidradenitis 30.7 DSG3 DSG1 DSC1
5 acrokeratosis verruciformis 30.6 ATP2A3 ATP2A2
6 grover's disease 30.5 JUP DSP
7 keratosis 30.4 IVL DSP DSG4 ATP2A2
8 skin disease 30.1 IVL DSP DSG4 DSG3 DSG1 DSC3
9 pemphigus vulgaris, familial 29.6 JUP IVL DSP DSG4 DSG3 DSG1
10 pemphigus 29.3 JUP DSP DSG4 DSG3 DSG1 DSC3
11 darier-white disease 27.1 JUP IVL DSP DSG4 DSG3 DSG1
12 herpes simplex 10.7
13 squamous cell carcinoma 10.6
14 contact dermatitis 10.6
15 exanthem 10.5
16 scabies 10.5
17 hypereosinophilic syndrome 10.5
18 rare genetic skin disease 10.5
19 pemphigus erythematosus 10.4 DSP DSG3
20 epidermolysis bullosa, lethal acantholytic 10.4 JUP DSP
21 pseudomembranous conjunctivitis 10.4 DSP DSG3
22 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige 10.4 DSP DSG1
23 herpetiform pemphigus 10.4 DSG3 DSG1
24 bullous impetigo 10.3 DSG3 DSG1
25 tinea imbricata 10.3 DSG3 DSG1
26 striate palmoplantar keratoderma 10.3 DSP DSG1
27 pemphigus vegetans 10.3 DSG1 DSC3
28 autoimmune disease 10.3
29 major affective disorder 1 10.3
30 congenital disorder of glycosylation, type in 10.3
31 erythema multiforme 10.3
32 autosomal genetic disease 10.3
33 graves' disease 10.3
34 basal cell carcinoma 10.3
35 epidermolysis bullosa 10.3
36 skin atrophy 10.3
37 facial dermatosis 10.3
38 neurilemmoma 10.3
39 mucoepidermoid carcinoma 10.3
40 malignant peripheral nerve sheath tumor 10.3
41 genital herpes 10.3
42 in situ carcinoma 10.3
43 seborrheic dermatitis 10.3
44 rosacea 10.3
45 47,xyy 10.3
46 acute monoblastic leukemia 10.3
47 drug reaction with eosinophilia and systemic symptoms 10.3
48 stevens-johnson syndrome/toxic epidermal necrolysis 10.3
49 acute generalized exanthematous pustulosis 10.3
50 diffuse palmoplantar keratoderma 10.3 JUP DSP DSG1

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



Diseases related to Benign Chronic Pemphigus
Sources

Symptoms & Phenotypes for Benign Chronic Pemphigus

About this section

Human phenotypes related to Benign Chronic Pemphigus:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperkeratosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000962
2 erythema 58 31 hallmark (90%) Very frequent (99-80%) HP:0010783
3 skin vesicle 58 31 hallmark (90%) Very frequent (99-80%) HP:0200037
4 skin erosion 58 31 hallmark (90%) Very frequent (99-80%) HP:0200041
5 acantholysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0100792

Symptoms via clinical synopsis from OMIM:

56
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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.36 ATP2A2 ATP2C1 CDH3 DSC1 DSC3 DSG1
Sources

Drugs & Therapeutics for Benign Chronic Pemphigus

About this section

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

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved, Investigational Phase 1 51-84-3 187
2 Cholinergic Agents Phase 1
3 Neurotransmitter Agents Phase 1
4 Botulinum Toxins Phase 1
5
Lidocaine Approved, Vet_approved 137-58-6 3676
6
Chlorhexidine Approved, Vet_approved 55-56-1 9552079 2713
7
Fusidic Acid Approved, Investigational 6990-06-3 3000226
8 Anesthetics
9 Pharmaceutical Solutions
10 Chlorhexidine gluconate

Interventional clinical trials:


# 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. Toxin Hailey Darier Completed NCT02782702 Phase 1 Botulism Toxin Treatment
2 Research Registry for Inherited Disorders of Keratinization Unknown status NCT00074685
3 Expression of hSPCA1 and Ultrastructural Analysis of the Skin Before and After Laser Therapy in Hailey-Hailey Disease Recruiting NCT03849989

Search NIH Clinical Center for Benign Chronic Pemphigus

Cochrane evidence based reviews: pemphigus, benign familial

Sources

Genetic Tests for Benign Chronic Pemphigus

About this section

Genetic tests related to Benign Chronic Pemphigus:

# Genetic test Affiliating Genes
1 Familial Benign Pemphigus 29 ATP2C1
Sources

Anatomical Context for Benign Chronic Pemphigus

About this section

MalaCards organs/tissues related to Benign Chronic Pemphigus:

40
Skin, Breast, Testes, Brain, Colon, Liver, Testis
Sources

Publications for Benign Chronic Pemphigus

About this section

Articles related to Benign Chronic Pemphigus:

(show top 50) (show all 612)
# Title Authors PMID Year
1
Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease. 61 6 56 54
10615129 2000
2
Allelic loss underlies type 2 segmental Hailey-Hailey disease, providing molecular confirmation of a novel genetic concept. 61 56 6
15545997 2004
3
Relapsing linear acantholytic dermatosis. 61 56 6
3978039 1985
4
Analysis of ATP2C1 gene mutation in 10 unrelated Japanese families with Hailey-Hailey disease. 54 61 6
11874499 2002
5
Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca(2+) pump. 6 54 61
10767338 2000
6
Narrowing of the Hailey-Hailey disease gene region on chromosome 3q and identification of one kindred with a deletion in this region. 61 56
8595906 1995
7
Hailey-Hailey disease maps to a 5 cM interval on chromosome 3q21-q24. 61 56
7665912 1995
8
Localization of the gene whose mutations underlie Hailey-Hailey disease to chromosome 3q. 61 56
7981684 1994
9
Hailey-Hailey disease of the vulva. 56 61
8215508 1993
10
Familial benign chronic pemphigus (Hailey-Hailey disease). Treatment with carbon dioxide laser vaporization. 56 61
1575528 1992
11
Hailey-Hailey disease: the clinical features, response to treatment and prognosis. 56 61
1554604 1992
12
Hailey-Hailey disease: a widespread abnormality of cell adhesion. 56 61
2025553 1991
13
Contact allergies in patients with familial benign chronic pemphigus (Hailey-Hailey disease) 56 61
2528572 1989
14
Generalized familial benign chronic pemphigus. 56 61
7398981 1980
15
Generalized Hailey-Hailey disease. 56 61
708629 1978
16
Familial benign chronic pemphigus. Surgical treatment and pathogenesis. 56 61
4939904 1971
17
Familial benign chronic pemphigus. The role of trauma including contact sensitivity. 61 56
5093171 1971
18
Familial benign chronic pemphigus: the role of pyogenic bacteria. 56 61
14417924 1959
19
Interventional treatments for Hailey-Hailey disease. 61 52
27745906 2017
20
HLA-B 16 in Hailey-Hailey's disease. 56
2426907 1986
21
Pemphigus benignus familiaris (with special reference to the histopathological diagnosis). 56
6033006 1967
22
Vesicular Darier's disease (so-called benign familial pemphigus); a variant of Darier's disease. 56
15411213 1950
23
[Benign familial chronic pemphigus (Hailey-Hailey disease). Treatment with carbon dioxide laser]. 61 54
20390242 2010
24
Six novel ATP2C1 mutations identified in Chinese patients with Hailey-Hailey disease. 61 54
20226632 2010
25
Exacerbation of Darier disease by lithium carbonate. 54 61
20338123 2010
26
Genetic diagnosis of Hailey-Hailey disease in two Chinese families: novel mutations in the ATP2C1 gene. 61 54
20055875 2009
27
Familial benign chronic pemphigus (Hailey-Hailey disease). 54 61
19891923 2009
28
Acantholytic dermatosis of the crural folds with ATP2C1 mutation is a possible variant of Hailey-Hailey Disease. 61 54
19426624 2009
29
A novel mutation in the ATP2C1 gene is associated with Hailey-Hailey disease in a Chinese family. 54 61
19126050 2009
30
Hailey-Hailey disease: a novel mutation of the ATP2C1 gene in a Taiwanese family with divergent clinical presentation. 61 54
18266684 2008
31
Molecular and clinical characterization in Japanese and Korean patients with Hailey-Hailey disease: six new mutations in the ATP2C1 gene. 61 54
18372165 2008
32
Immunohistological study of involucrin expression in Darier's disease skin. 61 54
18312435 2008
33
Three novel ATP2C1 mutations in Chinese patients with Hailey-Hailey disease. 54 61
18205868 2008
34
[Mutation detection of ATP2C1 gene in Chinese patients with Hailey-Hailey disease]. 54 61
18247307 2008
35
A novel deletion mutation of the ATP2C1 gene in Chinese patients with Hailey-Hailey disease. 54 61
18211433 2008
36
Diagnosis of Hailey-Hailey disease facilitated by DNA testing: a novel mutation in ATP2C1. 61 54
18709316 2008
37
Loss of the Atp2c1 secretory pathway Ca(2+)-ATPase (SPCA1) in mice causes Golgi stress, apoptosis, and midgestational death in homozygous embryos and squamous cell tumors in adult heterozygotes. 61 54
17597066 2007
38
Involucrin expression is decreased in Hailey-Hailey keratinocytes owing to increased involucrin mRNA degradation. 61 54
17392835 2007
39
Two novel mutations of the ATP2C1 gene in Chinese patients with Hailey-Hailey disease. 54 61
17503064 2007
40
Calcium in the Golgi apparatus. 54 61
17140658 2007
41
[Identification of a novel mutation in the ATP2C1 gene in a Chinese pedigree with Hailey-Hailey disease]. 61 54
17536260 2007
42
Diseases involving the Golgi calcium pump. 54 61
18193645 2007
43
Eight novel mutations of ATP2C1 identified in 17 Chinese families with Hailey-Hailey disease. 54 61
17911984 2007
44
Darier disease and Hailey-Hailey disease. 61 54
18060195 2007
45
Mutations in the ATP2C1 gene in Chinese patients with Hailey-Hailey disease. 54 61
16901313 2006
46
ATP2C1 is specifically localized in the basal layer of normal epidermis and its depletion triggers keratinocyte differentiation. 54 61
16621454 2006
47
Two novel mutations of the ATP2C1 gene in Chinese families with Hailey-Hailey disease. 54 61
16540292 2006
48
Activity of the hSPCA1 Golgi Ca2+ pump is essential for Ca2+-mediated Ca2+ response and cell viability in Darier disease. 61 54
16467572 2006
49
Dissection of the functional differences between human secretory pathway Ca2+/Mn2+-ATPase (SPCA) 1 and 2 isoenzymes by steady-state and transient kinetic analyses. 61 54
16332677 2006
50
Novel mutation in ATP2C1 gene in a Japanese patient with Hailey-Hailey disease. 61 54
16484827 2006
Sources

Variations for Benign Chronic Pemphigus

About this section

ClinVar genetic disease variations for Benign Chronic Pemphigus:

6 (show top 50) (show all 79) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ATP2C1 NM_014382.4(ATP2C1):c.769_772dup (p.Leu258fs)duplication Pathogenic 5581 rs1559971447 3:130674958-130674959 3:130956114-130956115
2 ATP2C1 NM_014382.4(ATP2C1):c.910G>A (p.Ala304Thr)SNV Pathogenic 5582 rs137853012 3:130682825-130682825 3:130963981-130963981
3 ATP2C1 NM_014382.4(ATP2C1):c.1402C>T (p.Arg468Ter)SNV Pathogenic 5583 rs137853013 3:130688229-130688229 3:130969385-130969385
4 ATP2C1 NM_014382.4(ATP2C1):c.900-1G>ASNV Pathogenic 5585 rs1559982055 3:130682814-130682814 3:130963970-130963970
5 ATP2C1 NM_014382.4(ATP2C1):c.1469G>T (p.Cys490Phe)SNV Pathogenic 5586 rs137853014 3:130694231-130694231 3:130975387-130975387
6 ATP2C1 NM_014382.4(ATP2C1):c.2460del (p.Met820fs)deletion Pathogenic 5587 rs1560033613 3:130717206-130717206 3:130998362-130998362
7 ATP2C1 NM_014382.4(ATP2C1):c.1751T>C (p.Leu584Pro)SNV Pathogenic 5588 rs137853015 3:130699435-130699435 3:130980591-130980591
8 ATP2C1 ATP2C1, IVS22, G-A, +1SNV Pathogenic 5589
9 ATP2C1 NM_014382.4(ATP2C1):c.2371_2374TTGT[1] (p.Phe792fs)short repeat Pathogenic 372308 rs1057517706 3:130716576-130716579 3:130997732-130997735
10 ATP2C1 NM_014382.4(ATP2C1):c.*881A>GSNV Uncertain significance 343340 rs181188000 3:130721075-130721075 3:131002231-131002231
11 ATP2C1 NM_014382.4(ATP2C1):c.-64A>GSNV Uncertain significance 343316 rs886057980 3:130613550-130613550 3:130894706-130894706
12 ATP2C1 NM_014382.4(ATP2C1):c.1905C>A (p.Asn635Lys)SNV Uncertain significance 343330 rs781604274 3:130712790-130712790 3:130993946-130993946
13 ATP2C1 NM_001001485.2(ATP2C1):c.2629+2017_2629+2020delshort repeat Uncertain significance 343335 rs886057984 3:130720514-130720517 3:131001670-131001673
14 ATP2C1 NM_014382.4(ATP2C1):c.2694T>C (p.Val898=)SNV Uncertain significance 343333 rs886057983 3:130720128-130720128 3:131001284-131001284
15 ATP2C1 NM_014382.4(ATP2C1):c.*343T>ASNV Uncertain significance 343337 rs777719092 3:130720537-130720537 3:131001693-131001693
16 ATP2C1 NM_014382.4(ATP2C1):c.*946T>GSNV Uncertain significance 343341 rs886057987 3:130721140-130721140 3:131002296-131002296
17 ATP2C1 NM_014382.4(ATP2C1):c.*1255G>ASNV Uncertain significance 343346 rs886057991 3:130721449-130721449 3:131002605-131002605
18 ATP2C1 NM_014382.4(ATP2C1):c.*1264T>CSNV Uncertain significance 343347 rs886057992 3:130721458-130721458 3:131002614-131002614
19 ATP2C1 NM_014382.4(ATP2C1):c.*1471T>ASNV Uncertain significance 343348 rs878906207 3:130721665-130721665 3:131002821-131002821
20 ATP2C1 NM_014382.4(ATP2C1):c.996G>A (p.Val332=)SNV Uncertain significance 343325 rs886057982 3:130682911-130682911 3:130964067-130964067
21 ATP2C1 NM_014382.4(ATP2C1):c.*127A>GSNV Uncertain significance 343334 rs767826698 3:130720321-130720321 3:131001477-131001477
22 ATP2C1 NM_014382.4(ATP2C1):c.532-6C>TSNV Uncertain significance 343321 rs886057981 3:130672659-130672659 3:130953815-130953815
23 ATP2C1 NM_001001485.2(ATP2C1):c.2629+2894deldeletion Uncertain significance 343343 rs886057988 3:130721397-130721397 3:131002553-131002553
24 ATP2C1 NM_014382.4(ATP2C1):c.*1204A>TSNV Uncertain significance 343344 rs886057989 3:130721398-130721398 3:131002554-131002554
25 ATP2C1 NM_014382.4(ATP2C1):c.*1214A>GSNV Uncertain significance 343345 rs886057990 3:130721408-130721408 3:131002564-131002564
26 ATP2C1 NM_014382.4(ATP2C1):c.*1564C>TSNV Uncertain significance 343349 rs886057993 3:130721758-130721758 3:131002914-131002914
27 ATP2C1 NM_014382.4(ATP2C1):c.-80_-79TC[1]short repeat Uncertain significance 343314 rs886057978 3:130613533-130613534 3:130894689-130894690
28 ATP2C1 NM_014382.4(ATP2C1):c.-66C>TSNV Uncertain significance 343315 rs886057979 3:130613548-130613548 3:130894704-130894704
29 ATP2C1 NM_001001486.2(ATP2C1):c.1181A>G (p.His394Arg)SNV Uncertain significance 900774 3:130686047-130686047 3:130967203-130967203
30 ATP2C1 NM_001001486.2(ATP2C1):c.2067C>T (p.Ile689=)SNV Uncertain significance 902443 3:130714896-130714896 3:130996052-130996052
31 ATP2C1 NM_001001486.2(ATP2C1):c.2106C>T (p.Phe702=)SNV Uncertain significance 902444 3:130714935-130714935 3:130996091-130996091
32 ATP2C1 NM_001001486.2(ATP2C1):c.2754+1579G>ASNV Uncertain significance 902524 3:130721767-130721767 3:131002923-131002923
33 ATP2C1 NM_001001486.2(ATP2C1):c.2754+1610T>CSNV Uncertain significance 902525 3:130721798-130721798 3:131002954-131002954
34 ATP2C1 NM_001001486.2(ATP2C1):c.2754+1615A>CSNV Uncertain significance 902526 3:130721803-130721803 3:131002959-131002959
35 ATP2C1 NM_001001486.2(ATP2C1):c.2754+1792G>ASNV Uncertain significance 902527 3:130721980-130721980 3:131003136-131003136
36 ATP2C1 NM_001001486.2(ATP2C1):c.899+6T>CSNV Uncertain significance 900772 3:130678191-130678191 3:130959347-130959347
37 ATP2C1 NM_001001486.2(ATP2C1):c.1309-13T>CSNV Uncertain significance 900775 3:130688123-130688123 3:130969279-130969279
38 ATP2C1 NM_001001486.2(ATP2C1):c.1571-11T>CSNV Uncertain significance 902442 3:130698082-130698082 3:130979238-130979238
39 ATP2C1 NM_001001486.2(ATP2C1):c.-180-72G>ASNV Uncertain significance 902375 3:130613362-130613362 3:130894518-130894518
40 ATP2C1 NM_001001486.2(ATP2C1):c.-180-57C>TSNV Uncertain significance 902376 3:130613377-130613377 3:130894533-130894533
41 ATP2C1 NM_001001486.2(ATP2C1):c.-90G>CSNV Uncertain significance 903236 3:130613524-130613524 3:130894680-130894680
42 ATP2C1 NM_001001486.2(ATP2C1):c.41A>G (p.Asn14Ser)SNV Uncertain significance 903238 3:130649294-130649294 3:130930450-130930450
43 ATP2C1 NM_001001486.2(ATP2C1):c.593T>G (p.Val198Gly)SNV Uncertain significance 899636 3:130672726-130672726 3:130953882-130953882
44 ATP2C1 NM_001001486.2(ATP2C1):c.694G>A (p.Val232Ile)SNV Uncertain significance 899638 3:130673862-130673862 3:130955018-130955018
45 ATP2C1 NM_001001486.2(ATP2C1):c.874C>G (p.Leu292Val)SNV Uncertain significance 900771 3:130678160-130678160 3:130959316-130959316
46 ATP2C1 NM_001001486.2(ATP2C1):c.2439A>G (p.Thr813=)SNV Uncertain significance 903304 3:130717185-130717185 3:130998341-130998341
47 ATP2C1 NM_001001486.2(ATP2C1):c.2557A>G (p.Met853Val)SNV Uncertain significance 903305 3:130718431-130718431 3:130999587-130999587
48 ATP2C1 NM_001001486.2(ATP2C1):c.2589G>A (p.Pro863=)SNV Uncertain significance 903306 3:130718463-130718463 3:130999619-130999619
49 ATP2C1 NM_001001486.2(ATP2C1):c.2754+182T>CSNV Uncertain significance 903307 3:130720370-130720370 3:131001526-131001526
50 ATP2C1 NM_001001486.2(ATP2C1):c.2754+587T>CSNV Uncertain significance 899699 3:130720775-130720775 3:131001931-131001931

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

73 (show all 20)
# 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

Cosmic variations for Benign Chronic Pemphigus:

9 (show top 50) (show all 195)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)		 Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM87898351 TP53 skin,neck,carcinoma,squamous cell carcinoma c.743G>A p.R248Q 17:7674220-7674220 20
2 COSM135128838 TGFBR1 skin,neck,carcinoma,squamous cell carcinoma c.1259C>T p.S420F 9:99146601-99146601 20
3 COSM84678061 SMO skin,neck,carcinoma,squamous cell carcinoma c.1103C>T p.P368L 7:129206332-129206332 20
4 COSM86828717 RARA skin,neck,carcinoma,squamous cell carcinoma c.1384C>T p.P462S 17:40356221-40356221 20
5 COSM94496058 RAD52 skin,neck,carcinoma,squamous cell carcinoma c.439G>A p.V147M 12:927173-927173 20
6 COSM97061657 PTPRT skin,neck,carcinoma,squamous cell carcinoma c.1619G>A p.G540E 20:42352227-42352227 20
7 COSM97061670 PTPRT skin,neck,carcinoma,squamous cell carcinoma c.1607C>T p.S536L 20:42352239-42352239 20
8 COSM101904169 PTPRD skin,neck,carcinoma,squamous cell carcinoma c.1261C>T p.P421S 9:8518130-8518130 20
9 COSM101917565 PTPRD skin,neck,carcinoma,squamous cell carcinoma c.1736G>A p.S579N 9:8504347-8504347 20
10 COSM101909541 PTPRD skin,neck,carcinoma,squamous cell carcinoma c.5048C>T p.S1683F 9:8341168-8341168 20
11 COSM135344063 PLCG2 skin,neck,carcinoma,squamous cell carcinoma c.115G>T p.E39* 16:81786104-81786104 20
12 COSM96446251 PIK3CG skin,neck,carcinoma,squamous cell carcinoma c.310G>A p.G104R 7:106867871-106867871 20
13 COSM96446257 PIK3CG skin,neck,carcinoma,squamous cell carcinoma c.3227G>A p.R1076K 7:106905305-106905305 20
14 COSM97107379 NRAS skin,neck,carcinoma,squamous cell carcinoma c.35G>A p.G12D 1:114716126-114716126 20
15 COSM96979266 NCOA3 skin,neck,carcinoma,squamous cell carcinoma c.979C>T p.H327Y 20:47634062-47634062 20
16 COSM94433642 MTOR skin,neck,carcinoma,squamous cell carcinoma c.3409G>A p.E1137K 1:11212464-11212464 20
17 COSM88433397 KMT2C skin,neck,carcinoma,squamous cell carcinoma c.11659C>T p.H3887Y 7:152158874-152158874 20
18 COSM129134015 KMT2A skin,neck,carcinoma,squamous cell carcinoma c.4377T>G p.C1459W 11:118488658-118488658 20
19 COSM112988842 HRAS skin,neck,carcinoma,squamous cell carcinoma c.182A>T p.Q61L 11:533874-533874 20
20 COSM87850134 HGF skin,neck,carcinoma,squamous cell carcinoma c.974C>T p.P325L 7:81729671-81729671 20
21 COSM97161142 FUBP1 skin,neck,carcinoma,squamous cell carcinoma c.430C>T p.P144S 1:77966737-77966737 20
22 COSM90925428 FGFR3 skin,neck,carcinoma,squamous cell carcinoma c.2427A>G p.*809Wext*101 4:1807262-1807262 20
23 COSM113064666 FGFR2 skin,neck,carcinoma,squamous cell carcinoma c.2237C>T p.S746F 10:121483765-121483765 20
24 COSM96350412 EPHA7 skin,neck,carcinoma,squamous cell carcinoma c.2468G>A p.G823E 6:93254711-93254711 20
25 COSM143839996 EPHA5 skin,neck,carcinoma,squamous cell carcinoma c.2611G>A p.E871K 4:65348104-65348104 20
26 COSM90880957 EPHA3 skin,neck,carcinoma,squamous cell carcinoma c.533G>A p.G178E 3:89210239-89210239 20
27 COSM90896216 EPHA3 skin,neck,carcinoma,squamous cell carcinoma c.632T>A p.M211K 3:89210338-89210338 20
28 COSM94452739 CASP8 skin,neck,carcinoma,squamous cell carcinoma c.1508C>T p.T503I 2:201286485-201286485 20
29 COSM94447474 CASP8 skin,neck,carcinoma,squamous cell carcinoma c.1219C>T p.L407F 2:201285055-201285055 20
30 COSM88124807 ATM skin,neck,carcinoma,squamous cell carcinoma c.1009C>T p.R337C 11:108247071-108247071 20
31 COSM88887524 APC skin,neck,carcinoma,squamous cell carcinoma c.536C>T p.S179F 5:112780794-112780794 20
32 COSM86931984 AKT3 skin,neck,carcinoma,squamous cell carcinoma c.1164-1G>A p.? 1:243545598-243545598 20
33 COSM143943797 skin,neck,carcinoma,squamous cell carcinoma c.266G>A p.R89Q 17:7674220-7674220 20
34 COSM151006887 skin,neck,carcinoma,squamous cell carcinoma c.974C>T p.P325L 7:81729671-81729671 20
35 COSM87854487 skin,neck,carcinoma,squamous cell carcinoma c.1079C>T p.T360I 2:201286485-201286485 20
36 COSM90842417 skin,neck,carcinoma,squamous cell carcinoma c.11659C>T p.H3887Y 7:152158874-152158874 20
37 COSM142560281 skin,neck,carcinoma,squamous cell carcinoma c.626G>A p.R209Q 17:7674220-7674220 20
38 COSM94156150 skin,neck,carcinoma,squamous cell carcinoma c.1164-1G>A p.? 1:243545598-243545598 20
39 COSM101967270 skin,neck,carcinoma,squamous cell carcinoma c.182A>T p.Q61L 11:533874-533874 20
40 COSM96948694 skin,neck,carcinoma,squamous cell carcinoma c.1619G>A p.G540E 20:42352227-42352227 20
41 COSM144087106 skin,neck,carcinoma,squamous cell carcinoma c.266G>A p.R89Q 17:7674220-7674220 20
42 COSM125447871 skin,neck,carcinoma,squamous cell carcinoma c.2611G>A p.E871K 4:65348104-65348104 20
43 COSM96966855 skin,neck,carcinoma,squamous cell carcinoma c.1009C>T p.H337Y 20:47634062-47634062 20
44 COSM97161923 skin,neck,carcinoma,squamous cell carcinoma c.1619G>A p.G540E 20:42352227-42352227 20
45 COSM92783540 skin,neck,carcinoma,squamous cell carcinoma c.997C>T p.L333F 2:201285055-201285055 20
46 COSM133256111 skin,neck,carcinoma,squamous cell carcinoma c.1040C>T p.S347F 9:99146601-99146601 20
47 COSM144310203 skin,neck,carcinoma,squamous cell carcinoma c.626G>A p.R209Q 17:7674220-7674220 20
48 COSM96619514 skin,neck,carcinoma,squamous cell carcinoma c.1619G>A p.G540E 20:42352227-42352227 20
49 COSM92948518 skin,neck,carcinoma,squamous cell carcinoma c.5048C>T p.S1683F 9:8341168-8341168 20
50 COSM142837352 skin,neck,carcinoma,squamous cell carcinoma c.743G>A p.R248Q 17:7674220-7674220 20

Copy number variations for Benign Chronic Pemphigus from CNVD:

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

Expression for Benign Chronic Pemphigus

About this section
Search GEO for disease gene expression data for Benign Chronic Pemphigus.
Sources

Pathways for Benign Chronic Pemphigus

About this section

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

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Developmental Biology 65
Show member pathways
 13.19 JUP IVL DSP DSG4 DSG3 DSG1
2
Cardiac conduction 65
Show member pathways
 12.57 ATP2C2 ATP2C1 ATP2A3 ATP2A2 ATP2A1 ATP13A5
3
Ion channel transport 65
Show member pathways
 12.13 ATP2C2 ATP2C1 ATP2A3 ATP2A2 ATP2A1 ATP13A5
4
Spinocerebellar ataxia 36
11.84 ATP2A3 ATP2A2 ATP2A1
5
Pre-NOTCH Expression and Processing 65
Show member pathways
 11.8 ATP2A3 ATP2A2 ATP2A1
6
Adhesion 4
11.78 JUP DSP CDH3
7
Thyroid hormone signaling pathway 36
11.75 ATP2A3 ATP2A2 ATP2A1
8
Keratinization 65
Show member pathways
 11.73 JUP IVL DSP DSG4 DSG3 DSG1
9
Pancreatic secretion 36
11.66 ATP2A3 ATP2A2 ATP2A1
10
Arrhythmogenic right ventricular cardiomyopathy (ARVC) 36
Show member pathways
 11.62 JUP DSP DSC2 ATP2A3 ATP2A2 ATP2A1
11
Cardiac muscle contraction 36
11.57 ATP2A3 ATP2A2 ATP2A1
12
Celecoxib Pathway, Pharmacodynamics 60
11.34 ATP2A3 ATP2A2 ATP2A1
13
Antiarrhythmic Pathway, Pharmacodynamics 60
11.31 JUP DSP ATP2A2 ATP2A1
14
Succinylcholine Pathway, Pharmacokinetics/Pharmacodynamics 60
10.51 ATP2A2 ATP2A1
Sources

GO Terms for Benign Chronic Pemphigus

About this section

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.36 SLC35E1 SLC35C2 SLC35A5 JUP DSP DSG4
2 plasma membrane GO:0005886 10.34 JUP F7 DSP DSG4 DSG3 DSG1
3 integral component of membrane GO:0016021 10.22 SLC35E1 SLC35C2 SLC35A5 DSG4 DSG3 DSG1
4 cell GO:0005623 10.04 JUP ATP2C2 ATP2C1 ATP2A3 ATP2A2 ATP2A1
5 cell junction GO:0030054 9.91 JUP DSP DSG4 DSG3 DSG1 DSC3
6 cell-cell junction GO:0005911 9.76 JUP DSP DSG4 DSG3 DSG1 DSC3
7 sarcoplasmic reticulum GO:0016529 9.71 ATP2A3 ATP2A2 ATP2A1
8 ficolin-1-rich granule membrane GO:0101003 9.69 DSP DSG1 DSC1
9 cytoplasmic side of plasma membrane GO:0009898 9.65 JUP DSG1 ATP2C2
10 intercalated disc GO:0014704 9.63 JUP DSP DSC2
11 sarcoplasmic reticulum membrane GO:0033017 9.61 ATP2A3 ATP2A2 ATP2A1
12 desmosome GO:0030057 9.56 JUP DSP DSG4 DSG3 DSG1 DSC3
13 fascia adherens GO:0005916 9.55 JUP DSP
14 platelet dense tubular network membrane GO:0031095 9.54 ATP2A3 ATP2A2 ATP2A1
15 cornified envelope GO:0001533 9.28 JUP IVL DSP DSG4 DSG3 DSG1

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 10.02 ATP2C2 ATP2C1 ATP2A3 ATP2A2 ATP2A1
2 cell adhesion GO:0007155 10.02 JUP DSG4 DSG3 DSG1 DSC3 DSC2
3 ion transmembrane transport GO:0034220 9.95 ATP2C2 ATP2C1 ATP2A3 ATP2A2 ATP2A1 ATP13A5
4 calcium ion transport GO:0006816 9.89 ATP2C2 ATP2C1 ATP2A3 ATP2A2 ATP2A1
5 calcium ion transmembrane transport GO:0070588 9.85 ATP2C2 ATP2C1 ATP2A3 ATP2A2 ATP2A1
6 proton transmembrane transport GO:1902600 9.83 ATP2C2 ATP2C1 ATP2A3 ATP2A2 ATP2A1
7 cell-cell adhesion GO:0098609 9.81 JUP DSP DSG4 DSG3 DSG1 DSC3
8 cellular calcium ion homeostasis GO:0006874 9.8 ATP2C2 ATP2C1 ATP2A3 ATP2A2 ATP2A1 ATP13A5
9 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.8 DSG4 DSG3 DSG1 DSC3 DSC2 DSC1
10 epidermis development GO:0008544 9.79 DSP ATP2C1 ATP2A2
11 keratinocyte differentiation GO:0030216 9.77 IVL DSP DSG4
12 regulation of cardiac conduction GO:1903779 9.76 ATP2A3 ATP2A2 ATP2A1
13 adherens junction organization GO:0034332 9.75 JUP DSP CDH3
14 calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules GO:0016339 9.74 DSG1 CDH3 ATP2C1
15 regulation of heart rate by cardiac conduction GO:0086091 9.73 JUP DSP DSC2
16 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.69 JUP DSP DSC2
17 manganese ion transport GO:0006828 9.61 ATP2C2 ATP2C1
18 manganese ion transmembrane transport GO:0071421 9.61 ATP2C2 ATP2C1
19 cornification GO:0070268 9.61 JUP IVL DSP DSG4 DSG3 DSG1
20 negative regulation of receptor binding GO:1900121 9.6 ATP2A3 ATP2A2
21 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.58 JUP DSP DSC2
22 calcium ion import into sarcoplasmic reticulum GO:1990036 9.55 ATP2A2 ATP2A1
23 calcium ion transport from cytosol to endoplasmic reticulum GO:1903515 9.54 ATP2A3 ATP2A2
24 positive regulation of endoplasmic reticulum calcium ion concentration GO:0032470 9.52 ATP2A2 ATP2A1
25 keratinization GO:0031424 9.32 JUP IVL DSP DSG4 DSG3 DSG1

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

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 10.18 DSG4 DSG3 DSG1 DSC3 DSC2 DSC1
2 calcium ion binding GO:0005509 9.85 F7 DSG4 DSG3 DSG1 DSC3 DSC2
3 ATPase activity GO:0016887 9.8 ATP2C2 ATP2C1 ATP2A3 ATP2A2 ATP2A1 ATP13A5
4 gamma-catenin binding GO:0045295 9.46 DSG1 DSC3
5 calcium-dependent ATPase activity GO:0030899 9.43 ATP2A3 ATP2A1
6 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 9.43 JUP DSP DSC2
7 manganese-transporting ATPase activity GO:0015410 9.4 ATP2C2 ATP2C1
8 proton-exporting ATPase activity, phosphorylative mechanism GO:0008553 9.35 ATP2C2 ATP2C1 ATP2A3 ATP2A2 ATP2A1
9 calcium-transporting ATPase activity GO:0005388 9.02 ATP2C2 ATP2C1 ATP2A3 ATP2A2 ATP2A1
Sources

Sources for Benign Chronic Pemphigus

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Content
Loading form....