HHD
MCID: BNG091
MIFTS: 54

Benign Chronic Pemphigus (HHD)

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 Neurotransmitter 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.

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:

(show all 46)
# Related Disease Score Top Affiliating Genes
1 pemphigus 31.1 JUP DSP ATP2C1
2 pemphigus vulgaris 30.2 JUP DSP
3 keratosis 30.1 DSP ATP2A2
4 darier-white disease 28.6 JUP DSP CDH3 ATP2C2 ATP2C1 ATP2A2
5 squamous cell carcinoma 10.6
6 dermatitis 10.4
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 pemphigus vulgaris, familial 10.3
13 graves' disease 10.3
14 candidiasis 10.3
15 hidradenitis suppurativa 10.3
16 hidradenitis 10.3
17 contact dermatitis 10.3
18 genital herpes 10.3
19 acute generalized exanthematous pustulosis 10.3
20 psoriasis 10.1
21 grover's disease 10.1 JUP DSP
22 epidermolysis bullosa, lethal acantholytic 10.1 JUP DSP
23 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.1 JUP DSP
24 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.1 JUP DSP
25 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.1 JUP DSP
26 palmoplantar keratoderma and woolly hair 10.1 JUP DSP
27 naxos disease 10.1 JUP DSP
28 arrhythmogenic right ventricular dysplasia, familial, 1 10.1 JUP DSP
29 arrhythmogenic right ventricular dysplasia, familial, 9 10.0 JUP DSP
30 ectodermal dysplasia/skin fragility syndrome 10.0 JUP DSP
31 arrhythmogenic right ventricular dysplasia, familial, 8 10.0 JUP DSP
32 cardiomyopathy, dilated, with woolly hair and keratoderma 10.0 JUP DSP
33 bullous skin disease 10.0 DSP ATP2C1 ATP2A2
34 palmoplantar keratosis 10.0 JUP DSP
35 skin disease 10.0 DSP ATP2C1 ATP2A2
36 cellulitis 10.0 DSP ATP2C1 ATP2A2
37 hair disease 10.0 DSP CDH3
38 intrinsic cardiomyopathy 9.9 JUP DSP
39 psoriasis 2 9.9
40 psoriasis 7 9.9
41 psoriasis 11 9.9
42 psoriasis 13 9.9
43 syringoma 9.9
44 eczema herpeticum 9.9
45 leukoplakia 9.9
46 atrial standstill 1 9.7 JUP DSP

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
# 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
# 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):

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

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. 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

Publications for Benign Chronic Pemphigus

Articles related to Benign Chronic Pemphigus:

(show top 50) (show all 374)
# Title Authors Year
1
Botulinum toxin type A for the first-line treatment of Hailey-Hailey disease. ( 29896862 )
2019
2
A novel splice-site mutation in the ATP2C1 gene of a Chinese family with Hailey-Hailey disease. ( 30654607 )
2019
3
Hailey-Hailey disease with lichenoid lesions around the anus. ( 30855357 )
2019
4
Naltrexone Therapy for Hailey-Hailey Disease: Confirming My Addiction to Evidence-Based Medicine. ( 30888948 )
2019
5
Generalized familial benign chronic pemphigus (Hailey-Hailey disease) treated successfully with low-dose naltrexone. ( 30167446 )
2018
6
Low-dose naltrexone: a novel treatment for Hailey-Hailey disease. ( 28991360 )
2018
7
Treatment of Hailey-Hailey disease with botulinum toxin. ( 29044476 )
2018
8
Psoriasiform Hailey-Hailey Disease Presenting as Erythematous Psoriasiform Plaques Throughout the Body: A Case Report. ( 29236657 )
2018
9
Variable Response to Naltrexone in Patients With Hailey-Hailey Disease. ( 29344611 )
2018
10
Mild case of Hailey-Hailey disease caused by a novel ATP2C1 mutation. ( 29383827 )
2018
11
Narrowband UV-B Phototherapy in the Treatment of Generalized Hailey-Hailey Disease. ( 29467079 )
2018
12
Store-independent coupling between the Secretory Pathway Ca2+ transport ATPase SPCA1 and Orai1 in Golgi stress and Hailey-Hailey disease. ( 29555205 )
2018
13
Dermoscopy of Hailey Hailey Disease. ( 29644210 )
2018
14
Mild Hailey-Hailey disease cases with aberrant splicing variants of ATP2C1 successfully controlled with excimer light. ( 29705999 )
2018
15
Hailey-Hailey disease patient with a novel missense mutation in ATP2C1 successfully treated with minocycline hydrochloride. ( 29740863 )
2018
16
A Case of Hailey-Hailey Disease Managed With Oral Magnesium Citrate and High-Dose Vitamin D3. ( 29865954 )
2018
17
Long-term improvement of recalcitrant Hailey-Hailey disease with electron beam radiation therapy: Case report and review. ( 29907515 )
2018
18
Yeast-Based Screen to Identify Natural Compounds with a Potential Therapeutic Effect in Hailey-Hailey Disease. ( 29925776 )
2018
19
Identification of a recurrent mutation in ATP2C1 demonstrates that papular acantholytic dyskeratosis and Hailey-Hailey disease are allelic disorders. ( 29944739 )
2018
20
Segmental Hailey-Hailey disease of the vulva. ( 30168169 )
2018
21
Acitretin as a successful treatment for Hailey-Hailey disease. ( 30280408 )
2018
22
Hailey-Hailey disease successfully treated with vitamin D oral supplementation. ( 30291662 )
2018
23
Treatment of Severe Hailey-Hailey Disease With Apremilast. ( 30304341 )
2018
24
Looking for a Treatment for Hailey-Hailey Disease: The Importance of Being Consistent in Case Reports. ( 30322310 )
2018
25
Safety of Topical Calcineurin Inhibitors for Hailey-Hailey Disease. ( 30422293 )
2018
26
Safety of Topical Calcineurin Inhibitors for Hailey-Hailey Disease-Reply. ( 30422296 )
2018
27
Altered levels of focal adhesion and extracellular matrix-receptor interacting proteins were identified in Hailey-Hailey disease by quantitative iTRAQ proteome analysis. ( 30506709 )
2018
28
Hailey-Hailey disease due to ATP2C1 splice site mutation, successfully treated with minocycline hydrochloride. ( 28653466 )
2017
29
Dermoscopic and reflectance confocal microscopic presentation of Hailey-Hailey disease: A case series. ( 28782140 )
2017
30
Hailey-Hailey Disease Presenting as Lichenoid Plaques on the Thigh. ( 29139371 )
2017
31
Low-Dose Naltrexone Treatment of Familial Benign Pemphigus (Hailey-Hailey Disease). ( 28768314 )
2017
32
Hailey-Hailey Disease and Reduction Mammoplasty: Surgical Treatment of a Gene Mutation. ( 28916958 )
2017
33
Oral magnesium chloride: A novel approach in the management of Hailey-Hailey disease. ( 28164896 )
2017
34
The coexistence of Darier's disease and Hailey-Hailey disease symptoms. ( 28507500 )
2017
35
Hailey-Hailey Disease With Coexistent Herpes Virus Infection: Insights Into the Diagnostic Conundrum of Herpetic/Pseudoherpetic Features in Cutaneous Acantholytic Disorders. ( 28475517 )
2017
36
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
37
Treatment of Hailey-Hailey Disease With Low-Dose Naltrexone. ( 28768313 )
2017
38
The Effect of Cryotherapy in Hailey-Hailey Disease. ( 28223763 )
2017
39
Dermoscopic presentation of Hailey-Hailey disease. ( 28087023 )
2017
40
The role of the ATP2C1 gene in Hailey-Hailey disease. ( 28551824 )
2017
41
Is photodynamic therapy a relevant therapeutic option in refractory benign familial pemphigus (Hailey-Hailey disease)? A series of eight patients. ( 28301978 )
2017
42
A Case of Hailey-Hailey Disease with a Novel Nonsense Mutation in the ATP2C1 Gene. ( 28966528 )
2017
43
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
44
Interventional treatments for Hailey-Hailey disease. ( 27745906 )
2016
45
Exacerbation of Hailey-Hailey disease by topiramate. ( 27510943 )
2016
46
Hailey-Hailey disease. ( 27057511 )
2016
47
Four novel ATP2C1 mutations in Chinese patients with Hailey-Hailey disease. ( 27095120 )
2016
48
The loss of ATP2C1 impairs the DNA damage response and induces altered skin homeostasis: Consequences for epidermal biology in Hailey-Hailey disease. ( 27528123 )
2016
49
Papular acantholytic dyskeratosis of the vulva associated with familial Hailey-Hailey disease. ( 27028372 )
2016
50
Good Response to Doxycycline in Hailey-Hailey Disease. ( 26810769 )
2016

Variations for Benign Chronic Pemphigus

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

76 (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

ClinVar genetic disease variations for Benign Chronic Pemphigus:

6 (show top 50) (show all 95)
# 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

Copy number variations for Benign Chronic Pemphigus from CNVD:

7
# 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:

# 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:

# 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:

(show all 16)
# 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 8.92 ATP13A5 ATP2A2 ATP2C1 ATP2C2

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 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 9.67 ATP13A5 ATP2A2 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
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
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47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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