HHD
MCID: BNG091
MIFTS: 51

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 57 12 53 25
Hailey-Hailey Disease 57 12 76 53 25 59 75 13 55 15
Pemphigus, Benign Familial 57 12 25 44
Familial Benign Pemphigus 53 29 6 73
Familial Benign Chronic Pemphigus 25 59 37
Benign Familial Pemphigus 53 25 75
Bcpm 57 53
Hhd 57 75
Benign Chronic Familial Pemphigus of Hailey-Hailey 59
Pemphigus, Chronic, Benign ) 40
Hailey-Hailey Disease; Hhd 57
Haileyhailey Disease 76

Characteristics:

Orphanet epidemiological data:

59
familial benign chronic pemphigus
Inheritance: Autosomal dominant; Age of onset: Adult; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
benign chronic pemphigus:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

OMIM 57 169600
Disease Ontology 12 DOID:0050429
ICD10 33 Q82.8
MeSH 44 D016506
NCIt 50 C82865
SNOMED-CT 68 79468000
Orphanet 59 ORPHA2841
UMLS via Orphanet 74 C0085106
ICD10 via Orphanet 34 Q82.8
MedGen 42 C0085106
KEGG 37 H00844
UMLS 73 C0085106

Summaries for Benign Chronic Pemphigus

NIH Rare Diseases : 53 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, testes and liver, 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 : 25 Benign chronic pemphigus, often called Hailey-Hailey disease, is a rare skin condition that usually appears in early adulthood. The disorder is characterized by red, raw, and blistered areas of skin that occur most often in skin folds, such as the groin, armpits, neck, and under the breasts. These inflamed areas can become crusty or scaly and may itch and burn. The skin problems tend to worsen with exposure to moisture (such as sweat), friction, and hot weather.

OMIM : 57 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 : 75 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 : 76 Hailey�??Hailey disease, or familial benign chronic pemphigus or familial benign pemphigus, was... 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 47)
# Related Disease Score Top Affiliating Genes
1 pemphigus 31.1 ATP2C1 DSP JUP
2 pemphigus vulgaris 30.2 DSP JUP
3 keratosis 30.0 ATP2A2 DSP
4 darier-white disease 28.9 ATP2A2 ATP2C1 ATP2C2 CDH3 DSP JUP
5 squamous cell carcinoma 10.5
6 dermatitis 10.4
7 scabies 10.4
8 bullous pemphigoid 10.4
9 herpes simplex 10.4
10 acrokeratosis verruciformis 10.2
11 multiple sclerosis 10.2
12 pemphigus vulgaris, familial 10.2
13 graves' disease 10.2
14 candidiasis 10.2
15 hidradenitis suppurativa 10.2
16 hidradenitis 10.2
17 contact dermatitis 10.2
18 genital herpes 10.2
19 viral infectious disease 10.2
20 acute generalized exanthematous pustulosis 10.2
21 psoriasis 10.1
22 grover's disease 10.0 DSP JUP
23 epidermolysis bullosa, lethal acantholytic 10.0 DSP JUP
24 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.0 DSP JUP
25 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.0 DSP JUP
26 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.0 DSP JUP
27 palmoplantar keratoderma and woolly hair 10.0 DSP JUP
28 arrhythmogenic right ventricular dysplasia, familial, 1 10.0 DSP JUP
29 naxos disease 10.0 DSP JUP
30 ectodermal dysplasia/skin fragility syndrome 10.0 DSP JUP
31 arrhythmogenic right ventricular dysplasia, familial, 9 10.0 DSP JUP
32 arrhythmogenic right ventricular dysplasia, familial, 8 10.0 DSP JUP
33 cardiomyopathy, dilated, with woolly hair and keratoderma 10.0 DSP JUP
34 palmoplantar keratosis 10.0 DSP JUP
35 bullous skin disease 10.0 ATP2A2 ATP2C1 DSP
36 skin disease 10.0 ATP2A2 ATP2C1 DSP
37 cellulitis 10.0 ATP2A2 ATP2C1 DSP
38 intrinsic cardiomyopathy 9.9 DSP JUP
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 hair disease 9.8 CDH3 DSP
47 atrial standstill 1 9.8 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Benign Chronic Pemphigus:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperkeratosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000962
2 erythema 59 32 hallmark (90%) Very frequent (99-80%) HP:0010783
3 skin vesicle 59 32 hallmark (90%) Very frequent (99-80%) HP:0200037
4 skin erosion 59 32 hallmark (90%) Very frequent (99-80%) HP:0200041
5 acantholysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0100792

MGI Mouse Phenotypes related to Benign Chronic Pemphigus:

46
# 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):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved 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

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

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 29 ATP2C1

Anatomical Context for Benign Chronic Pemphigus

MalaCards organs/tissues related to Benign Chronic Pemphigus:

41
Skin, Testes, Liver

Publications for Benign Chronic Pemphigus

Articles related to Benign Chronic Pemphigus:

(show top 50) (show all 371)
# Title Authors Year
1
Generalized familial benign chronic pemphigus (Hailey-Hailey disease) treated successfully with low-dose naltrexone. ( 30167446 )
2018
2
Low-dose naltrexone: a novel treatment for Hailey-Hailey disease. ( 28991360 )
2018
3
Treatment of Hailey-Hailey disease with botulinum toxin. ( 29044476 )
2018
4
Variable Response to Naltrexone in Patients With Hailey-Hailey Disease. ( 29344611 )
2018
5
Mild case of Hailey-Hailey disease caused by a novel ATP2C1 mutation. ( 29383827 )
2018
6
Narrowband UV-B Phototherapy in the Treatment of Generalized Hailey-Hailey Disease. ( 29467079 )
2018
7
Store-independent coupling between the Secretory Pathway Ca2+ transport ATPase SPCA1 and Orai1 in Golgi stress and Hailey-Hailey disease. ( 29555205 )
2018
8
Dermoscopy of Hailey Hailey Disease. ( 29644210 )
2018
9
Mild Hailey-Hailey disease cases with aberrant splicing variants of ATP2C1 successfully controlled with excimer light. ( 29705999 )
2018
10
Hailey-Hailey disease patient with a novel missense mutation in ATP2C1 successfully treated with minocycline hydrochloride. ( 29740863 )
2018
11
A Case of Hailey-Hailey Disease Managed With Oral Magnesium Citrate and High-Dose Vitamin D3. ( 29865954 )
2018
12
Botulinum toxin type A for the first-line treatment of Hailey-Hailey disease. ( 29896862 )
2018
13
Long-term improvement of recalcitrant Hailey-Hailey disease with electron beam radiation therapy: Case report and review. ( 29907515 )
2018
14
Yeast-Based Screen to Identify Natural Compounds with a Potential Therapeutic Effect in Hailey-Hailey Disease. ( 29925776 )
2018
15
Identification of a recurrent mutation in ATP2C1 demonstrates that papular acantholytic dyskeratosis and Hailey-Hailey disease are allelic disorders. ( 29944739 )
2018
16
Segmental Hailey-Hailey disease of the vulva. ( 30168169 )
2018
17
Acitretin as a successful treatment for Hailey-Hailey disease. ( 30280408 )
2018
18
Hailey-Hailey disease successfully treated with vitamin D oral supplementation. ( 30291662 )
2018
19
Treatment of Severe Hailey-Hailey Disease With Apremilast. ( 30304341 )
2018
20
Looking for a Treatment for Hailey-Hailey Disease: The Importance of Being Consistent in Case Reports. ( 30322310 )
2018
21
Safety of Topical Calcineurin Inhibitors for Hailey-Hailey Disease. ( 30422293 )
2018
22
Safety of Topical Calcineurin Inhibitors for Hailey-Hailey Disease-Reply. ( 30422296 )
2018
23
Altered levels of focal adhesion and extracellular matrix-receptor interacting proteins were identified in Hailey-Hailey disease by quantitative iTRAQ proteome analysis. ( 30506709 )
2018
24
Hailey-Hailey disease due to ATP2C1 splice site mutation, successfully treated with minocycline hydrochloride. ( 28653466 )
2017
25
Dermoscopic and reflectance confocal microscopic presentation of Hailey-Hailey disease: A case series. ( 28782140 )
2017
26
Hailey-Hailey Disease Presenting as Lichenoid Plaques on the Thigh. ( 29139371 )
2017
27
Low-Dose Naltrexone Treatment of Familial Benign Pemphigus (Hailey-Hailey Disease). ( 28768314 )
2017
28
Hailey-Hailey Disease and Reduction Mammoplasty: Surgical Treatment of a Gene Mutation. ( 28916958 )
2017
29
Oral magnesium chloride: A novel approach in the management of Hailey-Hailey disease. ( 28164896 )
2017
30
The coexistence of Darier's disease and Hailey-Hailey disease symptoms. ( 28507500 )
2017
31
Hailey-Hailey Disease With Coexistent Herpes Virus Infection: Insights Into the Diagnostic Conundrum of Herpetic/Pseudoherpetic Features in Cutaneous Acantholytic Disorders. ( 28475517 )
2017
32
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
33
Treatment of Hailey-Hailey Disease With Low-Dose Naltrexone. ( 28768313 )
2017
34
The Effect of Cryotherapy in Hailey-Hailey Disease. ( 28223763 )
2017
35
Dermoscopic presentation of Hailey-Hailey disease. ( 28087023 )
2017
36
The role of the ATP2C1 gene in Hailey-Hailey disease. ( 28551824 )
2017
37
Is photodynamic therapy a relevant therapeutic option in refractory benign familial pemphigus (Hailey-Hailey disease)? A series of eight patients. ( 28301978 )
2017
38
A Case of Hailey-Hailey Disease with a Novel Nonsense Mutation in the ATP2C1 Gene. ( 28966528 )
2017
39
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
40
Psoriasiform Hailey-Hailey Disease Presenting as Erythematous Psoriasiform Plaques Throughout the Body: A Case Report. ( 29236657 )
2017
41
Interventional treatments for Hailey-Hailey disease. ( 27745906 )
2016
42
Exacerbation of Hailey-Hailey disease by topiramate. ( 27510943 )
2016
43
Hailey-Hailey disease. ( 27057511 )
2016
44
Four novel ATP2C1 mutations in Chinese patients with Hailey-Hailey disease. ( 27095120 )
2016
45
The loss of ATP2C1 impairs the DNA damage response and induces altered skin homeostasis: Consequences for epidermal biology in Hailey-Hailey disease. ( 27528123 )
2016
46
Papular acantholytic dyskeratosis of the vulva associated with familial Hailey-Hailey disease. ( 27028372 )
2016
47
Good Response to Doxycycline in Hailey-Hailey Disease. ( 26810769 )
2016
48
Novel clinical and molecular findings in Chinese families with Hailey-Hailey disease: an update. ( 27663161 )
2016
49
Hailey-Hailey disease. ( 27657314 )
2016
50
The efficacy of botulinum toxin type A in the treatment of Hailey-Hailey disease. ( 26970226 )
2016

Variations for Benign Chronic Pemphigus

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

75 (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
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 93)
# Gene Variation Type Significance SNP ID Assembly Location
1 ATP2C1 NM_014382.3: c.769_772dupCCTC duplication Pathogenic
2 ATP2C1 NM_001001486.1(ATP2C1): c.910G> A (p.Ala304Thr) single nucleotide variant Pathogenic rs137853012 GRCh37 Chromosome 3, 130682825: 130682825
3 ATP2C1 NM_001001486.1(ATP2C1): c.910G> A (p.Ala304Thr) single nucleotide variant Pathogenic rs137853012 GRCh38 Chromosome 3, 130963981: 130963981
4 ATP2C1 NM_001001486.1(ATP2C1): c.1402C> T (p.Arg468Ter) single nucleotide variant Pathogenic rs137853013 GRCh37 Chromosome 3, 130688229: 130688229
5 ATP2C1 NM_001001486.1(ATP2C1): c.1402C> T (p.Arg468Ter) single nucleotide variant Pathogenic rs137853013 GRCh38 Chromosome 3, 130969385: 130969385
6 ATP2C1 NG_007379.2: g.118446G> A single nucleotide variant Pathogenic GRCh37 Chromosome 3, 130682814: 130682814
7 ATP2C1 NG_007379.2: g.118446G> A single nucleotide variant Pathogenic GRCh38 Chromosome 3, 130963970: 130963970
8 ATP2C1 NM_001001486.1(ATP2C1): c.1469G> T (p.Cys490Phe) single nucleotide variant Pathogenic rs137853014 GRCh37 Chromosome 3, 130694231: 130694231
9 ATP2C1 NM_001001486.1(ATP2C1): c.1469G> T (p.Cys490Phe) single nucleotide variant Pathogenic rs137853014 GRCh38 Chromosome 3, 130975387: 130975387
10 ATP2C1 NM_014382.3: c.2460delG deletion Pathogenic
11 ATP2C1 NM_001001486.1(ATP2C1): c.1751T> C (p.Leu584Pro) single nucleotide variant Pathogenic rs137853015 GRCh37 Chromosome 3, 130699435: 130699435
12 ATP2C1 NM_001001486.1(ATP2C1): c.1751T> C (p.Leu584Pro) single nucleotide variant Pathogenic rs137853015 GRCh38 Chromosome 3, 130980591: 130980591
13 ATP2C1 ATP2C1, IVS22, G-A, +1 single nucleotide variant Pathogenic
14 ATP2C1 NM_014382.3(ATP2C1): c.-66C> T single nucleotide variant Uncertain significance rs886057979 GRCh38 Chromosome 3, 130894704: 130894704
15 ATP2C1 NM_014382.3(ATP2C1): c.-66C> T single nucleotide variant Uncertain significance rs886057979 GRCh37 Chromosome 3, 130613548: 130613548
16 ATP2C1 NM_014382.3(ATP2C1): c.585T> C (p.Cys195=) single nucleotide variant Likely benign rs2760272 GRCh38 Chromosome 3, 130953874: 130953874
17 ATP2C1 NM_014382.3(ATP2C1): c.585T> C (p.Cys195=) single nucleotide variant Likely benign rs2760272 GRCh37 Chromosome 3, 130672718: 130672718
18 ATP2C1 NM_014382.3(ATP2C1): c.996G> A (p.Val332=) single nucleotide variant Uncertain significance rs886057982 GRCh38 Chromosome 3, 130964067: 130964067
19 ATP2C1 NM_014382.3(ATP2C1): c.996G> A (p.Val332=) single nucleotide variant Uncertain significance rs886057982 GRCh37 Chromosome 3, 130682911: 130682911
20 ATP2C1 NM_014382.3(ATP2C1): c.1683C> T (p.Ala561=) single nucleotide variant Likely benign rs114319700 GRCh38 Chromosome 3, 130979361: 130979361
21 ATP2C1 NM_014382.3(ATP2C1): c.1683C> T (p.Ala561=) single nucleotide variant Likely benign rs114319700 GRCh37 Chromosome 3, 130698205: 130698205
22 ATP2C1 NM_014382.3(ATP2C1): c.2598G> A (p.Lys866=) single nucleotide variant Benign rs16835513 GRCh37 Chromosome 3, 130718472: 130718472
23 ATP2C1 NM_014382.3(ATP2C1): c.2598G> A (p.Lys866=) single nucleotide variant Benign rs16835513 GRCh38 Chromosome 3, 130999628: 130999628
24 ATP2C1 NM_014382.3(ATP2C1): c.*127A> G single nucleotide variant Uncertain significance rs767826698 GRCh37 Chromosome 3, 130720321: 130720321
25 ATP2C1 NM_014382.3(ATP2C1): c.*127A> G single nucleotide variant Uncertain significance rs767826698 GRCh38 Chromosome 3, 131001477: 131001477
26 ATP2C1 NM_014382.3(ATP2C1): c.-213C> A single nucleotide variant Likely benign rs181664730 GRCh38 Chromosome 3, 130894557: 130894557
27 ATP2C1 NM_014382.3(ATP2C1): c.-213C> A single nucleotide variant Likely benign rs181664730 GRCh37 Chromosome 3, 130613401: 130613401
28 ATP2C1 NM_014382.3(ATP2C1): c.-64A> G single nucleotide variant Uncertain significance rs886057980 GRCh38 Chromosome 3, 130894706: 130894706
29 ATP2C1 NM_014382.3(ATP2C1): c.-64A> G single nucleotide variant Uncertain significance rs886057980 GRCh37 Chromosome 3, 130613550: 130613550
30 ATP2C1 NM_014382.3(ATP2C1): c.135T> C (p.Gly45=) single nucleotide variant Uncertain significance rs753216597 GRCh38 Chromosome 3, 130932039: 130932039
31 ATP2C1 NM_014382.3(ATP2C1): c.135T> C (p.Gly45=) single nucleotide variant Uncertain significance rs753216597 GRCh37 Chromosome 3, 130650883: 130650883
32 ATP2C1 NM_014382.3(ATP2C1): c.532-6C> T single nucleotide variant Uncertain significance rs886057981 GRCh38 Chromosome 3, 130953815: 130953815
33 ATP2C1 NM_014382.3(ATP2C1): c.532-6C> T single nucleotide variant Uncertain significance rs886057981 GRCh37 Chromosome 3, 130672659: 130672659
34 ATP2C1 NM_014382.3(ATP2C1): c.636G> A (p.Ser212=) single nucleotide variant Benign rs6810181 GRCh38 Chromosome 3, 130953925: 130953925
35 ATP2C1 NM_014382.3(ATP2C1): c.636G> A (p.Ser212=) single nucleotide variant Benign rs6810181 GRCh37 Chromosome 3, 130672769: 130672769
36 ATP2C1 NM_014382.3(ATP2C1): c.1348G> A (p.Ala450Thr) single nucleotide variant Likely benign rs41434650 GRCh38 Chromosome 3, 130969331: 130969331
37 ATP2C1 NM_014382.3(ATP2C1): c.1348G> A (p.Ala450Thr) single nucleotide variant Likely benign rs41434650 GRCh37 Chromosome 3, 130688175: 130688175
38 ATP2C1 NM_014382.3(ATP2C1): c.1840-12G> A single nucleotide variant Likely benign rs201666095 GRCh38 Chromosome 3, 130992939: 130992939
39 ATP2C1 NM_014382.3(ATP2C1): c.1840-12G> A single nucleotide variant Likely benign rs201666095 GRCh37 Chromosome 3, 130711783: 130711783
40 ATP2C1 NM_014382.3(ATP2C1): c.2057+7T> A single nucleotide variant Uncertain significance rs368071107 GRCh38 Chromosome 3, 130994105: 130994105
41 ATP2C1 NM_014382.3(ATP2C1): c.2057+7T> A single nucleotide variant Uncertain significance rs368071107 GRCh37 Chromosome 3, 130712949: 130712949
42 ATP2C1 NM_014382.3(ATP2C1): c.2694T> C (p.Val898=) single nucleotide variant Uncertain significance rs886057983 GRCh37 Chromosome 3, 130720128: 130720128
43 ATP2C1 NM_014382.3(ATP2C1): c.2694T> C (p.Val898=) single nucleotide variant Uncertain significance rs886057983 GRCh38 Chromosome 3, 131001284: 131001284
44 ATP2C1 NM_014382.3(ATP2C1): c.*343T> A single nucleotide variant Uncertain significance rs777719092 GRCh37 Chromosome 3, 130720537: 130720537
45 ATP2C1 NM_014382.3(ATP2C1): c.*343T> A single nucleotide variant Uncertain significance rs777719092 GRCh38 Chromosome 3, 131001693: 131001693
46 ATP2C1 NM_014382.3(ATP2C1): c.*686G> A single nucleotide variant Likely benign rs150024961 GRCh37 Chromosome 3, 130720880: 130720880
47 ATP2C1 NM_014382.3(ATP2C1): c.*686G> A single nucleotide variant Likely benign rs150024961 GRCh38 Chromosome 3, 131002036: 131002036
48 ATP2C1 NM_014382.3(ATP2C1): c.*998C> T single nucleotide variant Likely benign rs116671177 GRCh37 Chromosome 3, 130721192: 130721192
49 ATP2C1 NM_014382.3(ATP2C1): c.*998C> T single nucleotide variant Likely benign rs116671177 GRCh38 Chromosome 3, 131002348: 131002348
50 ATP2C1 NM_014382.3(ATP2C1): c.*1203delC deletion Uncertain significance rs886057988 GRCh37 Chromosome 3, 130721397: 130721397

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
12.86 ATP13A5 ATP2A2 ATP2C1 ATP2C2
2
Show member pathways
12.29 ATP13A5 ATP2A2 ATP2C1 ATP2C2
3
Show member pathways
11.95 ATP2A2 DSP JUP
4
Show member pathways
11.75 ATP13A5 ATP2A2 ATP2C1 ATP2C2
5 11.42 CDH3 DSP JUP
6 11.01 CDH3 JUP
7 10.83 DSP JUP
8 10.55 ATP2A2 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 9.95 ATP13A5 ATP2A2 ATP2C1 ATP2C2 CDH3 DSP
2 cell-cell adherens junction GO:0005913 9.43 CDH3 JUP
3 cornified envelope GO:0001533 9.37 DSP JUP
4 cytoplasmic side of plasma membrane GO:0009898 9.32 ATP2C2 JUP
5 intercalated disc GO:0014704 9.26 DSP JUP
6 catenin complex GO:0016342 9.16 CDH3 JUP
7 desmosome GO:0030057 8.96 DSP JUP
8 fascia adherens GO:0005916 8.62 DSP JUP

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

(show all 17)
# 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 wound healing GO:0042060 9.57 CDH3 DSP
7 positive regulation of canonical Wnt signaling pathway GO:0090263 9.56 CDH3 JUP
8 calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules GO:0016339 9.55 ATP2C1 CDH3
9 skin development GO:0043588 9.54 DSP JUP
10 epidermis development GO:0008544 9.54 ATP2A2 ATP2C1 DSP
11 regulation of heart rate by cardiac conduction GO:0086091 9.52 DSP JUP
12 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.43 DSP JUP
13 adherens junction organization GO:0034332 9.33 CDH3 DSP JUP
14 manganese ion transmembrane transport GO:0071421 9.32 ATP2C1 ATP2C2
15 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.26 DSP JUP
16 cellular calcium ion homeostasis GO:0006874 9.26 ATP13A5 ATP2A2 ATP2C1 ATP2C2
17 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 ATP binding GO:0005524 9.67 ATP13A5 ATP2A2 ATP2C1 ATP2C2
2 cell adhesion molecule binding GO:0050839 9.32 DSP JUP
3 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 9.26 DSP JUP
4 manganese-transporting ATPase activity GO:0015410 9.16 ATP2C1 ATP2C2
5 proton-exporting ATPase activity, phosphorylative mechanism GO:0008553 9.13 ATP2A2 ATP2C1 ATP2C2
6 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 ExPASy
19 FMA
28 GO
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31 HMDB
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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