MCID: PCH010
MIFTS: 38

Pachyonychia Congenita 3

Categories: Genetic diseases, Rare diseases, Fetal diseases, Skin diseases

Aliases & Classifications for Pachyonychia Congenita 3

MalaCards integrated aliases for Pachyonychia Congenita 3:

Name: Pachyonychia Congenita 3 53 71 28 69
Pc3 53 71

Classifications:



Summaries for Pachyonychia Congenita 3

OMIM : 53 Pachyonychia congenita (PC) is an autosomal dominant genodermatosis with the main clinical features of hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts. Although the condition had previously been subdivided clinically into Jadassohn-Lewandowsky PC type 1 and Jackson-Lawler PC type 2, patients with PC were later found to have a mixed constellation of both types, leading to a classification of PC based on genotype (summary by Sybert, 2010; Eliason et al., 2012; McLean et al., 2011). For a discussion of genetic heterogeneity of pachyonychia congenita, see 167200. (615726)

MalaCards based summary : Pachyonychia Congenita 3, also known as pc3, is related to prostatitis and prostate cancer, and has symptoms including hyperhidrosis, palmoplantar keratoderma and nail dystrophy. An important gene associated with Pachyonychia Congenita 3 is KRT6A (Keratin 6A). The drugs Remifentanil and Analgesics have been mentioned in the context of this disorder. Affiliated tissues include prostate, breast and tongue.

UniProtKB/Swiss-Prot : 71 Pachyonychia congenita 3: An autosomal dominant genodermatosis characterized by hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts.

Related Diseases for Pachyonychia Congenita 3

Diseases in the Pachyonychia Congenita, Autosomal Recessive family:

Pachyonychia Congenita 1 Pachyonychia Congenita 2
Pachyonychia Congenita 3 Pachyonychia Congenita 4

Diseases related to Pachyonychia Congenita 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 prostatitis 10.8
2 prostate cancer 10.7
3 hypoxia 10.0
4 small cell carcinoma 9.9
5 prostate small cell carcinoma 9.9
6 medulloblastoma 9.8
7 antigen defined by monoclonal antibody aj9 9.8
8 aural atresia, congenital 9.8
9 pituitary adenoma 9.8
10 adenoma 9.8
11 neuronitis 9.8
12 ring chromosome y syndrome 9.8

Graphical network of the top 20 diseases related to Pachyonychia Congenita 3:



Diseases related to Pachyonychia Congenita 3

Symptoms & Phenotypes for Pachyonychia Congenita 3

Clinical features from OMIM:

615726

Human phenotypes related to Pachyonychia Congenita 3:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 hyperhidrosis 31 HP:0000975
2 palmoplantar keratoderma 31 HP:0000982
3 nail dystrophy 31 HP:0008404
4 gingivitis 31 HP:0000230
5 furrowed tongue 31 HP:0000221
6 oral leukoplakia 31 HP:0002745
7 onychogryposis of toenails 31 HP:0008401
8 palmar hyperkeratosis 31 HP:0010765
9 plantar hyperkeratosis 31 HP:0007556
10 epidermoid cyst 31 HP:0200040
11 chapped lip 31 HP:0040181

Drugs & Therapeutics for Pachyonychia Congenita 3

Drugs for Pachyonychia Congenita 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 43)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Remifentanil Approved Phase 4 132875-61-7 60815
2 Analgesics Phase 4
3 Central Nervous System Depressants Phase 4
4 Narcotics Phase 4
5 Analgesics, Opioid Phase 4
6 Anesthetics Phase 4
7 Anesthetics, General Phase 4
8 Anesthetics, Intravenous Phase 4
9 Peripheral Nervous System Agents Phase 4
10 Hypnotics and Sedatives Phase 4
11
Gemcitabine Approved Phase 3 95058-81-4 60750
12 Gastrins Phase 3
13 Hormone Antagonists Phase 3,Phase 1,Phase 2
14 Hormones Phase 3,Phase 1,Phase 2
15 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 1,Phase 2
16 Anti-Infective Agents Phase 3
17 Immunoglobulins Phase 3
18 Immunosuppressive Agents Phase 3,Phase 1,Phase 2
19 Antimetabolites Phase 3
20 Antimetabolites, Antineoplastic Phase 3
21 Antibodies Phase 3
22 Antiviral Agents Phase 3
23
Testosterone Approved, Investigational Phase 1, Phase 2 58-22-0 6013
24
Cyclophosphamide Approved, Investigational Phase 1, Phase 2 50-18-0, 6055-19-2 2907
25 Vaccines Phase 1, Phase 2
26 Keyhole-limpet hemocyanin Phase 1, Phase 2
27 Alkylating Agents Phase 1, Phase 2
28 Androgens Phase 1, Phase 2
29 Antirheumatic Agents Phase 1, Phase 2
30 Lecithin Nutraceutical Phase 2
31
Fluoxetine Approved, Vet_approved 54910-89-3 3386
32 penicillins
33 Anti-Bacterial Agents
34
Serotonin 50-67-9 5202
35 Serotonin Agents
36 Serotonin Uptake Inhibitors
37 Neurotransmitter Agents
38 Neurotransmitter Uptake Inhibitors
39 Cytochrome P-450 CYP2D6 Inhibitors
40 Cytochrome P-450 Enzyme Inhibitors
41 Antidepressive Agents
42 Antidepressive Agents, Second-Generation
43 Psychotropic Drugs

Interventional clinical trials:

(show all 11)

# Name Status NCT ID Phase Drugs
1 Concentrations of Remifentanil for Extubation Completed NCT02711904 Phase 4 Extubation U;Extubation T
2 An Open Label Study to Evaluate G17DT Compared to Gemcitabine Completed NCT03200821 Phase 3 Gemcitabine
3 Dendritic Cell Vaccine Study (DC/PC3) for Prostate Cancer Completed NCT00345293 Phase 1, Phase 2
4 Dose Finding Study for Retarded Phosphatidylcholine in Pancolitis Completed NCT00259558 Phase 2 retarded release phosphatidylcholine
5 A Neoadjuvant Study of Androgen Ablation Combined With Cyclophosphamide and GVAX Vaccine for Localized Prostate Cancer Active, not recruiting NCT01696877 Phase 1, Phase 2 degarelix acetate;Cyclophosphamide;GVAX
6 Selinexor (KPT-330) in Patients With Metastatic Castration-Resistant Prostate Cancer and Prior Therapy With Abiraterone and/or Enzalutamide Active, not recruiting NCT02215161 Phase 2 Selinexor
7 Desensitization of Human Mast Cells: Mechanisms and Potential Utility for Preventing Anaphylaxis Completed NCT00868842
8 Desensitization and Cross-Desensitization During Oral Grass or Ragweed Pollen Immunotherapy Recruiting NCT02676765 Allergen;Placebo
9 Local Effects of Acupuncture and Nerve Conduction Studies Recruiting NCT03036657
10 Warm Acupuncture for Breast Cancer Related Lymphedema Recruiting NCT03373474
11 Acupuncture for Ischemic Post-stroke Depression Recruiting NCT02472613 placebo;Fluoxetine

Search NIH Clinical Center for Pachyonychia Congenita 3

Genetic Tests for Pachyonychia Congenita 3

Genetic tests related to Pachyonychia Congenita 3:

# Genetic test Affiliating Genes
1 Pachyonychia Congenita 3 28 KRT6A

Anatomical Context for Pachyonychia Congenita 3

MalaCards organs/tissues related to Pachyonychia Congenita 3:

38
Prostate, Breast, Tongue

Publications for Pachyonychia Congenita 3

Articles related to Pachyonychia Congenita 3:

(show top 50) (show all 164)
# Title Authors Year
1
Tetraspanin CD151 mediates communication between PC3 prostate cancer cells and osteoblasts. ( 28291843 )
2017
2
Lectin PCL inhibits the Warburg effect of PC3 cells by combining with EGFR and inhibiting HK2. ( 28098871 )
2017
3
Effect of Carvacrol on CaA^a8_ Movement and Viability in PC3 Human Prostate Cancer Cells. ( 28950692 )
2017
4
The reduction of IL-6 gene expression, pAKT, pERK1/2, pSTAT3 signaling pathways and invasion activity by gallic acid in prostate cancer PC3 cells. ( 27665471 )
2016
5
Stroma-induced Jagged1 expression drives PC3 prostate cancer cell migration; disparate effects of RIP-generated proteolytic fragments on cell behaviour and Notch signaling. ( 26921446 )
2016
6
ID4 promotes AR expression and blocks tumorigenicity of PC3 prostate cancer cells. ( 27462022 )
2016
7
Effect of AQP9 Expression in Androgen-Independent Prostate Cancer Cell PC3. ( 27187384 )
2016
8
Intracellular EP2 prostanoid receptor promotes cancer-related phenotypes in PC3 cells. ( 25828575 )
2015
9
Galectin-3 Overrides PTRF/Cavin-1 Reduction of PC3 Prostate Cancer Cell Migration. ( 25942420 )
2015
10
Inhibiting inducible miR-223 further reduces viable cells in human cancer cell lines MCF-7 and PC3 treated by celastrol. ( 26552919 )
2015
11
NES1/KLK10 gene represses proliferation, enhances apoptosis and down-regulates glucose metabolism of PC3 prostate cancer cells. ( 26616394 )
2015
12
Effects of INPP4B gene transfection combined with PARP inhibitor on castration therapy-resistant prostate cancer cell line, PC3. ( 24837011 )
2014
13
MHY-449, a novel dihydrobenzofuro[4,5-b][1,8] naphthyridin-6-one derivative, induces apoptotic cell death through modulation of Akt/FoxO1 and ERK signaling in PC3 human prostate cancer cells. ( 24424889 )
2014
14
GPNMB/OA protein increases the invasiveness of human metastatic prostate cancer cell lines DU145 and PC3 through MMP-2 and MMP-9 activity. ( 24589892 )
2014
15
[Effects of miR-145 on the migration and invasion of prostate cancer PC3 cells by targeting DAB2]. ( 24846918 )
2014
16
Stabilization of Snail by HIF-1I+ and TNF-I+ is required for hypoxia-induced invasion in prostate cancer PC3 cells. ( 24610352 )
2014
17
A novel PI3K inhibitor displays potent preclinical activity against an androgen-independent and PTEN-deficient prostate cancer model established from the cell line PC3. ( 24831963 )
2014
18
Overexpression of oxidored-nitro domain containing protein 1 induces growth inhibition and apoptosis in human prostate cancer PC3 cells. ( 25118646 )
2014
19
Hypoxia preconditioning of mesenchymal stromal cells enhances PC3 cell lymphatic metastasis accompanied by VEGFR-3/CCR7 activation. ( 23939705 )
2013
20
Epigallocatechin-3-gallate promotes apoptosis and expression of the caspase 9a splice variant in PC3 prostate cancer cells. ( 23615977 )
2013
21
Role of glyoxalase I in the proliferation and apoptosis control of human LNCaP and PC3 prostate cancer cells. ( 22653787 )
2013
22
Inhibition of PARP1 by small interfering RNA enhances docetaxel activity against human prostate cancer PC3 cells. ( 24239883 )
2013
23
CCR1/CCL5 interaction promotes invasion of taxane-resistant PC3 prostate cancer cells by increasing secretion of MMPs 2/9 and by activating ERK and Rac signaling. ( 23876400 )
2013
24
Stabilization of Snail through AKT/GSK-3I^ signaling pathway is required for TNF-I+-induced epithelial-mesenchymal transition in prostate cancer PC3 cells. ( 23769744 )
2013
25
CD151 promotes proliferation and migration of PC3 cells via the formation of CD151-integrin I+3/I+6 complex. ( 22684562 )
2012
26
[Downregulation of PAR expression induces the apoptosis of human prostate cancer PC3 cells and increases the Bcl-2/Bax ratio]. ( 23297497 )
2012
27
The inhibitory effects of NKX3.1 on IGF-1R expression and its signalling pathway in human prostatic carcinoma PC3 cells. ( 22179513 )
2012
28
ETS1 promotes chemoresistance and invasion of paclitaxel-resistant, hormone-refractory PC3 prostate cancer cells by up-regulating MDR1 and MMP9 expression. ( 22206665 )
2012
29
Implications of pleiotrophin in human PC3 prostate cancer cell growth in vivo. ( 22783964 )
2012
30
IL-4 induces proliferation in prostate cancer PC3 cells under nutrient-depletion stress through the activation of the JNK-pathway and survivin up-regulation. ( 22174091 )
2012
31
Myopodin isoforms alter the chemokinetic response of PC3 cells in response to different migration stimuli via differential effects on Rho-ROCK signaling pathways. ( 22915763 )
2012
32
Effect of Id1 knockdown on formation of osteolytic bone lesions by prostate cancer PC3 cells in vivo. ( 22684559 )
2012
33
Re: PC3 is a cell line characteristic of prostatic small cell carcinoma. ( 22682868 )
2012
34
Estrogen receptors I^1 and I^2 have opposing roles in regulating proliferation and bone metastasis genes in the prostate cancer cell line PC3. ( 23028063 )
2012
35
The cdk1-cyclin B complex is involved in everolimus triggered resistance in the PC3 prostate cancer cell line. ( 21925791 )
2011
36
Downregulation of Id1 by small interfering RNA in prostate cancer PC3 cells in vivo and in vitro. ( 20881502 )
2011
37
Comprehensive gene expression microarray analysis of Ets-1 blockade in PC3 prostate cancer cells and correlations with prostate cancer tissues: Insights into genes involved in the metastatic cascade. ( 21424114 )
2011
38
PTRF-cavin-1 expression decreases the migration of PC3 prostate cancer cells: role of matrix metalloprotease 9. ( 20732728 )
2011
39
PC3 is a cell line characteristic of prostatic small cell carcinoma. ( 21432867 )
2011
40
Fyn is downstream of the HGF/MET signaling axis and affects cellular shape and tropism in PC3 cells. ( 21364031 )
2011
41
Matrix-dependent regulation of AKT in Hepsin-overexpressing PC3 prostate cancer cells. ( 21750652 )
2011
42
Suppression of migration and invasion of PC3 prostate cancer cell line via activating E-cadherin expression by small activating RNA. ( 20690797 )
2010
43
MiR-148a attenuates paclitaxel resistance of hormone-refractory, drug-resistant prostate cancer PC3 cells by regulating MSK1 expression. ( 20406806 )
2010
44
Regulation of Erk1/2 activation by osteopontin in PC3 human prostate cancer cells. ( 20868520 )
2010
45
PC3 prostate tumor-initiating cells with molecular profile FAM65Bhigh/MFI2low/LEF1low increase tumor angiogenesis. ( 21190562 )
2010
46
Cyclic bisbibenzyls induce growth arrest and apoptosis of human prostate cancer PC3 cells. ( 20418896 )
2010
47
Fangchinoline induced G1/S arrest by modulating expression of p27, PCNA, and cyclin D in human prostate carcinoma cancer PC3 cells and tumor xenograft. ( 20208355 )
2010
48
Curcumin-induced apoptosis in PC3 prostate carcinoma cells is caspase-independent and involves cellular ceramide accumulation and damage to mitochondria. ( 20358476 )
2010
49
Sodium selenite inhibits the expression of VEGF, TGFbeta(1) and IL-6 induced by LPS in human PC3 cells via TLR4-NF-(K)B signaling blockage. ( 19811770 )
2010
50
ELL is an HIF-1alpha partner that regulates and responds to hypoxia response in PC3 cells. ( 20166137 )
2010

Variations for Pachyonychia Congenita 3

UniProtKB/Swiss-Prot genetic disease variations for Pachyonychia Congenita 3:

71 (show all 24)
# Symbol AA change Variation ID SNP ID
1 KRT6A p.Phe174Val VAR_017075 rs28933087
2 KRT6A p.Leu469Arg VAR_017076 rs57052654
3 KRT6A p.Glu472Lys VAR_017077 rs60554162
4 KRT6A p.Arg164Pro VAR_072446 rs62635293
5 KRT6A p.Gln166Pro VAR_072447 rs267607460
6 KRT6A p.Ile167Asn VAR_072448 rs57126929
7 KRT6A p.Leu170Phe VAR_072449 rs57448541
8 KRT6A p.Asn171Asp VAR_072450 rs62635294
9 KRT6A p.Asn171Lys VAR_072451 rs59685571
10 KRT6A p.Asn171Ser VAR_072452 rs58556099
11 KRT6A p.Asn171Tyr VAR_072453 rs62635294
12 KRT6A p.Phe174Cys VAR_072455 rs61145796
13 KRT6A p.Phe174Ser VAR_072456 rs61145796
14 KRT6A p.Ser176Pro VAR_072457 rs59642296
15 KRT6A p.Ile178Asn VAR_072458 rs267607461
16 KRT6A p.Ile462Asn VAR_072459 rs57629991
17 KRT6A p.Ile462Ser VAR_072460 rs57629991
18 KRT6A p.Ala463Pro VAR_072461 rs267607462
19 KRT6A p.Thr464Pro VAR_072462 rs61293647
20 KRT6A p.Tyr465His VAR_072463 rs267607463
21 KRT6A p.Tyr465Ser VAR_072464
22 KRT6A p.Leu468Pro VAR_072465 rs59018888
23 KRT6A p.Leu468Gln VAR_072466 rs59018888
24 KRT6A p.Leu469Pro VAR_072467 rs57052654

ClinVar genetic disease variations for Pachyonychia Congenita 3:

6 (show all 11)
# Gene Variation Type Significance SNP ID Assembly Location
1 KRT6A NM_005554.3(KRT6A): c.516_518delCAA (p.Asn172del) deletion Pathogenic rs606231214 GRCh37 Chromosome 12, 52886455: 52886457
2 KRT6A NM_005554.3(KRT6A): c.520T> G (p.Phe174Val) single nucleotide variant Pathogenic rs28933087 GRCh37 Chromosome 12, 52886453: 52886453
3 KRT6A NM_005554.3(KRT6A): c.1414G> A (p.Glu472Lys) single nucleotide variant Pathogenic rs60554162 GRCh37 Chromosome 12, 52882122: 52882122
4 KRT6A NM_005554.3(KRT6A): c.1406T> G (p.Leu469Arg) single nucleotide variant Pathogenic rs57052654 GRCh37 Chromosome 12, 52882130: 52882130
5 KRT6A NM_005554.3(KRT6A): c.1406T> C (p.Leu469Pro) single nucleotide variant Pathogenic rs57052654 GRCh37 Chromosome 12, 52882130: 52882130
6 KRT6A NM_005554.3(KRT6A): c.511A> G (p.Asn171Asp) single nucleotide variant Pathogenic rs62635294 GRCh37 Chromosome 12, 52886462: 52886462
7 KRT6A NM_005554.3(KRT6A): c.511A> T (p.Asn171Tyr) single nucleotide variant Pathogenic rs62635294 GRCh37 Chromosome 12, 52886462: 52886462
8 KRT6A NM_005554.3(KRT6A): c.512A> G (p.Asn171Ser) single nucleotide variant Pathogenic rs58556099 GRCh37 Chromosome 12, 52886461: 52886461
9 KRT6A NM_005554.3(KRT6A): c.513C> A (p.Asn171Lys) single nucleotide variant Pathogenic rs59685571 GRCh37 Chromosome 12, 52886460: 52886460
10 KRT6A NM_005554.3(KRT6A): c.521T> C (p.Phe174Ser) single nucleotide variant Pathogenic rs61145796 GRCh37 Chromosome 12, 52886452: 52886452
11 KRT6A NM_005554.3(KRT6A): c.1460-2A> C single nucleotide variant Pathogenic rs113369052 GRCh37 Chromosome 12, 52881741: 52881741

Expression for Pachyonychia Congenita 3

Search GEO for disease gene expression data for Pachyonychia Congenita 3.

Pathways for Pachyonychia Congenita 3

GO Terms for Pachyonychia Congenita 3

Sources for Pachyonychia Congenita 3

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