PC3
MCID: PCH010
MIFTS: 35

Pachyonychia Congenita 3 (PC3)

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

Aliases & Classifications for Pachyonychia Congenita 3

MalaCards integrated aliases for Pachyonychia Congenita 3:

Name: Pachyonychia Congenita 3 57 75 29 6 73
Pc3 57 75
Pachyonychia Congenita, Type 3 40

Classifications:



Summaries for Pachyonychia Congenita 3

OMIM : 57 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 prostate cancer and hypoxia. An important gene associated with Pachyonychia Congenita 3 is KRT6A (Keratin 6A). The drugs Remifentanil and Ketorolac have been mentioned in the context of this disorder. Affiliated tissues include prostate, skin and tongue, and related phenotypes are hyperhidrosis and palmoplantar keratoderma

UniProtKB/Swiss-Prot : 75 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 prostate cancer 11.1
2 hypoxia 10.3
3 small cell carcinoma 10.1
4 colorectal cancer 9.9
5 medulloblastoma 9.9
6 alopecia 9.9
7 insulinoma 9.9
8 leukemia 9.9
9 pertussis 9.9
10 melanoma 9.9
11 adenocarcinoma 9.9
12 cytomegalovirus infection 9.9

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:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 hyperhidrosis 32 HP:0000975
2 palmoplantar keratoderma 32 HP:0000982
3 nail dystrophy 32 HP:0008404
4 gingivitis 32 HP:0000230
5 furrowed tongue 32 HP:0000221
6 oral leukoplakia 32 HP:0002745
7 onychogryposis of toenails 32 HP:0008401
8 palmar hyperkeratosis 32 HP:0010765
9 plantar hyperkeratosis 32 HP:0007556
10 epidermoid cyst 32 HP:0200040
11 chapped lip 32 HP:0040181

Drugs & Therapeutics for Pachyonychia Congenita 3

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

(show top 50) (show all 62)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Remifentanil Approved Phase 4 132875-61-7 60815
2
Ketorolac Approved Phase 4 66635-83-4, 74103-06-3 3826
3
Tramadol Approved, Investigational Phase 4 27203-92-5 33741
4
Ropivacaine Approved Phase 4 84057-95-4 175805 71273
5
Ibuprofen Approved Phase 4 15687-27-1 3672
6
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
7
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
8
Acetaminophen Approved Phase 4 103-90-2 1983
9 Narcotics Phase 4
10 Analgesics Phase 4
11 Anesthetics Phase 4
12 Peripheral Nervous System Agents Phase 4
13 Central Nervous System Depressants Phase 4
14 Anesthetics, Intravenous Phase 4
15 Hypnotics and Sedatives Phase 4
16 Anesthetics, General Phase 4
17 Analgesics, Opioid Phase 4
18 Anti-Infective Agents Phase 4,Phase 3
19 Psychotropic Drugs Phase 4,Not Applicable
20 Neurotransmitter Agents Phase 4,Not Applicable
21 Benzalkonium Compounds Phase 4
22 Contraceptive Agents Phase 4
23 Spermatocidal Agents Phase 4
24 Anti-Infective Agents, Local Phase 4
25 GABA Modulators Phase 4
26 Tranquilizing Agents Phase 4
27 Adjuvants, Anesthesia Phase 4
28 Pharmaceutical Solutions Phase 4
29 Anti-Anxiety Agents Phase 4
30 GABA Agents Phase 4
31
Gemcitabine Approved Phase 3 95058-81-4 60750
32 Hormone Antagonists Phase 3,Phase 1,Phase 2
33 Antiviral Agents Phase 3
34 Immunosuppressive Agents Phase 3,Phase 1,Phase 2
35 Antibodies Phase 3
36 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 1,Phase 2
37 Antimetabolites Phase 3
38 Immunologic Factors Phase 3,Phase 1,Phase 2
39 Gastrins Phase 3
40 Antimetabolites, Antineoplastic Phase 3
41 Hormones Phase 3,Phase 1,Phase 2
42 Immunoglobulins Phase 3
43
Testosterone Approved, Investigational Phase 1, Phase 2 58-22-0 6013
44
Cyclophosphamide Approved, Investigational Phase 1, Phase 2 6055-19-2, 50-18-0 2907
45 Vaccines Phase 1, Phase 2,Phase 2
46 Keyhole-limpet hemocyanin Phase 1, Phase 2
47 Lecithin Phase 2
48 Alkylating Agents Phase 1, Phase 2
49 Antineoplastic Agents, Alkylating Phase 1, Phase 2
50 Androgens Phase 1, Phase 2

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 Concentrations of Remifentanil for Extubation Completed NCT02711904 Phase 4 Extubation U;Extubation T
2 Contraceptive Efficacy, Tolerance and Acceptability of a Benzalkonium Chloride Spermicide Cream In Women Aged Over 40 Years of Age Active, not recruiting NCT03102450 Phase 4 Benzalkonium Chloride Spermicide Cream
3 Does the Preoperative Midazolam Dose Affect Postoperative Pain? Not yet recruiting NCT03534895 Phase 4 Midazolam Injectable Solution;Postoperative analgesia;Rescue analgesia;Wound infiltration;Analgesia at home
4 An Open Label Study to Evaluate G17DT Compared to Gemcitabine Completed NCT03200821 Phase 3 Gemcitabine
5 Dendritic Cell Vaccine Study (DC/PC3) for Prostate Cancer Completed NCT00345293 Phase 1, Phase 2
6 Dose Finding Study for Retarded Phosphatidylcholine in Pancolitis Completed NCT00259558 Phase 2 retarded release phosphatidylcholine
7 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
8 Desensitization of Human Mast Cells: Mechanisms and Potential Utility for Preventing Anaphylaxis Completed NCT00868842
9 Desensitization and Cross-Desensitization During Oral Grass or Ragweed Pollen Immunotherapy Recruiting NCT02676765 Not Applicable Allergen;Placebo
10 Local Effects of Acupuncture and Nerve Conduction Studies Recruiting NCT03036657 Not Applicable
11 Warm Acupuncture for Breast Cancer Related Lymphedema Recruiting NCT03373474 Not Applicable
12 Acupuncture for Ischemic Post-stroke Depression Recruiting NCT02472613 Not Applicable placebo;Fluoxetine
13 Integrating Mindfulness Into the Patient-Centered Medical Home (Phase 3) Not yet recruiting NCT03609450 Not Applicable

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 29 KRT6A

Anatomical Context for Pachyonychia Congenita 3

MalaCards organs/tissues related to Pachyonychia Congenita 3:

41
Prostate, Skin, Tongue, Bone, Pancreatic Islet, Liver, Pituitary

Publications for Pachyonychia Congenita 3

Articles related to Pachyonychia Congenita 3:

(show top 50) (show all 277)
# Title Authors Year
1
MiR-1 inhibits prostate cancer PC3 cells proliferation through the Akt/mTOR signaling pathway by binding to c-Met. ( 30551391 )
2019
2
Humanization of the Prostate Microenvironment Reduces Homing of PC3 Prostate Cancer Cells to Human Tissue-Engineered Bone. ( 30428629 )
2018
3
Effect of glucose and palmitate environment on proliferation and migration of PC3-prostate cancer cells. ( 30353973 )
2018
4
PROSTAGLANDIN E2 stimulates cancer-related phenotypes in prostate cancer PC3 cells through cyclooxygenase-2. ( 30367494 )
2018
5
Maclurin exerts anti-cancer effects on PC3 human prostate cancer cells via activation of p38 and inhibitions of JNK, FAK, AKT, and c-Myc signaling pathways. ( 30340816 )
2018
6
Inhibition of extracellular signal-regulated kinase potentiates the apoptotic and antimetastatic effects of cyclin-dependent kinase inhibitors on metastatic DU145 and PC3 prostate cancer cells. ( 30320903 )
2018
7
A Sterically Constrained Tricyclic PC3 Phosphine: Coordination Behavior and Insertion of Chalcogen Atoms into P-C Bonds. ( 29171723 )
2018
8
Interleukin-4 induces a CD44high /CD49bhigh PC3 subpopulation with tumor-initiating characteristics. ( 29236307 )
2018
9
1-Hydroxy-3-[(E)-4-(piperazine-diium)but-2-enyloxy]-9,10-anthraquinone ditrifluoroactate induced autophagic cell death in human PC3 cells. ( 29273567 )
2018
10
Inhibition of neddylation facilitates cell migration through enhanced phosphorylation of caveolin-1 in PC3 and U373MG cells. ( 29301501 )
2018
11
Monte Carlo calculations of the cellular S-values for α-particle-emitting radionuclides incorporated into the nuclei of cancer cells of the MDA-MB231, MCF7 and PC3 lines. ( 29353192 )
2018
12
Estramustine phosphate induces prostate cancer cell line PC3 apoptosis by down-regulating miR-31 levels. ( 29364469 )
2018
13
Tricin isolated from Allium atroviolaceum potentiated the effect of docetaxel on PC3 cell proliferation: role of miR-21. ( 29447469 )
2018
14
RNA interference-mediated depletion of TRPM8 enhances the efficacy of epirubicin chemotherapy in prostate cancer LNCaP and PC3 cells. ( 29541177 )
2018
15
Hypoxia leads to significant changes in alternative splicing and elevated expression of CLK splice factor kinases in PC3 prostate cancer cells. ( 29606096 )
2018
16
Stimulating effect of palmitate and insulin on cell migration and proliferation in PNT1A and PC3 prostate cells: Counteracting role of metformin. ( 29635803 )
2018
17
Huaier suppresses proliferative and metastatic potential of prostate cancer PC3 cells via downregulation of Lamin B1 and induction of autophagy. ( 29658595 )
2018
18
Estramustine phosphate induces prostate cancer cell line PC3 apoptosis by down-regulating miR-31 levels. ( 29687836 )
2018
19
MicroRNA-652 induces NED in LNCaP and EMT in PC3 prostate cancer cells. ( 29721191 )
2018
20
Graminex Pollen: Phenolic Pattern, Colorimetric Analysis and Protective Effects in Immortalized Prostate Cells (PC3) and Rat Prostate Challenged with LPS. ( 29751604 )
2018
21
Exogenous Indole Regulates Lipopeptide Biosynthesis in Antarctic Bacillus amyloliquefaciens Pc3. ( 29807400 )
2018
22
High mobility group box 1 promotes the epithelial-to-mesenchymal transition in prostate cancer PC3 cells via the RAGE/NF-κB signaling pathway. ( 29845254 )
2018
23
Survey of ionospheric Pc3-5 ULF wave signatures in SuperDARN high time resolution data. ( 29938156 )
2018
24
Radiosensitizing effects of Sestrin2 in PC3 prostate cancer cells. ( 29942453 )
2018
25
Optimization on conditions of podophyllotoxin-loaded liposomes using response surface methodology and its activity on PC3 cells. ( 30022692 )
2018
26
Correlation between DEC1/DEC2 and epithelial‑mesenchymal transition in human prostate cancer PC‑3 cells. ( 30106153 )
2018
27
Zinc enhances chemosensitivity to paclitaxel in PC‑3 prostate cancer cells. ( 30106439 )
2018
28
Androgen receptor expression reduces stemness characteristics of prostate cancer cells (PC3) by repression of CD44 and SOX2. ( 30206982 )
2018
29
Augmentation of Fluvastatin Cytotoxicity Against Prostate Carcinoma PC3 Cell Line Utilizing Alpha Lipoic-Ellagic Acid Nanostructured Lipid Carrier Formula. ( 30350252 )
2018
30
No effect of unacylated ghrelin administration on subcutaneous PC3 xenograft growth or metabolic parameters in a Rag1-/- mouse model of metabolic dysfunction. ( 30458004 )
2018
31
Structural and molecular analysis of the cancer prostate cell line PC3: Oocyte zona pellucida glycoproteins. ( 30503065 )
2018
32
Beryllium Phosphine Complexes: Synthesis, Properties, and Reactivity of (PMe3 )2 BeCl2 and (Ph2 PC3 H6 PPh2 )BeCl2. ( 28004465 )
2017
33
Effect of thymol on Ca²⁺ homeostasis and viability in PC3 human prostate cancer cells. ( 28052644 )
2017
34
Progression-related loss of stromal Caveolin 1 levels fosters the growth of human PC3 xenografts and mediates radiation resistance. ( 28112237 )
2017
35
Apoptotic induction and inhibition of NF-κB signaling pathway in human prostatic cancer PC3 cells by natural compound 2,2'-oxybis (4-allyl-1-methoxybenzene), biseugenol B, from Litsea costalis: an in vitro study. ( 28138251 )
2017
36
Anti-androgen 2-hydroxyflutamide modulates cadherin, catenin and androgen receptor phosphorylation in androgen-sensitive LNCaP and androgen-independent PC3 prostate cancer cell lines acting via PI3K/Akt and MAPK/ERK1/2 pathways. ( 28163245 )
2017
37
Correction: MtDNA depleted PC3 cells exhibit Warburg effect and cancer stem cell features. ( 28179591 )
2017
38
Modulation of the sphingolipid rheostat is involved in paclitaxel resistance of the human prostate cancer cell line PC3-PR. ( 28322796 )
2017
39
In Vitro Incorporation of Radioiodinated Eugenol on Adenocarcinoma Cell Lines (Caco2, MCF7, and PC3). ( 28358602 )
2017
40
Apoptotic effect of demethoxyfumitremorgin C from marine fungus Aspergillus fumigatus on PC3 human prostate cancer cells. ( 28359723 )
2017
41
Auraptene Induces Apoptosis via Myeloid Cell Leukemia 1-Mediated Activation of Caspases in PC3 and DU145 Prostate Cancer Cells. ( 28383142 )
2017
42
Whole-Genome Sequence of the Metastatic PC3 and LNCaP Human Prostate Cancer Cell Lines. ( 28413162 )
2017
43
Inhibitor SBFI26 suppresses the malignant progression of castration-resistant PC3-M cells by competitively binding to oncogenic FABP5. ( 28415688 )
2017
44
Autophagy activated by the c-Jun N-terminal kinase-mediated pathway protects human prostate cancer PC3 cells from celecoxib-induced apoptosis. ( 28565848 )
2017
45
A novel topoisomerase 2a inhibitor, cryptotanshinone, suppresses the growth of PC3 cells without apparent cytotoxicity. ( 28716507 )
2017
46
Evaluation of anticancer activity of Cordia dichotoma leaves against a human prostate carcinoma cell line, PC3. ( 28725626 )
2017
47
Isolation and purification of novel peptides derived from Sepia ink: Effects on apoptosis of prostate cancer cell PC‑3. ( 28731187 )
2017
48
Mechanical Contact Characteristics of PC3 Human Prostate Cancer Cells on Complex-Shaped Silicon Micropillars. ( 28767082 )
2017
49
Inhibition of PC3 human prostate cancer cell proliferation, invasion and migration by eicosapentaenoic acid and docosahexaenoic acid. ( 28781788 )
2017
50
Effect of Achillea wilhelmsii extract on expression of the human telomerase reverse transcriptase mRNA in the PC3 prostate cancer cell line. ( 28811896 )
2017

Variations for Pachyonychia Congenita 3

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

75 (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 22)
# 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.516_518delCAA (p.Asn172del) deletion Pathogenic rs606231214 GRCh38 Chromosome 12, 52492671: 52492673
3 KRT6A NM_005554.3(KRT6A): c.520T> G (p.Phe174Val) single nucleotide variant Pathogenic rs28933087 GRCh37 Chromosome 12, 52886453: 52886453
4 KRT6A NM_005554.3(KRT6A): c.520T> G (p.Phe174Val) single nucleotide variant Pathogenic rs28933087 GRCh38 Chromosome 12, 52492669: 52492669
5 KRT6A NM_005554.3(KRT6A): c.1414G> A (p.Glu472Lys) single nucleotide variant Pathogenic rs60554162 GRCh37 Chromosome 12, 52882122: 52882122
6 KRT6A NM_005554.3(KRT6A): c.1414G> A (p.Glu472Lys) single nucleotide variant Pathogenic rs60554162 GRCh38 Chromosome 12, 52488338: 52488338
7 KRT6A NM_005554.3(KRT6A): c.1406T> G (p.Leu469Arg) single nucleotide variant Pathogenic rs57052654 GRCh37 Chromosome 12, 52882130: 52882130
8 KRT6A NM_005554.3(KRT6A): c.1406T> G (p.Leu469Arg) single nucleotide variant Pathogenic rs57052654 GRCh38 Chromosome 12, 52488346: 52488346
9 KRT6A NM_005554.3(KRT6A): c.1406T> C (p.Leu469Pro) single nucleotide variant Pathogenic rs57052654 GRCh37 Chromosome 12, 52882130: 52882130
10 KRT6A NM_005554.3(KRT6A): c.1406T> C (p.Leu469Pro) single nucleotide variant Pathogenic rs57052654 GRCh38 Chromosome 12, 52488346: 52488346
11 KRT6A NM_005554.3(KRT6A): c.511A> G (p.Asn171Asp) single nucleotide variant Pathogenic rs62635294 GRCh37 Chromosome 12, 52886462: 52886462
12 KRT6A NM_005554.3(KRT6A): c.511A> G (p.Asn171Asp) single nucleotide variant Pathogenic rs62635294 GRCh38 Chromosome 12, 52492678: 52492678
13 KRT6A NM_005554.3(KRT6A): c.511A> T (p.Asn171Tyr) single nucleotide variant Pathogenic rs62635294 GRCh37 Chromosome 12, 52886462: 52886462
14 KRT6A NM_005554.3(KRT6A): c.511A> T (p.Asn171Tyr) single nucleotide variant Pathogenic rs62635294 GRCh38 Chromosome 12, 52492678: 52492678
15 KRT6A NM_005554.3(KRT6A): c.512A> G (p.Asn171Ser) single nucleotide variant Pathogenic rs58556099 GRCh37 Chromosome 12, 52886461: 52886461
16 KRT6A NM_005554.3(KRT6A): c.512A> G (p.Asn171Ser) single nucleotide variant Pathogenic rs58556099 GRCh38 Chromosome 12, 52492677: 52492677
17 KRT6A NM_005554.3(KRT6A): c.513C> A (p.Asn171Lys) single nucleotide variant Pathogenic rs59685571 GRCh37 Chromosome 12, 52886460: 52886460
18 KRT6A NM_005554.3(KRT6A): c.513C> A (p.Asn171Lys) single nucleotide variant Pathogenic rs59685571 GRCh38 Chromosome 12, 52492676: 52492676
19 KRT6A NM_005554.3(KRT6A): c.521T> C (p.Phe174Ser) single nucleotide variant Pathogenic rs61145796 GRCh37 Chromosome 12, 52886452: 52886452
20 KRT6A NM_005554.3(KRT6A): c.521T> C (p.Phe174Ser) single nucleotide variant Pathogenic rs61145796 GRCh38 Chromosome 12, 52492668: 52492668
21 KRT6A NM_005554.3(KRT6A): c.1460-2A> C single nucleotide variant Pathogenic rs113369052 GRCh37 Chromosome 12, 52881741: 52881741
22 KRT6A NM_005554.3(KRT6A): c.1460-2A> C single nucleotide variant Pathogenic rs113369052 GRCh38 Chromosome 12, 52487957: 52487957

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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