PC3
MCID: PCH010
MIFTS: 44

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 56 73 29 6 71
Pc3 56 73
Pachyonychia Congenita, Type 3 39
Pc-3 17

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


Classifications:



Summaries for Pachyonychia Congenita 3

OMIM : 56 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 suppression of tumorigenicity 12. An important gene associated with Pachyonychia Congenita 3 is KRT6A (Keratin 6A). The drugs Remifentanil and Narcotics have been mentioned in the context of this disorder. Affiliated tissues include prostate, bone and breast, and related phenotypes are hyperhidrosis and palmoplantar keratoderma

UniProtKB/Swiss-Prot : 73 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 top 50) (show all 88)
# Related Disease Score Top Affiliating Genes
1 prostate cancer 11.0
2 suppression of tumorigenicity 12 10.4
3 insulin-like growth factor i 10.3
4 bone resorption disease 10.3
5 retinoblastoma 10.3
6 pertussis 10.3
7 insulinoma 10.3
8 familial retinoblastoma 10.3
9 severe combined immunodeficiency 10.3
10 48,xyyy 10.2
11 osteogenic sarcoma 10.2
12 fibrosarcoma 10.2
13 rapidly involuting congenital hemangioma 10.2
14 skin disease 10.2
15 pituitary tumors 10.2
16 hypertriglyceridemia, familial 10.1
17 multicentric carpotarsal osteolysis syndrome 10.1
18 glioblastoma multiforme 10.1
19 breast cancer 10.1
20 prostatic hyperplasia, benign 10.1
21 prostate cancer, hereditary, 3 10.1
22 familial adenomatous polyposis 10.1
23 small cell carcinoma 10.1
24 prostatic hypertrophy 10.1
25 prostatitis 10.1
26 cholera 10.1
27 prostatic adenoma 10.1
28 adenocarcinoma 10.1
29 vaccinia 10.1
30 pituitary adenoma 10.1
31 adenoma 10.1
32 hypoxia 10.1
33 pancreatic cancer 10.0
34 ataxia and polyneuropathy, adult-onset 10.0
35 leukemia, acute lymphoblastic 10.0
36 colorectal adenocarcinoma 10.0
37 bone disease 10.0
38 microcephaly 10.0
39 neutropenia 10.0
40 dysentery 10.0
41 leukemia 10.0
42 urethritis 10.0
43 cystitis 10.0
44 hyperinsulinism 10.0
45 iron metabolism disease 10.0
46 astrocytoma 10.0
47 breast adenocarcinoma 10.0
48 hyperglycemia 10.0
49 t-cell acute lymphoblastic leukemia 10.0
50 neuroblastoma 10.0

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



Diseases related to Pachyonychia Congenita 3

Symptoms & Phenotypes for Pachyonychia Congenita 3

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 gingivitis 31 HP:0000230
4 furrowed tongue 31 HP:0000221
5 oral leukoplakia 31 HP:0002745
6 nail dystrophy 31 HP:0008404
7 plantar hyperkeratosis 31 HP:0007556
8 onychogryposis of toenails 31 HP:0008401
9 epidermoid cyst 31 HP:0200040
10 palmar hyperkeratosis 31 HP:0010765
11 chapped lip 31 HP:0040181

Symptoms via clinical synopsis from OMIM:

56
Skin Nails Hair Skin:
palmoplantar keratoderma
follicular hyperkeratosis
pilosebaceous cysts
steatocystoma

Skin Nails Hair Nails:
pachyonychia

Head And Neck Eyes:
conjunctival hyperkeratosis (rare)

Skeletal Feet:
plantar keratoderma
plantar fissures
plantar pain

Voice:
hoarse voice

Head And Neck Mouth:
fissured tongue
oral leukokeratosis
dry, chapped lips
tongue leukokeratosis

Skeletal Hands:
palmar keratoderma

Clinical features from OMIM:

615726

Drugs & Therapeutics for Pachyonychia Congenita 3

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

(show all 23)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Remifentanil Approved Phase 4 132875-61-7 60815
2 Narcotics Phase 4
3 Analgesics Phase 4
4 Anesthetics Phase 4
5 Analgesics, Opioid Phase 4
6
Epirubicin Approved Phase 3 56420-45-2 41867
7
Paclitaxel Approved, Vet_approved Phase 3 33069-62-4 36314
8
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
9
Carboplatin Approved Phase 3 41575-94-4 10339178 38904 498142
10 Tubulin Modulators Phase 3
11 Antimitotic Agents Phase 3
12 Immunologic Factors Phase 3
13 Albumin-Bound Paclitaxel Phase 3
14 Alkylating Agents Phase 3
15 Immunosuppressive Agents Phase 3
16 Anti-Bacterial Agents Phase 3
17 Antibiotics, Antitubercular Phase 3
18 Antirheumatic Agents Phase 3
19
Gefitinib Approved, Investigational Phase 2 184475-35-2 123631
20
Docetaxel Approved, Investigational Phase 2 114977-28-5 148124
21 Protein Kinase Inhibitors Phase 2
22
Parathyroid hormone Approved, Investigational 9002-64-6
23 Liver Extracts

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effect of Two Plasma Concentrations of Remifentanil Through Target Controlled Anesthesia on Frequency and Intensity of Coughing During Extubation: Randomized Controlled Clinical Trial Completed NCT02711904 Phase 4 Extubation U;Extubation T
2 Randomized Phase Ⅲ Trial Comparing Dose-dense Epirubicin and Cyclophosphamide Followed by Paclitaxel With Paclitaxel Plus Carboplatin as Adjuvant Therapy for Triple-negative Breast Cancer. Unknown status NCT01378533 Phase 3 epirubicin, cyclophosphamide, paclitaxel, carboplatin, G-CSF
3 Phase II Trial of Neoadjuvant Docetaxel and ZD 1839 (Iressa) Followed by Radical Prostatectomy in Patients With High Risk, Locally Advanced Prostate Cancer Completed NCT00242918 Phase 2 docetaxel;ZD1839
4 Effect and Mechanism of Acupuncture on Patients With Functional Dyspepsia: a Protocol for a Randomized, Assessor-blind, Sham-controlled Trial Unknown status NCT02358486
5 Improving Pain Management in Cancer Care Completed NCT00036829
6 Intervention Based on the Use of Patient Feedback Collected for Improving Patient Safety in Spanish Primary Care (PC) Centres Active, not recruiting NCT03837912

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:

40
Prostate, Bone, Breast, Endothelial, Lung, Colon, Tongue

Publications for Pachyonychia Congenita 3

Articles related to Pachyonychia Congenita 3:

(show top 50) (show all 7317)
# Title Authors PMID Year
1
The molecular genetic analysis of the expanding pachyonychia congenita case collection. 56 6
24611874 2014
2
Two novel de novo mutations of KRT6A and KRT16 genes in two Chinese pachyonychia congenita pedigrees with fissured tongue or diffuse plantar keratoderma. 6 56
22668561 2012
3
The genetic basis of pachyonychia congenita. 6 56
16250206 2005
4
Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita. 6 56
11886499 2001
5
Mutation of a type II keratin gene (K6a) in pachyonychia congenita. 56 6
7545493 1995
6
Revisiting pachyonychia congenita: a case-cohort study of 815 patients. 56
31823354 2020
7
Symptomatic mucosal involvement in pachyonychia congenita: challenges in infants and young children. 56
31777952 2020
8
Pachyonychia congenita: a case report of a successful treatment with rosuvastatin in a patient with a KRT6A mutation. 56
30307612 2019
9
Pachyonychia congenita in pediatric patients: natural history, features, and impact. 56
24132595 2014
10
A review of the clinical phenotype of 254 patients with genetically confirmed pachyonychia congenita. 56
22264670 2012
11
Pachyonychia congenita patients with mutations in KRT6A have more extensive disease compared with patients who have mutations in KRT16. 56
22098151 2012
12
The phenotypic and molecular genetic features of pachyonychia congenita. 56
21430705 2011
13
Pachyonychia Congenita 6
20301457 2006
14
A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2. 56
9618173 1998
15
A mutation in the mucosal keratin K4 is associated with oral white sponge nevus. 6
7493030 1995
16
Antitumor properties of certain spirooxindoles towards hepatocellular carcinoma endowed with antioxidant activity. 61
32208781 2020
17
Design, synthesis and in vitro biological evaluation of quinazolinone derivatives as EGFR inhibitors for antitumor treatment. 61
31967481 2020
18
3D porous chitosan-chondroitin sulfate scaffolds promote epithelial to mesenchymal transition in prostate cancer cells. 61
32480094 2020
19
Knockdown of GSG2 inhibits prostate cancer progression in vitro and in vivo. 61
32319597 2020
20
Anti-prostate cancer activity of a nanoformulation of the spleen tyrosine kinase (SYK) inhibitor C61. 61
32044796 2020
21
Epigenetic regulation of the ITGB4 gene in prostate cancer. 61
32376286 2020
22
Nickel and zinc complexes of testosterone N4-substituted thiosemicarbazone: Selective cytotoxicity towards human colorectal carcinoma cell line HCT 116 and their cell death mechanisms. 61
32438269 2020
23
Anticancer and Antibacterial Activities of Silver Nanoparticles (AgNPs) Synthesized from Cucumis melo L. 61
31968432 2020
24
Radiosynthesis, in vitro and preliminary in vivo evaluation of the novel glutamine derived PET tracers [18F]fluorophenylglutamine and [18F]fluorobiphenylglutamine. 61
32447069 2020
25
Synthesis and anticancer activity of open-resorcinarene conjugates. 61
32527536 2020
26
The influence of hypoxia on the prostate cancer proteome. 61
31940282 2020
27
Can ultrasound irradiation be a therapeutic option for prostate cancer? 61
32557725 2020
28
NOL6, a new founding oncogene in human prostate cancer and targeted by miR-590-3p. 61
32249364 2020
29
Selenium-binding protein 1 alters energy metabolism in prostate cancer cells. 61
32511787 2020
30
SPOP Deregulation Improves the Radiation Response of Prostate Cancer Models by Impairing DNA Damage Repair. 61
32512734 2020
31
Unleashing the Diagnostic, Prognostic and Therapeutic Potential of the Neuronostatin/GPR107 System in Prostate Cancer. 61
32498336 2020
32
Biological Synthesis of CdTe Quantum Dots and Their Anti-Proliferative Assessment Against Prostate Cancer Cell Line. 61
31748032 2020
33
Eukaryotic translation initiation factor 3 subunit b is a novel oncogenic factor in prostate cancer. 61
32556998 2020
34
A Multimodal Theranostic Nanoformulation that Dramatically Enhances Docetaxel Efficacy Against Castration Resistant Prostate Cancer. 61
32534879 2020
35
Lipid droplets in prostate cancer cells and effect of irradiation studied by Raman microspectroscopy. 61
32504818 2020
36
Insulin exacerbated high glucose-induced epithelial-mesenchymal transition in prostatic epithelial cells BPH-1 and prostate cancer cells PC-3 via MEK/ERK signaling pathway. 61
32561286 2020
37
Synthesis of bioactive quinazolin-4(3H)-one derivatives via microwave activation tailored by phase-transfer catalysis. 61
31955144 2020
38
Low temperature, easy scaling up method for development of smart nanostructure hybrid lipid capsules for drug delivery application. 61
32169777 2020
39
Radiosynthesis and preclinical evaluation of [18F]FEM as a potential novel PET probe for tumor imaging. 61
32354567 2020
40
A promising therapeutic combination for metastatic prostate cancer: Chloroquine as autophagy inhibitor and palladium(II) barbiturate complex. 61
32497551 2020
41
An Efficient Near-Infrared Emissive Artificial Supramolecular Light-Harvesting System for Imaging in the Golgi Apparatus. 61
32196893 2020
42
Isoenzyme-Selective Inhibitors of Human Neuraminidases Reveal Distinct Effects on Cell Migration. 61
32310634 2020
43
Design, synthesis and biological evaluation of novel 2,4-bismorpholinothieno[3,2-d]pyrimidine and 2-morpholinothieno[3,2-d]pyrimidinone derivatives as potent antitumor agents. 61
32283346 2020
44
Cytotoxic xanthone derivatives from the twigs of Garcinia oligantha. 61
32203742 2020
45
Determination of anticancer properties and inhibitory effects of some metabolic enzymes including acetylcholinesterase, butyrylcholinesterase, alpha-glycosidase of some compounds with molecular docking study. 61
32406329 2020
46
Supercritical fluid assembly of albendazole liposomes targeting gastrin-releasing peptide receptor overexpressing tumors. 61
32484025 2020
47
Evaluation of a New 99mTc-labeled GnRH Analogue as a Possible Imaging Agent for Prostate Cancer Detection. 61
32560611 2020
48
Sorbitol as a Polar Pharmacological Modifier to Enhance the Hydrophilicity of 99mTc-Tricarbonyl-Based Radiopharmaceuticals. 61
32527027 2020
49
Synthesis, distribution analysis and mechanism studies of N-acyl glucosamine-bearing oleanolic saponins. 61
32305695 2020
50
Akt/survivin pathway inhibition enhances the apoptotic cell death-induced by alpha-santalol in human prostate cancer cells. 61
32173422 2020

Variations for Pachyonychia Congenita 3

ClinVar genetic disease variations for Pachyonychia Congenita 3:

6 (show all 12) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KRT6A NM_005554.4(KRT6A):c.1381G>T (p.Glu461Ter)SNV Pathogenic 827961 12:52882155-52882155 12:52488371-52488371
2 KRT6A NM_005554.4(KRT6A):c.510_512CAA[2] (p.Asn172del)short repeat Pathogenic 14634 rs606231214 12:52886455-52886457 12:52492671-52492673
3 KRT6A NM_005554.4(KRT6A):c.520T>G (p.Phe174Val)SNV Pathogenic 14635 rs28933087 12:52886453-52886453 12:52492669-52492669
4 KRT6A NM_005554.4(KRT6A):c.1414G>A (p.Glu472Lys)SNV Pathogenic 14636 rs60554162 12:52882122-52882122 12:52488338-52488338
5 KRT6A NM_005554.4(KRT6A):c.1406T>G (p.Leu469Arg)SNV Pathogenic 14637 rs57052654 12:52882130-52882130 12:52488346-52488346
6 KRT6A NM_005554.4(KRT6A):c.1406T>C (p.Leu469Pro)SNV Pathogenic 66576 rs57052654 12:52882130-52882130 12:52488346-52488346
7 KRT6A NM_005554.4(KRT6A):c.511A>G (p.Asn171Asp)SNV Pathogenic 66585 rs62635294 12:52886462-52886462 12:52492678-52492678
8 KRT6A NM_005554.4(KRT6A):c.511A>T (p.Asn171Tyr)SNV Pathogenic 66586 rs62635294 12:52886462-52886462 12:52492678-52492678
9 KRT6A NM_005554.4(KRT6A):c.512A>G (p.Asn171Ser)SNV Pathogenic 66588 rs58556099 12:52886461-52886461 12:52492677-52492677
10 KRT6A NM_005554.4(KRT6A):c.513C>A (p.Asn171Lys)SNV Pathogenic 66589 rs59685571 12:52886460-52886460 12:52492676-52492676
11 KRT6A NM_005554.4(KRT6A):c.521T>C (p.Phe174Ser)SNV Pathogenic 66591 rs61145796 12:52886452-52886452 12:52492668-52492668
12 KRT6A NM_005554.4(KRT6A):c.1460-2A>CSNV Pathogenic 156022 rs113369052 12:52881741-52881741 12:52487957-52487957

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

73 (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

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

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
Content
Loading form....