PC3
MCID: PCH010
MIFTS: 43

Pachyonychia Congenita 3 (PC3)

Categories: Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Skin diseases, Smell/Taste diseases

Aliases & Classifications for Pachyonychia Congenita 3

MalaCards integrated aliases for Pachyonychia Congenita 3:

Name: Pachyonychia Congenita 3 57 73 29 6 71
Pc3 57 73
Pachyonychia Congenita, Type 3 39
Pc-3 17

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant


HPO:

31
pachyonychia congenita 3:
Inheritance autosomal dominant inheritance


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) (Updated 05-Mar-2021)

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 101)
# Related Disease Score Top Affiliating Genes
1 prostate cancer 10.8
2 suppression of tumorigenicity 12 10.2
3 48,xyyy 10.2
4 insulin-like growth factor i 10.2
5 retinoblastoma 10.2
6 hypoxia 10.2
7 bone resorption disease 10.1
8 pheochromocytoma 10.1
9 pertussis 10.1
10 insulinoma 10.1
11 severe combined immunodeficiency 10.1
12 prostatic hyperplasia, benign 10.1
13 adrenal gland pheochromocytoma 10.1
14 prostatic hypertrophy 10.1
15 prostatic adenoma 10.1
16 osteogenic sarcoma 10.0
17 combined immunodeficiency 10.0
18 glioblastoma 10.0
19 fibrosarcoma 10.0
20 rapidly involuting congenital hemangioma 10.0
21 vaccinia 10.0
22 skin disease 10.0
23 pituitary tumors 10.0
24 hypertriglyceridemia, familial 9.9
25 multicentric carpotarsal osteolysis syndrome 9.9
26 triiodothyronine receptor auxiliary protein 9.9
27 medulloblastoma 9.9
28 prostate cancer, hereditary, 3 9.9
29 familial adenomatous polyposis 9.9
30 small cell carcinoma 9.9
31 prostatitis 9.9
32 cholera 9.9
33 pituitary adenoma 9.9
34 type 2 diabetes mellitus 9.8
35 glioma susceptibility 1 9.8
36 ovarian cancer 9.8
37 lung cancer 9.8
38 wiskott-aldrich syndrome 9.8
39 creatinine clearance quantitative trait locus 9.8
40 leukemia, acute lymphoblastic 9.8
41 colorectal adenocarcinoma 9.8
42 lymphoma 9.8
43 bone disease 9.8
44 microcephaly 9.8
45 neutropenia 9.8
46 dysentery 9.8
47 urethritis 9.8
48 cystitis 9.8
49 hyperinsulinism 9.8
50 iron metabolism disease 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

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®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

Drugs & Therapeutics for Pachyonychia Congenita 3

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

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Remifentanil Approved Phase 4 132875-61-7 60815
2 Narcotics Phase 4
3 Anesthetics Phase 4
4 Analgesics, Opioid Phase 4
5 Analgesics Phase 4
6 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 Effect and Mechanism of Acupuncture on Patients With Functional Dyspepsia: a Protocol for a Randomized, Assessor-blind, Sham-controlled Trial Unknown status NCT02358486

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, Colon, Bone Marrow, Tongue

Publications for Pachyonychia Congenita 3

Articles related to Pachyonychia Congenita 3:

(show top 50) (show all 7550)
# Title Authors PMID Year
1
The molecular genetic analysis of the expanding pachyonychia congenita case collection. 57 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 57
22668561 2012
3
The genetic basis of pachyonychia congenita. 57 6
16250206 2005
4
Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita. 6 57
11886499 2001
5
Mutation of a type II keratin gene (K6a) in pachyonychia congenita. 6 57
7545493 1995
6
Revisiting pachyonychia congenita: a case-cohort study of 815 patients. 57
31823354 2020
7
Symptomatic mucosal involvement in pachyonychia congenita: challenges in infants and young children. 57
31777952 2020
8
Pachyonychia congenita: a case report of a successful treatment with rosuvastatin in a patient with a KRT6A mutation. 57
30307612 2019
9
Pachyonychia congenita in pediatric patients: natural history, features, and impact. 57
24132595 2014
10
A review of the clinical phenotype of 254 patients with genetically confirmed pachyonychia congenita. 57
22264670 2012
11
Pachyonychia congenita patients with mutations in KRT6A have more extensive disease compared with patients who have mutations in KRT16. 57
22098151 2012
12
The phenotypic and molecular genetic features of pachyonychia congenita. 57
21430705 2011
13
A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2. 57
9618173 1998
14
A mutation in the mucosal keratin K4 is associated with oral white sponge nevus. 6
7493030 1995
15
Puerarin induces apoptosis in prostate cancer cells via inactivation of the Keap1/Nrf2/ARE signaling pathway. 61
33356808 2021
16
Simultaneous quantification of the lipids phosphatidylcholine, 3-sn-phosphatidylethanolamine, sphingomyelin, and L-α-lysophosphatidylcholine extracted from the tissues of the invasive golden apple snail (Pomacea canaliculata) using UHPLC-ESI-MS/MS. 61
33131959 2021
17
A Resveratrol-Loaded Poly(2-hydroxyethyl methacrylate)-Chitosan Based Nanotherapeutic: Characterization and In Vitro Cytotoxicity Against Prostate Cancer. 61
33500023 2021
18
Antimicrobial and antitumor activity of S-methyl dithiocarbazate Schiff base zinc(II) complexes. 61
33348167 2021
19
A Density Functional Theory Study of Optical Rotation in some Aziridine and Oxirane derivatives. 61
33528071 2021
20
Ultrasound assisted synthesis and cytotoxicity evaluation of known 2',4'-dihydroxychalcone derivatives against cancer cell lines. 61
33421463 2021
21
A novel series of substituted 1,2,3-triazoles as cancer stem cell inhibitors: Synthesis and biological evaluation. 61
32783257 2021
22
Chondroitin sulfate-hybridized zein nanoparticles for tumor-targeted delivery of docetaxel. 61
33278965 2021
23
Synthesis, Pharmacological Evaluation and Molecular Modelling Studies of Pregnenolone derivatives as Inhibitors of human dihydrofolate reductase. 61
33549543 2021
24
New Polyenes from the Marine-Derived Fungus Talaromyces cyanescens with Anti-Neuroinflammatory and Cytotoxic Activities. 61
33562648 2021
25
Tandem MS-Based Metabolite Profiling of 19,20-Epoxycytochalasin C Reveals the Importance of a Hydroxy Group at the C7 Position for Biological Activity. 61
33585752 2021
26
Diterpenoids from Leaves of Cultivated Plectranthus ornatus. 61
32746472 2021
27
Normalization of metabolic data to total thymine content and its application to determination of 2-hydroxyglutarate. 61
33556332 2021
28
Development and Preclinical Evaluation of 99mTc- and 186Re-Labeled NOTA and NODAGA Bioconjugates Demonstrating Matched Pair Targeting of GRPR-Expressing Tumors. 61
32886303 2021
29
Development of Heterobivalent Theranostic Probes Having High Affinity/Selectivity for the GRPR/PSMA. 61
33534560 2021
30
The botanical component p-hydroxycinnamic acid suppresses the growth and bone metastatic activity of human prostate cancer PC-3 cells in vitro. 61
33001270 2021
31
SLX4IP Promotes Telomere Maintenance in Androgen Receptor-Independent Castration-Resistant Prostate Cancer through ALT-like Telomeric PML Localization. 61
33188147 2021
32
Synthesis of Silica Based Nanoparticles against the Proliferation of Human Prostate Cancer. 61
33557739 2021
33
66Ga-PET-imaging of GRPR-expression in prostate cancer: production and characterization of [66Ga]Ga-NOTA-PEG2-RM26. 61
33574368 2021
34
Verbascoside inhibits the epithelial-mesenchymal transition of prostate cancer cells through high-mobility group box 1/receptor for advanced glycation end-products/TGF-β pathway. 61
33522686 2021
35
Bone-Targeted Calcium Phosphate-Polymer Hybrid Nanoparticle Co-Deliver Zoledronate and Docetaxel to Treat Bone Metastasis of Prostate Cancer. 61
33166581 2021
36
Identification of lipidomic profiles associated with drug-resistant prostate cancer cells. 61
33596934 2021
37
5-HT7 receptors as a new target for prostate cancer physiopathology and treatment: an experimental study on PC-3 cells and FFPE tissues. 61
33528589 2021
38
Design, Synthesis and Biological Evaluation of 1-methyl-1H-pyrazole-5-Carboxamide Derivatives as Novel Anti-Prostate Cancer Agents. 61
33530916 2021
39
Delineating role of NF-κB and interacting cytokines during prostate cancer-induced osteoclastogenesis. 61
33053226 2021
40
A styrylpyrone dimer isolated from Aniba heringeri causes apoptosis in MDA-MB-231 triple-negative breast cancer cells. 61
33477019 2021
41
Cytotoxic Physalins from Aeroponically Grown Physalis acutifolia. 61
33586438 2021
42
Cashew apple (Anacardium occidentale L.) extract from a by-product of juice processing: assessment of its toxicity, antiproliferative and antimicrobial activities. 61
33568870 2021
43
Discovery of novel indole derivatives that inhibit NEDDylation and MAPK pathways against gastric cancer MGC803 cells. 61
33476867 2021
44
Regulation of anti-tumorigenic pathways by the combinatory treatment of calcitriol and TGF-β in PC-3 and DU145 cells. 61
33582304 2021
45
Diagnosis of Dry Eye Disease Using Principal Component Analysis: A Study in Animal Models of the Disease. 61
33445973 2021
46
Assessment of exopolysaccharides, bacteriocins and in vitro and in vivo hypocholesterolemic potential of some Egyptian Lactobacillus spp. 61
33482208 2021
47
Octadecyl chain-bearing PEGylated poly(propyleneimine)-based dendrimersomes: physicochemical studies, redox-responsiveness, DNA condensation, cytotoxicity and gene delivery to cancer cells. 61
33404026 2021
48
Two new physalin derivatives from Physalis alkekengi L. var. franchetii (Mast.) Makino. 61
31140313 2021
49
PhenQE8, a Novel Ligand of the Human Telomeric Quadruplex. 61
33451070 2021
50
Rational design, engineer, and characterization of a novel pegylated single isomer human arginase for arginine depriving anti-cancer treatment. 61
33129876 2021

Variations for Pachyonychia Congenita 3

ClinVar genetic disease variations for Pachyonychia Congenita 3:

6 (show all 13)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KRT6A NM_005554.4(KRT6A):c.520T>G (p.Phe174Val) SNV Pathogenic 14635 rs28933087 12:52886453-52886453 12:52492669-52492669
2 KRT6A NM_005554.4(KRT6A):c.1414G>A (p.Glu472Lys) SNV Pathogenic 14636 rs60554162 12:52882122-52882122 12:52488338-52488338
3 KRT6A NM_005554.4(KRT6A):c.1406T>G (p.Leu469Arg) SNV Pathogenic 14637 rs57052654 12:52882130-52882130 12:52488346-52488346
4 KRT6A NM_005554.4(KRT6A):c.1406T>C (p.Leu469Pro) SNV Pathogenic 66576 rs57052654 12:52882130-52882130 12:52488346-52488346
5 KRT6A NM_005554.4(KRT6A):c.521T>C (p.Phe174Ser) SNV Pathogenic 66591 rs61145796 12:52886452-52886452 12:52492668-52492668
6 KRT6A NM_005554.4(KRT6A):c.1460-2A>C SNV Pathogenic 156022 rs113369052 12:52881741-52881741 12:52487957-52487957
7 KRT6A NM_005554.4(KRT6A):c.1381G>T (p.Glu461Ter) SNV Pathogenic 827961 rs267607468 12:52882155-52882155 12:52488371-52488371
8 KRT6A NM_005554.4(KRT6A):c.510_512CAA[2] (p.Asn172del) Microsatellite Pathogenic 14634 rs606231214 12:52886455-52886457 12:52492671-52492673
9 KRT6A NM_005554.4(KRT6A):c.511A>G (p.Asn171Asp) SNV Pathogenic 66585 rs62635294 12:52886462-52886462 12:52492678-52492678
10 KRT6A NM_005554.4(KRT6A):c.511A>T (p.Asn171Tyr) SNV Pathogenic 66586 rs62635294 12:52886462-52886462 12:52492678-52492678
11 KRT6A NM_005554.4(KRT6A):c.512A>G (p.Asn171Ser) SNV Pathogenic 66588 rs58556099 12:52886461-52886461 12:52492677-52492677
12 KRT6A NM_005554.4(KRT6A):c.513C>A (p.Asn171Lys) SNV Pathogenic 66589 rs59685571 12:52886460-52886460 12:52492676-52492676
13 KRT6A NM_005554.4(KRT6A):c.1078-10T>C SNV Uncertain significance 930292 12:52883862-52883862 12:52490078-52490078

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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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