PC4
MCID: PCH011
MIFTS: 27

Pachyonychia Congenita 4 (PC4)

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

Aliases & Classifications for Pachyonychia Congenita 4

MalaCards integrated aliases for Pachyonychia Congenita 4:

Name: Pachyonychia Congenita 4 57 75 29 6 73
Pc4 57 75
Pachyonychia Congenita, Type 4 40

Characteristics:

HPO:

32
pachyonychia congenita 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 615728
MeSH 44 D053549
UMLS 73 C3714949

Summaries for Pachyonychia Congenita 4

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. (615728)

MalaCards based summary : Pachyonychia Congenita 4, also known as pc4, is related to lung cancer and stomatitis. An important gene associated with Pachyonychia Congenita 4 is KRT6B (Keratin 6B). The drugs Pancrelipase and Gemcitabine have been mentioned in the context of this disorder. Affiliated tissues include skin, lung and testis, and related phenotypes are palmoplantar keratoderma and nail dystrophy

UniProtKB/Swiss-Prot : 75 Pachyonychia congenita 4: 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 4

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 4 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 lung cancer 10.1
2 stomatitis 10.1
3 small cell cancer of the lung 10.0
4 lung cancer susceptibility 3 10.0
5 sclerosing cholangitis, neonatal 10.0
6 melanoma 10.0
7 adenocarcinoma 10.0
8 astrocytoma 10.0

Graphical network of the top 20 diseases related to Pachyonychia Congenita 4:



Diseases related to Pachyonychia Congenita 4

Symptoms & Phenotypes for Pachyonychia Congenita 4

Clinical features from OMIM:

615728

Human phenotypes related to Pachyonychia Congenita 4:

32
# Description HPO Frequency HPO Source Accession
1 palmoplantar keratoderma 32 HP:0000982
2 nail dystrophy 32 HP:0008404
3 steatocystoma multiplex 32 HP:0012035

Drugs & Therapeutics for Pachyonychia Congenita 4

Drugs for Pachyonychia Congenita 4 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 35)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pancrelipase Approved, Investigational Phase 3 53608-75-6
2
Gemcitabine Approved Phase 3 95058-81-4 60750
3 Immunosuppressive Agents Phase 3,Phase 1
4 Gastrins Phase 3
5 Antimetabolites, Antineoplastic Phase 3
6 Anti-Infective Agents Phase 3,Phase 1
7 Antimetabolites Phase 3
8 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
9 Immunologic Factors Phase 3
10 Antiviral Agents Phase 3,Phase 1
11 Hormones Phase 3
12 pancreatin Phase 3
13 Hormone Antagonists Phase 3
14
Ethanol Approved Phase 2 64-17-5 702
15 Analgesics Phase 2
16
Silicon Approved, Investigational Phase 1 7440-21-3 4082203
17
Norepinephrine Approved Phase 1 51-41-2 439260
18 Photosensitizing Agents Phase 1
19 Micronutrients Phase 1
20 Silicon phthalocyanine Phase 1
21 Dermatologic Agents Phase 1
22 Antiprotozoal Agents Phase 1
23 Trace Elements Phase 1
24 Antiparasitic Agents Phase 1
25 Antimalarials Phase 1
26 Pharmaceutical Solutions Phase 1
27 Sympathomimetics Phase 1
28 Vasoconstrictor Agents Phase 1
29 Adrenergic Agonists Phase 1
30 Adrenergic Agents Phase 1
31 Adrenergic alpha-Agonists Phase 1
32 Peripheral Nervous System Agents Phase 1
33 Autonomic Agents Phase 1
34 Neurotransmitter Agents Phase 1
35 Anesthetics Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Safety and Efficacy of G17DT Immunogen Combined With Gemcitabine vs. Gemcitabine in the Treatment of Advanced Pancreatic Carcinoma Completed NCT00044031 Phase 3
2 Retarded Phosphatidylcholine Versus Mesalazin in Remission of Ulcerative Colitis. Withdrawn NCT00259571 Phase 2, Phase 3 retarded release phosphatidylcholine
3 Acupuncture for Whiplash Associated Disorder Completed NCT01395511 Phase 2
4 Photodynamic Therapy Using Silicon Phthalocyanine 4 in Treating Patients With Actinic Keratosis, Bowen's Disease, Skin Cancer, or Stage I or Stage II Mycosis Fungoides Completed NCT00103246 Phase 1 silicon phthalocyanine 4
5 Silicon Phthalocyanine 4 and Photodynamic Therapy in Stage IA-IIA Cutaneous T-Cell Non-Hodgkin Lymphoma Completed NCT01800838 Phase 1 silicon phthalocyanine 4;photodynamic therapy
6 Photodynamic Therapy in Treating Patients With Skin Cancer or Solid Tumors Metastatic to the Skin Terminated NCT00023790 Phase 1 silicon phthalocyanine 4
7 Exploratory Study of Norepinephrine to Prevent Radiodermatitis in Breast Cancer Patients Terminated NCT01263366 Phase 1 Norepinephrine
8 Electro-acupuncture (EA) in Children Undergoing Procedures for Congenital Heart Defects. Recruiting NCT03297658 Not Applicable
9 Effects of Transcutaneous Acupoint Electrical Stimulation on Postoperative HRV and Hs-cTnT of Elderly With CHD Recruiting NCT03418194 Not Applicable
10 PC4PrEP: Integrating PrEP Into Primary Care Not yet recruiting NCT03617874 Not Applicable

Search NIH Clinical Center for Pachyonychia Congenita 4

Genetic Tests for Pachyonychia Congenita 4

Genetic tests related to Pachyonychia Congenita 4:

# Genetic test Affiliating Genes
1 Pachyonychia Congenita 4 29 KRT6B

Anatomical Context for Pachyonychia Congenita 4

MalaCards organs/tissues related to Pachyonychia Congenita 4:

41
Skin, Lung, Testis

Publications for Pachyonychia Congenita 4

Articles related to Pachyonychia Congenita 4:

(show all 47)
# Title Authors Year
1
Inhibition of PC4 radiosensitizes non-small cell lung cancer by transcriptionally suppressing XLF. ( 29522271 )
2018
2
Dianionic Titanyl and Vanadyl (Cation+ )2 [MIV O(Pc4- )]2- Phthalocyanine Salts Containing Pc4- Macrocycles. ( 29771008 )
2018
3
Positive cofactor 4 (PC4) contributes to the regulation of replication-dependent canonical histone gene expression. ( 30053800 )
2018
4
The Redox-Active Chromium Phthalocyanine System: Isolation of Five Oxidation States from Pc4- CrI to Pc2- CrIII. ( 27753161 )
2017
5
Sub1/PC4, a multifaceted factor: from transcription to genome stability. ( 28567479 )
2017
6
Data integrity of the Pediatric Cardiac Critical Care Consortium (PC4) clinical registry. ( 26358157 )
2016
7
Structural analysis and knock-out of a Burkholderia pseudomallei homolog of the eukaryotic transcription coactivator PC4. ( 26625975 )
2016
8
Positive Cofactor 4 (PC4) is critical for DNA repair pathway re-routing in DT40 cells. ( 27374870 )
2016
9
Transcriptional Coactivator and Chromatin Protein PC4 Is Involved in Hippocampal Neurogenesis and Spatial Memory Extinction. ( 27471272 )
2016
10
Collaborative quality improvement in the cardiac intensive care unit: development of the Paediatric Cardiac Critical Care Consortium (PC4). ( 25167212 )
2015
11
Substitution of tryptophan 89 with tyrosine switches the DNA binding mode of PC4. ( 25739870 )
2015
12
Enediynyl peptides and iso-coumarinyl methyl sulfones as inhibitors of proprotein convertases PCSK8/SKI-1/S1P and PCSK4/PC4: Design, synthesis and biological evaluations. ( 25881830 )
2015
13
PC4 induces lymphangiogenesis dependent VEGF-C/VEGF-D/VEGFR-3 axis activation in lung adenocarcinoma. ( 26269750 )
2015
14
Perioperative feeding management of neonates with CHD: analysis of the Pediatric Cardiac Critical Care Consortium (PC4) registry. ( 26675610 )
2015
15
Draft Genome Sequence of Enterococcus faecium PC4.1, a Clade B Strain Isolated from Human Feces. ( 24503986 )
2014
16
Mass spectrometric proteomics reveals that nuclear protein positive cofactor PC4 selectively binds to cross-linked DNA by a trans-platinum anticancer complex. ( 24524683 )
2014
17
A transmembrane domain determines the localization of rice stripe virus pc4 to plasmodesmata and is essential for its function as a movement protein. ( 24560843 )
2014
18
Effect of electro-acupuncture stimulation of Ximen (PC4) and Neiguan (PC6) on remifentanil-induced breakthrough pain following thoracal esophagectomy. ( 25135729 )
2014
19
Ceramide synthase inhibitor fumonisin B1 inhibits apoptotic cell death in SCC17B human head and neck squamous carcinoma cells after Pc4 photosensitization. ( 25266739 )
2014
20
Bacteriophage T5 encodes a homolog of the eukaryotic transcription coactivator PC4 implicated in recombination-dependent DNA replication. ( 24029071 )
2013
21
The Rice stripe virus pc4 functions in movement and foliar necrosis expression in Nicotiana benthamiana. ( 22305130 )
2012
22
In vitro regulatory effect of epididymal serpin CRES on protease activity of proprotein convertase PC4/PCSK4. ( 22827436 )
2012
23
Sub1/PC4 a chromatin associated protein with multiple functions in transcription. ( 20305379 )
2010
24
Pc4, a putative movement protein of Rice stripe virus, interacts with a type I DnaJ protein and a small Hsp of rice. ( 19130198 )
2009
25
Recombinant proprotein convertase 4 (PC4) from Leishmania tarentolae expression system: purification, biochemical study and inhibitor design. ( 18485734 )
2008
26
p53 regulates its own activator: transcriptional co-activator PC4, a new p53-responsive gene. ( 17555406 )
2007
27
The transcriptional coactivator PC4/Sub1 has multiple functions in RNA polymerase II transcription. ( 15692559 )
2005
28
Involvement of general transcriptional coactivator PC4 in the transcription of medaka fish intestine-specific membrane guanylyl cyclase gene (OlGC6). ( 15858175 )
2005
29
Redox-mediated upregulation of hepatocyte iNOS transcription requires coactivator PC4. ( 16003322 )
2005
30
Patterns of prescription of PC4 by general practitioners in England and Wales. ( 11245551 )
2000
31
Identification of the single-stranded DNA binding surface of the transcriptional coactivator PC4 by NMR. ( 9920920 )
1999
32
Inhibition of various steps in the replication cycle of vesicular stomatitis virus contributes to its photoinactivation by AlPcS4 or Pc4 and red light. ( 10089828 )
1999
33
Plasma pharmacokinetics and tissue distribution in CD2F1 mice of Pc4 (NSC 676418), a silicone phthalocyanine photodynamic sensitizing agent. ( 10447575 )
1999
34
Differential expression of osteopontin, PC4, and CEC5, a novel mRNA species, during in vitro angiogenesis. ( 9511718 )
1998
35
High-affinity DNA binding by the C-terminal domain of the transcriptional coactivator PC4 requires simultaneous interaction with two opposing unpaired strands and results in helix destabilization. ( 9512709 )
1998
36
Properties of PC4 and an RNA polymerase II complex in directing activated and basal transcription in vitro. ( 9575207 )
1998
37
Involvement of nitric oxide during phthalocyanine (Pc4) photodynamic therapy-mediated apoptosis. ( 9581812 )
1998
38
Regulation of PC4/TIS7 expression in adapting remnant intestine after resection. ( 9724262 )
1998
39
Primary targets for photoinactivation of vesicular stomatitis virus by AIPcS4 or Pc4 and red light. ( 9077133 )
1997
40
Impaired fertility in mice deficient for the testicular germ-cell protease PC4. ( 9192653 )
1997
41
A yeast transcriptional stimulatory protein similar to human PC4. ( 8702984 )
1996
42
Expression of the PC4 gene in the developing rat nervous system. ( 8919308 )
1996
43
Purification, cloning, and characterization of a human coactivator, PC4, that mediates transcriptional activation of class II genes. ( 8062391 )
1994
44
Synthesis, degradation, and subcellular localization of proteins encoded by the primary response genes TIS7/PC4 and TIS21/PC3. ( 8263025 )
1994
45
Localization of Kex2-like processing endoproteases, furin and PC4, within mouse testis by in situ hybridization. ( 8422932 )
1993
46
Testicular expression of PC4 in the rat: molecular diversity of a novel germ cell-specific Kex2/subtilisin-like proprotein convertase. ( 1448111 )
1992
47
Postcoital contraception with PC4. ( 4075975 )
1985

Variations for Pachyonychia Congenita 4

UniProtKB/Swiss-Prot genetic disease variations for Pachyonychia Congenita 4:

75
# Symbol AA change Variation ID SNP ID
1 KRT6B p.Glu472Lys VAR_023062 rs60627726

ClinVar genetic disease variations for Pachyonychia Congenita 4:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KRT6B NM_005555.3(KRT6B): c.1414G> A (p.Glu472Lys) single nucleotide variant Pathogenic rs60627726 GRCh37 Chromosome 12, 52841572: 52841572
2 KRT6B NM_005555.3(KRT6B): c.1414G> A (p.Glu472Lys) single nucleotide variant Pathogenic rs60627726 GRCh38 Chromosome 12, 52447788: 52447788

Expression for Pachyonychia Congenita 4

Search GEO for disease gene expression data for Pachyonychia Congenita 4.

Pathways for Pachyonychia Congenita 4

GO Terms for Pachyonychia Congenita 4

Sources for Pachyonychia Congenita 4

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74 UMLS via Orphanet
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