MCID: PCH011
MIFTS: 30

Pachyonychia Congenita 4

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

Aliases & Classifications for Pachyonychia Congenita 4

MalaCards integrated aliases for Pachyonychia Congenita 4:

Name: Pachyonychia Congenita 4 53 71 28 69
Pc4 53 71

Characteristics:

HPO:

31
pachyonychia congenita 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 615728
MeSH 41 D053549
UMLS 69 C3714949

Summaries for Pachyonychia Congenita 4

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. (615728)

MalaCards based summary : Pachyonychia Congenita 4, also known as pc4, is related to lung cancer and astrocytoma, and has symptoms including palmoplantar keratoderma, nail dystrophy and steatocystoma multiplex. An important gene associated with Pachyonychia Congenita 4 is KRT6B (Keratin 6B). The drugs Gemcitabine and Pancrelipase have been mentioned in the context of this disorder. Affiliated tissues include skin, t cells and breast.

UniProtKB/Swiss-Prot : 71 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 9.9
2 astrocytoma 9.9

Symptoms & Phenotypes for Pachyonychia Congenita 4

Clinical features from OMIM:

615728

Human phenotypes related to Pachyonychia Congenita 4:

31
# Description HPO Frequency HPO Source Accession
1 palmoplantar keratoderma 31 HP:0000982
2 nail dystrophy 31 HP:0008404
3 steatocystoma multiplex 31 HP:0012035

Drugs & Therapeutics for Pachyonychia Congenita 4

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

(show all 33)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Gemcitabine Approved Phase 3 95058-81-4 60750
2
Pancrelipase Approved, Investigational Phase 3 53608-75-6
3 pancreatin Phase 3
4 Gastrins Phase 3
5 Hormone Antagonists Phase 3
6 Hormones Phase 3
7 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
8 Anti-Infective Agents Phase 3,Phase 1
9 Immunosuppressive Agents Phase 3,Phase 1
10 Antimetabolites Phase 3
11 Antimetabolites, Antineoplastic Phase 3
12 Antiviral Agents Phase 3,Phase 1
13
Ethanol Approved Phase 2 64-17-5 702
14 Analgesics Phase 2
15
Silicon Approved, Investigational Phase 1 7440-21-3 4082203
16
Norepinephrine Approved Phase 1 51-41-2 439260
17 Silicon phthalocyanine Phase 1
18 Micronutrients Phase 1
19 Trace Elements Phase 1
20 Dermatologic Agents Phase 1
21 Photosensitizing Agents Phase 1
22 Antimalarials Phase 1
23 Antiprotozoal Agents Phase 1
24 Antiparasitic Agents Phase 1
25 Adrenergic Agents Phase 1
26 Adrenergic Agonists Phase 1
27 Adrenergic alpha-Agonists Phase 1
28 Neurotransmitter Agents Phase 1
29 Vasoconstrictor Agents Phase 1
30 Peripheral Nervous System Agents Phase 1
31 Pharmaceutical Solutions Phase 1
32 Autonomic Agents Phase 1
33 Anesthetics

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
9 Effects of Transcutaneous Acupoint Electrical Stimulation on Postoperative HRV and Hs-cTnT of Elderly With CHD Recruiting NCT03418194

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 28 KRT6B

Anatomical Context for Pachyonychia Congenita 4

MalaCards organs/tissues related to Pachyonychia Congenita 4:

38
Skin, T Cells, Breast, Heart

Publications for Pachyonychia Congenita 4

Articles related to Pachyonychia Congenita 4:

(show all 48)
# Title Authors Year
1
Yeast Sub1 and human PC4 are G-quadruplex binding proteins that suppress genome instability at co-transcriptionally formed G4 DNA. ( 28369605 )
2017
2
Multifunctional human transcriptional coactivator protein PC4 is a substrate of Aurora kinases and activates the Aurora enzymes. ( 26777301 )
2016
3
PC4 promotes genome stability and DNA repair through binding of ssDNA at DNA damage sites. ( 25961912 )
2016
4
Yeast transcription co-activator Sub1 and its human homolog PC4 preferentially bind to G-quadruplex DNA. ( 25813861 )
2015
5
Cooperation between SMYD3 and PC4 drives a distinct transcriptional program in cancer cells. ( 26350217 )
2015
6
Transcription cofactor PC4 plays essential roles in collaboration with the small subunit of general transcription factor TFIIE. ( 25308091 )
2014
7
Human positive coactivator 4 (PC4) is involved in the progression and prognosis of astrocytoma. ( 25262015 )
2014
8
Coactivator function of positive cofactor 4 (PC4) in Sp1-directed luteinizing hormone receptor (LHR) gene transcription. ( 21193408 )
2011
9
Interaction between the transactivation domain of p53 and PC4 exemplifies acidic activation domains as single-stranded DNA mimics. ( 19525231 )
2009
10
Human transcriptional coactivator PC4 stimulates DNA end joining and activates DSB repair activity. ( 19038270 )
2009
11
Recruitment of RNA polymerase II cofactor PC4 to DNA damage sites. ( 19047459 )
2008
12
Characterization of the PC4 binding domain and its interactions with HNF4alpha. ( 17317687 )
2007
13
Activation of p53 function by human transcriptional coactivator PC4: role of protein-protein interaction, DNA bending, and posttranslational modifications. ( 17785449 )
2007
14
Gradual phosphorylation regulates PC4 coactivator function. ( 16689930 )
2006
15
Transcriptional coactivator PC4, a chromatin-associated protein, induces chromatin condensation. ( 16982701 )
2006
16
The intrinsically unstructured domain of PC4 modulates the activity of the structured core through inter- and intramolecular interactions. ( 16605275 )
2006
17
Functional characterization of core promoter elements: DPE-specific transcription requires the protein kinase CK2 and the PC4 coactivator. ( 15893730 )
2005
18
PC4 coactivates MyoD by relieving the histone deacetylase 4-mediated inhibition of myocyte enhancer factor 2C. ( 15743821 )
2005
19
General transcriptional coactivator PC4 activates p53 function. ( 14966284 )
2004
20
The single-strand DNA binding activity of human PC4 prevents mutagenesis and killing by oxidative DNA damage. ( 15199162 )
2004
21
Transcriptional coactivator PC4 stimulates promoter escape and facilitates transcriptional synergy by GAL4-VP16. ( 15226451 )
2004
22
Temporal and spatial gene expression patterns after experimental stroke in a rat model and characterization of PC4, a potential regulator of transcription. ( 12691737 )
2003
23
Functional characterization of the interacting domains of the positive coactivator PC4 with the transcription factor AP-2alpha. ( 14597399 )
2003
24
The testicular germ-cell protease PC4 is also expressed in macrophage-like cells of the ovary. ( 11164898 )
2001
25
p300-mediated acetylation of human transcriptional coactivator PC4 is inhibited by phosphorylation. ( 11279157 )
2001
26
Evolutionarily conserved interaction between CstF-64 and PC4 links transcription, polyadenylation, and termination. ( 11389848 )
2001
27
Prohormone convertase PC4 processes the precursor of PACAP in the testis. ( 11193847 )
2000
28
Functional interaction between the HIV transactivator Tat and the transcriptional coactivator PC4 in T cells. ( 10887206 )
2000
29
Human PC4 is a substrate-specific inhibitor of RNA polymerase II phosphorylation. ( 10692395 )
2000
30
Enzymic characterization in vitro of recombinant proprotein convertase PC4. ( 10493908 )
1999
31
Coactivator PC4 mediates AP-2 transcriptional activity and suppresses ras-induced transformation dependent on AP-2 transcriptional interference. ( 9858613 )
1999
32
The adeno-associated virus type 2 regulatory proteins rep78 and rep68 interact with the transcriptional coactivator PC4. ( 9847329 )
1999
33
A dynamic model for PC4 coactivator function in RNA polymerase II transcription. ( 9482861 )
1998
34
DNA topoisomerase I and PC4 can interact with human TFIIIC to promote both accurate termination and transcription reinitiation by RNA polymerase III. ( 9660958 )
1998
35
Interaction of PC4 with melted DNA inhibits transcription. ( 9724646 )
1998
36
Testis-specific prohormone convertase PC4 processes the precursor of pituitary adenylate cyclase-activating polypeptide (PACAP). ( 9493858 )
1998
37
TAFII-independent activation mediated by human TBP in the presence of the positive cofactor PC4. ( 9687514 )
1998
38
Cloning of the human interferon-related developmental regulator (IFRD1) gene coding for the PC4 protein, a member of a novel family of developmentally regulated genes. ( 9722946 )
1998
39
The human homolog of the rodent immediate early response genes, PC4 and TIS7, resides in the lung cancer tumor suppressor gene region on chromosome 3p21. ( 9050919 )
1997
40
C-terminal domain of transcription cofactor PC4 reveals dimeric ssDNA binding site. ( 9360603 )
1997
41
Yeast SUB1 is a suppressor of TFIIB mutations and has homology to the human co-activator PC4. ( 8617240 )
1996
42
The coactivator p15 (PC4) initiates transcriptional activation during TFIIA-TFIID-promoter complex formation. ( 7628453 )
1995
43
Chromosomal assignment of the genes for proprotein convertases PC4, PC5, and PACE 4 in mouse and human. ( 7782070 )
1995
44
Amyloid precursor protein is not processed by furin, PACE 4, PC1/3, PC2, PC4 and PC5/6 of the furin family of proprotein processing enzymes. ( 7819286 )
1995
45
Inhibition of differentiation in myoblasts deprived of the interferon-related protein PC4. ( 7756174 )
1995
46
Nerve growth factor regulates the subcellular localization of the nerve growth factor-inducible protein PC4 in PC12 cells. ( 8028043 )
1994
47
Phosphorylation negatively regulates the function of coactivator PC4. ( 7809103 )
1994
48
Purification, cloning, and characterization of a human coactivator, PC4, that mediates transcriptional activation of class II genes. ( 8062391 )
1994

Variations for Pachyonychia Congenita 4

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

71
# 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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
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29 HGMD
30 HMDB
31 HPO
32 ICD10
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35 IUPHAR
36 KEGG
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41 MeSH
42 MESH via Orphanet
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50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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