Details of Disease

Disease Name

Pachyonychia congenita 3

PC3; pachyonychia congenita type 3; pachyonychia congenita caused by mutation in KRT6A; pachyonychia congenita 3; KRT6A pachyonychia congenita

Definition

Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT6A gene.

Disease Hierarchy

DISW8VPN: Pachyonychia congenita

DISZLC6C: Pachyonychia congenita 3

Disease Identifiers

MONDO ID

MONDO_0014324

UMLS CUI

C3714948

OMIM ID

615726

MedGen ID

811523

General Information of Disease (ID: DISZLC6C)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 15 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ACO2	TTMTF2P	Limited	Altered Expression	[1]
KLK2	TTJLNAW	Limited	Biomarker	[2]
KRT6A	TT2FX8W	Limited	Genetic Variation	[3]
NPEPPS	TT371QC	Limited	Biomarker	[4]
PPP5C	TTTW7FJ	Limited	Biomarker	[5]
PPT1	TTSQC14	Limited	Biomarker	[5]
RTN4R	TTVRZUO	Limited	Biomarker	[6]
SULF2	TTLQTHB	Limited	Biomarker	[7]
TEP1	TTQGAVX	Limited	Biomarker	[8]
CA1	TTHQPL7	Strong	Biomarker	[9]
CRTC2	TTFWETR	Strong	Altered Expression	[10]
FOLH1	TT9G4N0	Strong	Biomarker	[11]
GRPR	TTC1MVT	Strong	Biomarker	[11]
KRT6A	TT2FX8W	Strong	Autosomal dominant	[12]
RORC	TTGV6LY	Strong	Biomarker	[10]
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⏷ Show the Full List of 15 DTT(s)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC39A9	DTJH79E	Limited	Altered Expression	[13]
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This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
DHRS7	DEEXSKI	Limited	Altered Expression	[14]
PSAT1	DEBS17P	Limited	Biomarker	[4]
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This Disease Is Related to 30 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ALOX15B	OTWQQ08W	Limited	Altered Expression	[15]
BLID	OT479VJV	Limited	Biomarker	[16]
BTG2	OTZF6K1H	Limited	Altered Expression	[17]
CASP8AP2	OTTWT68S	Limited	Biomarker	[18]
CCL26	OT2B7HR9	Limited	Altered Expression	[19]
DMP1	OTBWBWW7	Limited	Altered Expression	[20]
DPT	OTINRFC7	Limited	Biomarker	[21]
NPRL2	OTOB10MO	Limited	Biomarker	[22]
PLAG1	OTT9AJQY	Limited	Biomarker	[4]
PNN	OT0HXICH	Limited	Biomarker	[23]
PROS1	OTXQWNOI	Limited	Biomarker	[4]
REXO1	OTZT6RAW	Limited	Altered Expression	[24]
RRM2B	OTE8GBUR	Limited	Biomarker	[25]
SMPD3	OTHQBETH	Limited	Altered Expression	[20]
SRPX	OT5B9LXS	Limited	Biomarker	[23]
THOC1	OTVABJ4Z	Limited	Altered Expression	[26]
TNFAIP8	OT1G9297	Disputed	Altered Expression	[27]
B3GNT2	OTE69HV8	Strong	Altered Expression	[28]
CCT4	OT5D452X	Strong	Biomarker	[29]
EFEMP2	OT0I2B4J	Strong	Altered Expression	[30]
GPC1	OTQKRSSV	Strong	Biomarker	[31]
GRP	OT8JDFNI	Strong	Biomarker	[32]
HIVEP1	OT7CAG4A	Strong	Altered Expression	[30]
INSL3	OT7KUNTE	Strong	Altered Expression	[33]
KRT6A	OT392M5T	Strong	Autosomal dominant	[12]
OSCP1	OTZ4IFGJ	Strong	Biomarker	[34]
PRG2	OT0BCPQG	Strong	Altered Expression	[30]
RIPOR2	OTXB6LIR	Strong	Altered Expression	[35]
SKI	OT4KJ8F6	Strong	Genetic Variation	[36]
TFIP11	OT7NVSWU	Strong	Biomarker	[37]
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⏷ Show the Full List of 30 DOT(s)

References

1	Cholesterol modulation of the expression of mitochondrial aconitase in human prostatic carcinoma cells.Chin J Physiol. 2005 Jun 30;48(2):93-100.
2	Secretion of endogenous kallikreins 2 and 3 by androgen receptor-transfected PC-3 prostate cancer cells.J Steroid Biochem Mol Biol. 2003 Apr;84(5):493-502. doi: 10.1016/s0960-0760(03)00069-4.
3	Two novel de novo mutations of KRT6A and KRT16 genes in two Chinese pachyonychia congenita pedigrees with fissured tongue or diffuse plantar keratoderma.Eur J Dermatol. 2012 Jul-Aug;22(4):476-80. doi: 10.1684/ejd.2012.1773.
4	Expression of PSA-RP2, an alternatively spliced variant from the PSA gene, is increased in prostate cancer tissues but the protein is not secreted from prostate cancer cells.Biol Chem. 2010 Apr;391(4):461-6. doi: 10.1515/BC.2010.043.
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8	p53 and PTEN/MMAC1/TEP1 gene therapy of human prostate PC-3 carcinoma xenograft, using transferrin-facilitated lipofection gene delivery strategy.Hum Gene Ther. 2002 Apr 10;13(6):761-73. doi: 10.1089/104303402317322311.
9	Silencing of carbonic anhydrase I enhances the malignant potential of exosomes secreted by prostatic tumour cells.J Cell Mol Med. 2019 May;23(5):3641-3655. doi: 10.1111/jcmm.14265. Epub 2019 Mar 27.
10	TOR complex 2 is needed for cell cycle progression and anchorage-independent growth of MCF7 and PC3 tumor cells.BMC Cancer. 2008 Oct 3;8:282. doi: 10.1186/1471-2407-8-282.
11	Synthesis and preclinical evaluation of the 177Lu-DOTA-PSMA(inhibitor)-Lys3-bombesin heterodimer designed as a radiotheranostic probe for prostate cancer.Nucl Med Commun. 2019 Mar;40(3):278-286. doi: 10.1097/MNM.0000000000000966.
12	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
13	Identification and characterization of membrane androgen receptors in the ZIP9 zinc transporter subfamily: II. Role of human ZIP9 in testosterone-induced prostate and breast cancer cell apoptosis.Endocrinology. 2014 Nov;155(11):4250-65. doi: 10.1210/en.2014-1201. Epub 2014 Jul 11.
14	A role for the dehydrogenase DHRS7 (SDR34C1) in prostate cancer.Cancer Med. 2015 Nov;4(11):1717-29. doi: 10.1002/cam4.517. Epub 2015 Aug 26.
15	15-Lipoxygenase-2 gene regulation by its product 15-(S)-hydroxyeicosatetraenoic acid through a negative feedback mechanism that involves peroxisome proliferator-activated receptor gamma.Oncogene. 2006 Sep 28;25(44):6015-25. doi: 10.1038/sj.onc.1209617. Epub 2006 May 8.
16	BRCC2, a novel BH3-like domain-containing protein, induces apoptosis in a caspase-dependent manner.J Biol Chem. 2004 Jun 18;279(25):26780-8. doi: 10.1074/jbc.M400159200. Epub 2004 Apr 6.
17	BTG2 suppresses cancer cell migration through inhibition of Src-FAK signaling by downregulation of reactive oxygen species generation in mitochondria.Clin Exp Metastasis. 2012 Dec;29(8):901-13. doi: 10.1007/s10585-012-9479-z. Epub 2012 May 6.
18	Optimization of ZD2 Peptide Targeted Gd(HP-DO3A) for Detection and Risk-Stratification of Prostate Cancer with MRI.ACS Med Chem Lett. 2018 Jun 6;9(7):730-735. doi: 10.1021/acsmedchemlett.8b00172. eCollection 2018 Jul 12.
19	Mesenchymal stem cells up-regulate the invasive potential of prostate cancer cells via the eotaxin-3/CCR3 axis.Pathol Res Pract. 2018 Sep;214(9):1297-1302. doi: 10.1016/j.prp.2018.06.012. Epub 2018 Jun 25.
20	Osteolytic prostate cancer cells induce the expression of specific cytokines in bone-forming osteoblasts through a Stat3/5-dependent mechanism.Bone. 2010 Feb;46(2):524-33. doi: 10.1016/j.bone.2009.09.024. Epub 2009 Sep 29.
21	Extracellular matrix dermatopontin modulates prostate cell growth in vivo.J Endocrinol. 2006 Aug;190(2):351-61. doi: 10.1677/joe.1.06619.
22	Targeting NPRL2 to enhance the efficacy of Olaparib in castration-resistant prostate cancer.Biochem Biophys Res Commun. 2019 Jan 8;508(2):620-625. doi: 10.1016/j.bbrc.2018.11.062. Epub 2018 Dec 3.
23	Studies of the antitumor mechanism of action of dermaseptin B2, a multifunctional cationic antimicrobial peptide, reveal a partial implication of cell surface glycosaminoglycans.PLoS One. 2017 Aug 10;12(8):e0182926. doi: 10.1371/journal.pone.0182926. eCollection 2017.
24	Transcriptional regulation of Rex1 (zfp42) in normal prostate epithelial cells and prostate cancer cells.J Cell Physiol. 2010 Jul;224(1):17-27. doi: 10.1002/jcp.22071.
25	Ribonucleotide reductase subunit p53R2 regulates mitochondria homeostasis and function in KB and PC-3 cancer cells.Biochem Biophys Res Commun. 2011 Jun 24;410(1):102-7. doi: 10.1016/j.bbrc.2011.05.114. Epub 2011 May 25.
26	Profiling of zinc-altered gene expression in human prostate normal vs. cancer cells: a time course study.J Nutr Biochem. 2009 Dec;20(12):1000-12. doi: 10.1016/j.jnutbio.2008.09.004. Epub 2008 Dec 13.
27	The significance of TNFAIP8 in prostate cancer response to radiation and docetaxel and disease recurrence.Int J Cancer. 2013 Jul;133(1):31-42. doi: 10.1002/ijc.27996. Epub 2013 Jan 10.
28	Missense mutations in -1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome. Hum Mol Genet. 2013 May 1;22(9):1746-54. doi: 10.1093/hmg/ddt021. Epub 2013 Jan 28.
29	Novel 1-(7-ethoxy-1-benzofuran-2-yl) substituted chalcone derivatives: Synthesis, characterization and anticancer activity.Eur J Med Chem. 2017 Aug 18;136:212-222. doi: 10.1016/j.ejmech.2017.05.017. Epub 2017 May 5.
30	Knockdown of MBP-1 in human prostate cancer cells delays cell cycle progression.J Biol Chem. 2006 Aug 18;281(33):23652-7. doi: 10.1074/jbc.M602930200. Epub 2006 Jun 8.
31	Paradoxical Role of Glypican-1 in Prostate Cancer Cell and Tumor Growth.Sci Rep. 2019 Aug 7;9(1):11478. doi: 10.1038/s41598-019-47874-2.
32	Design, Synthesis, and in Vitro and in Vivo Evaluation of High Affinity and Specificity Near-Infrared Fluorescent Bombesin Antagonists for Tumor Imaging.J Med Chem. 2018 Sep 13;61(17):7657-7670. doi: 10.1021/acs.jmedchem.8b00614. Epub 2018 Aug 27.
33	INSL3 in the benign hyperplastic and neoplastic human prostate gland. Int J Oncol. 2005 Aug;27(2):307-15.
34	The in vitro evaluation of 25-hydroxyvitamin D3 and 19-nor-1alpha,25-dihydroxyvitamin D2 as therapeutic agents for prostate cancer.Clin Cancer Res. 2000 Mar;6(3):901-8.
35	PC3 prostate tumor-initiating cells with molecular profile FAM65Bhigh/MFI2low/LEF1low increase tumor angiogenesis.Mol Cancer. 2010 Dec 29;9:319. doi: 10.1186/1476-4598-9-319.
36	Reparameterization of PAM50 Expression Identifies Novel Breast Tumor Dimensions and Leads to Discovery of a Genome-Wide Significant Breast Cancer Locus at 12q15.Cancer Epidemiol Biomarkers Prev. 2018 Jun;27(6):644-652. doi: 10.1158/1055-9965.EPI-17-0887. Epub 2018 Apr 12.
37	Development of Bispecific NT-PSMA Heterodimer for Prostate Cancer Imaging: A Potential Approach to Address Tumor Heterogeneity.Bioconjug Chem. 2019 May 15;30(5):1314-1322. doi: 10.1021/acs.bioconjchem.9b00252. Epub 2019 May 7.