Details of Disease

Disease Name

Episodic kinesigenic dyskinesia 1

EKD1; dystonia 10; dystonia, familial paroxysmal; DYT-PRRT2; paroxysmal kinesigenic choreoathetosis; paroxysmal kinesigenic dyskinesia; PxMD-PRRT2; episodic kinesigenic dyskinesia 1; episodic kinesigenic dyskinesia caused by mutation in PRRT2; PRRT2 episodic kinesigenic dyskinesia; episodic kinesigenic dyskinesia type 1

Disease Hierarchy

DIS65CHB: Episodic kinesigenic dyskinesia

DISGVQMP: Episodic kinesigenic dyskinesia 1

Disease Identifiers

MONDO ID

MONDO_0100352

MESH ID

C537180

UMLS CUI

C4552000

OMIM ID

128200

MedGen ID

1636366

General Information of Disease (ID: DISGVQMP)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 17 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CLCN1	TTUYAF3	Limited	Biomarker	[1]
PRKCA	TTFJ8Q1	Limited	Biomarker	[2]
PRKCB	TTYPXQF	Limited	Biomarker	[2]
ADRB1	TTR6W5O	Strong	Biomarker	[3]
AVPR2	TTK8R02	Strong	Genetic Variation	[4]
CFI	TT6ATLX	Strong	Biomarker	[5]
FABP1	TTIV96N	Strong	Biomarker	[6]
FKBP1A	TTMW94E	Strong	Biomarker	[7]
KCNA1	TTS3DIK	Strong	Genetic Variation	[8]
NEK8	TT8AH9I	Strong	Genetic Variation	[9]
PDK1	TTCZOF2	Strong	Biomarker	[10]
PIP5K1A	TTA7DU1	Strong	Altered Expression	[11]
PKLR	TT31N4S	Strong	Genetic Variation	[12]
SSTR5	TT2BC4G	Strong	Biomarker	[13]
TRPV1	TTMI6F5	Strong	Altered Expression	[14]
KCNA5	TTW0CMT	Definitive	Genetic Variation	[15]
KCNA6	TTJ2W69	Definitive	Genetic Variation	[15]
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⏷ Show the Full List of 17 DTT(s)

This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC35A1	DTVZIRG	Strong	Biomarker	[16]
SLC9A5	DTI6LSR	Strong	Genetic Variation	[17]
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This Disease Is Related to 26 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ANKS6	OT6DXD3Q	Limited	Genetic Variation	[9]
KIAA0319	OTN42Y77	Limited	Genetic Variation	[18]
KIAA0319L	OTZ5X6IM	Limited	Genetic Variation	[18]
NKX2-1	OTCMEJTA	Limited	Genetic Variation	[19]
POC1B	OTDIMIRZ	Limited	Biomarker	[20]
PTMA	OT2W4T1M	Limited	Biomarker	[21]
FNIP1	OTB1CC41	moderate	Biomarker	[22]
ANKS3	OTFXNRZD	Strong	Genetic Variation	[23]
AQP2	OTQLBKK6	Strong	Biomarker	[24]
EXOC5	OT9S9NJ7	Strong	Biomarker	[25]
GAL3ST1	OTSFFZRD	Strong	Biomarker	[16]
GPR50	OT0EJBM4	Strong	Biomarker	[26]
GPSM1	OTA0SJBG	Strong	Biomarker	[27]
GULP1	OT1WMVDH	Strong	Biomarker	[28]
IFT88	OTDR3VBD	Strong	Biomarker	[29]
INPP5E	OTJF2AZ9	Strong	Biomarker	[30]
KIF3A	OTMUBSSK	Strong	Altered Expression	[31]
PIK3R4	OTRL8QP8	Strong	Biomarker	[32]
PKD1L3	OTQMYNOW	Strong	Genetic Variation	[33]
PKHD1	OTAH8SMF	Strong	Genetic Variation	[34]
PRRT2	OTCJUBDO	Strong	Autosomal dominant	[35]
RANGAP1	OTZGD3LJ	Strong	Biomarker	[36]
RNASEH2C	OTJL9ZRN	Strong	Biomarker	[27]
PLEK	OTB73XXA	Definitive	Biomarker	[37]
SGCE	OT9F17JB	Definitive	Biomarker	[38]
STX1B	OTSW59X0	Definitive	Biomarker	[39]
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⏷ Show the Full List of 26 DOT(s)

References

1	Paroxysmal kinesigenic dyskinesia and myotonia congenita in the same family: coexistence of a PRRT2 mutation and two CLCN1 mutations.Neurosci Bull. 2014 Dec;30(6):1010-1016. doi: 10.1007/s12264-014-1467-7. Epub 2014 Sep 5.
2	PKC promotes axonal remodeling in the cortico-spinal tract via GSK3/-catenin signaling after traumatic brain injury.Sci Rep. 2019 Nov 19;9(1):17078. doi: 10.1038/s41598-019-53225-y.
3	Regulation of cardiac myocyte cohesion and gap junctions via desmosomal adhesion.Acta Physiol (Oxf). 2019 Jun;226(2):e13242. doi: 10.1111/apha.13242. Epub 2019 Jan 19.
4	Polycystic Kidney Disease and the Vasopressin Pathway.Ann Nutr Metab. 2017;70 Suppl 1:43-50. doi: 10.1159/000463063. Epub 2017 Jun 15.
5	Transcriptional modulation of the human complement factor I gene in Hep G2 cells by protein kinase C activation.Mol Cell Biochem. 1999 Nov;201(1-2):111-23. doi: 10.1023/a:1007064602321.
6	Urinary Level of Liver-Type Fatty Acid Binding Protein Reflects the Degree of Tubulointerstitial Damage in Polycystic Kidney Disease.Kidney Blood Press Res. 2018;43(6):1716-1729. doi: 10.1159/000495389. Epub 2018 Nov 23.
7	Effects of PEP-1-FK506BP on cyst formation in polycystic kidney disease.BMB Rep. 2017 Sep;50(9):460-465. doi: 10.5483/bmbrep.2017.50.9.090.
8	Familial paroxysmal kinesigenic dyskinesia is associated with mutations in the KCNA1 gene. Hum Mol Genet. 2018 Feb 15;27(4):625-637. doi: 10.1093/hmg/ddx430.
9	High-resolution genetic localization of a modifying locus affecting disease severity in the juvenile cystic kidneys (jck) mouse model of polycystic kidney disease.Mamm Genome. 2016 Jun;27(5-6):191-9. doi: 10.1007/s00335-016-9633-z. Epub 2016 Apr 25.
10	Unveiling the olfactory proteostatic disarrangement in Parkinson's disease by proteome-wide profiling.Neurobiol Aging. 2019 Jan;73:123-134. doi: 10.1016/j.neurobiolaging.2018.09.018. Epub 2018 Sep 25.
11	Apical PtdIns(4,5)P(2) is required for ciliogenesis and suppression of polycystic kidney disease.FASEB J. 2019 Feb;33(2):2848-2857. doi: 10.1096/fj.201800385RRR. Epub 2018 Oct 15.
12	Gene editing of PKLR gene in human hematopoietic progenitors through 5' and 3' UTR modified TALEN mRNA.PLoS One. 2019 Oct 16;14(10):e0223775. doi: 10.1371/journal.pone.0223775. eCollection 2019.
13	TSC2/PKD1 contiguous gene syndrome, with emphasis on a case with an atypical mild polycystic kidney phenotype and a novel genetic variant.Nefrologia (Engl Ed). 2020 Jan-Feb;40(1):91-98. doi: 10.1016/j.nefro.2019.03.003. Epub 2019 Jun 5.
14	TRPV1 channel contributes to remifentanil-induced postoperative hyperalgesia via regulation of NMDA receptor trafficking in dorsal root ganglion.J Pain Res. 2019 Feb 15;12:667-677. doi: 10.2147/JPR.S186591. eCollection 2019.
15	Familial dyskinesia and facial myokymia (FDFM): a novel movement disorder.Ann Neurol. 2001 Apr;49(4):486-92.
16	Cortistatin inhibits arterial calcification in rats via GSK3/-catenin and protein kinase C signalling but not c-Jun N-terminal kinase signalling.Acta Physiol (Oxf). 2018 Jul;223(3):e13055. doi: 10.1111/apha.13055. Epub 2018 Mar 8.
17	Mutation analysis of the sodium/hydrogen exchanger gene (NHE5) in familial paroxysmal kinesigenic dyskinesia.J Neural Transm (Vienna). 2002 Sep;109(9):1189-94. doi: 10.1007/s00702-002-0750-3.
18	Adeno-associated virus 2 bound to its cellular receptor AAVR.Nat Microbiol. 2019 Apr;4(4):675-682. doi: 10.1038/s41564-018-0356-7. Epub 2019 Feb 11.
19	Genetics of Huntington's disease and related disorders.Drug Discov Today. 2014 Jul;19(7):985-9. doi: 10.1016/j.drudis.2014.03.005. Epub 2014 Mar 18.
20	Analysis of catechol-O-methyltransferase gene mutation and identification of new pathogenic gene for paroxysmal kinesigenic dyskinesia.Neurol Sci. 2016 Mar;37(3):377-83. doi: 10.1007/s10072-015-2432-6. Epub 2015 Dec 9.
21	Prothymosin promotes STAT3 acetylation to induce cystogenesis in Pkd1-deficient mice.FASEB J. 2019 Nov;33(11):13051-13061. doi: 10.1096/fj.201900504R. Epub 2019 Oct 5.
22	Loss of Fnip1 alters kidney developmental transcriptional program and synergizes with TSC1 loss to promote mTORC1 activation and renal cyst formation.PLoS One. 2018 Jun 13;13(6):e0197973. doi: 10.1371/journal.pone.0197973. eCollection 2018.
23	The SAM domain of ANKS6 has different interacting partners and mutations can induce different cystic phenotypes.Kidney Int. 2015 Aug;88(2):299-310. doi: 10.1038/ki.2015.122. Epub 2015 Jun 3.
24	Steviol slows renal cyst growth by reducing AQP2 expression and promoting AQP2 degradation.Biomed Pharmacother. 2018 May;101:754-762. doi: 10.1016/j.biopha.2018.02.139. Epub 2018 Mar 22.
25	The exocyst protein Sec10 interacts with Polycystin-2 and knockdown causes PKD-phenotypes.PLoS Genet. 2011 Apr;7(4):e1001361. doi: 10.1371/journal.pgen.1001361. Epub 2011 Apr 7.
26	Physiological crosstalk between the AC/PKA and PLC/PKC pathways modulates melatonin-mediated, monochromatic-light-induced proliferation of T-lymphocytes in chickens.Cell Tissue Res. 2017 Sep;369(3):555-565. doi: 10.1007/s00441-017-2644-6. Epub 2017 Jun 28.
27	Activator of G protein signaling 3 promotes epithelial cell proliferation in PKD.J Am Soc Nephrol. 2010 Aug;21(8):1275-80. doi: 10.1681/ASN.2009121224. Epub 2010 May 20.
28	Attenuation of amyloid- generation by atypical protein kinase C-mediated phosphorylation of engulfment adaptor PTB domain containing 1 threonine 35.FASEB J. 2019 Nov;33(11):12019-12035. doi: 10.1096/fj.201802825RR. Epub 2019 Aug 5.
29	Primary cilia and signaling pathways in mammalian development, health and disease.Nephron Physiol. 2009;111(3):p39-53. doi: 10.1159/000208212. Epub 2009 Mar 10.
30	AKT signaling promotes DNA damage accumulation and proliferation in polycystic kidney disease.Hum Mol Genet. 2020 Jan 1;29(1):31-48. doi: 10.1093/hmg/ddz232.
31	Adenylyl cyclase 5 deficiency reduces renal cyclic AMP and cyst growth in an orthologous mouse model of polycystic kidney disease.Kidney Int. 2018 Feb;93(2):403-415. doi: 10.1016/j.kint.2017.08.005. Epub 2017 Oct 14.
32	Vps15 is critical to mediate autophagy in AngII treated HUVECs probably by PDK1/PKC signaling pathway.Life Sci. 2019 Sep 15;233:116701. doi: 10.1016/j.lfs.2019.116701. Epub 2019 Jul 26.
33	Sour ageusia in two individuals implicates ion channels of the ASIC and PKD families in human sour taste perception at the anterior tongue.PLoS One. 2009 Oct 8;4(10):e7347. doi: 10.1371/journal.pone.0007347.
34	Proliferative signaling by ERBB proteins and RAF/MEK/ERK effectors in polycystic kidney disease.Cell Signal. 2020 Mar;67:109497. doi: 10.1016/j.cellsig.2019.109497. Epub 2019 Dec 9.
35	Familial Paroxysmal Kinesigenic Dyskinesia C RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. 2005 Jun 24 [updated 2013 Jun 27]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.
36	Segregation analysis of autosomal dominant polycystic kidney disease.Genet Epidemiol. 1993;10(3):189-200. doi: 10.1002/gepi.1370100305.
37	Proline-rich transmembrane protein 2-negative paroxysmal kinesigenic dyskinesia: Clinical and genetic analyses of 163 patients.Mov Disord. 2018 Mar;33(3):459-467. doi: 10.1002/mds.27274. Epub 2018 Jan 22.
38	Microdeletions detected using chromosome microarray in children with suspected genetic movement disorders: a single-centre study.Dev Med Child Neurol. 2012 Jul;54(7):618-23. doi: 10.1111/j.1469-8749.2012.04287.x. Epub 2012 Apr 19.
39	A PRRT2 variant in a Chinese family with paroxysmal kinesigenic dyskinesia and benign familial infantile seizures results in loss of interaction with STX1B.Epilepsia. 2018 Aug;59(8):1621-1630. doi: 10.1111/epi.14511. Epub 2018 Jul 15.