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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Chorea (D002819)
..Starting node ..Episodic Kinesigenic Dyskinesia 1 (C566847)
Child Nodes:
Sister Nodes:
..Chorea Gravidarum (D020150)
..Chorea, Benign Familial (C565851)
..Chorea, remitting with nystagmus and cataracts (C535355)
..Choreoathetosis, Familial Inverted (C566127)
..Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress (C567034)
..Costeff optic atrophy syndrome (C535311)
..Episodic Kinesigenic Dyskinesia 1 (C566847)
..Generalized Epilepsy and Paroxysmal Dyskinesia (C563719)
..Huntington Disease (D006816) 3
..Huntington Disease-Like 2 (C564708)
..Neuroacanthocytosis (D054546) 1
..Paroxysmal nonkinesigenic dyskinesia (C537181)
..Paroxysmal Nonkinesigenic Dyskinesia 2 (C567001)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

3931

Name:

Episodic Kinesigenic Dyskinesia 1

Definition:

Alternative IDs:

OMIM:128200

ParentIDs:

MESH:D002819

TreeNumbers:

C10.228.662.262.249/C566847 |C10.597.350.250/C566847 |C23.888.592.350.250/C566847

Synonyms:

Dystonia 10 |DYSTONIA, FAMILIAL PAROXYSMAL |DYT10 |EKD1 |Familial Paroxysmal Kinesigenic Dyskinesia |PAROXYSMAL KINESIGENIC CHOREOATHETOSIS |Paroxysmal Kinesigenic Dyskinesia |PKC |PKD

Slim Mappings:

Nervous system disease|Signs and symptoms

Reference:

MedGen: C566847
MeSH: C566847
OMIM: 128200;

Genes: PRRT2;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000271	Abnormality of the face
3	HP:0003829	Incomplete penetrance
4	HP:0002310	Orofacial dyskinesia
5	HP:0007098	Paroxysmal choreoathetosis
6	HP:0002268	Paroxysmal dystonia
7	HP:0001250	Seizure	HP:0040284

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_145239.2(PRRT2):c.487C>T (p.Gln163Ter)	112476	PRRT2	Pathogenic	387907127	RCV000024174; RCV000024175; RCV000188764;	N	MedGen:C1865926,OMIM:602066,ORPHA:31709; MedGen:C1868682,OMIM:128200; MedGen:CN221809	16	29824862	29824862	NM_145239.2:c.487C>T	NP_660282.2:p.Gln163Ter	NC_000016.9:g.29824862C>T	OMIM Allelic Variant:614386.0009	C1868682 128200 Dystonia 10; C1865926 602066 Infantile convulsions and paroxysmal choreoathetosis, familial; CN221809 not provided
NM_145239.2(PRRT2):c.510dupT (p.Leu171Serfs)	112476	PRRT2	Pathogenic	397515576	RCV000055989;	N	MedGen:C1868682,OMIM:128200	16	29824885	29824885	NM_145239.2:c.510dupT	NP_660282.2:p.Leu171Serfs	NC_000016.9:g.29824885dupT	-	C1868682 128200 Dystonia 10
NM_145239.2(PRRT2):c.514_517delTCTG (p.Ser172Argfs)	112476	PRRT2	Pathogenic	730882065	RCV000024167;	N	MedGen:C1868682,OMIM:128200	16	29824889	29824892	NM_145239.2:c.514_517delTCTG	NP_660282.2:p.Ser172Argfs	NC_000016.9:g.29824889_29824892delTCTG	OMIM Allelic Variant:614386.0002	C1868682 128200 Dystonia 10
NM_145239.2(PRRT2):c.647C>G (p.Pro216Arg)	112476	PRRT2	Pathogenic;Uncertain significance	76335820	RCV000055990; RCV000188771;	N	MedGen:C1868682,OMIM:128200; MedGen:CN169374	16	29825022	29825022	NM_145239.2:c.647C>G	NP_660282.2:p.Pro216Arg	NC_000016.9:g.29825022C>A,NC_000016.9:g.29825022C>G,NC_000016.9:g.29825022C>T	-	C1868682 128200 Dystonia 10; CN169374 not specified
NM_145239.2(PRRT2):c.649delC (p.Arg217Glufs)	112476	PRRT2	Pathogenic	730882071	RCV000032970; RCV000188778;	N	MedGen:C1868682,OMIM:128200; MedGen:CN221809	16	29825024	29825024	NM_145239.2:c.649delC	NP_660282.2:p.Arg217Glufs	NC_000016.9:g.29825024delC	OMIM Allelic Variant:614386.0011	C1868682 128200 Dystonia 10; CN221809 not provided
NM_145239.2(PRRT2):c.748C>T (p.Gln250Ter)	112476	PRRT2	Pathogenic	397514579	RCV000032974; RCV000032975;	N	Gene:81865,MedGen:C1853995,OMIM:605751; MedGen:C1868682,OMIM:128200	16	29825123	29825123	NM_145239.2:c.748C>T	NP_660282.2:p.Gln250Ter	NC_000016.9:g.29825123C>T	OMIM Allelic Variant:614386.0015	C1868682 128200 Dystonia 10; C1853995 605751 Seizures, benign familial infantile, 2
NM_145239.2(PRRT2):c.796C>T (p.Arg266Trp)	112476	PRRT2	Pathogenic	387907128	RCV000024176;	N	MedGen:C1868682,OMIM:128200	16	29825171	29825171	NM_145239.2:c.796C>T	NP_660282.2:p.Arg266Trp	NC_000016.9:g.29825171C>T	OMIM Allelic Variant:614386.0010	C1868682 128200 Dystonia 10
NM_145239.2(PRRT2):c.972delA (p.Val325Serfs)	112476	PRRT2	Pathogenic	730882066	RCV000024168;	N	MedGen:C1868682,OMIM:128200	16	29825746	29825746	NM_145239.2:c.972delA	NP_660282.2:p.Val325Serfs	NC_000016.9:g.29825746delA	OMIM Allelic Variant:614386.0003	C1868682 128200 Dystonia 10