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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

Disease Browser
Parent Node: Chorea (D002819)
..Starting node ..Paroxysmal nonkinesigenic dyskinesia (C537181)
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:

8689

Name:

Paroxysmal nonkinesigenic dyskinesia

Definition:

Alternative IDs:

OMIM:118800

ParentIDs:

MESH:D002819

TreeNumbers:

C10.228.662.262.249/C537181 |C10.597.350.250/C537181 |C23.888.592.350.250/C537181

Synonyms:

Slim Mappings:

Nervous system disease|Signs and symptoms

Reference:

MedGen: C537181
MeSH: C537181
OMIM: 118800;

Genes: PNKD;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0011463	Childhood onset
3	HP:0003593	Infantile onset
4	HP:0001260	Dysarthria
5	HP:0002015	Dysphagia
6	HP:0000273	Facial grimacing
7	HP:0002411	Myokymia
8	HP:0007098	Paroxysmal choreoathetosis
9	HP:0002268	Paroxysmal dystonia
10	HP:0000473	Torticollis

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_015488.4(PNKD):c.20C>T (p.Ala7Val)	25953	PNKD	Pathogenic	121434512	RCV000001970;	N	MedGen:C1869117,OMIM:118800,ORPHA:98810,SNOMED CT:49949003	2	219135278	219135278	NM_015488.4:c.20C>T	NP_056303.3:p.Ala7Val	NC_000002.11:g.219135278C>T	OMIM Allelic Variant:609023.0002	C1869117 118800 Paroxysmal choreoathetosis
NM_015488.4(PNKD):c.26C>T (p.Ala9Val)	25953	PNKD	Pathogenic	121434511	RCV000001969;	N	MedGen:C1869117,OMIM:118800,ORPHA:98810,SNOMED CT:49949003	2	219135284	219135284	NM_015488.4:c.26C>T	NP_056303.3:p.Ala9Val	NC_000002.11:g.219135284C>T	OMIM Allelic Variant:609023.0001	C1869117 118800 Paroxysmal choreoathetosis
NM_015488.4(PNKD):c.97G>C (p.Ala33Pro)	25953	PNKD	Pathogenic	121434513	RCV000001971;	N	MedGen:C1869117,OMIM:118800,ORPHA:98810,SNOMED CT:49949003	2	219136133	219136133	NM_015488.4:c.97G>C	NP_056303.3:p.Ala33Pro	NC_000002.11:g.219136133G>C	OMIM Allelic Variant:609023.0003	C1869117 118800 Paroxysmal choreoathetosis