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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)
Parent Node: Epilepsy, Generalized (D004829)
..Starting node ..Generalized Epilepsy and Paroxysmal Dyskinesia (C563719)
Child Nodes:
Sister Nodes:
..Epilepsy, Absence (D004832) 1
..Epilepsy, Idiopathic Generalized (C562694)
..Epilepsy, Tonic-Clonic (D004830) 1
..Generalized Epilepsy and Paroxysmal Dyskinesia (C563719)
..Generalized Epilepsy with Febrile Seizures Plus (C565808)
..Generalized Epilepsy With Febrile Seizures Plus, 7 (C567827)
..Generalized Epilepsy With Febrile Seizures Plus, Type 1 (C565809)
..Generalized Epilepsy With Febrile Seizures Plus, Type 2 (C565810)
..Generalized Epilepsy With Febrile Seizures Plus, Type 3 (C565811)
..Generalized Epilepsy With Febrile Seizures Plus, Type 4 (C565227)
..Generalized Epilepsy With Febrile Seizures Plus, Type 5 (C565812)
..Generalized Epilepsy With Febrile Seizures Plus, Type 6 (C567371)
..GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 8 (OMIM:613828)
..Nodding Syndrome (D064128)
..PHOTOPAROXYSMAL RESPONSE 2 (OMIM:609572)
..Spasms, Infantile (D013036) 9
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

4547

Name:

Generalized Epilepsy and Paroxysmal Dyskinesia

Definition:

Alternative IDs:

OMIM:609446

ParentIDs:

MESH:D002819|MESH:D004829

TreeNumbers:

C10.228.140.490.375/C563719 |C10.228.662.262.249/C563719 |C10.597.350.250/C563719 |C23.888.592.350.250/C563719

Synonyms:

Epilepsy, Generalized, with Paroxysmal Dyskinesia |GEPD

Slim Mappings:

Nervous system disease|Signs and symptoms

Reference:

MedGen: C563719
MeSH: C563719
OMIM: 609446;

Genes: KCNMA1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0002069	Bilateral tonic-clonic seizure
3	HP:0010849	EEG with spike-wave complexes (>3.5 Hz)
4	HP:0002121	Generalized non-motor (absence) seizure
5	HP:0007166	Paroxysmal dyskinesia

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	Disease_hgmd
NM_001014797.2(KCNMA1):c.1301A>G (p.Asp434Gly)	3778	KCNMA1	Pathogenic	137853333	RCV000010034;	N	MedGen:C1836173,OMIM:609446,ORPHA:79137	10	78850191	78850191	NM_001014797.2:c.1301A>G	NP_001014797.1:p.Asp434Gly	NC_000010.10:g.78850191T>C	OMIM Allelic Variant:600150.0001	C1836173 609446 Generalized epilepsy and paroxysmal dyskinesia
NM_002247.3(KCNMA1):c.1054A>G (p.Thr352Ala)	3778	KCNMA1	Likely pathogenic	863224885	RCV000200082;	N	MedGen:C1836173,OMIM:609446,ORPHA:79137	10	78870008	78870008	NM_002247.3:c.1054A>G	NP_002238.2:p.Thr352Ala	NC_000010.10:g.78870008T>C	-	C1836173 609446 Generalized epilepsy and paroxysmal dyskinesia