MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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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

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: adolescent-onset epilepsy syndrome (MONDO:0020073)
Parent Node: primary myoclonus (MONDO:0017651)
..Starting node ..benign adult familial myoclonic epilepsy ()
Child Nodes:
........epilepsy, familial adult myoclonic, 2 ()
........epilepsy, familial adult myoclonic, 5 ()
........FAME1 ()
........FAME3 ()
........FAME4 ()
Sister Nodes:
..benign adult familial myoclonic epilepsy ()
..familial cortical myoclonus ()
..myoclonus-dystonia syndrome ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	19448
Name:	benign adult familial myoclonic epilepsy
Definition:	Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	ADCME; autosomal dominant cortical myoclonus and epilepsy; BAFME; benign adult familial myoclonus epilepsy; FAME; familial adult myoclonic epilepsy; familial cortical myoclonic tremor and epilepsy; FCMTE
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal