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: epilepsy (MONDO:0005027)
..Starting node ..metabolic epilepsy ()
Child Nodes:
........biotinidase deficiency ()
........cerebral creatine deficiency syndrome ()
........cerebral folate deficiency ()
........folinic acid-responsive seizures ()
........GLUT1 deficiency syndrome ()
........holocarboxylase synthetase deficiency ()
........mitochondrial disease with epilepsy ()
........peroxisomal disease ()
........pyridoxal phosphate-responsive seizures ()
........pyridoxine-dependent epilepsy ()
Sister Nodes:
..arthrogryposis epileptic seizures migrational brain disorder ()
..cerebral diseases of vascular origin with epilepsy ()
..cerebral malformation with epilepsy ()
..chromosomal anomaly with epilepsy as a major feature ()
..Coffin-Lowry syndrome ()
..electroclinical syndrome ()
..epilepsia partialis continua ()
..epilepsy syndrome ()
..extratemporal epilepsy ()
..generalised epilepsy ()
..idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes ()
..immune epilepsy ()
..infectious disease with epilepsy ()
..inflammatory and autoimmune disease with epilepsy ()
..metabolic disease with epilepsy ()
..metabolic epilepsy ()
..monogenic disease with epilepsy ()
..partial epilepsy ()
..post-traumatic epilepsy ()
..status epilepticus ()
..structural epilepsy ()
..variable age onset epilepsy ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	100033
Name:	metabolic epilepsy
Definition:	Metabolic epilepsies are conceptualized as having a distinct metabolic abnormality that has been demonstrated to be associated with a substantially increased risk of developing epilepsy in appropriately designed studies. Metabolic disorders have genetic origin; however, the metabolic abnormalities are a separate disorder interposed between the genetic defect and the epilepsy.
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Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
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