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: acute encephalopathy with inflammation-mediated status epilepticus (MONDO:0018200)
Parent Node: adolescent-onset epilepsy syndrome (MONDO:0020073)
..Starting node ..new-onset refractory status epilepticus ()
Child Nodes:
Sister Nodes:
..benign adult familial myoclonic epilepsy ()
..benign focal seizures of adolescence ()
..familial partial epilepsy ()
..new-onset refractory status epilepticus ()
..progressive myoclonic epilepsy ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	18199
Name:	new-onset refractory status epilepticus
Definition:	New-onset refractory status epilepticus is an acute encephalopathy with inflammation-mediated status epilepticus characterized by an acute refractory status epilepticus, typically of the tonic-clonic type, following prodromal symptoms of confusion, fever, fatigue, headache, symptoms of gastrointestinal or upper respiratory tract infection, behavioral changes or hallucinations. Brain MRI abnormalities and abnormal findings in CSF, including pleocytosis and/or elevated protein levels, are frequently found during acute episode. Treatment-resistant epilepsy, cognitive and psychiatric impairments are usual consequences.
Alternative IDs:
ParentIDs:
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Synonyms:	De novo cryptogenic refractory multifocal febrile status epilepticus; New onset refractory status epilepticus; Norse
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal