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Parent Node:
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Spasms, Infantile (D013036)
..Starting node
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EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46 (OMIM:617162)

       Child Nodes:



 Sister Nodes: 
..expandConvulsions, Benign Familial Infantile, 2 (C565296)
..expandEpileptic Encephalopathy, Early Infantile, 1 (C567924)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 (OMIM:613721)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 (OMIM:613722)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13 (OMIM:614558)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 (OMIM:614959)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17 (OMIM:615473)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 18 (OMIM:615476)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19 (OMIM:615744)
..expandEpileptic Encephalopathy, Early Infantile, 2 (C564064)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 (OMIM:615833)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23 (OMIM:615859)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24 (OMIM:615871)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25 (OMIM:615905)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 (OMIM:616056)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 (OMIM:616139)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28 (OMIM:616211)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29 (OMIM:616339)
..expandEpileptic Encephalopathy, Early Infantile, 3 (C562695)  LSDB  L: 00103;
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30 (OMIM:616341)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31 (OMIM:616346)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32 (OMIM:616366)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33 (OMIM:616409)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34 (OMIM:616645)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35 (OMIM:616647)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36 (OMIM:300884)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37 (OMIM:616981)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 38 (OMIM:617020)
..expandEpileptic Encephalopathy, Early Infantile, 4 (C567404)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 40 (OMIM:617065)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41 (OMIM:617105)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 (OMIM:617106)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43 (OMIM:617113)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 (OMIM:617132)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45 (OMIM:617153)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46 (OMIM:617162)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47 (OMIM:617166)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48 (OMIM:617276)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 49 (OMIM:617281)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 (OMIM:613477)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50 (OMIM:616457)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51 (OMIM:617339)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52 (OMIM:617350)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53 (OMIM:617389)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 54 (OMIM:617391)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 (OMIM:613720)
..expandMicrocephaly, corpus callosum dysgenesis and cleft lip-palate (C537547)
..expandNorrie disease (C537849)
..expandPEHO syndrome (C536317)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:4326
Name:EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46
Definition:
Alternative IDs:
ParentIDs:MESH:D013036
TreeNumbers:C10.228.140.490.375.760/617162 |C10.228.140.490.493.875/617162
Synonyms:EIEE46
Slim Mappings:Nervous system disease
Reference: MedGen: 617162
MeSH: 617162
OMIM: 617162;
MSeqDR LSDB:  
Genes: KNG1;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0003593Infantile onset
3 HP:0100704Cortical visual impairment
4 HP:0002015Dysphagia
NAMDC:  Dysphagia
5 HP:0200134Epileptic encephalopathy
6 HP:0001508Failure to thrive
7 HP:0011968Feeding difficulties
8 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
9 HP:0001263Global developmental delay
NAMDC:  Mental retardation
10 HP:0002521Hypsarrhythmia
11 HP:0000252Microcephaly
12 HP:0008936Muscular hypotonia of the trunk
13 HP:0001763Pes planus
14 HP:0001250Seizures
NAMDC:  Seizures
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_000836.2(GRIN2D):c.1345G>A (p.Asp449Asn)2906GRIN2DPathogenicrs1569064110RCV000736017; NMONDO:MONDO:0014947,MedGen:C4310687,OMIM:617162194891777448917774GA19:g.48917774G>AOMIM:602717.0004
NM_000836.2(GRIN2D):c.1605G>T (p.Met535Ile)2906GRIN2DUncertain significancers1390364278RCV000990239; NMONDO:MONDO:0014947,MedGen:C4310687,OMIM:617162194891928248919282GT19:g.48919282G>T-
NM_000836.2:c.1724C>T2906GRIN2DLikely pathogenic-1RCV001251166; NMONDO:MONDO:0014947,MedGen:C4310687,OMIM:617162194891940148919401CT19:g.48919401C>T-
NM_000836.2(GRIN2D):c.1999G>A (p.Val667Ile)2906GRIN2DPathogenicrs886040861RCV000257970; NMONDO:MONDO:0014947,MedGen:C4310687,OMIM:617162194892297948922979GA19:g.48922979G>AUniProtKB:O15399#VAR_077103,OMIM:602717.0001,ClinGen:CA10590055C4310687 617162 Epileptic encephalopathy, early infantile, 46;
NM_000836.2(GRIN2D):c.2008C>T (p.Leu670Phe)2906GRIN2DUncertain significancers1600982189RCV001004763; NMONDO:MONDO:0014947,MedGen:C4310687,OMIM:617162194892298848922988CT19:g.48922988C>T-
NM_000836.2(GRIN2D):c.2043G>C (p.Met681Ile)2906GRIN2DPathogenicrs1569065861RCV000736015; NMONDO:MONDO:0014947,MedGen:C4310687,OMIM:617162194892302348923023GC19:g.48923023G>COMIM:602717.0002
NM_000836.2(GRIN2D):c.2080A>C (p.Ser694Arg)2906GRIN2DPathogenicrs1569065866RCV000736016; NMONDO:MONDO:0014947,MedGen:C4310687,OMIM:617162194892306048923060AC19:g.48923060A>COMIM:602717.0003
NM_000836.2(GRIN2D):c.2308G>A (p.Asp770Asn)2906GRIN2DUncertain significance-1RCV001170001; NMONDO:MONDO:0014947,MedGen:C4310687,OMIM:617162194894508148945081GA19:g.48945081G>A-
NM_000836.2(GRIN2D):c.2888G>A (p.Arg963His)2906GRIN2DUncertain significancers964725459RCV000850374; NMONDO:MONDO:0014947,MedGen:C4310687,OMIM:617162194894607148946071GA19:g.48946071G>A-
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