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Spasms, Infantile (D013036)
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EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48 (OMIM:617276)

       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:4328
Name:EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48
Definition:
Alternative IDs:
ParentIDs:MESH:D013036
TreeNumbers:C10.228.140.490.375.760/617276 |C10.228.140.490.493.875/617276
Synonyms:EIEE48
Slim Mappings:Nervous system disease
Reference: MedGen: 617276
MeSH: 617276
OMIM: 617276;
MSeqDR LSDB:  
Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001344Absent speech
3 HP:0001272Cerebellar atrophyHP:0040283
4 HP:0002059Cerebral atrophyHP:0040283
5 HP:0100660Dyskinesia
6 HP:0200134Epileptic encephalopathy
7 HP:0001290Generalized hypotonia
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:0002079Hypoplasia of the corpus callosumHP:0040283
11 HP:0002521HypsarrhythmiaHP:0040283
12 HP:0000252MicrocephalyHP:0040283
13 HP:0000817Poor eye contact
14 HP:0000510Rod-cone dystrophy
15 HP:0002133Status epilepticusHP:0040283
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001278512.2(AP3B2):c.3293C>A (p.Ala1098Asp)8120AP3B2Uncertain significance188892600RCV001333280|RCV001859309; NMONDO:MONDO:0015000,MedGen:C4310637,OMIM:617276|MedGen:C366190015833283258332832583328325-
NM_001278512.2(AP3B2):c.3155+10C>T8120AP3B2Benign/Likely benign113056981RCV000954746|RCV002502965; NMedGen:C3661900|MONDO:MONDO:0015000,MedGen:C4310637,OMIM:61727615833285878332858715:g.83328587G>A-
NM_001278512.2(AP3B2):c.3143C>A (p.Ser1048Tyr)8120AP3B2Conflicting interpretations of pathogenicity147455569RCV000968311|RCV001329941; NMedGen:C3661900|MONDO:MONDO:0015000,MedGen:C4310637,OMIM:61727615833286098332860915:g.83328609G>T-
NM_001278512.2(AP3B2):c.2978_2979del (p.Pro993fs)8120AP3B2Pathogenic/Likely pathogenic1347618037RCV001268750|RCV001376173; NMedGen:CN517202|MONDO:MONDO:0015000,MedGen:C4310637,OMIM:61727615833306148333061515:g.83330614_83330615del-
NM_001278512.2(AP3B2):c.2930G>A (p.Arg977Gln)8120AP3B2Uncertain significance572047686RCV001420660|RCV002554095; NMONDO:MONDO:0015000,MedGen:C4310637,OMIM:617276|MedGen:C366190015833306638333066383330663-
NM_001278512.2(AP3B2):c.2929C>T (p.Arg977Ter)8120AP3B2Pathogenic-1RCV003132032; NMONDO:MONDO:0015000,MedGen:C4310637,OMIM:617276158333066483330664NC_000015.9:g.83330664G>A-
NM_001278512.2(AP3B2):c.2679C>G (p.Asp893Glu)8120AP3B2Uncertain significance757342482RCV001336722|RCV001871893; NMONDO:MONDO:0015000,MedGen:C4310637,OMIM:617276|MedGen:CN51720215833316008333160083331600-
NM_001278512.2(AP3B2):c.2633G>A (p.Arg878Gln)8120AP3B2Conflicting interpretations of pathogenicity529642370RCV001336721|RCV002070213; NMONDO:MONDO:0015000,MedGen:C4310637,OMIM:617276|MedGen:C366190015833316468333164683331646-
NM_001278512.2(AP3B2):c.2599C>T (p.Pro867Ser)8120AP3B2Uncertain significance2151427966RCV001839386; NMONDO:MONDO:0015000,MedGen:C4310637,OMIM:61727615833318848333188483331884-
NM_001278512.2(AP3B2):c.2579_2582del (p.Leu860fs)8120AP3B2Pathogenic1057519271RCV000415561; NMONDO:MONDO:0015000,MedGen:C4310637,OMIM:61727615833319018333190415:g.83331901_83331904delClinGen:CA16043938,OMIM:602166.0004C4310637 617276 Epileptic encephalopathy, early infantile, 48;
NM_001278512.2(AP3B2):c.1958_1959del (p.Val653fs)8120AP3B2Pathogenic/Likely pathogenic-1RCV002866983|RCV003152804; NMedGen:CN517202|MONDO:MONDO:0015000,MedGen:C4310637,OMIM:617276158333422183334222NC_000015.9:g.83334221CA[1]-
NM_001278512.2(AP3B2):c.1837del (p.Glu613fs)8120AP3B2Pathogenic1057519272RCV000415523; NMONDO:MONDO:0015000,MedGen:C4310637,OMIM:61727615833355148333551415:g.83335514_83335514delClinGen:CA16043939,OMIM:602166.0006C4310637 617276 Epileptic encephalopathy, early infantile, 48;
NM_001278512.2(AP3B2):c.1767C>A (p.Ser589=)8120AP3B2Conflicting interpretations of pathogenicity776921804RCV001941447|RCV003136351; NMedGen:C3661900|MONDO:MONDO:0015000,MedGen:C4310637,OMIM:61727615833355848333558483335584-
NM_001278512.2(AP3B2):c.1750C>T (p.Gln584Ter)8120AP3B2Likely pathogenic-1RCV003132975; NMONDO:MONDO:0015000,MedGen:C4310637,OMIM:617276158333560183335601NC_000015.9:g.83335601G>A-
NM_001278512.2(AP3B2):c.1489-245_1665+2029del8120AP3B2Pathogenic-1RCV000415518; NMONDO:MONDO:0015000,MedGen:C4310637,OMIM:61727615833431848334563415:g.83343184_83343282delClinGen:CA16043937,OMIM:602166.0003C4310637 617276 Epileptic encephalopathy, early infantile, 48;
NM_001278512.2(AP3B2):c.1636G>C (p.Ala546Pro)8120AP3B2Uncertain significance775126490RCV001336720|RCV002546792; NMONDO:MONDO:0015000,MedGen:C4310637,OMIM:617276|MedGen:CN51720215833452428334524283345242-
NM_001278512.2(AP3B2):c.1379-6C>G8120AP3B2Conflicting interpretations of pathogenicity1030446693RCV002227685|RCV003120843; NMONDO:MONDO:0015000,MedGen:C4310637,OMIM:617276|MedGen:C366190015833461418334614183346141-
NM_001278512.2(AP3B2):c.1183-19T>G8120AP3B2Conflicting interpretations of pathogenicity377729111RCV001336719|RCV002070212; NMONDO:MONDO:0015000,MedGen:C4310637,OMIM:617276|MedGen:CN51720215833469388334693883346938-
NM_001278512.2(AP3B2):c.1182G>A (p.Lys394=)8120AP3B2Pathogenic/Likely pathogenic1057519269RCV000415544|RCV000824906; NMONDO:MONDO:0015000,MedGen:C4310637,OMIM:617276|Human Phenotype Ontology:HP:0200134,MedGen:C0543888158334848183348481NC_000015.9:g.83348481C>TClinGen:CA16043935,OMIM:602166.0001C4310637 617276 Epileptic encephalopathy, early infantile, 48;
NM_001278512.2(AP3B2):c.1110+5G>A8120AP3B2Uncertain significance-1RCV003142483; NMONDO:MONDO:0015000,MedGen:C4310637,OMIM:617276158334892283348922NC_000015.9:g.83348922C>T-
NM_001278512.2(AP3B2):c.1110+3G>C8120AP3B2Uncertain significance-1RCV002893841|RCV003152805; NMedGen:CN517202|MONDO:MONDO:0015000,MedGen:C4310637,OMIM:617276158334892483348924NC_000015.9:g.83348924C>G-
NM_001278512.2(AP3B2):c.1110+1G>C8120AP3B2Likely pathogenic1057519270RCV000415589|RCV000824907; NMONDO:MONDO:0015000,MedGen:C4310637,OMIM:617276|Human Phenotype Ontology:HP:0200134,MedGen:C0543888158334892683348926NC_000015.9:g.83348926C>GClinGen:CA16043936,OMIM:602166.0002C4310637 617276 Epileptic encephalopathy, early infantile, 48;
NM_001278512.2(AP3B2):c.940C>T (p.Gln314Ter)8120AP3B2Pathogenic1215589381RCV001333281; NMONDO:MONDO:0015000,MedGen:C4310637,OMIM:61727615833493398334933983349339-
NM_001278512.2(AP3B2):c.881A>C (p.Lys294Thr)8120AP3B2Uncertain significance200983489RCV000995407|RCV001270044|RCV003141915; NMedGen:C3661900|10 conditions|MONDO:MONDO:0015000,MedGen:C4310637,OMIM:61727615833493988334939815:g.83349398T>G-
NM_001278512.2(AP3B2):c.674_675del (p.Leu224_Cys225insTer)8120AP3B2Likely pathogenic1481189891RCV000984513; NMONDO:MONDO:0015000,MedGen:C4310637,OMIM:61727615833496858334968615:g.83349685_83349686del-
NM_001278512.2(AP3B2):c.641delinsATG (p.Ile214fs)8120AP3B2Pathogenic-1RCV003324120; NMONDO:MONDO:0015000,MedGen:C4310637,OMIM:617276158334971983349719-
NM_001278512.2(AP3B2):c.454G>T (p.Glu152Ter)8120AP3B2Likely pathogenic2151441655RCV001785950; NMONDO:MONDO:0015000,MedGen:C4310637,OMIM:61727615833502398335023983350239-
NM_001278512.2(AP3B2):c.445_448del (p.Ala149fs)8120AP3B2Pathogenic1369308468RCV001678595|RCV001859434; NMONDO:MONDO:0015000,MedGen:C4310637,OMIM:617276|MedGen:C366190015833502458335024883350244-
NM_001278512.2(AP3B2):c.392_394del (p.Leu131del)8120AP3B2Likely pathogenic1596183293RCV000989366; NMONDO:MONDO:0015000,MedGen:C4310637,OMIM:61727615833502998335030115:g.83350299_83350301del-
NM_001278512.2(AP3B2):c.360+7G>A8120AP3B2Uncertain significance1469176151RCV001591658; NMONDO:MONDO:0015000,MedGen:C4310637,OMIM:61727615833574818335748183357481-
NM_001278512.2(AP3B2):c.199C>T (p.Arg67Ter)8120AP3B2Pathogenic775024756RCV000415580; NMONDO:MONDO:0015000,MedGen:C4310637,OMIM:61727615833579758335797515:g.83357975G>AClinGen:CA7700563,OMIM:602166.0005C4310637 617276 Epileptic encephalopathy, early infantile, 48;
NM_001278512.2(AP3B2):c.93C>T (p.Ile31=)8120AP3B2Benign/Likely benign200226421RCV002132492|RCV002500043; NMedGen:C3661900|MONDO:MONDO:0015000,MedGen:C4310637,OMIM:61727615833783668337836683378366-
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