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Parent Node:
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Spasms, Infantile (D013036)
..Starting node
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EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51 (OMIM:617339)

       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:4332
Name:EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51
Definition:
Alternative IDs:
ParentIDs:MESH:D013036
TreeNumbers:C10.228.140.490.375.760/617339 |C10.228.140.490.493.875/617339
Synonyms:EIEE51
Slim Mappings:Nervous system disease
Reference: MedGen: 617339
MeSH: 617339
OMIM: 617339;
MSeqDR LSDB:  
Genes: PLA2G5;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001344Absent speech
3 HP:0003487Babinski signHP:0040283
4 HP:0001272Cerebellar atrophy
5 HP:0002019Constipation
6 HP:0012448Delayed myelination
7 HP:0200134Epileptic encephalopathy
8 HP:0001508Failure to thrive
9 HP:0011968Feeding difficulties
10 HP:0001263Global developmental delay
NAMDC:  Mental retardation
11 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
12 HP:0002079Hypoplasia of the corpus callosum
13 HP:0001265HyporeflexiaHP:0040283
14 HP:0002540Inability to walk
15 HP:0002490Increased CSF lactate
16 HP:0002151Increased serum lactate
17 HP:0002421Poor head control
18 HP:0000510Rod-cone dystrophyHP:0040283
19 HP:0001250Seizures
NAMDC:  Seizures
20 HP:0003202Skeletal muscle atrophy
21 HP:0000486Strabismus
22 HP:0002558Supernumerary nippleHP:0040283
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_005918.4(MDH2):c.109G>A (p.Gly37Arg)4191MDH2Pathogenicrs782308462RCV000417051; NMONDO:MONDO:0015025,MedGen:C4479208,OMIM:61733977568419075684190GA7:g.75684190G>AClinGen:CA4305423,OMIM:154100.0004,ClinVar:427831C4479208 617339 Epileptic encephalopathy, early infantile, 51;
NM_005918.4(MDH2):c.398C>T (p.Pro133Leu)4191MDH2Pathogenicrs375002796RCV000417053|RCV000496989; NMONDO:MONDO:0015025,MedGen:C4479208,OMIM:617339|Human Phenotype Ontology:HP:0006948,Human Phenotype Ontology:HP:0007105,Human Phenotype Ontology:HP:0007309,Human Phenotype Ontology:HP:0007353,MedGen:C185640877568736575687365CT7:g.75687365C>TClinVar:427831,ClinGen:CA4305516,OMIM:154100.0001C4479208 617339 Epileptic encephalopathy, early infantile, 51;
NM_005918.4(MDH2):c.596del (p.Gly199fs)4191MDH2Pathogenicrs1057519567RCV000417042|RCV000509017; NMONDO:MONDO:0015025,MedGen:C4479208,OMIM:617339|Human Phenotype Ontology:HP:0006948,Human Phenotype Ontology:HP:0007105,Human Phenotype Ontology:HP:0007309,Human Phenotype Ontology:HP:0007353,MedGen:C185640877569287275692872TGT7:g.75692872_75692872delClinGen:CA16044164,OMIM:154100.0003
NM_005918.4(MDH2):c.620C>T (p.Pro207Leu)4191MDH2Pathogenicrs1057519566RCV000417059|RCV000496994; NMONDO:MONDO:0015025,MedGen:C4479208,OMIM:617339|Human Phenotype Ontology:HP:0006948,Human Phenotype Ontology:HP:0007105,Human Phenotype Ontology:HP:0007309,Human Phenotype Ontology:HP:0007353,MedGen:C185640877569289775692897CT7:g.75692897C>TClinGen:CA16044163,OMIM:154100.0002C4479208 617339 Epileptic encephalopathy, early infantile, 51;
NM_005918.4(MDH2):c.686G>A (p.Arg229Gln)4191MDH2Uncertain significance-1RCV001263005; NMONDO:MONDO:0015025,MedGen:C4479208,OMIM:61733977569370975693709GA7:g.75693709G>A-
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