EIEE51
MCID: EPL178
MIFTS: 25

Epileptic Encephalopathy, Early Infantile, 51 (EIEE51)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 51

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 51:

Name: Epileptic Encephalopathy, Early Infantile, 51 58 76 30 6
Eiee51 58 76
Early Infantile Epileptic Encephalopathy 51 12

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in neonatal period or first months of life
three unrelated patients have been reported (last curated february 2017)
one patient died in early childhood


HPO:

33
epileptic encephalopathy, early infantile, 51:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 51

OMIM : 58 Early infantile epileptic encephalopathy-51 is an autosomal recessive severe neurodevelopmental disorder characterized by onset of intractable seizures and hypotonia in the first days or weeks of life. Affected individuals have severely delayed psychomotor development and may show abnormal movements. Brain imaging shows nonspecific abnormalities, such as cerebral atrophy, cerebellar atrophy, and delayed myelination. Laboratory studies showed increased lactate, suggesting mitochondrial dysfunction (summary by Ait-El-Mkadem et al., 2017). For a discussion of genetic heterogeneity of EIEE, see 308350. (617339)

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 51, is also known as eiee51. An important gene associated with Epileptic Encephalopathy, Early Infantile, 51 is MDH2 (Malate Dehydrogenase 2). Affiliated tissues include brain, liver and skeletal muscle, and related phenotypes are babinski sign and hyporeflexia

Disease Ontology : 12 An early infantile epileptic encephalopathy characterized by onset of intractable seizures and hypotonia in the first days or weeks of life that has material basis in homozygous or compound heterozygous mutation in the MDH2 gene on chromosome 7q11.

UniProtKB/Swiss-Prot : 76 Epileptic encephalopathy, early infantile, 51: A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE51 is an autosomal recessive form characterized by onset of intractable seizures and hypotonia in the first days or weeks of life, and severely delayed psychomotor development.

Related Diseases for Epileptic Encephalopathy, Early Infantile, 51

Diseases in the Early Infantile Epileptic Encephalopathy family:

Epileptic Encephalopathy, Early Infantile, 9 Epileptic Encephalopathy, Early Infantile, 8
Epileptic Encephalopathy, Early Infantile, 2 Epileptic Encephalopathy, Early Infantile, 36
Epileptic Encephalopathy, Early Infantile, 1 Epileptic Encephalopathy, Early Infantile, 6
Epileptic Encephalopathy, Early Infantile, 3 Epileptic Encephalopathy, Early Infantile, 4
Epileptic Encephalopathy, Early Infantile, 39 Epileptic Encephalopathy, Early Infantile, 5
Epileptic Encephalopathy, Early Infantile, 7 Epileptic Encephalopathy, Early Infantile, 11
Epileptic Encephalopathy, Early Infantile, 12 Epileptic Encephalopathy, Early Infantile, 13
Epileptic Encephalopathy, Early Infantile, 14 Epileptic Encephalopathy, Early Infantile, 15
Epileptic Encephalopathy, Early Infantile, 16 Epileptic Encephalopathy, Early Infantile, 17
Epileptic Encephalopathy, Early Infantile, 18 Epileptic Encephalopathy, Early Infantile, 19
Epileptic Encephalopathy, Early Infantile, 21 Epileptic Encephalopathy, Early Infantile, 23
Epileptic Encephalopathy, Early Infantile, 24 Epileptic Encephalopathy, Early Infantile, 26
Epileptic Encephalopathy, Early Infantile, 27 Epileptic Encephalopathy, Early Infantile, 28
Epileptic Encephalopathy, Early Infantile, 29 Epileptic Encephalopathy, Early Infantile, 30
Epileptic Encephalopathy, Early Infantile, 31 Epileptic Encephalopathy, Early Infantile, 32
Epileptic Encephalopathy, Early Infantile, 33 Epileptic Encephalopathy, Early Infantile, 50
Epileptic Encephalopathy, Early Infantile, 34 Epileptic Encephalopathy, Early Infantile, 35
Epileptic Encephalopathy, Early Infantile, 37 Epileptic Encephalopathy, Early Infantile, 38
Epileptic Encephalopathy, Early Infantile, 40 Epileptic Encephalopathy, Early Infantile, 41
Epileptic Encephalopathy, Early Infantile, 42 Epileptic Encephalopathy, Early Infantile, 43
Epileptic Encephalopathy, Early Infantile, 44 Epileptic Encephalopathy, Early Infantile, 45
Epileptic Encephalopathy, Early Infantile, 46 Epileptic Encephalopathy, Early Infantile, 47
Epileptic Encephalopathy, Early Infantile, 48 Epileptic Encephalopathy, Early Infantile, 49
Epileptic Encephalopathy, Early Infantile, 51 Epileptic Encephalopathy, Early Infantile, 52
Epileptic Encephalopathy, Early Infantile, 53 Epileptic Encephalopathy, Early Infantile, 54
Epileptic Encephalopathy, Early Infantile, 55 Epileptic Encephalopathy, Early Infantile, 56
Epileptic Encephalopathy, Early Infantile, 57 Epileptic Encephalopathy, Early Infantile, 58
Epileptic Encephalopathy, Early Infantile, 59 Epileptic Encephalopathy, Early Infantile, 60
Epileptic Encephalopathy, Early Infantile, 61 Epileptic Encephalopathy, Early Infantile, 62
Epileptic Encephalopathy, Early Infantile, 63 Epileptic Encephalopathy, Early Infantile, 64
Epileptic Encephalopathy, Early Infantile, 65 Epileptic Encephalopathy, Early Infantile, 66
Epileptic Encephalopathy, Early Infantile, 67 Epileptic Encephalopathy, Early Infantile, 68
Epileptic Encephalopathy, Early Infantile, 69 Epileptic Encephalopathy, Early Infantile, 70
Epileptic Encephalopathy, Early Infantile, 71 Epileptic Encephalopathy, Early Infantile, 72
Epileptic Encephalopathy, Early Infantile, 73 Epileptic Encephalopathy, Early Infantile, 74

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 51

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 51:

33 (show all 21)
# Description HPO Frequency HPO Source Accession
1 babinski sign 33 occasional (7.5%) HP:0003487
2 hyporeflexia 33 occasional (7.5%) HP:0001265
3 rod-cone dystrophy 33 occasional (7.5%) HP:0000510
4 supernumerary nipple 33 occasional (7.5%) HP:0002558
5 seizures 33 HP:0001250
6 failure to thrive 33 HP:0001508
7 constipation 33 HP:0002019
8 global developmental delay 33 HP:0001263
9 skeletal muscle atrophy 33 HP:0003202
10 feeding difficulties 33 HP:0011968
11 strabismus 33 HP:0000486
12 absent speech 33 HP:0001344
13 dystonia 33 HP:0001332
14 inability to walk 33 HP:0002540
15 increased serum lactate 33 HP:0002151
16 epileptic encephalopathy 33 HP:0200134
17 cerebellar atrophy 33 HP:0001272
18 hypoplasia of the corpus callosum 33 HP:0002079
19 poor head control 33 HP:0002421
20 increased csf lactate 33 HP:0002490
21 delayed myelination 33 HP:0012448

Symptoms via clinical synopsis from OMIM:

58
Growth Other:
failure to thrive

Head And Neck Eyes:
strabismus
retinitis pigmentosa (1 patient)

Laboratory Abnormalities:
increased serum lactate
increased csf lactate
variable and mild decrease in mitochondrial respiratory activity in muscle, liver, or fibroblasts (in some patients)
increased levels of fumarate or malate

Muscle Soft Tissue:
muscle atrophy
hypotonia, neonatal muscle weakness

Neurologic Peripheral Nervous System:
hyporeflexia (1 patient)

Abdomen Gastrointestinal:
constipation
poor feeding

Neurologic Central Nervous System:
absent speech
inability to walk
epileptic encephalopathy
cerebellar atrophy
hypoplasia of the corpus callosum
more
Head And Neck Head:
poor head control

Chest Breasts:
supernumerary nipples (1 patient)

Clinical features from OMIM:

617339

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 51

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 51

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 51

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 51:

# Genetic test Affiliating Genes
1 Epileptic Encephalopathy, Early Infantile, 51 30 MDH2

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 51

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 51:

42
Brain, Liver, Skeletal Muscle, Eye

Publications for Epileptic Encephalopathy, Early Infantile, 51

Articles related to Epileptic Encephalopathy, Early Infantile, 51:

# Title Authors Year
1
Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy. ( 27989324 )
2017

Variations for Epileptic Encephalopathy, Early Infantile, 51

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 51:

76
# Symbol AA change Variation ID SNP ID
1 MDH2 p.Gly37Arg VAR_078001 rs782308462
2 MDH2 p.Pro133Leu VAR_078002 rs375002796
3 MDH2 p.Pro207Leu VAR_078003 rs105751956

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 51:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MDH2 NM_005918.3(MDH2): c.398C> T (p.Pro133Leu) single nucleotide variant Pathogenic rs375002796 GRCh37 Chromosome 7, 75687365: 75687365
2 MDH2 NM_005918.3(MDH2): c.398C> T (p.Pro133Leu) single nucleotide variant Pathogenic rs375002796 GRCh38 Chromosome 7, 76058047: 76058047
3 MDH2 NM_005918.3(MDH2): c.620C> T (p.Pro207Leu) single nucleotide variant Pathogenic rs1057519566 GRCh37 Chromosome 7, 75692897: 75692897
4 MDH2 NM_005918.3(MDH2): c.620C> T (p.Pro207Leu) single nucleotide variant Pathogenic rs1057519566 GRCh38 Chromosome 7, 76063579: 76063579
5 MDH2 NM_005918.3(MDH2): c.596delG (p.Gly199Alafs) deletion Pathogenic rs1057519567 GRCh38 Chromosome 7, 76063555: 76063555
6 MDH2 NM_005918.3(MDH2): c.596delG (p.Gly199Alafs) deletion Pathogenic rs1057519567 GRCh37 Chromosome 7, 75692873: 75692873
7 MDH2 NM_005918.3(MDH2): c.109G> A (p.Gly37Arg) single nucleotide variant Pathogenic rs782308462 GRCh37 Chromosome 7, 75684190: 75684190
8 MDH2 NM_005918.3(MDH2): c.109G> A (p.Gly37Arg) single nucleotide variant Pathogenic rs782308462 GRCh38 Chromosome 7, 76054872: 76054872

Expression for Epileptic Encephalopathy, Early Infantile, 51

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 51.

Pathways for Epileptic Encephalopathy, Early Infantile, 51

GO Terms for Epileptic Encephalopathy, Early Infantile, 51

Sources for Epileptic Encephalopathy, Early Infantile, 51

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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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