MCID: EPL178
MIFTS: 23

Epileptic Encephalopathy, Early Infantile, 51

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 51

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

Name: Epileptic Encephalopathy, Early Infantile, 51 57 75 29 6
Eiee51 57 75

Characteristics:

OMIM:

57
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:

32
epileptic encephalopathy, early infantile, 51:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 51

OMIM : 57 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 strabismus and rod-cone dystrophy

UniProtKB/Swiss-Prot : 75 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 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, 25
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
Infantile Epileptic Encephalopathy 56 Infantile Epileptic Encephalopathy 55
Infantile Epileptic Encephalopathy 57 Infantile Epileptic Encephalopathy 58
Infantile Epileptic Encephalopathy 59

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 51

Symptoms via clinical synopsis from OMIM:

57
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
cerebellar atrophy
hypoplasia of the corpus callosum
epileptic encephalopathy
more
Head And Neck Head:
poor head control

Chest Breasts:
supernumerary nipples (1 patient)


Clinical features from OMIM:

617339

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

32 (show all 20)
# Description HPO Frequency HPO Source Accession
1 strabismus 32 HP:0000486
2 rod-cone dystrophy 32 occasional (7.5%) HP:0000510
3 seizures 32 HP:0001250
4 global developmental delay 32 HP:0001263
5 hyporeflexia 32 occasional (7.5%) HP:0001265
6 cerebellar atrophy 32 HP:0001272
7 absent speech 32 HP:0001344
8 failure to thrive 32 HP:0001508
9 constipation 32 HP:0002019
10 hypoplasia of the corpus callosum 32 HP:0002079
11 increased serum lactate 32 HP:0002151
12 poor head control 32 HP:0002421
13 increased csf lactate 32 HP:0002490
14 inability to walk 32 HP:0002540
15 supernumerary nipple 32 occasional (7.5%) HP:0002558
16 skeletal muscle atrophy 32 HP:0003202
17 babinski sign 32 occasional (7.5%) HP:0003487
18 feeding difficulties 32 HP:0011968
19 delayed myelination 32 HP:0012448
20 epileptic encephalopathy 32 HP:0200134

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 29 MDH2

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 51

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

41
Brain, Liver, Skeletal Muscle

Publications for Epileptic Encephalopathy, Early Infantile, 51

Variations for Epileptic Encephalopathy, Early Infantile, 51

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

75
# 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 rs1057519566Epileptic

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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10 dbSNP
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17 ExPASy
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31 HMDB
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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