DEE51
MCID: DVL075
MIFTS: 25

Developmental and Epileptic Encephalopathy 51 (DEE51)

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

Aliases & Classifications for Developmental and Epileptic Encephalopathy 51

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 51:

Name: Developmental and Epileptic Encephalopathy 51 57 12
Epileptic Encephalopathy, Early Infantile, 51 57 73 29 6
Eiee51 57 73
Dee51 57 12
Epileptic Encephalopathy, Early Infantile, 51; Eiee51 57
Early Infantile Epileptic Encephalopathy 51 12

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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:

31
developmental and epileptic encephalopathy 51:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Developmental and Epileptic Encephalopathy 51

OMIM® : 57 Developmental and epileptic encephalopathy-51 (DEE51) 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 DEE, see 308350. (617339) (Updated 05-Mar-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 51, is also known as epileptic encephalopathy, early infantile, 51. An important gene associated with Developmental and Epileptic Encephalopathy 51 is MDH2 (Malate Dehydrogenase 2). Affiliated tissues include skeletal muscle and liver, and related phenotypes are hyporeflexia and rod-cone dystrophy

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

UniProtKB/Swiss-Prot : 73 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 Developmental and Epileptic Encephalopathy 51

Diseases in the Developmental and Epileptic Encephalopathy family:

Developmental and Epileptic Encephalopathy 9 Developmental and Epileptic Encephalopathy 8
Developmental and Epileptic Encephalopathy 2 Developmental and Epileptic Encephalopathy 36
Developmental and Epileptic Encephalopathy 90 Developmental and Epileptic Encephalopathy 1
Developmental and Epileptic Encephalopathy 3 Developmental and Epileptic Encephalopathy 4
Developmental and Epileptic Encephalopathy 39 Developmental and Epileptic Encephalopathy 5
Developmental and Epileptic Encephalopathy 7 Developmental and Epileptic Encephalopathy 11
Developmental and Epileptic Encephalopathy 12 Developmental and Epileptic Encephalopathy 13
Developmental and Epileptic Encephalopathy 14 Developmental and Epileptic Encephalopathy 15
Developmental and Epileptic Encephalopathy 16 Developmental and Epileptic Encephalopathy 17
Developmental and Epileptic Encephalopathy 18 Developmental and Epileptic Encephalopathy 19
Developmental and Epileptic Encephalopathy 21 Developmental and Epileptic Encephalopathy 23
Developmental and Epileptic Encephalopathy 24 Developmental and Epileptic Encephalopathy 26
Developmental and Epileptic Encephalopathy 27 Developmental and Epileptic Encephalopathy 28
Developmental and Epileptic Encephalopathy 29 Developmental and Epileptic Encephalopathy 30
Developmental and Epileptic Encephalopathy 31 Developmental and Epileptic Encephalopathy 32
Developmental and Epileptic Encephalopathy 33 Developmental and Epileptic Encephalopathy 50
Developmental and Epileptic Encephalopathy 34 Developmental and Epileptic Encephalopathy 35
Developmental and Epileptic Encephalopathy 37 Developmental and Epileptic Encephalopathy 38
Developmental and Epileptic Encephalopathy 40 Developmental and Epileptic Encephalopathy 41
Developmental and Epileptic Encephalopathy 42 Developmental and Epileptic Encephalopathy 43
Developmental and Epileptic Encephalopathy 44 Developmental and Epileptic Encephalopathy 45
Developmental and Epileptic Encephalopathy 46 Developmental and Epileptic Encephalopathy 47
Developmental and Epileptic Encephalopathy 48 Developmental and Epileptic Encephalopathy 49
Developmental and Epileptic Encephalopathy 51 Developmental and Epileptic Encephalopathy 52
Developmental and Epileptic Encephalopathy 53 Developmental and Epileptic Encephalopathy 54
Developmental and Epileptic Encephalopathy 55 Developmental and Epileptic Encephalopathy 56
Developmental and Epileptic Encephalopathy 57 Developmental and Epileptic Encephalopathy 58
Developmental and Epileptic Encephalopathy 59 Developmental and Epileptic Encephalopathy 60
Developmental and Epileptic Encephalopathy 61 Developmental and Epileptic Encephalopathy 62
Developmental and Epileptic Encephalopathy 63 Developmental and Epileptic Encephalopathy 64
Developmental and Epileptic Encephalopathy 65 Developmental and Epileptic Encephalopathy 66
Developmental and Epileptic Encephalopathy 67 Developmental and Epileptic Encephalopathy 68
Developmental and Epileptic Encephalopathy 69 Developmental and Epileptic Encephalopathy 70
Developmental and Epileptic Encephalopathy 71 Developmental and Epileptic Encephalopathy 72
Developmental and Epileptic Encephalopathy 73 Developmental and Epileptic Encephalopathy 74
Developmental and Epileptic Encephalopathy 75 Developmental and Epileptic Encephalopathy 76
Developmental and Epileptic Encephalopathy 78 Developmental and Epileptic Encephalopathy 79
Developmental and Epileptic Encephalopathy 80 Developmental and Epileptic Encephalopathy 81
Developmental and Epileptic Encephalopathy 82 Developmental and Epileptic Encephalopathy 83
Developmental and Epileptic Encephalopathy 84 Developmental and Epileptic Encephalopathy 86
Developmental and Epileptic Encephalopathy 87 Developmental and Epileptic Encephalopathy 88
Developmental and Epileptic Encephalopathy 89

Symptoms & Phenotypes for Developmental and Epileptic Encephalopathy 51

Human phenotypes related to Developmental and Epileptic Encephalopathy 51:

31 (show all 21)
# Description HPO Frequency HPO Source Accession
1 hyporeflexia 31 occasional (7.5%) HP:0001265
2 rod-cone dystrophy 31 occasional (7.5%) HP:0000510
3 babinski sign 31 occasional (7.5%) HP:0003487
4 supernumerary nipple 31 occasional (7.5%) HP:0002558
5 failure to thrive 31 HP:0001508
6 constipation 31 HP:0002019
7 global developmental delay 31 HP:0001263
8 skeletal muscle atrophy 31 HP:0003202
9 strabismus 31 HP:0000486
10 absent speech 31 HP:0001344
11 increased serum lactate 31 HP:0002151
12 dystonia 31 HP:0001332
13 hypoplasia of the corpus callosum 31 HP:0002079
14 poor head control 31 HP:0002421
15 increased csf lactate 31 HP:0002490
16 feeding difficulties 31 HP:0011968
17 cerebellar atrophy 31 HP:0001272
18 inability to walk 31 HP:0002540
19 epileptic encephalopathy 31 HP:0200134
20 delayed myelination 31 HP:0012448
21 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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
hypoplasia of the corpus callosum
cerebellar atrophy
cerebral atrophy
inability to walk
more
Head And Neck Head:
poor head control

Chest Breasts:
supernumerary nipples (1 patient)

Clinical features from OMIM®:

617339 (Updated 05-Mar-2021)

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 51

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 51

Genetic Tests for Developmental and Epileptic Encephalopathy 51

Genetic tests related to Developmental and Epileptic Encephalopathy 51:

# Genetic test Affiliating Genes
1 Epileptic Encephalopathy, Early Infantile, 51 29 MDH2

Anatomical Context for Developmental and Epileptic Encephalopathy 51

MalaCards organs/tissues related to Developmental and Epileptic Encephalopathy 51:

40
Skeletal Muscle, Liver

Publications for Developmental and Epileptic Encephalopathy 51

Articles related to Developmental and Epileptic Encephalopathy 51:

# Title Authors PMID Year
1
Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy. 6 57
27989324 2017

Variations for Developmental and Epileptic Encephalopathy 51

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 51:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MDH2 NM_005918.4(MDH2):c.596del (p.Gly199fs) Deletion Pathogenic 266121 rs1057519567 7:75692872-75692872 7:76063554-76063554
2 MDH2 NM_005918.4(MDH2):c.109G>A (p.Gly37Arg) SNV Pathogenic 267277 rs782308462 7:75684190-75684190 7:76054872-76054872
3 MDH2 NM_005918.4(MDH2):c.398C>T (p.Pro133Leu) SNV Pathogenic 265769 rs375002796 7:75687365-75687365 7:76058047-76058047
4 MDH2 NM_005918.4(MDH2):c.620C>T (p.Pro207Leu) SNV Pathogenic 265770 rs1057519566 7:75692897-75692897 7:76063579-76063579
5 MDH2 NM_005918.4(MDH2):c.686G>A (p.Arg229Gln) SNV Uncertain significance 983138 7:75693709-75693709 7:76064391-76064391

UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 51:

73
# 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

Expression for Developmental and Epileptic Encephalopathy 51

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 51.

Pathways for Developmental and Epileptic Encephalopathy 51

GO Terms for Developmental and Epileptic Encephalopathy 51

Sources for Developmental and Epileptic Encephalopathy 51

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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