DEE88
MCID: DVL110
MIFTS: 20

Developmental and Epileptic Encephalopathy 88 (DEE88)

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 88

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 88:

Name: Developmental and Epileptic Encephalopathy 88 57 12
Epileptic Encephalopathy, Early Infantile, 88 57 72
Eiee88 57 72
Dee88 57 12
Epileptic Encephalopathy, Early Infantile, 88; Eiee88 57
Developmental and Epileptic Encephalopathy, 88 6
Early Infantile Epileptic Encephalopathy 88 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
based on a report of 2 first cousins from a consanguineous saudi family (last curated july 2020)


HPO:

31
developmental and epileptic encephalopathy 88:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Developmental and Epileptic Encephalopathy 88

OMIM® : 57 Developmental and epileptic encephalopathy-88 (DEE88) is an autosomal recessive severe neurologic disorder characterized by global developmental delay, early-onset epilepsy, and progressive microcephaly. Brain MRI findings may include corpus callosum abnormalities, prominent ventricles, and mild hypoplasia of the inferior vermis and pons (Broeks et al., 2019). For a discussion of genetic heterogeneity of developmental and epileptic encephalopathy, see 308350. (618959) (Updated 05-Apr-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 88, is also known as epileptic encephalopathy, early infantile, 88. An important gene associated with Developmental and Epileptic Encephalopathy 88 is MDH1 (Malate Dehydrogenase 1). Affiliated tissues include pons, and related phenotypes are global developmental delay and depressed nasal bridge

Disease Ontology : 12 A developmental and epileptic encephalopathy that has material basis in homozygous or compound heterozygous mutation in MDH1 on chromosome 2p15.

UniProtKB/Swiss-Prot : 72 Epileptic encephalopathy, early infantile, 88: A form of epileptic encephalopathy, a heterogeneous group of severe early-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. EIEE88 is an autosomal recessive severe form characterized by global developmental delay, epilepsy, and progressive microcephaly.

Related Diseases for Developmental and Epileptic Encephalopathy 88

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 91 Developmental and Epileptic Encephalopathy 57
Developmental and Epileptic Encephalopathy 92 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 93
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 88

Human phenotypes related to Developmental and Epileptic Encephalopathy 88:

31 (showing 16, show less)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 HP:0001263
2 depressed nasal bridge 31 HP:0005280
3 hypertonia 31 HP:0001276
4 everted lower lip vermilion 31 HP:0000232
5 growth delay 31 HP:0001510
6 high forehead 31 HP:0000348
7 infra-orbital crease 31 HP:0100876
8 partial agenesis of the corpus callosum 31 HP:0001338
9 muscular hypotonia of the trunk 31 HP:0008936
10 hypoplasia of the pons 31 HP:0012110
11 hypsarrhythmia 31 HP:0002521
12 epileptic encephalopathy 31 HP:0200134
13 inferior vermis hypoplasia 31 HP:0007068
14 progressive microcephaly 31 HP:0000253
15 seizure 31 HP:0001250
16 hyperglutamatemia 31 HP:0500149

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Face:
frontal bossing

Head And Neck Nose:
depressed nasal bridge
bulbous nose

Head And Neck Mouth:
micrognathia
everted lower lip

Head And Neck Eyes:
deep-set eyes

Growth Weight:
poor weight gain

Neurologic Central Nervous System:
global developmental delay
hypogenesis of the corpus callosum
hypsarrhythmia seen on eeg (1 patient)
hypoplastic inferior vermis
pontine hypoplasia (mild)

Head And Neck Head:
microcephaly
plagiocephaly

Muscle Soft Tissue:
central hypotonia
axial hypertonia

Growth Height:
poor growth

Metabolic Features:
absence of lactic acidosis

Clinical features from OMIM®:

618959 (Updated 05-Apr-2021)

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 88

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 88

Genetic Tests for Developmental and Epileptic Encephalopathy 88

Anatomical Context for Developmental and Epileptic Encephalopathy 88

MalaCards organs/tissues related to Developmental and Epileptic Encephalopathy 88:

40
Pons

Publications for Developmental and Epileptic Encephalopathy 88

Articles related to Developmental and Epileptic Encephalopathy 88:

(showing 1, show less)
# Title Authors PMID Year
1
MDH1 deficiency is a metabolic disorder of the malate-aspartate shuttle associated with early onset severe encephalopathy. 57 6
31538237 2019

Variations for Developmental and Epileptic Encephalopathy 88

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 88:

6 (showing 1, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MDH1 NM_005917.4(MDH1):c.359C>T (p.Ala120Val) SNV Pathogenic 973504 GRCh37: 2:63824692-63824692
GRCh38: 2:63597558-63597558

UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 88:

72 (showing 1, show less)
# Symbol AA change Variation ID SNP ID
1 MDH1 p.Ala120Val VAR_083894

Expression for Developmental and Epileptic Encephalopathy 88

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 88.

Pathways for Developmental and Epileptic Encephalopathy 88

GO Terms for Developmental and Epileptic Encephalopathy 88

Sources for Developmental and Epileptic Encephalopathy 88

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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