DEE58
MCID: DVL082
MIFTS: 21

Developmental and Epileptic Encephalopathy 58 (DEE58)

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 58

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 58:

Name: Developmental and Epileptic Encephalopathy 58 57 12
Developmental and Epileptic Encephalopathy, 58 29 6
Epileptic Encephalopathy, Early Infantile, 58 57 73
Eiee58 57 73
Dee58 57 12
Epileptic Encephalopathy, Early Infantile, 58; Eiee58 57
Early Infantile Epileptic Encephalopathy 58 12

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
onset of seizures in the first days or months of life
four unrelated patients have been reported (last curated january 2018)


HPO:

31
developmental and epileptic encephalopathy 58:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Developmental and Epileptic Encephalopathy 58

OMIM® : 57 Developmental and epileptic encephalopathy-58 (DEE58) is a severe neurodevelopmental disorder characterized by the onset of infantile spasms and refractory seizures in the first days or months of life. Affected individuals have global developmental delay with impaired intellectual development, usually with absent speech and inability to walk. Additional features include optic atrophy with poor or absent visual fixation, hypotonia, feeding difficulties, and spasticity (summary by Hamdan et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. (617830) (Updated 05-Mar-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 58, is also known as developmental and epileptic encephalopathy, 58. An important gene associated with Developmental and Epileptic Encephalopathy 58 is NTRK2 (Neurotrophic Receptor Tyrosine Kinase 2). Related phenotypes are status epilepticus and postnatal microcephaly

Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of infantile spasms and refractory seizures, global developmental delay, and impaired intellectual development that has material basis in heterozygous mutation in the NTRK2 gene on chromosome 9q21.

UniProtKB/Swiss-Prot : 73 Epileptic encephalopathy, early infantile, 58: 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. EIEE58 is an autosomal dominant condition characterized by onset of refractory seizures in the first days or months of life.

Related Diseases for Developmental and Epileptic Encephalopathy 58

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 58

Human phenotypes related to Developmental and Epileptic Encephalopathy 58:

31 (show all 17)
# Description HPO Frequency HPO Source Accession
1 status epilepticus 31 very rare (1%) HP:0002133
2 postnatal microcephaly 31 very rare (1%) HP:0005484
3 delayed myelination 31 very rare (1%) HP:0012448
4 hyperreflexia 31 HP:0001347
5 nystagmus 31 HP:0000639
6 global developmental delay 31 HP:0001263
7 visual impairment 31 HP:0000505
8 optic atrophy 31 HP:0000648
9 stereotypy 31 HP:0000733
10 intellectual disability, severe 31 HP:0010864
11 absent speech 31 HP:0001344
12 feeding difficulties 31 HP:0011968
13 spastic diplegia 31 HP:0001264
14 generalized hypotonia 31 HP:0001290
15 inability to walk 31 HP:0002540
16 hypsarrhythmia 31 HP:0002521
17 epileptic encephalopathy 31 HP:0200134

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
spasticity
hyperreflexia
intellectual disability, severe
spastic diplegia
inability to walk
more
Abdomen Gastrointestinal:
feeding difficulties

Growth Other:
poor overall growth

Head And Neck Eyes:
nystagmus
visual impairment
optic nerve atrophy
poor visual fixation

Neurologic Behavioral Psychiatric Manifestations:
autistic features
stereotypic behaviors

Head And Neck Head:
microcephaly, acquired (in some patients)

Clinical features from OMIM®:

617830 (Updated 05-Mar-2021)

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 58

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 58

Genetic Tests for Developmental and Epileptic Encephalopathy 58

Genetic tests related to Developmental and Epileptic Encephalopathy 58:

# Genetic test Affiliating Genes
1 Developmental and Epileptic Encephalopathy, 58 29 NTRK2

Anatomical Context for Developmental and Epileptic Encephalopathy 58

Publications for Developmental and Epileptic Encephalopathy 58

Articles related to Developmental and Epileptic Encephalopathy 58:

# Title Authors PMID Year
1
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. 6 57
29100083 2017

Variations for Developmental and Epileptic Encephalopathy 58

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 58:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NTRK2 NM_006180.4(NTRK2):c.1301A>G (p.Tyr434Cys) SNV Pathogenic/Likely pathogenic 268204 rs886041091 9:87366905-87366905 9:84751990-84751990

Expression for Developmental and Epileptic Encephalopathy 58

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 58.

Pathways for Developmental and Epileptic Encephalopathy 58

GO Terms for Developmental and Epileptic Encephalopathy 58

Sources for Developmental and Epileptic Encephalopathy 58

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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