DEE56
MCID: DVL080
MIFTS: 25

Developmental and Epileptic Encephalopathy 56 (DEE56)

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 56

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 56:

Name: Developmental and Epileptic Encephalopathy 56 57 12
Developmental and Epileptic Encephalopathy, 56 29 6
Epileptic Encephalopathy, Early Infantile, 56 57 72
Eiee56 57 72
Dee56 57 12
Epileptic Encephalopathy, Early Infantile, 56; Eiee56 57
Early Infantile Epileptic Encephalopathy 56 12

Characteristics:

OMIM®:

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

Miscellaneous:
de novo mutation
onset in first year of life


HPO:

31
developmental and epileptic encephalopathy 56:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0080282
OMIM® 57 617665
OMIM Phenotypic Series 57 PS308350
MeSH 44 D013036

Summaries for Developmental and Epileptic Encephalopathy 56

OMIM® : 57 Developmental and epileptic encephalopathy-56 (DEE56) is a neurodevelopmental disorder characterized by early-onset seizures in most patients, followed by impaired intellectual development, variable behavioral abnormalities, and sometimes additional neurologic features, such as ataxia (summary by Guella et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. (617665) (Updated 05-Apr-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 56, is also known as developmental and epileptic encephalopathy, 56. An important gene associated with Developmental and Epileptic Encephalopathy 56 is YWHAG (Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Gamma). Affiliated tissues include cortex, and related phenotypes are intellectual disability and eeg abnormality

Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by early-onset seizures in most patients, intellectual disability, and variable behavioral abnormalities that has material basis in heterozygous mutation in the YWHAG gene on chromosome 7q11.

UniProtKB/Swiss-Prot : 72 Epileptic encephalopathy, early infantile, 56: 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. EIEE56 is an autosomal dominant condition.

Related Diseases for Developmental and Epileptic Encephalopathy 56

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 56

Human phenotypes related to Developmental and Epileptic Encephalopathy 56:

31 (showing 11, show less)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 eeg abnormality 31 HP:0002353
3 scoliosis 31 HP:0002650
4 ataxia 31 HP:0001251
5 global developmental delay 31 HP:0001263
6 attention deficit hyperactivity disorder 31 HP:0007018
7 anxiety 31 HP:0000739
8 broad-based gait 31 HP:0002136
9 status epilepticus 31 HP:0002133
10 poor coordination 31 HP:0002370
11 obsessive-compulsive trait 31 HP:0008770

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
intellectual disability
ataxia
status epilepticus
poor coordination
wide-based gait
more
Neurologic Behavioral Psychiatric Manifestations:
anxiety
autistic features
obsessive-compulsive traits
attention deficit

Skeletal Spine:
scoliosis

Clinical features from OMIM®:

617665 (Updated 05-Apr-2021)

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 56

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 56

Genetic Tests for Developmental and Epileptic Encephalopathy 56

Genetic tests related to Developmental and Epileptic Encephalopathy 56:

# Genetic test Affiliating Genes
1 Developmental and Epileptic Encephalopathy, 56 29 YWHAG

Anatomical Context for Developmental and Epileptic Encephalopathy 56

MalaCards organs/tissues related to Developmental and Epileptic Encephalopathy 56:

40
Cortex

Publications for Developmental and Epileptic Encephalopathy 56

Articles related to Developmental and Epileptic Encephalopathy 56:

(showing 6, show less)
# Title Authors PMID Year
1
De Novo Mutations in YWHAG Cause Early-Onset Epilepsy. 6 57
28777935 2017
2
De novo mutations in epileptic encephalopathies. 57 6
23934111 2013
3
Prevalence and architecture of de novo mutations in developmental disorders. 57
28135719 2017
4
Overexpression of the 14-3-3gamma protein in embryonic mice results in neuronal migration delay in the developing cerebral cortex. 57
27288018 2016
5
Ablation of the 14-3-3gamma Protein Results in Neuronal Migration Delay and Morphological Defects in the Developing Cerebral Cortex. 57
26297819 2016
6
Synaptic, transcriptional and chromatin genes disrupted in autism. 57
25363760 2014

Variations for Developmental and Epileptic Encephalopathy 56

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 56:

6 (showing 8, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 YWHAG NM_012479.4(YWHAG):c.451G>T (p.Glu151Ter) SNV Pathogenic 802325 rs1389455796 GRCh37: 7:75959187-75959187
GRCh38: 7:76329870-76329870
2 YWHAG NM_012479.4(YWHAG):c.395G>A (p.Arg132His) SNV Pathogenic 807723 rs1583981615 GRCh37: 7:75959243-75959243
GRCh38: 7:76329926-76329926
3 YWHAG NM_012479.4(YWHAG):c.394C>T (p.Arg132Cys) SNV Pathogenic/Likely pathogenic 438804 rs1554616628 GRCh37: 7:75959244-75959244
GRCh38: 7:76329927-76329927
4 YWHAG NM_012479.4(YWHAG):c.387C>G (p.Asp129Glu) SNV Likely pathogenic 438806 rs1554616630 GRCh37: 7:75959251-75959251
GRCh38: 7:76329934-76329934
5 YWHAG NM_012479.4(YWHAG):c.683A>T (p.Asp228Val) SNV Likely pathogenic 1027791 GRCh37: 7:75958955-75958955
GRCh38: 7:76329638-76329638
6 YWHAG NM_012479.4(YWHAG):c.398A>C (p.Tyr133Ser) SNV Conflicting interpretations of pathogenicity 549482 rs1554616627 GRCh37: 7:75959240-75959240
GRCh38: 7:76329923-76329923
7 YWHAG NM_012479.4(YWHAG):c.148A>C (p.Lys50Gln) SNV Uncertain significance 549487 rs1554616652 GRCh37: 7:75959490-75959490
GRCh38: 7:76330173-76330173
8 YWHAG NM_012479.4(YWHAG):c.44A>C (p.Glu15Ala) SNV Uncertain significance 438805 rs1554618767 GRCh37: 7:75988082-75988082
GRCh38: 7:76358765-76358765

UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 56:

72 (showing 2, show less)
# Symbol AA change Variation ID SNP ID
1 YWHAG p.Asp129Glu VAR_080226 rs155461663
2 YWHAG p.Arg132Cys VAR_080227 rs155461662

Expression for Developmental and Epileptic Encephalopathy 56

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 56.

Pathways for Developmental and Epileptic Encephalopathy 56

GO Terms for Developmental and Epileptic Encephalopathy 56

Sources for Developmental and Epileptic Encephalopathy 56

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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