EIEE56
MCID: EPL211
MIFTS: 21

Epileptic Encephalopathy, Early Infantile, 56 (EIEE56)

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 56

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 56:

Name: Epileptic Encephalopathy, Early Infantile, 56 57 75 29 6
Eiee56 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
onset in first year of life


HPO:

32
epileptic encephalopathy, early infantile, 56:
Onset and clinical course infantile onset


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 56

UniProtKB/Swiss-Prot : 75 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.

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 56, is also known as eiee56. An important gene associated with Epileptic Encephalopathy, Early Infantile, 56 is YWHAG (Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Gamma). Affiliated tissues include liver and eye, and related phenotypes are intellectual disability and ataxia

OMIM : 57 EIEE56 is a neurodevelopmental disorder characterized by early-onset seizures in most patients, followed by intellectual disability, 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 EIEE, see EIEE1 (308350). (617665)

Related Diseases for Epileptic Encephalopathy, Early Infantile, 56

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
Epileptic Encephalopathy, Early Infantile, 66 Epileptic Encephalopathy, Early Infantile, 67
Early Infantile Epileptic Encephalopathy 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, 56

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 56:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 ataxia 32 HP:0001251
3 eeg abnormality 32 HP:0002353
4 global developmental delay 32 HP:0001263
5 attention deficit hyperactivity disorder 32 HP:0007018
6 anxiety 32 HP:0000739
7 status epilepticus 32 HP:0002133
8 poor coordination 32 HP:0002370
9 obsessive-compulsive trait 32 HP:0008770
10 broad-based gait 32 HP:0002136

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 56

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 56

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 56

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 56:

# Genetic test Affiliating Genes
1 Epileptic Encephalopathy, Early Infantile, 56 29 YWHAG

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 56

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 56:

41
Liver, Eye

Publications for Epileptic Encephalopathy, Early Infantile, 56

Variations for Epileptic Encephalopathy, Early Infantile, 56

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 56:

75
# Symbol AA change Variation ID SNP ID
1 YWHAG p.Asp129Glu VAR_080226
2 YWHAG p.Arg132Cys VAR_080227

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 56:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 YWHAG NM_012479.3(YWHAG): c.394C> T (p.Arg132Cys) single nucleotide variant Likely pathogenic GRCh38 Chromosome 7, 76329927: 76329927
2 YWHAG NM_012479.3(YWHAG): c.394C> T (p.Arg132Cys) single nucleotide variant Likely pathogenic GRCh37 Chromosome 7, 75959244: 75959244
3 YWHAG NM_012479.3(YWHAG): c.44A> C (p.Glu15Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome 7, 76358765: 76358765
4 YWHAG NM_012479.3(YWHAG): c.44A> C (p.Glu15Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome 7, 75988082: 75988082
5 YWHAG NM_012479.3(YWHAG): c.387C> G (p.Asp129Glu) single nucleotide variant Likely pathogenic GRCh38 Chromosome 7, 76329934: 76329934
6 YWHAG NM_012479.3(YWHAG): c.387C> G (p.Asp129Glu) single nucleotide variant Likely pathogenic GRCh37 Chromosome 7, 75959251: 75959251
7 YWHAG NM_012479.3(YWHAG): c.398A> C (p.Tyr133Ser) single nucleotide variant Likely pathogenic GRCh38 Chromosome 7, 76329923: 76329923
8 YWHAG NM_012479.3(YWHAG): c.398A> C (p.Tyr133Ser) single nucleotide variant Likely pathogenic GRCh37 Chromosome 7, 75959240: 75959240
9 YWHAG NM_012479.3(YWHAG): c.148A> C (p.Lys50Gln) single nucleotide variant Uncertain significance GRCh38 Chromosome 7, 76330173: 76330173
10 YWHAG NM_012479.3(YWHAG): c.148A> C (p.Lys50Gln) single nucleotide variant Uncertain significance GRCh37 Chromosome 7, 75959490: 75959490

Expression for Epileptic Encephalopathy, Early Infantile, 56

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 56.

Pathways for Epileptic Encephalopathy, Early Infantile, 56

GO Terms for Epileptic Encephalopathy, Early Infantile, 56

Sources for Epileptic Encephalopathy, Early Infantile, 56

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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