EIEE56
MCID: EPL211
MIFTS: 21

Epileptic Encephalopathy, Early Infantile, 56 (EIEE56)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic 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 58 76 30 6
Eiee56 58 76
Early Infantile Epileptic Encephalopathy 56 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
onset in first year of life


HPO:

33
epileptic encephalopathy, early infantile, 56:
Onset and clinical course infantile onset


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 56

UniProtKB/Swiss-Prot : 76 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). Related phenotypes are intellectual disability and ataxia

Disease Ontology : 12 An early infantile 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.

OMIM : 58 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 Early 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, 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 Epileptic Encephalopathy, Early Infantile, 68
Epileptic Encephalopathy, Early Infantile, 69 Epileptic Encephalopathy, Early Infantile, 70
Epileptic Encephalopathy, Early Infantile, 71

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 56

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

33 (show all 10)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 HP:0001249
2 ataxia 33 HP:0001251
3 eeg abnormality 33 HP:0002353
4 global developmental delay 33 HP:0001263
5 attention deficit hyperactivity disorder 33 HP:0007018
6 anxiety 33 HP:0000739
7 status epilepticus 33 HP:0002133
8 poor coordination 33 HP:0002370
9 obsessive-compulsive trait 33 HP:0008770
10 broad-based gait 33 HP:0002136

Symptoms via clinical synopsis from OMIM:

58
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

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 30 YWHAG

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 56

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:

76
# 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 rs1554616628 GRCh38 Chromosome 7, 76329927: 76329927
2 YWHAG NM_012479.3(YWHAG): c.394C> T (p.Arg132Cys) single nucleotide variant Likely pathogenic rs1554616628 GRCh37 Chromosome 7, 75959244: 75959244
3 YWHAG NM_012479.3(YWHAG): c.44A> C (p.Glu15Ala) single nucleotide variant Uncertain significance rs1554618767 GRCh38 Chromosome 7, 76358765: 76358765
4 YWHAG NM_012479.3(YWHAG): c.44A> C (p.Glu15Ala) single nucleotide variant Uncertain significance rs1554618767 GRCh37 Chromosome 7, 75988082: 75988082
5 YWHAG NM_012479.3(YWHAG): c.387C> G (p.Asp129Glu) single nucleotide variant Likely pathogenic rs1554616630 GRCh38 Chromosome 7, 76329934: 76329934
6 YWHAG NM_012479.3(YWHAG): c.387C> G (p.Asp129Glu) single nucleotide variant Likely pathogenic rs1554616630 GRCh37 Chromosome 7, 75959251: 75959251
7 YWHAG NM_012479.3(YWHAG): c.398A> C (p.Tyr133Ser) single nucleotide variant Likely pathogenic rs1554616627 GRCh38 Chromosome 7, 76329923: 76329923
8 YWHAG NM_012479.3(YWHAG): c.398A> C (p.Tyr133Ser) single nucleotide variant Likely pathogenic rs1554616627 GRCh37 Chromosome 7, 75959240: 75959240
9 YWHAG NM_012479.3(YWHAG): c.148A> C (p.Lys50Gln) single nucleotide variant Uncertain significance rs1554616652 GRCh38 Chromosome 7, 76330173: 76330173
10 YWHAG NM_012479.3(YWHAG): c.148A> C (p.Lys50Gln) single nucleotide variant Uncertain significance rs1554616652 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

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35 ICD10 via Orphanet
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
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72 TGDB
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75 UMLS via Orphanet
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