MCID: EPL211
MIFTS: 16

Epileptic Encephalopathy, Early Infantile, 56

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Mental diseases, Liver diseases, Metabolic diseases, Muscle diseases, Eye diseases, Fetal 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 6
Eiee56 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in first year of life
de novo mutation


Classifications:



External Ids:

OMIM 57 617665
MeSH 44 D013036

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).

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
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
Skeletal Spine:
scoliosis

Neurologic Behavioral Psychiatric Manifestations:
autistic features
attention deficit
anxiety
obsessive-compulsive traits

Neurologic Central Nervous System:
seizures, multiple types
delayed psychomotor development
intellectual disability
poor language
poor coordination
more

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

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:

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 Pathogenic GRCh38 Chromosome 7, 76329927: 76329927
2 YWHAG NM_012479.3(YWHAG): c.394C> T (p.Arg132Cys) single nucleotide variant Pathogenic GRCh37 Chromosome 7, 75959244: 75959244
3 YWHAG NM_012479.3(YWHAG): c.44A> C (p.Glu15Ala) single nucleotide variant Pathogenic GRCh38 Chromosome 7, 76358765: 76358765
4 YWHAG NM_012479.3(YWHAG): c.44A> C (p.Glu15Ala) single nucleotide variant Pathogenic GRCh37 Chromosome 7, 75988082: 75988082
5 YWHAG NM_012479.3(YWHAG): c.387C> G (p.Asp129Glu) single nucleotide variant Pathogenic GRCh38 Chromosome 7, 76329934: 76329934
6 YWHAG NM_012479.3(YWHAG): c.387C> G (p.Asp129Glu) single nucleotide variant Pathogenic GRCh37 Chromosome 7, 75959251: 75959251

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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