EIEE17
MCID: EPL119
MIFTS: 32

Epileptic Encephalopathy, Early Infantile, 17 (EIEE17)

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 17

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 17:

Name: Epileptic Encephalopathy, Early Infantile, 17 58 76 74
Early Infantile Epileptic Encephalopathy 17 12 30 6 15
Eiee17 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
onset in early infancy


HPO:

33
epileptic encephalopathy, early infantile, 17:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 17

OMIM : 58 Early infantile epileptic encephalopathy-17 is a severe neurologic disorder characterized by onset of intractable seizures in the first weeks or months of life and usually associated with EEG abnormalities. Affected infants have very poor psychomotor development and may have brain abnormalities, such as cerebral atrophy or thin corpus callosum. Some patients may show involuntary movements (summary by Nakamura et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (308350). (615473)

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 17, also known as early infantile epileptic encephalopathy 17, is related to partington x-linked mental retardation syndrome and x-linked non-specific intellectual disability, and has symptoms including tonic seizures An important gene associated with Epileptic Encephalopathy, Early Infantile, 17 is GNAO1 (G Protein Subunit Alpha O1), and among its related pathways/superpathways are Neuroscience and Ectoderm Differentiation. Affiliated tissues include brain, and related phenotypes are chorea and dystonia

Disease Ontology : 12 An early infantile epileptic encephalopathy characterized by onset in the first weeks or months of life of intractable seizures and very poor psychomotor development that has material basis in heterozygous mutation in the GNAO1 gene on chromosome 16q13.

UniProtKB/Swiss-Prot : 76 Epileptic encephalopathy, early infantile, 17: A severe neurologic disorder characterized by onset of intractable seizures in the first weeks or months of life and usually associated with EEG abnormalities. Affected infants have very poor psychomotor development and may have brain abnormalities, such as cerebral atrophy or thin corpus callosum. Some patients may show involuntary movements.

Related Diseases for Epileptic Encephalopathy, Early Infantile, 17

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

Diseases related to Epileptic Encephalopathy, Early Infantile, 17 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 partington x-linked mental retardation syndrome 9.8 ARX MECP2
2 x-linked non-specific intellectual disability 9.7 ARX MECP2
3 neonatal period electroclinical syndrome 9.7 ARX GNAO1
4 specific developmental disorder 9.7 ARX MECP2
5 epilepsy 9.7 ARX MECP2
6 west syndrome 9.6 ARX MECP2
7 early infantile epileptic encephalopathy 9.4 ARX GNAO1
8 encephalopathy 9.4 ARX GNAO1 MECP2

Graphical network of the top 20 diseases related to Epileptic Encephalopathy, Early Infantile, 17:



Diseases related to Epileptic Encephalopathy, Early Infantile, 17

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 17

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 17:

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 chorea 33 occasional (7.5%) HP:0002072
2 dystonia 33 occasional (7.5%) HP:0001332
3 athetosis 33 occasional (7.5%) HP:0002305
4 global developmental delay 33 HP:0001263
5 absent speech 33 HP:0001344
6 hypoplasia of the corpus callosum 33 HP:0002079
7 cerebral atrophy 33 HP:0002059
8 hypsarrhythmia 33 HP:0002521
9 generalized tonic seizures 33 HP:0010818
10 epileptic encephalopathy 33 HP:0200134
11 delayed myelination 33 HP:0012448

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
cerebral atrophy
hypsarrhythmia
epileptic encephalopathy
delayed myelination
tonic seizures
more

Clinical features from OMIM:

615473

UMLS symptoms related to Epileptic Encephalopathy, Early Infantile, 17:


tonic seizures

MGI Mouse Phenotypes related to Epileptic Encephalopathy, Early Infantile, 17:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.33 ARX GNAO1 MECP2
2 integument MP:0010771 9.13 ARX GNAO1 MECP2
3 reproductive system MP:0005389 8.8 ARX GNAO1 MECP2

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 17

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 17

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 17

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 17:

# Genetic test Affiliating Genes
1 Early Infantile Epileptic Encephalopathy 17 30 GNAO1

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 17

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 17:

42
Brain

Publications for Epileptic Encephalopathy, Early Infantile, 17

Variations for Epileptic Encephalopathy, Early Infantile, 17

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 17:

76
# Symbol AA change Variation ID SNP ID
1 GNAO1 p.Asp174Gly VAR_070864 rs587777055
2 GNAO1 p.Gly203Arg VAR_070866 rs587777057
3 GNAO1 p.Ile279Asn VAR_070867 rs587777054
4 GNAO1 p.Gly40Arg VAR_075416 rs886041715
5 GNAO1 p.Arg209Cys VAR_077337 rs886039494

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 17:

6 (show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 GNAO1 NM_020988.2(GNAO1): c.680C> T (p.Ala227Val) single nucleotide variant Pathogenic/Likely pathogenic rs797045599 GRCh37 Chromosome 16, 56370729: 56370729
2 GNAO1 NM_020988.2(GNAO1): c.680C> T (p.Ala227Val) single nucleotide variant Pathogenic/Likely pathogenic rs797045599 GRCh38 Chromosome 16, 56336817: 56336817
3 GNAO1 NM_020988.2(GNAO1): c.836T> A (p.Ile279Asn) single nucleotide variant Pathogenic rs587777054 GRCh37 Chromosome 16, 56385408: 56385408
4 GNAO1 NM_020988.2(GNAO1): c.836T> A (p.Ile279Asn) single nucleotide variant Pathogenic rs587777054 GRCh38 Chromosome 16, 56351496: 56351496
5 GNAO1 NM_020988.2(GNAO1): c.521A> G (p.Asp174Gly) single nucleotide variant Pathogenic rs587777055 GRCh37 Chromosome 16, 56368697: 56368697
6 GNAO1 NM_020988.2(GNAO1): c.521A> G (p.Asp174Gly) single nucleotide variant Pathogenic rs587777055 GRCh38 Chromosome 16, 56334785: 56334785
7 GNAO1 NM_020988.2(GNAO1): c.572_592del21 (p.Thr191_Phe197del) deletion Pathogenic rs587777056 GRCh37 Chromosome 16, 56368748: 56368768
8 GNAO1 NM_020988.2(GNAO1): c.572_592del21 (p.Thr191_Phe197del) deletion Pathogenic rs587777056 GRCh38 Chromosome 16, 56334836: 56334856
9 GNAO1 NM_020988.2(GNAO1): c.607G> A (p.Gly203Arg) single nucleotide variant Pathogenic rs587777057 GRCh37 Chromosome 16, 56370656: 56370656
10 GNAO1 NM_020988.2(GNAO1): c.607G> A (p.Gly203Arg) single nucleotide variant Pathogenic rs587777057 GRCh38 Chromosome 16, 56336744: 56336744
11 GNAO1 NM_138736.2(GNAO1): c.692A> G (p.Tyr231Cys) single nucleotide variant Pathogenic rs1057518678 GRCh37 Chromosome 16, 56370741: 56370741
12 GNAO1 NM_138736.2(GNAO1): c.692A> G (p.Tyr231Cys) single nucleotide variant Pathogenic rs1057518678 GRCh38 Chromosome 16, 56336829: 56336829
13 GNAO1 NM_138736.2(GNAO1): c.626G> T (p.Arg209Leu) single nucleotide variant Pathogenic/Likely pathogenic rs797044878 GRCh37 Chromosome 16, 56370675: 56370675
14 GNAO1 NM_138736.2(GNAO1): c.626G> T (p.Arg209Leu) single nucleotide variant Pathogenic/Likely pathogenic rs797044878 GRCh38 Chromosome 16, 56336763: 56336763
15 GNAO1 NM_020988.2(GNAO1): c.143C> T (p.Thr48Ile) single nucleotide variant Likely pathogenic rs1555499800 GRCh38 Chromosome 16, 56192598: 56192598
16 GNAO1 NM_020988.2(GNAO1): c.143C> T (p.Thr48Ile) single nucleotide variant Likely pathogenic rs1555499800 GRCh37 Chromosome 16, 56226510: 56226510
17 GNAO1 NM_138736.2(GNAO1): c.901G> C (p.Val301Leu) single nucleotide variant Uncertain significance rs539641021 GRCh38 Chromosome 16, 56343786: 56343786
18 GNAO1 NM_138736.2(GNAO1): c.901G> C (p.Val301Leu) single nucleotide variant Uncertain significance rs539641021 GRCh37 Chromosome 16, 56377698: 56377698
19 GNAO1 NM_020988.2(GNAO1): c.851T> C (p.Leu284Ser) single nucleotide variant Pathogenic rs1555508316 GRCh38 Chromosome 16, 56351511: 56351511
20 GNAO1 NM_020988.2(GNAO1): c.851T> C (p.Leu284Ser) single nucleotide variant Pathogenic rs1555508316 GRCh37 Chromosome 16, 56385423: 56385423

Expression for Epileptic Encephalopathy, Early Infantile, 17

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 17.

Pathways for Epileptic Encephalopathy, Early Infantile, 17

Pathways related to Epileptic Encephalopathy, Early Infantile, 17 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.49 GNAO1 MECP2
2 10.78 ARX MECP2

GO Terms for Epileptic Encephalopathy, Early Infantile, 17

Biological processes related to Epileptic Encephalopathy, Early Infantile, 17 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuron projection development GO:0031175 8.96 GNAO1 MECP2
2 forebrain development GO:0030900 8.62 ARX GNAO1

Sources for Epileptic Encephalopathy, Early Infantile, 17

3 CDC
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10 dbSNP
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17 EFO
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45 MeSH
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63 PubMed
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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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