DEE17
MCID: DVL045
MIFTS: 33

Developmental and Epileptic Encephalopathy 17 (DEE17)

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 17

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 17:

Name: Developmental and Epileptic Encephalopathy 17 57 12
Early Infantile Epileptic Encephalopathy 17 12 29 6 15
Epileptic Encephalopathy, Early Infantile, 17 57 73
Eiee17 57 73
Dee17 57 12
Epileptic Encephalopathy, Early Infantile, 17; Eiee17 57
Encephalopathy, Epileptic, Early Infantile, Type 17 39

Characteristics:

OMIM®:

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

Miscellaneous:
de novo mutation
onset in early infancy


HPO:

31
developmental and epileptic encephalopathy 17:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080450
OMIM® 57 615473
OMIM Phenotypic Series 57 PS308350
MeSH 44 D013036

Summaries for Developmental and Epileptic Encephalopathy 17

OMIM® : 57 Developmental and epileptic encephalopathy-17 (DEE17) is a severe neurologic disorder characterized by onset of intractable seizures in the first weeks or months of life. EEG often shows a burst-suppression pattern consistent with a clinical diagnosis of Ohtahara syndrome. 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 DEE, see 308350. (615473) (Updated 05-Mar-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 17, also known as early infantile epileptic encephalopathy 17, is related to encephalopathy and gnao1 encephalopathy, and has symptoms including tonic seizures An important gene associated with Developmental and Epileptic Encephalopathy 17 is GNAO1 (G Protein Subunit Alpha O1), and among its related pathways/superpathways is Ectoderm Differentiation. Related phenotypes are chorea and dystonia

Disease Ontology : 12 A developmental and 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 : 73 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 Developmental and Epileptic Encephalopathy 17

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 57 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 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

Diseases related to Developmental and Epileptic Encephalopathy 17 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)
# Related Disease Score Top Affiliating Genes
1 encephalopathy 29.1 MECP2 GNAO1 ARX
2 gnao1 encephalopathy 11.4
3 partington x-linked mental retardation syndrome 9.7 MECP2 ARX
4 infancy electroclinical syndrome 9.7 MECP2 ARX
5 electroclinical syndrome 9.7 MECP2 ARX
6 neonatal period electroclinical syndrome 9.7 MECP2 ARX
7 congenital nervous system abnormality 9.7 MECP2 ARX
8 lennox-gastaut syndrome 9.7 MECP2 ARX
9 early myoclonic encephalopathy 9.6 MECP2 ARX
10 dravet syndrome 9.6 MECP2 ARX
11 non-syndromic x-linked intellectual disability 9.5 MECP2 ARX
12 west syndrome 9.4 MECP2 GNAO1 ARX
13 early infantile epileptic encephalopathy 9.4 MECP2 GNAO1 ARX
14 epilepsy 9.3 MECP2 GNAO1 ARX
15 microcephaly 9.1 MECP2 GNAO1 ARX

Graphical network of the top 20 diseases related to Developmental and Epileptic Encephalopathy 17:



Diseases related to Developmental and Epileptic Encephalopathy 17

Symptoms & Phenotypes for Developmental and Epileptic Encephalopathy 17

Human phenotypes related to Developmental and Epileptic Encephalopathy 17:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 chorea 31 occasional (7.5%) HP:0002072
2 dystonia 31 occasional (7.5%) HP:0001332
3 athetosis 31 occasional (7.5%) HP:0002305
4 global developmental delay 31 HP:0001263
5 absent speech 31 HP:0001344
6 hypoplasia of the corpus callosum 31 HP:0002079
7 cerebral atrophy 31 HP:0002059
8 hypsarrhythmia 31 HP:0002521
9 epileptic encephalopathy 31 HP:0200134
10 delayed myelination 31 HP:0012448
11 generalized tonic seizure 31 HP:0010818

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
cerebral atrophy
hypsarrhythmia
epileptic encephalopathy
delayed myelination
tonic seizures
more

Clinical features from OMIM®:

615473 (Updated 05-Mar-2021)

UMLS symptoms related to Developmental and Epileptic Encephalopathy 17:


tonic seizures

MGI Mouse Phenotypes related to Developmental and Epileptic Encephalopathy 17:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 8.92 ARX GNAO1 MECP2 TMEM11

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 17

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 17

Genetic Tests for Developmental and Epileptic Encephalopathy 17

Genetic tests related to Developmental and Epileptic Encephalopathy 17:

# Genetic test Affiliating Genes
1 Early Infantile Epileptic Encephalopathy 17 29 GNAO1

Anatomical Context for Developmental and Epileptic Encephalopathy 17

Publications for Developmental and Epileptic Encephalopathy 17

Articles related to Developmental and Epileptic Encephalopathy 17:

# Title Authors PMID Year
1
Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay. 6 57
25966631 2016
2
De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy. 57 6
23993195 2013
3
Movement disorder in GNAO1 encephalopathy associated with gain-of-function mutations. 6
28747448 2017
4
Gain-of-function mutation in Gnao1: a murine model of epileptiform encephalopathy (EIEE17)? 57
24700286 2014
5
A mechanistic review on GNAO1-associated movement disorder. 61
29758257 2018
6
Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test results. 61
29961512 2018
7
GNAO1 encephalopathy: further delineation of a severe neurodevelopmental syndrome affecting females. 61
27072799 2016

Variations for Developmental and Epileptic Encephalopathy 17

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 17:

6 (show all 24)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GNAO1 NM_020988.3(GNAO1):c.836T>A (p.Ile279Asn) SNV Pathogenic 66112 rs587777054 16:56385408-56385408 16:56351496-56351496
2 GNAO1 NM_020988.3(GNAO1):c.521A>G (p.Asp174Gly) SNV Pathogenic 66113 rs587777055 16:56368697-56368697 16:56334785-56334785
3 GNAO1 NM_020988.3(GNAO1):c.572_592del (p.Thr191_Phe197del) Deletion Pathogenic 66114 rs587777056 16:56368740-56368760 16:56334828-56334848
4 GNAO1 NM_020988.3(GNAO1):c.851T>C (p.Leu284Ser) SNV Pathogenic 496687 rs1555508316 16:56385423-56385423 16:56351511-56351511
5 GNAO1 NM_020988.3(GNAO1):c.607G>C (p.Gly203Arg) SNV Pathogenic 803257 rs587777057 16:56370656-56370656 16:56336744-56336744
6 GNAO1 NM_020988.3(GNAO1):c.607G>A (p.Gly203Arg) SNV Pathogenic 66115 16:56370656-56370656 16:56336744-56336744
7 GNAO1 NM_020988.3(GNAO1):c.607G>A (p.Gly203Arg) SNV Pathogenic 66115 16:56370656-56370656 16:56336744-56336744
8 GNAO1 NM_020988.3(GNAO1):c.680C>T (p.Ala227Val) SNV Pathogenic 211088 16:56370729-56370729 16:56336817-56336817
9 GNAO1 NM_020988.3(GNAO1):c.680C>T (p.Ala227Val) SNV Pathogenic/Likely pathogenic 211088 16:56370729-56370729 16:56336817-56336817
10 GNAO1 NM_020988.3(GNAO1):c.973T>G (p.Cys325Gly) SNV Likely pathogenic 975404 16:56388873-56388873 16:56354961-56354961
11 GNAO1 NM_020988.3(GNAO1):c.509C>G (p.Pro170Arg) SNV Likely pathogenic 813742 16:56368685-56368685 16:56334773-56334773
12 GNAO1 NM_020988.3(GNAO1):c.731T>A (p.Met244Lys) SNV Likely pathogenic 870180 16:56385303-56385303 16:56351391-56351391
13 GNAO1 NM_020988.3(GNAO1):c.626G>T (p.Arg209Leu) SNV Likely pathogenic 431699 rs797044878 16:56370675-56370675 16:56336763-56336763
14 GNAO1 NM_020988.3(GNAO1):c.118G>A (p.Gly40Arg) SNV Likely pathogenic 666297 rs886041715 16:56226265-56226265 16:56192353-56192353
15 GNAO1 NM_020988.3(GNAO1):c.143C>A (p.Thr48Asn) SNV Likely pathogenic 803255 rs1555499800 16:56226510-56226510 16:56192598-56192598
16 GNAO1 NM_020988.3(GNAO1):c.451G>A (p.Asp151Asn) SNV Likely pathogenic 803256 rs1596867702 16:56362690-56362690 16:56328778-56328778
17 GNAO1 NM_020988.3(GNAO1):c.692A>G (p.Tyr231Cys) SNV Likely pathogenic 374381 rs1057518678 16:56370741-56370741 16:56336829-56336829
18 GNAO1 NM_020988.3(GNAO1):c.143C>T (p.Thr48Ile) SNV Likely pathogenic 435341 rs1555499800 16:56226510-56226510 16:56192598-56192598
19 GNAO1 NM_020988.3(GNAO1):c.709G>A (p.Glu237Lys) SNV Likely pathogenic 420523 rs1064794533 16:56370758-56370758 16:56336846-56336846
20 GNAO1 NM_020988.3(GNAO1):c.662C>A (p.Ala221Asp) SNV Likely pathogenic 522843 rs1555507479 16:56370711-56370711 16:56336799-56336799
21 GNAO1 NM_020988.3(GNAO1):c.736G>C (p.Glu246Gln) SNV Likely pathogenic 689763 rs797044951 16:56385308-56385308 16:56351396-56351396
22 GNAO1 NM_020988.3(GNAO1):c.723+6926G>C SNV Uncertain significance 495256 rs539641021 16:56377698-56377698 16:56343786-56343786
23 GNAO1 NM_020988.3(GNAO1):c.723+4106A>G SNV Uncertain significance 930767 16:56374878-56374878 16:56340966-56340966
24 GNAO1 NM_020988.3(GNAO1):c.428G>A (p.Arg143Gln) SNV Uncertain significance 976398 16:56362667-56362667 16:56328755-56328755

UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 17:

73
# 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

Expression for Developmental and Epileptic Encephalopathy 17

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 17.

Pathways for Developmental and Epileptic Encephalopathy 17

Pathways related to Developmental and Epileptic Encephalopathy 17 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.78 MECP2 ARX

GO Terms for Developmental and Epileptic Encephalopathy 17

Biological processes related to Developmental and Epileptic Encephalopathy 17 according to GeneCards Suite gene sharing:

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

Sources for Developmental and Epileptic Encephalopathy 17

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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