Aliases & Classifications for Gnao1 Encephalopathy

MalaCards integrated aliases for Gnao1 Encephalopathy:

Name: Gnao1 Encephalopathy 53
Early Infantile Epileptic Encephalopathy 17 29 6
Encephalopathy, Epileptic, Early Infantile, Type 17 40
Early Infantile Epileptic Encephalopathy-17 53

Classifications:



Summaries for Gnao1 Encephalopathy

NIH Rare Diseases : 53 GNAO1 encephalopathy is a rare neurologic disorder that causes developmental delay, early infantile seizures, and abnormal movements. Specific symptoms may include seizures that start early in childhood, severe intellectual disability, poor muscle tone (hypotonia), irregular muscle contractions (chorea), and involuntary movements of the face and tongue (dyskinesia). The severity of symptoms can vary. Symptoms may be triggered by strong emotions, illness, and purposeful movements.GNAO1 encephalopathy is caused by mutations in the GNAO1 gene and inheritance is autosomal dominant. Treatment aims to relieve individual symptoms and may not be effective for all people. In some cases, movement disorders have improved after the placement of a deep brain stimulator (DBS) device. Some have had improvement of seizures with anti-seizure medications or with a ketogenic diet, but others have not. While the long-term outcome has not been well-studied, the disease is typically very severe, with some people losing their motor skills in the early stages of the disease.

MalaCards based summary : Gnao1 Encephalopathy, also known as early infantile epileptic encephalopathy 17, is related to epileptic encephalopathy, early infantile, 17 and encephalopathy, and has symptoms including tonic seizures An important gene associated with Gnao1 Encephalopathy is GNAO1 (G Protein Subunit Alpha O1). Affiliated tissues include tongue and brain.

Related Diseases for Gnao1 Encephalopathy

Diseases related to Gnao1 Encephalopathy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 epileptic encephalopathy, early infantile, 17 11.2
2 encephalopathy 10.1
3 movement disease 10.0

Symptoms & Phenotypes for Gnao1 Encephalopathy

UMLS symptoms related to Gnao1 Encephalopathy:


tonic seizures

Drugs & Therapeutics for Gnao1 Encephalopathy

Search Clinical Trials , NIH Clinical Center for Gnao1 Encephalopathy

Genetic Tests for Gnao1 Encephalopathy

Genetic tests related to Gnao1 Encephalopathy:

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

Anatomical Context for Gnao1 Encephalopathy

MalaCards organs/tissues related to Gnao1 Encephalopathy:

41
Tongue, Brain

Publications for Gnao1 Encephalopathy

Articles related to Gnao1 Encephalopathy:

# Title Authors Year
1
GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome. ( 28357411 )
2017
2
Movement disorder in GNAO1 encephalopathy associated with gain-of-function mutations. ( 28747448 )
2017

Variations for Gnao1 Encephalopathy

ClinVar genetic disease variations for Gnao1 Encephalopathy:

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

Expression for Gnao1 Encephalopathy

Search GEO for disease gene expression data for Gnao1 Encephalopathy.

Pathways for Gnao1 Encephalopathy

GO Terms for Gnao1 Encephalopathy

Sources for Gnao1 Encephalopathy

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