MCID: GN1001
MIFTS: 11

Gnao1 Encephalopathy

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Gnao1 Encephalopathy

MalaCards integrated aliases for Gnao1 Encephalopathy:

Name: Gnao1 Encephalopathy 53
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 encephalopathy and epileptic encephalopathy, early infantile, 17. An important gene associated with Gnao1 Encephalopathy is GNAO1 (G Protein Subunit Alpha O1). Affiliated tissues include brain, tongue and testes.

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 encephalopathy 10.4
2 epileptic encephalopathy, early infantile, 17 10.3
3 early infantile epileptic encephalopathy 10.3
4 movement disease 10.3
5 neurodevelopmental disorder with involuntary movements 10.1
6 astrocytoma 10.1
7 fibrillary astrocytoma 10.1
8 microcephaly 10.1
9 cerebral atrophy 10.1

Graphical network of the top 20 diseases related to Gnao1 Encephalopathy:



Diseases related to Gnao1 Encephalopathy

Symptoms & Phenotypes for Gnao1 Encephalopathy

Drugs & Therapeutics for Gnao1 Encephalopathy

Search Clinical Trials , NIH Clinical Center for Gnao1 Encephalopathy

Genetic Tests for Gnao1 Encephalopathy

Anatomical Context for Gnao1 Encephalopathy

MalaCards organs/tissues related to Gnao1 Encephalopathy:

41
Brain, Tongue, Testes

Publications for Gnao1 Encephalopathy

Articles related to Gnao1 Encephalopathy:

# Title Authors PMID Year
1
Movement disorder in GNAO1 encephalopathy associated with gain-of-function mutations. 38 6
28747448 2017
2
Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region. 38
30682224 2019
3
A mechanistic review on GNAO1-associated movement disorder. 38
29758257 2018
4
Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test results. 38
29961512 2018
5
GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome. 38
28357411 2017
6
GNAO1 encephalopathy: further delineation of a severe neurodevelopmental syndrome affecting females. 38
27072799 2016

Variations for Gnao1 Encephalopathy

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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