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 54
Encephalopathy, Epileptic, Early Infantile, Type 17 41
Early Infantile Epileptic Encephalopathy-17 54

Classifications:



Summaries for Gnao1 Encephalopathy

NIH Rare Diseases : 54 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 encephalopathy, epileptic, early infantile, type 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 and tongue.

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 10.1
3 neurodevelopmental disorder with involuntary movements 10.1

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:

42
Brain, Tongue

Publications for Gnao1 Encephalopathy

Articles related to Gnao1 Encephalopathy:

# Title Authors Year
1
Movement disorder in GNAO1 encephalopathy associated with gain-of-function mutations. ( 28747448 )
2017
2
GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome. ( 28357411 )
2017
3
GNAO1 encephalopathy: further delineation of a severe neurodevelopmental syndrome affecting females. ( 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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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