MCID: GNB001
MIFTS: 9

Gnb1 Encephalopathy

Aliases & Classifications for Gnb1 Encephalopathy

MalaCards integrated aliases for Gnb1 Encephalopathy:

Name: Gnb1 Encephalopathy 24

Characteristics:

GeneReviews:

24
Penetrance Most probands reported to date with gnb1-e whose parents have undergone molecular genetic testing have the disorder as a result of a de novo...

Summaries for Gnb1 Encephalopathy

MalaCards based summary : Gnb1 Encephalopathy is related to alacrima, achalasia, and mental retardation syndrome and mental retardation, autosomal dominant 42. An important gene associated with Gnb1 Encephalopathy is GNB1 (G Protein Subunit Beta 1). Affiliated tissues include testes and brain.

GeneReviews: NBK554743

Related Diseases for Gnb1 Encephalopathy

Diseases related to Gnb1 Encephalopathy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 alacrima, achalasia, and mental retardation syndrome 10.1
2 mental retardation, autosomal dominant 42 10.1
3 mastocytosis 10.1
4 dystonia 10.1
5 encephalopathy 10.1
6 hypotonia 10.1
7 infantile hypotonia 10.1

Graphical network of the top 20 diseases related to Gnb1 Encephalopathy:



Diseases related to Gnb1 Encephalopathy

Symptoms & Phenotypes for Gnb1 Encephalopathy

Drugs & Therapeutics for Gnb1 Encephalopathy

Search Clinical Trials , NIH Clinical Center for Gnb1 Encephalopathy

Genetic Tests for Gnb1 Encephalopathy

Anatomical Context for Gnb1 Encephalopathy

MalaCards organs/tissues related to Gnb1 Encephalopathy:

40
Testes, Brain

Publications for Gnb1 Encephalopathy

Articles related to Gnb1 Encephalopathy:

(show all 18)
# Title Authors PMID Year
1
Phenotype-genotype correlations in patients with GNB1 gene variants, including the first three reported Japanese patients to exhibit spastic diplegia, dyskinetic quadriplegia, and infantile spasms. 24
31735425 2020
2
Myoclonus-dystonia caused by GNB1 mutation responsive to deep brain stimulation. 24
31034681 2019
3
Novel West syndrome candidate genes in a Chinese cohort. 24
29667327 2018
4
Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature. 24
30194818 2018
5
Novel GNB1 de novo mutation in a patient with neurodevelopmental disorder and cutaneous mastocytosis: Clinical report and literature review. 24
29174093 2018
6
Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans. 24
28087732 2017
7
Acute lymphoblastic leukemia in a child with a de novo germline gnb1 mutation. 24
27759915 2017
8
Novel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability. 24
27668284 2016
9
Gβγ subunits-Different spaces, different faces. 24
27378564 2016
10
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 24
27108799 2016
11
Timing, rates and spectra of human germline mutation. 24
26656846 2016
12
Mast Cells, Mastocytosis, and Related Disorders. 24
26535528 2015
13
Mutations in G protein β subunits promote transformation and kinase inhibitor resistance. 24
25485910 2015
14
The expanding roles of Gβγ subunits in G protein-coupled receptor signaling and drug action. 24
23406670 2013
15
Neural tube defects and impaired neural progenitor cell proliferation in Gbeta1-deficient mice. 24
20186915 2010
16
DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. 24
19344873 2009
17
G protein βγ subunits: central mediators of G protein-coupled receptor signaling. 24
18488142 2008
18
GNB1 Encephalopathy 61
32134617 2020

Variations for Gnb1 Encephalopathy

Expression for Gnb1 Encephalopathy

Search GEO for disease gene expression data for Gnb1 Encephalopathy.

Pathways for Gnb1 Encephalopathy

GO Terms for Gnb1 Encephalopathy

Sources for Gnb1 Encephalopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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