MCID: GB1002
MIFTS: 7

Gbe1 Adult Polyglucosan Body Disease

Aliases & Classifications for Gbe1 Adult Polyglucosan Body Disease

MalaCards integrated aliases for Gbe1 Adult Polyglucosan Body Disease:

Name: Gbe1 Adult Polyglucosan Body Disease 25

Summaries for Gbe1 Adult Polyglucosan Body Disease

MalaCards based summary : Gbe1 Adult Polyglucosan Body Disease is related to alzheimer disease and polyglucosan body neuropathy, adult form. An important gene associated with Gbe1 Adult Polyglucosan Body Disease is GBE1 (1,4-Alpha-Glucan Branching Enzyme 1).

GeneReviews: NBK5300

Related Diseases for Gbe1 Adult Polyglucosan Body Disease

Diseases related to Gbe1 Adult Polyglucosan Body Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 8, show less)
# Related Disease Score Top Affiliating Genes
1 alzheimer disease 10.3
2 polyglucosan body neuropathy, adult form 10.3
3 neurogenic bladder 10.3
4 constipation 10.3
5 axonal neuropathy 10.3
6 pure autonomic failure 10.3
7 autonomic dysfunction 10.3
8 spasticity 10.3

Graphical network of the top 20 diseases related to Gbe1 Adult Polyglucosan Body Disease:



Diseases related to Gbe1 Adult Polyglucosan Body Disease

Symptoms & Phenotypes for Gbe1 Adult Polyglucosan Body Disease

Drugs & Therapeutics for Gbe1 Adult Polyglucosan Body Disease

Search Clinical Trials , NIH Clinical Center for Gbe1 Adult Polyglucosan Body Disease

Genetic Tests for Gbe1 Adult Polyglucosan Body Disease

Anatomical Context for Gbe1 Adult Polyglucosan Body Disease

Publications for Gbe1 Adult Polyglucosan Body Disease

Articles related to Gbe1 Adult Polyglucosan Body Disease:

(showing 21, show less)
# Title Authors PMID Year
1
Update on polyglucosan storage diseases. 25
31363843 2019
2
Expanded teased nerve fibre pathological conditions in disease association. 25
30385486 2019
3
Guaiacol as a drug candidate for treating adult polyglucosan body disease. 25
30185673 2018
4
A double-blind, placebo-controlled trial of triheptanoin in adult polyglucosan body disease and open-label, long-term outcome. 25
29110179 2018
5
Parental influence on human germline de novo mutations in 1,548 trios from Iceland. 25
28959963 2017
6
Triacylglycerol mimetics regulate membrane interactions of glycogen branching enzyme: implications for therapy. 25
28630259 2017
7
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 25
28349240 2017
8
Start codon mutation of GYG1 causing late-onset polyglucosan body myopathy with nemaline rods. 25
27544502 2016
9
Frequent misdiagnosis of adult polyglucosan body disease. 25
26194201 2015
10
Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease. 25
25665141 2015
11
Branching enzyme deficiency: expanding the clinical spectrum. 25
24248152 2014
12
Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings. 25
23034915 2012
13
The adult polyglucosan body disease mutation GBE1 c.1076A>C occurs at high frequency in persons of Ashkenazi Jewish background. 25
22943850 2012
14
Association of the congenital neuromuscular form of glycogen storage disease type IV with a large deletion and recurrent frameshift mutation. 25
21917543 2012
15
A case of congenital glycogen storage disease type IV with a novel GBE1 mutation. 25
18230843 2008
16
Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). 25
15452297 2004
17
Fatal infantile neuromuscular presentation of glycogen storage disease type IV. 25
15019703 2004
18
Adult polyglucosan body disease: case description of an expanding genetic and clinical syndrome. 25
14755501 2004
19
Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease. 25
10762170 2000
20
Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329Ser mutation in the glycogen-branching enzyme gene. 25
9851430 1998
21
GBE1 Adult Polyglucosan Body Disease 61
20301758 2009

Variations for Gbe1 Adult Polyglucosan Body Disease

Expression for Gbe1 Adult Polyglucosan Body Disease

Search GEO for disease gene expression data for Gbe1 Adult Polyglucosan Body Disease.

Pathways for Gbe1 Adult Polyglucosan Body Disease

GO Terms for Gbe1 Adult Polyglucosan Body Disease

Sources for Gbe1 Adult Polyglucosan Body Disease

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