MCID: GLY078
MIFTS: 30

Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency

Categories: Liver diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Glycogen Storage Disease Due to Glycogen Branching Enzyme...

MalaCards integrated aliases for Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency:

Name: Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency 60
Glycogen Storage Disease Type Iv 60 74
Glycogenosis Due to Glycogen Branching Enzyme Deficiency 60
Gsd Due to Glycogen Branching Enzyme Deficiency 60
Glycogen Storage Disease Type 4 60
Glycogenosis Type Iv 60
Glycogenosis Type 4 60
Andersen Disease 60
Amylopectinosis 60
Gsd Type Iv 60
Gsd Type 4 60

Characteristics:

Orphanet epidemiological data:

60
glycogen storage disease due to glycogen branching enzyme deficiency
Inheritance: Autosomal recessive; Age of onset: Adolescent,Adult,Antenatal,Childhood,Infancy,Neonatal; Age of death: any age;

Classifications:



External Ids:

ICD10 via Orphanet 35 E74.0
UMLS via Orphanet 75 C0017923 C1563715
Orphanet 60 ORPHA367
UMLS 74 C0017923

Summaries for Glycogen Storage Disease Due to Glycogen Branching Enzyme...

MalaCards based summary : Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, also known as glycogen storage disease type iv, is related to glycogen storage disease iv and polyglucosan body myopathy 1 with or without immunodeficiency, and has symptoms including muscle weakness and hepatosplenomegaly. The drug Pharmaceutical Solutions has been mentioned in the context of this disorder. Affiliated tissues include liver, brain and heart, and related phenotypes are muscular hypotonia and abnormality of metabolism/homeostasis

Related Diseases for Glycogen Storage Disease Due to Glycogen Branching Enzyme...

Diseases related to Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 glycogen storage disease iv 12.2
2 polyglucosan body myopathy 1 with or without immunodeficiency 11.2
3 glycogen storage disease 10.1
4 hepatocellular carcinoma 10.1
5 cirrhosis, familial 10.1
6 fetal akinesia deformation sequence 10.1
7 neuroblastoma 10.1
8 lymphatic malformation 7 10.1
9 liver disease 10.1
10 hepatocellular adenoma 10.1
11 adenoma 10.1
12 fetal edema 10.1
13 hydrops fetalis 10.1
14 hypotonia 10.1
15 polyglucosan body neuropathy, adult form 10.0
16 adult polyglucosan body disease 10.0

Graphical network of the top 20 diseases related to Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency:



Diseases related to Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency

Symptoms & Phenotypes for Glycogen Storage Disease Due to Glycogen Branching Enzyme...

Human phenotypes related to Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency:

60 33 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001252
2 abnormality of metabolism/homeostasis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001939
3 decreased liver function 60 33 hallmark (90%) Very frequent (99-80%) HP:0001410
4 ascites 60 33 hallmark (90%) Very frequent (99-80%) HP:0001541
5 hepatitis 60 33 hallmark (90%) Very frequent (99-80%) HP:0012115
6 abnormality of movement 60 33 hallmark (90%) Very frequent (99-80%) HP:0100022
7 hypertrophic cardiomyopathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0001639

UMLS symptoms related to Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency:


muscle weakness, hepatosplenomegaly

Drugs & Therapeutics for Glycogen Storage Disease Due to Glycogen Branching Enzyme...

Drugs for Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Triheptanoin Treatment Trial for Patients With Adult Polyglucosan Body Disease Completed NCT00947960 Phase 2 Triheptanoin
2 Glycogen Storage Disease Type IV Database Recruiting NCT02683512
3 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Recruiting NCT02635269 Not Applicable
4 Biomarker for Glycogen Storage Diseases Recruiting NCT02385162

Search NIH Clinical Center for Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency

Genetic Tests for Glycogen Storage Disease Due to Glycogen Branching Enzyme...

Anatomical Context for Glycogen Storage Disease Due to Glycogen Branching Enzyme...

MalaCards organs/tissues related to Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency:

42
Liver, Brain, Heart, Skeletal Muscle

Publications for Glycogen Storage Disease Due to Glycogen Branching Enzyme...

Articles related to Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency:

(show all 50)
# Title Authors Year
1
Novel pathogenic variants in GBE1 causing fetal akinesia deformation sequence and severe neuromuscular form of glycogen storage disease type IV. ( 30303820 )
2019
2
Case of Neonatal Fatality from Neuromuscular Variant of Glycogen Storage Disease Type IV. ( 30311141 )
2019
3
Glycogen Storage Disease Type IV: A Rare Cause for Neuromuscular Disorders or Often Missed? ( 30569318 )
2019
4
Variable clinical presentation of glycogen storage disease type IV: from severe hepatosplenomegaly to cardiac insufficiency. Some discrepancies in genetic and biochemical abnormalities. ( 29379554 )
2018
5
Analysis of GBE1 mutations via protein expression studies in glycogen storage disease type IV: A report on a non-progressive form with a literature review. ( 30228975 )
2018
6
Polyglucosan Bodies in Placental Extravillious Trophoblast for the Diagnosis of Fatal Perinatal Neuromuscular Type Glycogen Storage Disease Type IV. ( 28497716 )
2017
7
Neural correlates of adaptive working memory training in a glycogen storage disease type-IV patient. ( 28275655 )
2017
8
Systemic Correction of Murine Glycogen Storage Disease Type IV by an AAV-Mediated Gene Therapy. ( 27832700 )
2016
9
Alglucosidase alfa treatment alleviates liver disease in a mouse model of glycogen storage disease type IV. ( 27747161 )
2016
10
A novel GBE1 Gene variant in a child with glycogen storage disease type IV. ( 27107456 )
2016
11
A Modified Enzymatic Method for Measurement of Glycogen Content in Glycogen Storage Disease Type IV. ( 27344645 )
2016
12
Distinctly Elevated Chitotriosidase Activity in a Child with Congenital Andersen Disease (Glycogen Storage Disease Type IV). ( 27442143 )
2016
13
A novel neuromuscular form of glycogen storage disease type IV with arthrogryposis, spinal stiffness and rare polyglucosan bodies in muscle. ( 27546458 )
2016
14
Glycogen Storage Disease Type IV: A Case With Histopathologic Findings in First-Trimester Placental Tissue. ( 26166723 )
2015
15
A Rare Cause of Elevated Chitotriosidase Activity: Glycogen Storage Disease Type IV. ( 25155778 )
2014
16
Glycogen Storage Disease type IV and early Implantation Defect: early Trophoblastic Involvement associated with a new GBE1 Mutation. ( 25489661 )
2014
17
Neonatal presentation of lethal neuromuscular glycogen storage disease type IV. ( 23014386 )
2012
18
Cardiac Involvement in Glycogen Storage Disease Type IV: Two Cases and the Two Ends of a Spectrum. ( 23056054 )
2012
19
Association of the congenital neuromuscular form of glycogen storage disease type IV with a large deletion and recurrent frameshift mutation. ( 21917543 )
2012
20
Liver biopsy is an important procedure in the diagnosis of glycogen storage disease type IV. ( 21342345 )
2011
21
Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder. ( 20058079 )
2010
22
PGD for glycogen storage disease type IV: birth of healthy twins following successful clinical application of a mutation-specific protocol. ( 20063322 )
2010
23
Living Donor Liver Transplantation in a Korean Child with Glycogen Storage Disease Type IV and a GBE1 Mutation. ( 20479904 )
2009
24
Neuropathological study of skeletal muscle, heart, liver, and brain in a neonatal form of glycogen storage disease type IV associated with a new mutation in GBE1 gene. ( 19357989 )
2009
25
A case of congenital glycogen storage disease type IV with a novel GBE1 mutation. ( 18230843 )
2008
26
Placental involvement in glycogen storage disease type IV. ( 18289670 )
2008
27
A complex rearrangement in GBE1 causes both perinatal hypoglycemic collapse and late-juvenile-onset neuromuscular degeneration in glycogen storage disease type IV of Norwegian forest cats. ( 17257876 )
2007
28
Null mutations and lethal congenital form of glycogen storage disease type IV. ( 17662246 )
2007
29
Neonatal neuromuscular variant of glycogen storage disease type IV: histopathological findings leading to the diagnosis. ( 16722943 )
2006
30
Prenatal diagnosis of glycogen storage disease type IV. ( 16874838 )
2006
31
Non-lethal congenital hypotonia due to glycogen storage disease type IV. ( 16528737 )
2006
32
Fatal infantile neuromuscular presentation of glycogen storage disease type IV. ( 15019703 )
2004
33
Congenital form of glycogen storage disease type IV: a case report and a review of the literature. ( 15310318 )
2004
34
A neonatal form of glycogen storage disease type IV. ( 12913206 )
2003
35
The variable presentations of glycogen storage disease type IV: a review of clinical, enzymatic and molecular studies. ( 11949934 )
2002
36
Hepatocellular carcinoma in glycogen storage disease type IV. ( 10833181 )
2000
37
Prenatal diagnosis of glycogen storage disease type IV using PCR-based DNA mutation analysis. ( 10521841 )
1999
38
Glycogen storage disease type IV presenting as hydrops fetalis. ( 10384399 )
1999
39
Glycogen storage disease type IV: a case report. ( 10533307 )
1999
40
Glycogen storage disease type IV: a case report. ( 9610625 )
1998
41
Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene. ( 8613547 )
1996
42
Hepatocellular adenoma in glycogen storage disease type IV. ( 8285839 )
1994
43
Glycogen storage disease (type-IV) with cirrhosis and metastatic intrathoracic neuroblastoma. ( 7960005 )
1994
44
Glycogen Storage Disease Type IV ( 23285490 )
1993
45
Leukocyte inclusions in glycogen storage disease, type IV. ( 1333075 )
1992
46
Glycogen storage disease type IV: inherited deficiency of branching enzyme activity in cats. ( 1337588 )
1992
47
Glycogen storage disease (Type IV): a familial cirrhosis diagnosed by electron microscopy (case report). ( 6938485 )
1980
48
Glycogen storage disease type IV diagnosed biochemically. A case report. ( 280962 )
1978
49
Glycogen storage disease type IV, amylopectinosis. ( 5246692 )
1968
50
Glycogen storage disease type IV, amylopectinosis. ( 5248385 )
1968

Variations for Glycogen Storage Disease Due to Glycogen Branching Enzyme...

Expression for Glycogen Storage Disease Due to Glycogen Branching Enzyme...

Search GEO for disease gene expression data for Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency.

Pathways for Glycogen Storage Disease Due to Glycogen Branching Enzyme...

GO Terms for Glycogen Storage Disease Due to Glycogen Branching Enzyme...

Sources for Glycogen Storage Disease Due to Glycogen Branching Enzyme...

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