MCID: GLY078
MIFTS: 38

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 58 6
Glycogen Storage Disease Type Iv 58 71
Glycogenosis Due to Glycogen Branching Enzyme Deficiency 58
Gsd Due to Glycogen Branching Enzyme Deficiency 58
Glycogen Storage Disease Type 4 58
Glycogenosis Type Iv 58
Glycogenosis Type 4 58
Andersen Disease 58
Amylopectinosis 58
Gsd Type Iv 58
Gsd Type 4 58

Characteristics:

Orphanet epidemiological data:

58
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:

Orphanet: 58  
Rare neurological diseases
Rare hepatic diseases
Inborn errors of metabolism


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 glycogen storage disease, and has symptoms including muscle weakness and hepatosplenomegaly. An important gene associated with Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency is GBE1 (1,4-Alpha-Glucan Branching Enzyme 1). The drug Pharmaceutical Solutions has been mentioned in the context of this disorder. Affiliated tissues include liver, skeletal muscle and heart, and related phenotypes are hepatomegaly and generalized abnormality of skin

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 47)
# Related Disease Score Top Affiliating Genes
1 glycogen storage disease iv 32.6 RBCK1 GBE1
2 glycogen storage disease 29.6 RBCK1 GBE1
3 myopathy 29.0 RBCK1 GBE1
4 polyglucosan body myopathy 1 with or without immunodeficiency 11.4
5 dilated cardiomyopathy 10.4
6 liver disease 10.4
7 hydrops fetalis, nonimmune 10.4
8 hypoglycemia 10.3
9 autosomal recessive disease 10.2
10 cirrhosis, familial 10.1
11 glycogen storage disease ia 10.1
12 glycogen storage disease iii 10.1
13 spinal muscular atrophy, type i 10.1
14 hepatocellular adenoma 10.1
15 portal hypertension 10.1
16 respiratory failure 10.1
17 spinal muscular atrophy 10.1
18 gout 10.1
19 gaucher's disease 10.1
20 lysosomal storage disease 10.1
21 arthropathy 10.1
22 neuromuscular disease 10.1
23 adenoma 10.1
24 muscular atrophy 10.1
25 neuroblastoma 10.1
26 glycogen storage disease due to glucose-6-phosphatase deficiency 10.1
27 skeletal muscle disease 10.1
28 immune deficiency disease 10.0
29 fetal akinesia deformation sequence 1 10.0
30 batten-turner congenital myopathy 10.0
31 polyglucosan body neuropathy, adult form 10.0
32 peritonitis 10.0
33 polyhydramnios 10.0
34 gbe1 adult polyglucosan body disease 10.0
35 primary agammaglobulinemia 10.0
36 hypotonia 10.0
37 congenital amyoplasia 10.0
38 spasticity 9.9
39 atrial standstill 1 9.9
40 myoclonic epilepsy of lafora 9.9
41 hypertrophic cardiomyopathy 9.9
42 progressive myoclonus epilepsy, lafora type 9.9
43 combined immunodeficiency 9.9
44 bacterial infectious disease 9.9
45 liver cirrhosis 9.9
46 lymphangiectasis 9.9
47 posttransplant acute limbic encephalitis 9.9

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:

58 31 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hepatomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002240
2 generalized abnormality of skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0011354
3 abnormal muscle glycogen content 58 31 hallmark (90%) Very frequent (99-80%) HP:0012269
4 abnormal cardiomyocyte morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0031331
5 abnormal neuron branching 58 31 hallmark (90%) Very frequent (99-80%) HP:0500032
6 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
7 myopathy 58 31 frequent (33%) Frequent (79-30%) HP:0003198
8 elevated hepatic transaminase 58 31 frequent (33%) Frequent (79-30%) HP:0002910
9 dilated cardiomyopathy 58 31 frequent (33%) Frequent (79-30%) HP:0001644
10 motor delay 58 31 frequent (33%) Frequent (79-30%) HP:0001270
11 hypoalbuminemia 58 31 frequent (33%) Frequent (79-30%) HP:0003073
12 generalized hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001290
13 respiratory insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0002093
14 flexion contracture 58 31 occasional (7.5%) Occasional (29-5%) HP:0001371
15 portal hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0001409
16 skeletal muscle atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003202
17 congestive heart failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0001635
18 ascites 58 31 occasional (7.5%) Occasional (29-5%) HP:0001541
19 cirrhosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001394
20 fetal akinesia sequence 58 31 occasional (7.5%) Occasional (29-5%) HP:0001989
21 polyhydramnios 58 31 occasional (7.5%) Occasional (29-5%) HP:0001561
22 hepatic failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0001399
23 esophageal varix 58 31 occasional (7.5%) Occasional (29-5%) HP:0002040
24 severe muscular hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0006829
25 prolonged prothrombin time 58 31 occasional (7.5%) Occasional (29-5%) HP:0008151
26 respiratory distress 58 31 occasional (7.5%) Occasional (29-5%) HP:0002098
27 hepatosplenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001433
28 nonimmune hydrops fetalis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001790
29 prolonged partial thromboplastin time 58 31 occasional (7.5%) Occasional (29-5%) HP:0003645
30 decreased liver function 58 Very frequent (99-80%)

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


muscle weakness, hepatosplenomegaly

MGI Mouse Phenotypes related to Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 8.62 GBE1 RBCK1

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Treatment Trial of Triheptanoin in Patients With Adult Polyglucosan Body Disease - A Randomized Controlled Study Completed NCT00947960 Phase 2 Triheptanoin
2 Database for Information on Individuals Affected With Glycogen Brancher Deficiency, Also Known as Glycogen Storage Disease Type IV Recruiting NCT02683512
3 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Active, not recruiting NCT02635269
4 Biomarker for Glycogen Storage Diseases - AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Active, not 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:

40
Liver, Skeletal Muscle, Heart

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

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

(show top 50) (show all 84)
# Title Authors PMID Year
1
The potential of dietary treatment in patients with glycogen storage disease type IV. 61
33332610 2020
2
GYS1 or PPP1R3C deficiency rescues murine adult polyglucosan body disease. 61
33034425 2020
3
Hallmarks of oxidative stress in the livers of aged mice with mild glycogen branching enzyme deficiency. 61
33049291 2020
4
Two cases of a non-progressive hepatic form of glycogen storage disease type IV with atypical liver pathology. 61
32455116 2020
5
Glycogen Storage Disease Type IV Diagnosed at Fetal Autopsy. 61
31747834 2020
6
Case report: adult-onset manifesting heterozygous glycogen storage disease type IV with dilated cardiomyopathy and absent late gadolinium enhancement on cardiac magnetic resonance imaging. 61
32617483 2020
7
Update on polyglucosan storage diseases. 61
31363843 2019
8
Glycogen branching enzyme controls cellular iron homeostasis via Iron Regulatory Protein 1 and mitoNEET. 61
31784520 2019
9
Glycogen storage disease type IV: dilated cardiomyopathy as the isolated initial presentation in an adult patient. 61
31527204 2019
10
Novel pathogenic variants in GBE1 causing fetal akinesia deformation sequence and severe neuromuscular form of glycogen storage disease type IV. 61
30303820 2019
11
Case of Neonatal Fatality from Neuromuscular Variant of Glycogen Storage Disease Type IV. 61
30311141 2019
12
Glycogen Storage Disease Type IV: A Rare Cause for Neuromuscular Disorders or Often Missed? 61
30569318 2019
13
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. 61
30228975 2018
14
Polyglucosan Bodies in Placental Extravillious Trophoblast for the Diagnosis of Fatal Perinatal Neuromuscular-type Glycogen Storage Disease Type IV. 61
28497716 2018
15
Variable clinical presentation of glycogen storage disease type IV: from severe hepatosplenomegaly to cardiac insufficiency. Some discrepancies in genetic and biochemical abnormalities. 61
29379554 2018
16
Systemic Correction of Murine Glycogen Storage Disease Type IV by an AAV-Mediated Gene Therapy. 61
27832700 2017
17
Neural correlates of adaptive working memory training in a glycogen storage disease type-IV patient. 61
28275655 2017
18
Alglucosidase alfa treatment alleviates liver disease in a mouse model of glycogen storage disease type IV. 61
27747161 2016
19
Glycogen Storage Disease Type IV and Early Implantation Defect: Early Trophoblastic Involvement Associated with a New GBE1 Mutation. 61
25489661 2016
20
A novel neuromuscular form of glycogen storage disease type IV with arthrogryposis, spinal stiffness and rare polyglucosan bodies in muscle. 61
27546458 2016
21
Distinctly Elevated Chitotriosidase Activity in a Child with Congenital Andersen Disease (Glycogen Storage Disease Type IV). 61
27442143 2016
22
A novel GBE1 gene variant in a child with glycogen storage disease type IV. 61
27107456 2016
23
Glycogen Storage Disease Type IV: A Case With Histopathologic Findings in First-Trimester Placental Tissue. 61
26166723 2016
24
A Modified Enzymatic Method for Measurement of Glycogen Content in Glycogen Storage Disease Type IV. 61
27344645 2016
25
A novel mouse model that recapitulates adult-onset glycogenosis type 4. 61
26385640 2015
26
First fully laparoscopic donor hepatectomy for pediatric liver transplantation using the indocyanine green near-infrared fluorescence imaging in the Middle East: a case report. 61
25811211 2014
27
A Rare Cause of Elevated Chitotriosidase Activity: Glycogen Storage Disease Type IV. 61
25155778 2014
28
Glycogen Storage Disease Type IV 61
23285490 2013
29
Could GSD type I expand the spectrum of disorders with elevated plasma chitotriosidase activity? 61
23813353 2013
30
Neonatal presentation of lethal neuromuscular glycogen storage disease type IV. 61
23014386 2012
31
Diffuse reticuloendothelial system involvement in type IV glycogen storage disease with a novel GBE1 mutation: a case report and review. 61
22305237 2012
32
Association of the congenital neuromuscular form of glycogen storage disease type IV with a large deletion and recurrent frameshift mutation. 61
21917543 2012
33
Cardiac Involvement in Glycogen Storage Disease Type IV: Two Cases and the Two Ends of a Spectrum. 61
23056054 2012
34
Generation of a novel mouse model that recapitulates early and adult onset glycogenosis type IV. 61
21856731 2011
35
Favorable outcome of primary liver transplantation in children with cirrhosis and hepatocellular carcinoma. 61
21797955 2011
36
Liver biopsy is an important procedure in the diagnosis of glycogen storage disease type IV. 61
21342345 2011
37
Glycogen-branching enzyme deficiency leads to abnormal cardiac development: novel insights into glycogen storage disease IV. 61
21075835 2011
38
Branching enzyme deficiency/glycogenosis storage disease type IV presenting as a severe congenital hypotonia: muscle biopsy and autopsy findings, biochemical and molecular genetic studies. 61
20833045 2010
39
Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder. 61
20058079 2010
40
Non-lethal neonatal neuromuscular variant of glycogenosis type IV with novel GBE1 mutations. 61
19813197 2010
41
PGD for glycogen storage disease type IV: birth of healthy twins following successful clinical application of a mutation-specific protocol. 61
20063322 2010
42
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. 61
19357989 2009
43
Living Donor Liver Transplantation in a Korean Child with Glycogen Storage Disease Type IV and a GBE1 Mutation. 61
20479904 2009
44
Placental involvement in glycogen storage disease type IV. 61
18289670 2008
45
A case of congenital glycogen storage disease type IV with a novel GBE1 mutation. 61
18230843 2008
46
Null mutations and lethal congenital form of glycogen storage disease type IV. 61
17662246 2007
47
Neuromuscular forms of glycogen branching enzyme deficiency. 61
17915577 2007
48
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. 61
17257876 2007
49
Hepatic disease as the first manifestation of progressive myoclonus epilepsy of Lafora. 61
17452581 2007
50
Prenatal diagnosis of glycogen storage disease type IV. 61
16874838 2006

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

ClinVar genetic disease variations for Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency:

6 (show top 50) (show all 212)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GBE1 NM_000158.4(GBE1):c.691+5G>C SNV Pathogenic 2792 rs397515344 3:81698002-81698002 3:81648851-81648851
2 GBE1 NM_000158.4(GBE1):c.771T>A (p.Phe257Leu) SNV Pathogenic 2780 rs137852887 3:81695554-81695554 3:81646403-81646403
3 GBE1 NM_000158.3(GBE1):c.993-?_1618+?del Deletion Pathogenic 2783 3:81586246-81691932 3:81537095-81642781
4 GBE1 NM_000158.4(GBE1):c.1543C>T (p.Arg515Cys) SNV Pathogenic 2779 rs80338672 3:81627151-81627151 3:81578000-81578000
5 GBE1 NM_000158.4(GBE1):c.1571G>A (p.Arg524Gln) SNV Pathogenic 2782 rs80338673 3:81627123-81627123 3:81577972-81577972
6 GBE1 NM_000158.4(GBE1):c.288del (p.Gly97fs) Deletion Pathogenic 371491 rs1057517315 3:81754620-81754620 3:81705469-81705469
7 GBE1 NM_000158.4(GBE1):c.415G>T (p.Gly139Ter) SNV Pathogenic 435291 rs1553690406 3:81720003-81720003 3:81670852-81670852
8 GBE1 NM_000158.4(GBE1):c.993-1G>T SNV Pathogenic 478912 rs763016962 3:81643175-81643175 3:81594024-81594024
9 RBCK1 NM_031229.4(RBCK1):c.1112G>T (p.Cys371Phe) SNV Pathogenic 430898 rs1555787599 20:408039-408039 20:427395-427395
10 GBE1 NM_000158.4(GBE1):c.288del (p.Gly97fs) Deletion Pathogenic 371491 rs1057517315 3:81754620-81754620 3:81705469-81705469
11 GBE1 NC_000003.12:g.(?_81761375)_(81761517_?)del Deletion Pathogenic 583853 3:81810526-81810668 3:81761375-81761517
12 GBE1 NM_000158.4(GBE1):c.998A>T (p.Glu333Val) SNV Pathogenic 520679 rs1553684545 3:81643169-81643169 3:81594018-81594018
13 GBE1 NC_000003.12:g.(?_81490387)_(81761537_?)del Deletion Pathogenic 649642 3:81539538-81810688 3:81490387-81761537
14 GBE1 NM_000158.4(GBE1):c.1909C>T (p.Arg637Ter) SNV Pathogenic 346785 rs766935302 3:81584371-81584371 3:81535220-81535220
15 GBE1 NC_000003.12:g.(?_81499090)_(81761537_?)del Deletion Pathogenic 658997 3:81548241-81810688 3:81499090-81761537
16 GBE1 NM_000158.4(GBE1):c.1774G>T (p.Glu592Ter) SNV Pathogenic 2786 rs137852890 3:81586091-81586091 3:81536940-81536940
17 GBE1 NM_000158.4(GBE1):c.1643G>A (p.Trp548Ter) SNV Pathogenic 2793 rs137852894 3:81586222-81586222 3:81537071-81537071
18 GBE1 NM_000158.4(GBE1):c.1634A>G (p.His545Arg) SNV Pathogenic 2785 rs137852889 3:81586231-81586231 3:81537080-81537080
19 GBE1 NM_000158.4(GBE1):c.1570C>T (p.Arg524Ter) SNV Pathogenic 2781 rs137852888 3:81627124-81627124 3:81577973-81577973
20 GBE1 NM_000158.4(GBE1):c.143+1G>A SNV Pathogenic 2784 rs397515343 3:81810525-81810525 3:81761374-81761374
21 GBE1 NM_000158.4(GBE1):c.1861_1863CTT[1] (p.Leu622del) Microsatellite Pathogenic 816842 rs1576137368 3:81584414-81584416 3:81535263-81535265
22 GBE1 NC_000003.12:g.(?_81591027)_(81594033_?)del Deletion Pathogenic 830797 3:81640178-81643184
23 GBE1 NC_000003.12:g.(?_81642771)_(81643000_?)del Deletion Pathogenic 831402 3:81691922-81692151
24 GBE1 NC_000003.12:g.(?_81642771)_(81670963_?)del Deletion Pathogenic 832400 3:81691922-81720114
25 GBE1 NC_000003.12:g.(?_81490397)_(81761527_?)del Deletion Pathogenic 832626 3:81539548-81810678
26 GBE1 NC_000003.12:g.(?_81646382)_(81670963_?)del Deletion Pathogenic 833175 3:81695533-81720114
27 GBE1 NM_000158.4(GBE1):c.1386C>G (p.Tyr462Ter) SNV Pathogenic 834756 3:81630376-81630376 3:81581225-81581225
28 GBE1 NM_000158.4(GBE1):c.1300C>T (p.Arg434Ter) SNV Pathogenic 836518 3:81635278-81635278 3:81586127-81586127
29 GBE1 NM_000158.4(GBE1):c.1571G>A (p.Arg524Gln) SNV Pathogenic 2782 rs80338673 3:81627123-81627123 3:81577972-81577972
30 GBE1 NM_000158.4(GBE1):c.1570C>T (p.Arg524Ter) SNV Pathogenic 2781 rs137852888 3:81627124-81627124 3:81577973-81577973
31 GBE1 NM_000158.4(GBE1):c.202_203del (p.Lys68fs) Deletion Pathogenic 849345 3:81754705-81754706 3:81705554-81705555
32 GBE1 NM_000158.4(GBE1):c.1245_1258del (p.Gly416fs) Deletion Pathogenic 862675 3:81635320-81635333 3:81586169-81586182
33 GBE1 NM_000158.4(GBE1):c.1239del (p.Asp413fs) Deletion Pathogenic 449407 rs758504480 3:81635339-81635339 3:81586188-81586188
34 GBE1 NM_000158.4(GBE1):c.671T>C (p.Leu224Pro) SNV Pathogenic 2778 rs137852886 3:81698027-81698027 3:81648876-81648876
35 GBE1 NM_000158.4(GBE1):c.1788G>A (p.Trp596Ter) SNV Pathogenic 952547 3:81586077-81586077 3:81536926-81536926
36 GBE1 NM_000158.4(GBE1):c.336C>A (p.Tyr112Ter) SNV Pathogenic 952612 3:81720082-81720082 3:81670931-81670931
37 GBE1 NM_000158.4(GBE1):c.1468del (p.Leu490fs) Deletion Pathogenic 449406 rs774465102 3:81627226-81627226 3:81578075-81578075
38 GBE1 NM_000158.4(GBE1):c.70del (p.Asp24fs) Deletion Pathogenic 972014 3:81810599-81810599 3:81761448-81761448
39 GBE1 NM_000158.4(GBE1):c.986A>C (p.Tyr329Ser) SNV Pathogenic 2777 rs80338671 3:81691938-81691938 3:81642787-81642787
40 GBE1 NM_000158.4(GBE1):c.691+2T>C SNV Pathogenic 208584 rs192044702 3:81698005-81698005 3:81648854-81648854
41 GBE1 NM_000158.4(GBE1):c.986A>C (p.Tyr329Ser) SNV Pathogenic 2777 rs80338671 3:81691938-81691938 3:81642787-81642787
42 GBE1 NM_000158.4(GBE1):c.691+2T>C SNV Pathogenic 208584 rs192044702 3:81698005-81698005 3:81648854-81648854
43 GBE1 NM_000158.4(GBE1):c.691+2T>C SNV Pathogenic 208584 rs192044702 3:81698005-81698005 3:81648854-81648854
44 GBE1 NM_000158.4(GBE1):c.986A>C (p.Tyr329Ser) SNV Pathogenic 2777 rs80338671 3:81691938-81691938 3:81642787-81642787
45 GBE1 NM_000158.4(GBE1):c.1544G>A (p.Arg515His) SNV Pathogenic 180651 rs201958741 3:81627150-81627150 3:81577999-81577999
46 GBE1 NM_000158.4(GBE1):c.1239del (p.Asp413fs) Deletion Pathogenic 449407 rs758504480 3:81635339-81635339 3:81586188-81586188
47 GBE1 NM_000158.4(GBE1):c.1468del (p.Leu490fs) Deletion Pathogenic 449406 rs774465102 3:81627226-81627226 3:81578075-81578075
48 GBE1 NM_000158.4(GBE1):c.1909C>T (p.Arg637Ter) SNV Pathogenic 346785 rs766935302 3:81584371-81584371 3:81535220-81535220
49 GBE1 NM_000158.4(GBE1):c.1544G>A (p.Arg515His) SNV Likely pathogenic 180651 rs201958741 3:81627150-81627150 3:81577999-81577999
50 GBE1 NM_000158.4(GBE1):c.1618+1G>A SNV Likely pathogenic 947646 3:81627075-81627075 3:81577924-81577924

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...

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....