Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: GLY078 MIFTS: 38	Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency Categories: Liver diseases, Metabolic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs Expand all tables

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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:

MalaCards categories:
Global: Metabolic diseases Rare diseases
Anatomical: Neuronal diseases Liver diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Other disorders of carbohydrate metabolism

Glycogen storage disease

Orphanet: ⁵⁸

Rare neurological diseases

Rare hepatic diseases

Inborn errors of metabolism

External Ids:

ICD10 via Orphanet ³³ E74.0

UMLS via Orphanet ⁷² C0017923 C1563715

Orphanet ⁵⁸ ORPHA367

UMLS ⁷¹ C0017923

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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

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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:

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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

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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

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

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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

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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	Derks TGJ...Weinstein DA	33332610	2020
2	GYS1 or PPP1R3C deficiency rescues murine adult polyglucosan body disease. ⁶¹	Chown EE...Minassian BA	33034425	2020
3	Hallmarks of oxidative stress in the livers of aged mice with mild glycogen branching enzyme deficiency. ⁶¹	Malinska D...Duszynski J	33049291	2020
4	Two cases of a non-progressive hepatic form of glycogen storage disease type IV with atypical liver pathology. ⁶¹	Ichimoto K...Murayama K	32455116	2020
5	Glycogen Storage Disease Type IV Diagnosed at Fetal Autopsy. ⁶¹	Butler DC...Phillips A	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	Lyo S...Guelfguat M	32617483	2020
7	Update on polyglucosan storage diseases. ⁶¹	Cenacchi G...Angelini C	31363843	2019
8	Glycogen branching enzyme controls cellular iron homeostasis via Iron Regulatory Protein 1 and mitoNEET. ⁶¹	Huynh N...King-Jones K	31784520	2019
9	Glycogen storage disease type IV: dilated cardiomyopathy as the isolated initial presentation in an adult patient. ⁶¹	Ndugga-Kabuye MK...Smith KD	31527204	2019
10	Novel pathogenic variants in GBE1 causing fetal akinesia deformation sequence and severe neuromuscular form of glycogen storage disease type IV. ⁶¹	Radhakrishnan P...Girisha KM	30303820	2019
11	Case of Neonatal Fatality from Neuromuscular Variant of Glycogen Storage Disease Type IV. ⁶¹	Sandhu T...Makkar A	30311141	2019
12	Glycogen Storage Disease Type IV: A Rare Cause for Neuromuscular Disorders or Often Missed? ⁶¹	Schene IF...Visser G	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	Iijima H...Adachi M	30228975	2018
14	Polyglucosan Bodies in Placental Extravillious Trophoblast for the Diagnosis of Fatal Perinatal Neuromuscular-type Glycogen Storage Disease Type IV. ⁶¹	Yu W...Wright JR	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	Szymanska E...Rokicki D	29379554	2018
16	Systemic Correction of Murine Glycogen Storage Disease Type IV by an AAV-Mediated Gene Therapy. ⁶¹	Yi H...Sun B	27832700	2017
17	Neural correlates of adaptive working memory training in a glycogen storage disease type-IV patient. ⁶¹	Lee K...Chang L	28275655	2017
18	Alglucosidase alfa treatment alleviates liver disease in a mouse model of glycogen storage disease type IV. ⁶¹	Yi H...Sun B	27747161	2016
19	Glycogen Storage Disease Type IV and Early Implantation Defect: Early Trophoblastic Involvement Associated with a New GBE1 Mutation. ⁶¹	Dainese L...Coulomb A	25489661	2016
20	A novel neuromuscular form of glycogen storage disease type IV with arthrogryposis, spinal stiffness and rare polyglucosan bodies in muscle. ⁶¹	Malfatti E...Romero NB	27546458	2016
21	Distinctly Elevated Chitotriosidase Activity in a Child with Congenital Andersen Disease (Glycogen Storage Disease Type IV). ⁶¹	Schanzer A...Hahn A	27442143	2016
22	A novel GBE1 gene variant in a child with glycogen storage disease type IV. ⁶¹	Said SM...Zhang L	27107456	2016
23	Glycogen Storage Disease Type IV: A Case With Histopathologic Findings in First-Trimester Placental Tissue. ⁶¹	Bendroth-Asmussen L...Lund AM	26166723	2016
24	A Modified Enzymatic Method for Measurement of Glycogen Content in Glycogen Storage Disease Type IV. ⁶¹	Yi H...Sun B	27344645	2016
25	A novel mouse model that recapitulates adult-onset glycogenosis type 4. ⁶¹	Orhan Akman H...Craigen WJ	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	Troisi RI...Broering D	25811211	2014
27	A Rare Cause of Elevated Chitotriosidase Activity: Glycogen Storage Disease Type IV. ⁶¹	Hizarcioglu-Gulsen H...Ceylaner S	25155778	2014
28	Glycogen Storage Disease Type IV ⁶¹	Magoulas PL...El-Hattab AW	23285490	2013
29	Could GSD type I expand the spectrum of disorders with elevated plasma chitotriosidase activity? ⁶¹	Tumer L...Hasanoglu A	23813353	2013
30	Neonatal presentation of lethal neuromuscular glycogen storage disease type IV. ⁶¹	Escobar LF...Wareham J	23014386	2012
31	Diffuse reticuloendothelial system involvement in type IV glycogen storage disease with a novel GBE1 mutation: a case report and review. ⁶¹	Magoulas PL...Craigen WJ	22305237	2012
32	Association of the congenital neuromuscular form of glycogen storage disease type IV with a large deletion and recurrent frameshift mutation. ⁶¹	Li SC...Lee NC	21917543	2012
33	Cardiac Involvement in Glycogen Storage Disease Type IV: Two Cases and the Two Ends of a Spectrum. ⁶¹	Aksu T...Tufekcioglu O	23056054	2012
34	Generation of a novel mouse model that recapitulates early and adult onset glycogenosis type IV. ⁶¹	Akman HO...Craigen WJ	21856731	2011
35	Favorable outcome of primary liver transplantation in children with cirrhosis and hepatocellular carcinoma. ⁶¹	Romano F...D'Antiga L	21797955	2011
36	Liver biopsy is an important procedure in the diagnosis of glycogen storage disease type IV. ⁶¹	Mizuochi T...Kage M	21342345	2011
37	Glycogen-branching enzyme deficiency leads to abnormal cardiac development: novel insights into glycogen storage disease IV. ⁶¹	Lee YC...Yan YT	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	Taratuto AL...DiMauro S	20833045	2010
39	Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder. ⁶¹	Li SC...Bali DS	20058079	2010
40	Non-lethal neonatal neuromuscular variant of glycogenosis type IV with novel GBE1 mutations. ⁶¹	Fernandez C...Pellissier JF	19813197	2010
41	PGD for glycogen storage disease type IV: birth of healthy twins following successful clinical application of a mutation-specific protocol. ⁶¹	Destouni A...Kanavakis E	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	Lamperti C...Moggio M	19357989	2009
43	Living Donor Liver Transplantation in a Korean Child with Glycogen Storage Disease Type IV and a GBE1 Mutation. ⁶¹	Ban HR...Chung KS	20479904	2009
44	Placental involvement in glycogen storage disease type IV. ⁶¹	Konstantinidou AE...Patsouris E	18289670	2008
45	A case of congenital glycogen storage disease type IV with a novel GBE1 mutation. ⁶¹	Raju GP...Kang PB	18230843	2008
46	Null mutations and lethal congenital form of glycogen storage disease type IV. ⁶¹	Assereto S...Bruno C	17662246	2007
47	Neuromuscular forms of glycogen branching enzyme deficiency. ⁶¹	Bruno C...Di Mauro S	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	Fyfe JC...Henthorn PS	17257876	2007
49	Hepatic disease as the first manifestation of progressive myoclonus epilepsy of Lafora. ⁶¹	Gomez-Garre P...Serratosa JM	17452581	2007
50	Prenatal diagnosis of glycogen storage disease type IV. ⁶¹	Akman HO...Petersen MB	16874838	2006

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

Genes related to Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	GBE1	1,4-Alpha-Glucan Branching Enzyme 1	Protein Coding	425	Pathogenic ⁶ Likely pathogenic ⁶
2	RBCK1	RANBP2-Type And C3HC4-Type Zinc Finger Containing 1	Protein Coding	400	Pathogenic ⁶

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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

Sources

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.

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

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

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

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