GSD4
MCID: GLY007
MIFTS: 55

Glycogen Storage Disease Iv (GSD4) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Liver diseases, Metabolic diseases, Cardiovascular diseases, Blood diseases, Muscle diseases, Nephrological diseases, Endocrine diseases

Aliases & Classifications for Glycogen Storage Disease Iv

Aliases & Descriptions for Glycogen Storage Disease Iv:

Name: Glycogen Storage Disease Iv 54 12 23 25 66 13 14
Glycogen Storage Disease Type Iv 23 24 25 52 42 69
Glycogen Branching Enzyme Deficiency 23 50 24 25 66
Andersen Disease 23 50 24 25 66
Gsd Iv 23 50 24 25 66
Amylopectinosis 12 50 25 66
Glycogen Storage Disease Type 4 50 25
Glycogen Storage Disease 4 66 29
Brancher Deficiency 50 25
Glycogenosis Iv 23 66
Glycogenosis 4 50 25
Gsd4 25 66
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic and Myopathic Form 56
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form 56
Glycogenosis Due to Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic and Myopathic Form 56
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form 56
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form 56
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form 56
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form 56
Gsd Due to Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic and Myopathic Form 56
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form 56
Glycogenosis Due to Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form 56
Glycogenosis Due to Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form 56
Glycogenosis Due to Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form 56
Glycogenosis Due to Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form 56
Gsd Due to Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form 56
Glycogenosis Due to Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form 56
Glycogenosis Due to Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form 56
Glycogen Storage Disease Type Iv, Childhood Combined Hepatic and Myopathic Form 56
Gsd Due to Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form 56
Glycogen Storage Disease Type 4, Childhood Combined Hepatic and Myopathic Form 56
Gsd Due to Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form 56
Gsd Due to Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form 56
Gsd Due to Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form 56
Gsd Due to Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form 56
Glycogen Storage Disease Type Iv, Fatal Perinatal Neuromuscular Form 56
Glycogenosis Type Iv, Childhood Combined Hepatic and Myopathic Form 56
Glycogen Storage Disease Type 4, Fatal Perinatal Neuromuscular Form 56
Glycogenosis Type 4, Childhood Combined Hepatic and Myopathic Form 56
Glycogen Storage Disease Type Iv, Congenital Neuromuscular Form 56
Glycogen Storage Disease Type Iv, Childhood Neuromuscular Form 56
Glycogen Storage Disease Type 4, Congenital Neuromuscular Form 56
Glycogen Storage Disease Type Iv, Non Progressive Hepatic Form 56
Glycogen Storage Disease Type 4, Childhood Neuromuscular Form 56
Gbe Deficiency, Childhood Combined Hepatic and Myopathic Form 56
Glycogen Storage Disease Type 4, Non Progressive Hepatic Form 56
Glycogen Storage Disease Type Iv, Adult Neuromuscular Form 56
Glycogen Storage Disease Type Iv, Progressive Hepatic Form 56
Cirrhosis, Familial, with Deposition of Abnormal Glycogen 50
Glycogen Storage Disease Type 4, Adult Neuromuscular Form 56
Gsd Type 4, Childhood Combined Hepatic and Myopathic Form 56
Glycogen Storage Disease Type 4, Progressive Hepatic Form 56
Glycogenosis Type Iv, Fatal Perinatal Neuromuscular Form 56
Glycogenosis Type 4, Fatal Perinatal Neuromuscular Form 56
Gsdiv, Childhood Combined Hepatic and Myopathic Form 56
Glycogenosis Type Iv, Congenital Neuromuscular Form 56
Glycogenosis Type Iv, Childhood Neuromuscular Form 56
Glycogenosis Type 4, Congenital Neuromuscular Form 56
Gbe Deficiency, Fatal Perinatal Neuromuscular Form 56
Glycogenosis Type Iv, Non Progressive Hepatic Form 56
Glycogenosis Type 4, Childhood Neuromuscular Form 56
Glycogenosis Type 4, Non Progressive Hepatic Form 56
Deficiency of 1,4-Alpha-Glucan Branching Enzyme 12
Glycogenosis Type Iv, Adult Neuromuscular Form 56
Gsd Type 4, Fatal Perinatal Neuromuscular Form 56
Glycogenosis Type Iv, Progressive Hepatic Form 56
Branching-Transferase Deficiency Glycogenosis 12
Glycogenosis Type 4, Adult Neuromuscular Form 56
Gbe Deficiency, Congenital Neuromuscular Form 56
Glycogenosis Type 4, Progressive Hepatic Form 56
Gbe Deficiency, Childhood Neuromuscular Form 56
Gbe Deficiency, Non Progressive Hepatic Form 56
Gsd Type 4, Congenital Neuromuscular Form 56
Gsdiv, Fatal Perinatal Neuromuscular Form 56
Gsd Type 4, Childhood Neuromuscular Form 56
Gbe Deficiency, Adult Neuromuscular Form 56
Gsd Type 4, Non Progressive Hepatic Form 56
Gbe Deficiency, Progressive Hepatic Form 56
Gsd Type 4, Adult Neuromuscular Form 56
Gsdiv, Congenital Neuromuscular Form 56
Gsd Type 4, Progressive Hepatic Form 56
Gsdiv, Childhood Neuromuscular Form 56
Gsdiv, Non Progressive Hepatic Form 56
Glycogen Storage Disease, Type Iv 12
Brancher Deficiency Glycogenosis 12
Gsdiv, Adult Neuromuscular Form 56
Gsdiv, Progressive Hepatic Form 56
Branching Enzyme Deficiency 25
Glycogen Branching Enzyme 13
Andersen Glycogenosis 25
Glycogenosis, Type Iv 25
Glycogenosis Type Iv 24
Type Iv Glycogenosis 25
Andersen's Disease 25
Gbe1 Deficiency 66
Gsd Type Iv 25
Gsd-Iv 66
Gsd 4 50
Gsdiv 24

Characteristics:

GeneReviews:

23
glycogen storage disease iv:
Inheritance autosomal recessive inheritance


GeneReviews:

23
Penetrance Penetrance for gsd iv is complete in those with biallelic pathogenic variants but shows extensive clinical variability between families and may show age-related progression of symptoms over time...

Classifications:



Summaries for Glycogen Storage Disease Iv

NIH Rare Diseases : 50 glycogen storage disease type 4 (gsd 4) is part of a group of disorders which lead to abnormal accumulation of glycogen (a storage form of glucose) in various parts of the body. symptoms of gsd 4 usually begin in infancy and typically include failure to thrive; enlarged liver and spleen (hepatosplenomegaly); and in many cases, progressive liver cirrhosis and liver failure. in rare cases individuals may have a form with non-progressive liver disease, or a severe neuromuscular form. gsd 4 is caused by mutations in the gbe1 gene and is inherited in an autosomal recessive manner. treatment typically focuses on the specific symptoms that are present in each individual. last updated: 12/23/2012

MalaCards based summary : Glycogen Storage Disease Iv, also known as glycogen storage disease type iv, is related to hydrops fetalis, nonimmune and glycogen storage disease vi, and has symptoms including edema, muscle weakness and hepatosplenomegaly. An important gene associated with Glycogen Storage Disease Iv is GBE1 (1,4-Alpha-Glucan Branching Enzyme 1), and among its related pathways/superpathways are Glycosaminoglycan metabolism and Glucose metabolism. The drugs Methotrexate and rituximab have been mentioned in the context of this disorder. Affiliated tissues include liver, spleen and skeletal muscle, and related phenotype is liver/biliary system.

Genetics Home Reference : 25 Glycogen storage disease type IV (GSD IV) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulated glycogen is structurally abnormal and impairs the function of certain organs and tissues, especially the liver and muscles. There are five types of GSD IV, which are distinguished by their severity, signs, and symptoms.

UniProtKB/Swiss-Prot : 66 Glycogen storage disease 4: A metabolic disorder characterized by the accumulation of an amylopectin-like polysaccharide. The typical clinical manifestation is liver disease of childhood, progressing to lethal hepatic cirrhosis. Most children with this condition die before two years of age. However, the liver disease is not always progressive. No treatment apart from liver transplantation has been found to prevent progression of the disease. There is also a neuromuscular form of glycogen storage disease type 4 that varies in onset (perinatal, congenital, juvenile, or adult) and severity.

Description from OMIM: 232500
GeneReviews: NBK115333

Related Diseases for Glycogen Storage Disease Iv

Graphical network of the top 20 diseases related to Glycogen Storage Disease Iv:



Diseases related to Glycogen Storage Disease Iv

Symptoms & Phenotypes for Glycogen Storage Disease Iv

Symptoms by clinical synopsis from OMIM:

232500

Clinical features from OMIM:

232500

Human phenotypes related to Glycogen Storage Disease Iv:

32 (show all 18)
id Description HPO Frequency HPO Source Accession
1 edema 32 HP:0000969
2 muscle weakness 32 HP:0001324
3 hepatosplenomegaly 32 HP:0001433
4 muscular hypotonia 32 HP:0001252
5 failure to thrive 32 HP:0001508
6 portal hypertension 32 HP:0001409
7 ascites 32 HP:0001541
8 skeletal muscle atrophy 32 HP:0003202
9 hydrops fetalis 32 HP:0001789
10 cirrhosis 32 HP:0001394
11 cardiomyopathy 32 HP:0001638
12 reduced tendon reflexes 32 HP:0001315
13 arthrogryposis multiplex congenita 32 HP:0002804
14 polyhydramnios 32 HP:0001561
15 hepatic failure 32 HP:0001399
16 esophageal varix 32 HP:0002040
17 decreased fetal movement 32 HP:0001558
18 tubulointerstitial fibrosis 32 HP:0005576

UMLS symptoms related to Glycogen Storage Disease Iv:


hepatosplenomegaly, muscle weakness

MGI Mouse Phenotypes related to Glycogen Storage Disease Iv:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 8.92 AGL G6PC GBE1 RBCK1

Drugs & Therapeutics for Glycogen Storage Disease Iv

Drugs for Glycogen Storage Disease Iv (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 59)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methotrexate Approved Phase 4 1959-05-2, 59-05-2 126941
2
rituximab Approved Phase 4 174722-31-7 10201696
3
Cyclophosphamide Approved, Investigational Phase 4 50-18-0, 6055-19-2 2907
4
Bortezomib Approved, Investigational Phase 4 179324-69-7 387447 93860
5
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
6
leucovorin Approved, Nutraceutical Phase 4 58-05-9 54575, 6560146 143
7 Antimetabolites Phase 4
8 Antimetabolites, Antineoplastic Phase 4
9 Antirheumatic Agents Phase 4
10 Dermatologic Agents Phase 4
11 Folic Acid Antagonists Phase 4
12 Immunosuppressive Agents Phase 4
13 Nucleic Acid Synthesis Inhibitors Phase 4
14 Vitamin B Complex Phase 4
15 Adrenergic Agents Phase 4,Phase 1,Phase 2
16 Adrenergic Agonists Phase 4,Phase 1,Phase 2
17 Adrenergic beta-2 Receptor Agonists Phase 4,Phase 1,Phase 2
18 Adrenergic beta-Agonists Phase 4,Phase 1,Phase 2
19 Albuterol Phase 4,Phase 1,Phase 2
20 Anti-Asthmatic Agents Phase 4,Phase 1,Phase 2
21 Autonomic Agents Phase 4,Phase 1,Phase 2
22 Bronchodilator Agents Phase 4,Phase 1,Phase 2
23 Neurotransmitter Agents Phase 4,Phase 1,Phase 2,Early Phase 1
24 Peripheral Nervous System Agents Phase 4,Phase 1,Phase 2
25 Respiratory System Agents Phase 4,Phase 1,Phase 2
26 Tocolytic Agents Phase 4,Phase 1,Phase 2
27 Gastrointestinal Agents Phase 4
28 glucagon Phase 4
29 Glucagon-Like Peptide 1 Phase 4
30 Hormone Antagonists Phase 4
31 Hormones Phase 4
32 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
33 Incretins Phase 4
34 Alkylating Agents Phase 4
35 Antineoplastic Agents, Alkylating Phase 4
36 Antibodies Phase 4,Phase 1
37 gamma-Globulins Phase 4
38 Immunoglobulins Phase 4,Phase 1
39 Immunoglobulins, Intravenous Phase 4
40 Rho(D) Immune Globulin Phase 4
41 Folate Nutraceutical Phase 4
42 Vitamin B9 Nutraceutical Phase 4
43
Miglustat Approved Phase 1 72599-27-0 51634
44
1-Deoxynojirimycin Experimental Phase 1 19130-96-2 1374
45 Anti-HIV Agents Phase 1
46 Anti-Infective Agents Phase 1
47 Anti-Retroviral Agents Phase 1
48 Antiviral Agents Phase 1
49 Cardiac Glycosides Phase 1
50 Glycoside Hydrolase Inhibitors Phase 1

Interventional clinical trials:

(show all 44)
id Name Status NCT ID Phase
1 CPAP for Infantile Pompe Disease Unknown status NCT02405624 Phase 4
2 Exploratory Muscle Biopsy Assessment Study in Patients With Late-Onset Pompe Disease Treated With Alglucosidase Alfa Completed NCT01288027 Phase 4
3 An Exploratory Study of the Safety and Efficacy of Prophylactic Immunomodulatory Treatment in Myozyme-naive Cross-Reacting Immunologic Material (CRIM[-]) Patients With Infantile-Onset Pompe Disease Completed NCT00701129 Phase 4
4 High Dose or High Dose Frequency Study of Alglucosidase Alfa Completed NCT00483379 Phase 4
5 Late-Onset Treatment Study Extension Protocol Completed NCT00455195 Phase 4
6 Evaluation of Salbutamol as an Adjuvant Therapy for Pompe Disease Completed NCT02405598 Phase 4
7 Glucagon Efficiency After High and Low Carbohydrate Diet Completed NCT02578498 Phase 4
8 Pharmacokinetics of Alglucosidase Alfa in Patients With Pompe Disease Recruiting NCT01410890 Phase 4
9 Immune Tolerance Induction Study Recruiting NCT00701701 Phase 4
10 Pompe Pregnancy Sub-Registry Recruiting NCT00567073 Phase 4
11 Pompe Lactation Sub-Registry Recruiting NCT00566878 Phase 4
12 Immune Modulation Therapy for Pompe Disease Recruiting NCT02525172 Phase 4
13 Growth and Development Study of Alglucosidase Alfa. Active, not recruiting NCT00486889 Phase 4
14 A Noninferiority Study of Alglucosidase Alfa Manufactured at the 160 L and 4000 L Scales in Treatment Naïve Patients With Infantile-Onset Pompe Disease Terminated NCT01597596 Phase 4
15 A Study to Evaluate the Efficacy and Safety of Alglucosidase Alfa Produced at the 4000 L Scale for Pompe Disease Terminated NCT01526785 Phase 4
16 A Placebo-Controlled Study of Safety and Effectiveness of Myozyme (Alglucosidase Alfa) in Patients With Late-Onset Pompe Disease Completed NCT00158600 Phase 3
17 NeoGAA Extension Study Enrolling by invitation NCT02032524 Phase 2, Phase 3
18 BMN 701 Phase 3 in rhGAA Exposed Subjects With Late Onset Pompe Disease (INSPIRE Study) Terminated NCT01924845 Phase 3
19 Triheptanoin Treatment Trial for Patients With Adult Polyglucosan Body Disease Completed NCT00947960 Phase 2
20 Safety and Efficacy of Albuterol on Motor Function in Individuals With Late-onset Pompe Disease Receiving Enzyme Replacement Therapy Completed NCT01885936 Phase 1, Phase 2
21 Safety Study of Recombinant Adeno-Associated Virus Acid Alpha-Glucosidase to Treat Pompe Disease Completed NCT00976352 Phase 1, Phase 2
22 Drug-drug Interaction Study Completed NCT01380743 Phase 2
23 Safety/Tolerability/Pharmacokinetic (PK)/Pharmacodynamics (PD) Study of BMN701 in Patients With Late-Onset Pompe Disease Completed NCT01230801 Phase 1, Phase 2
24 VAL-1221 Delivered Intravenously in Ambulatory and Ventilator-free Patients With Late-Onset Pompe Disease Recruiting NCT02898753 Phase 1, Phase 2
25 Extension Study for Patients Who Have Participated in a BMN 701 Study Active, not recruiting NCT01435772 Phase 2
26 Diet Treatment Glucose Transporter Type 1 Deficiency (G1D) Not yet recruiting NCT03181399 Phase 2
27 Albuterol in Individuals With Late Onset Pompe Disease (LOPD) Completed NCT01859624 Phase 1
28 Safety and Efficacy Evaluation of Repeat neoGAA Dosing in Late Onset Pompe Disease Patients. Completed NCT01898364 Phase 1
29 A Pilot Study of Zavesca® in Patients With Pompe Disease and Infusion Associated Reaction Recruiting NCT02185651 Phase 1
30 Treatment Development of Triheptanoin (G1D) Recruiting NCT03041363 Phase 1
31 A Clinical Study to Assess the Effects of SRT2104 Upon Immobilization-Induced Skeletal Muscle Atrophy in Healthy Human Volunteers Withdrawn NCT01039909 Phase 1
32 Prospective Follow-up of Patients With Glycogen Storage Disease Type III Unknown status NCT01563705
33 Detection of Pompe Disease in Adult Patients With Myopathies of Uncertain Origin or With Asymptomatic Hyper-CK-emia Unknown status NCT01482494
34 Alglucosidase Alfa Temporary Access Program Approved for marketing NCT00520143
35 Glycogen Storage Disease Type IV Database Recruiting NCT02683512
36 Biomarker for Glycogen Storage Diseases Recruiting NCT02385162
37 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Recruiting NCT02635269
38 Energy Supplements to Improve Exercise Tolerance in Metabolic Myopathies Recruiting NCT02448667
39 Investigating Pompe Prevalence in Neuromuscular Medicine Academic Practices Recruiting NCT02838368
40 A Pilot Study of Pyridostigmine in Pompe Disease Recruiting NCT02357225 Early Phase 1
41 Pompe Telemedicine Developmental Study Recruiting NCT02950298
42 Safety and Effectiveness of Resistance Exercise Training in Patients With Pompe Disease. Recruiting NCT02654886
43 Alglucosidase Alfa Pompe Safety Sub-Registry Recruiting NCT01710813
44 Diet and Exercise in Pompe Disease Not yet recruiting NCT02363153

Search NIH Clinical Center for Glycogen Storage Disease Iv

Cochrane evidence based reviews: glycogen storage disease type iv

Genetic Tests for Glycogen Storage Disease Iv

Genetic tests related to Glycogen Storage Disease Iv:

id Genetic test Affiliating Genes
1 Glycogen Storage Disease, Type Iv 29
2 Glycogen Storage Disease Type Iv 24 GBE1

Anatomical Context for Glycogen Storage Disease Iv

MalaCards organs/tissues related to Glycogen Storage Disease Iv:

39
Liver, Spleen, Skeletal Muscle

Publications for Glycogen Storage Disease Iv

Articles related to Glycogen Storage Disease Iv:

id Title Authors Year
1
Glycogen-branching enzyme deficiency leads to abnormal cardiac development: novel insights into glycogen storage disease IV. ( 21075835 )
2011
2
Anesthetic management in a child with Glycogen Storage Disease IV. ( 20519014 )
2010
3
Glycogen branching enzyme (GBE1) mutation causing equine glycogen storage disease IV. ( 15366377 )
2004
4
Genetic mapping of GBE1 and its association with glycogen storage disease IV in American Quarter horses. ( 14970703 )
2003
5
Studies in glycogen storage disease. IV. Leukocyte phosphorylase in a family with type VI GSD. ( 4313495 )
1970

Variations for Glycogen Storage Disease Iv

UniProtKB/Swiss-Prot genetic disease variations for Glycogen Storage Disease Iv:

66
id Symbol AA change Variation ID SNP ID
1 GBE1 p.Leu224Pro VAR_022429 rs137852886
2 GBE1 p.Phe257Leu VAR_022430 rs137852887
3 GBE1 p.Tyr329Ser VAR_022431 rs80338671
4 GBE1 p.Arg515Cys VAR_022432 rs80338672
5 GBE1 p.Arg524Gln VAR_022434 rs80338673
6 GBE1 p.His545Arg VAR_022435 rs137852889
7 GBE1 p.His628Arg VAR_022436 rs137852891

ClinVar genetic disease variations for Glycogen Storage Disease Iv:

6 (show top 50) (show all 88)
id Gene Variation Type Significance SNP ID Assembly Location
1 AGL NM_000642.2(AGL): c.4529dupA (p.Tyr1510Terfs) duplication Pathogenic/Likely pathogenic rs387906244 GRCh37 Chromosome 1, 100387137: 100387137
2 AGL NM_000642.2(AGL): c.16C> T (p.Gln6Ter) single nucleotide variant Pathogenic/Likely pathogenic rs113994126 GRCh37 Chromosome 1, 100316614: 100316614
3 AGL NM_000642.2(AGL): c.2039G> A (p.Trp680Ter) single nucleotide variant Pathogenic rs113994129 GRCh37 Chromosome 1, 100346885: 100346885
4 AGL NM_000642.2(AGL): c.4456delT (p.Ser1486Profs) deletion Pathogenic rs113994134 GRCh37 Chromosome 1, 100382262: 100382262
5 AGL NM_000642.2(AGL): c.4260-12A> G single nucleotide variant Pathogenic/Likely pathogenic rs369973784 GRCh37 Chromosome 1, 100381954: 100381954
6 AGL NM_000642.2(AGL): c.1735+1G> T single nucleotide variant Pathogenic/Likely pathogenic rs199922945 GRCh37 Chromosome 1, 100345603: 100345603
7 AGL NM_000642.2(AGL): c.3965delT (p.Val1322Alafs) deletion Pathogenic rs113994132 GRCh37 Chromosome 1, 100379098: 100379098
8 AGL NM_000642.2(AGL): c.1222C> T (p.Arg408Ter) single nucleotide variant Pathogenic rs113994128 GRCh37 Chromosome 1, 100340950: 100340950
9 AGL NM_000642.2(AGL): c.3980G> A (p.Trp1327Ter) single nucleotide variant Pathogenic/Likely pathogenic rs267606640 GRCh37 Chromosome 1, 100379113: 100379113
10 GBE1 NM_000158.3(GBE1): c.986A> C (p.Tyr329Ser) single nucleotide variant Pathogenic rs80338671 GRCh37 Chromosome 3, 81691938: 81691938
11 GBE1 NM_000158.3(GBE1): c.671T> C (p.Leu224Pro) single nucleotide variant Pathogenic rs137852886 GRCh37 Chromosome 3, 81698027: 81698027
12 GBE1 NM_000158.3(GBE1): c.1543C> T (p.Arg515Cys) single nucleotide variant Pathogenic rs80338672 GRCh37 Chromosome 3, 81627151: 81627151
13 GBE1 NM_000158.3(GBE1): c.771T> A (p.Phe257Leu) single nucleotide variant Pathogenic rs137852887 GRCh37 Chromosome 3, 81695554: 81695554
14 GBE1 NM_000158.3(GBE1): c.1570C> T (p.Arg524Ter) single nucleotide variant Pathogenic rs137852888 GRCh37 Chromosome 3, 81627124: 81627124
15 GBE1 NM_000158.3(GBE1): c.1571G> A (p.Arg524Gln) single nucleotide variant Pathogenic rs80338673 GRCh37 Chromosome 3, 81627123: 81627123
16 GBE1 NM_000158.3(GBE1): c.993-?_1618+?del deletion Pathogenic GRCh37 Chromosome 3, 81586246: 81691932
17 GBE1 NM_000158.3(GBE1): c.143+1G> A single nucleotide variant Pathogenic rs397515343 GRCh37 Chromosome 3, 81810525: 81810525
18 GBE1 NM_000158.3(GBE1): c.1634A> G (p.His545Arg) single nucleotide variant Pathogenic rs137852889 GRCh37 Chromosome 3, 81586231: 81586231
19 GBE1 NM_000158.3(GBE1): c.1774G> T (p.Glu592Ter) single nucleotide variant Pathogenic rs137852890 GRCh37 Chromosome 3, 81586091: 81586091
20 GBE1 NM_000158.3(GBE1): c.1883A> G (p.His628Arg) single nucleotide variant Pathogenic rs137852891 GRCh37 Chromosome 3, 81584397: 81584397
21 GBE1 NM_000158.3(GBE1): c.691+5G> C single nucleotide variant Pathogenic rs397515344 GRCh37 Chromosome 3, 81698002: 81698002
22 GBE1 NM_000158.3(GBE1): c.1643G> A (p.Trp548Ter) single nucleotide variant Pathogenic rs137852894 GRCh37 Chromosome 3, 81586222: 81586222
23 AGL NM_000642.2(AGL): c.2590C> T (p.Arg864Ter) single nucleotide variant Pathogenic rs113994130 GRCh37 Chromosome 1, 100350168: 100350168
24 AGL NM_000642.2(AGL): c.3682C> T (p.Arg1228Ter) single nucleotide variant Pathogenic rs113994131 GRCh37 Chromosome 1, 100368332: 100368332
25 c.[708G> C]+[784C> T] undetermined variant Pathogenic
26 c.[c.38dupA]+[1571G> A] duplication Pathogenic
27 AGL NM_000642.2(AGL): c.94C> T (p.Gln32Ter) single nucleotide variant Likely pathogenic rs786204489 GRCh38 Chromosome 1, 99861514: 99861514
28 AGL NM_000642.2(AGL): c.100C> T (p.Arg34Ter) single nucleotide variant Likely pathogenic rs781580050 GRCh37 Chromosome 1, 100327076: 100327076
29 AGL NM_000642.2(AGL): c.118C> T (p.Gln40Ter) single nucleotide variant Pathogenic/Likely pathogenic rs771961377 GRCh38 Chromosome 1, 99861538: 99861538
30 AGL NM_000642.2(AGL): c.664+3A> G single nucleotide variant Likely pathogenic rs370792293 GRCh37 Chromosome 1, 100330148: 100330148
31 AGL NM_000642.2(AGL): c.1384delG (p.Val462Terfs) deletion Likely pathogenic rs786204678 GRCh38 Chromosome 1, 99876558: 99876558
32 AGL NM_000642.2(AGL): c.1391dupG (p.Asp465Argfs) duplication Likely pathogenic rs786204616 GRCh38 Chromosome 1, 99876565: 99876565
33 AGL NM_000642.2(AGL): c.2309-1G> A single nucleotide variant Likely pathogenic rs786204481 GRCh38 Chromosome 1, 99884119: 99884119
34 AGL NM_000642.2(AGL): c.3297G> A (p.Trp1099Ter) single nucleotide variant Likely pathogenic rs786204490 GRCh38 Chromosome 1, 99896323: 99896323
35 AGL NM_000642.2(AGL): c.3444C> G (p.Tyr1148Ter) single nucleotide variant Likely pathogenic rs776977863 GRCh38 Chromosome 1, 99900717: 99900717
36 AGL NM_000642.2(AGL): c.4197delA (p.Ala1400Leufs) deletion Likely pathogenic rs786204595 GRCh38 Chromosome 1, 99915424: 99915424
37 AGL NM_000642.2(AGL): c.4221dupA (p.Leu1408Ilefs) duplication Likely pathogenic rs786204655 GRCh38 Chromosome 1, 99915448: 99915448
38 AGL NM_000642.2(AGL): c.1485delT (p.Tyr495Terfs) deletion Pathogenic rs794727051 GRCh37 Chromosome 1, 100343258: 100343258
39 AGL NM_000642.2(AGL): c.18_19delGA (p.Gln6Hisfs) deletion Pathogenic/Likely pathogenic rs113994127 GRCh37 Chromosome 1, 100316616: 100316617
40 AGL NM_000642.2(AGL): c.256C> T (p.Gln86Ter) single nucleotide variant Pathogenic rs193186112 GRCh37 Chromosome 1, 100327232: 100327232
41 AGL NM_000642.2(AGL): c.535_538delTTAG (p.Leu179Asnfs) deletion Pathogenic rs794727706 GRCh37 Chromosome 1, 100330016: 100330019
42 GBE1 NM_000158.3(GBE1): c.691+2T> C single nucleotide variant Pathogenic/Likely pathogenic rs192044702 GRCh37 Chromosome 3, 81698005: 81698005
43 AGL NM_000642.2(AGL): c.772T> C (p.Ser258Pro) single nucleotide variant Likely pathogenic rs886039873 GRCh38 Chromosome 1, 99870507: 99870507
44 AGL NM_000642.2(AGL): c.1282A> G (p.Arg428Gly) single nucleotide variant Likely pathogenic rs886039883 GRCh38 Chromosome 1, 99875454: 99875454
45 AGL NM_000642.2(AGL): c.2681+1G> A single nucleotide variant Pathogenic rs201201443 GRCh37 Chromosome 1, 100350260: 100350260
46 AGL NM_000642.2(AGL): c.2158-1G> A single nucleotide variant Pathogenic rs886043990 GRCh37 Chromosome 1, 100347096: 100347096
47 AGL NM_000642.2(AGL): c.22C> T (p.Arg8Ter) single nucleotide variant Likely pathogenic rs1057516870 GRCh38 Chromosome 1, 99851064: 99851064
48 AGL NM_000642.2(AGL): c.64delC (p.Leu22Serfs) deletion Likely pathogenic rs1057517057 GRCh37 Chromosome 1, 100316662: 100316662
49 AGL NM_000642.2(AGL): c.104T> G (p.Leu35Ter) single nucleotide variant Likely pathogenic rs1057516567 GRCh38 Chromosome 1, 99861524: 99861524
50 AGL NM_000642.2(AGL): c.140dupA (p.Tyr47Terfs) duplication Likely pathogenic rs1057517347 GRCh37 Chromosome 1, 100327116: 100327116

Expression for Glycogen Storage Disease Iv

Search GEO for disease gene expression data for Glycogen Storage Disease Iv.

Pathways for Glycogen Storage Disease Iv

Pathways related to Glycogen Storage Disease Iv according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.41 AGL G6PC GAA GBE1 PYGL
2
Show member pathways
11.93 AGL G6PC GAA GBE1 PYGL
3
Show member pathways
11.41 G6PC PYGL
4 11.33 G6PC PYGL
5
Show member pathways
11.1 AGL G6PC GAA GBE1 PYGL
6 10.89 AGL GBE1 PYGL

GO Terms for Glycogen Storage Disease Iv

Cellular components related to Glycogen Storage Disease Iv according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 LUBAC complex GO:0071797 8.62 RBCK1 RNF31

Biological processes related to Glycogen Storage Disease Iv according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.63 AGL GAA PYGL
2 neutrophil degranulation GO:0043312 9.61 AGL GAA PYGL
3 carbohydrate metabolic process GO:0005975 9.56 AGL GAA GBE1 PYGL
4 glucose homeostasis GO:0042593 9.48 G6PC PYGL
5 I-kappaB kinase/NF-kappaB signaling GO:0007249 9.4 RBCK1 RNF31
6 regulation of tumor necrosis factor-mediated signaling pathway GO:0010803 9.37 RBCK1 RNF31
7 glycogen biosynthetic process GO:0005978 9.32 AGL GBE1
8 glycogen catabolic process GO:0005980 9.26 AGL G6PC GAA PYGL
9 protein linear polyubiquitination GO:0097039 9.16 RBCK1 RNF31
10 glycogen metabolic process GO:0005977 9.02 AGL G6PC GAA GBE1 PYGL

Molecular functions related to Glycogen Storage Disease Iv according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 transferase activity, transferring glycosyl groups GO:0016757 9.43 AGL GBE1 PYGL
2 transferase activity GO:0016740 9.43 AGL CPT2 GBE1 PYGL RBCK1 RNF31
3 hydrolase activity, acting on glycosyl bonds GO:0016798 9.37 AGL GAA
4 ubiquitin binding GO:0043130 9.32 RBCK1 RNF31
5 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.16 GAA GBE1
6 carbohydrate binding GO:0030246 8.92 AGL GAA GBE1 PYGL

Sources for Glycogen Storage Disease Iv

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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