GSD3
MCID: GLY019
MIFTS: 50

Glycogen Storage Disease Iiia (GSD3) 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 Iiia

Aliases & Descriptions for Glycogen Storage Disease Iiia:

Name: Glycogen Storage Disease Iiia 54 66 29 13 69
Glycogen Storage Disease Type Iii 23 24 25 56 52 42 69
Cori Disease 23 50 24 25 56 66
Forbes Disease 23 50 25 56 66
Amylo-1,6-Glucosidase Deficiency 50 56 66 69
Glycogen Storage Disease Iiib 54 66 29 69
Glycogen Storage Disease Iii 54 12 66 14
Debrancher Deficiency 23 24 25
Limit Dextrinosis 50 25 56
Gsd Iii 23 24 25
Glycogen Storage Disease Type 3 50 56
Glycogen Debrancher Deficiency 50 25
Glycogen Storage Disease Iiic 66 69
Glycogen Storage Disease Iiid 66 69
Glycogen Storage Disease 3 66 29
Agl Deficiency 25 66
Gde Deficiency 56 66
Gsdiii 24 56
Gsd3 25 66
Glycogen Storage Disease Due to Glycogen Debranching Enzyme Deficiency 56
Glycogenosis Due to Glycogen Debranching Enzyme Deficiency 56
Gsd Due to Glycogen Debranching Enzyme Deficiency 56
Glycogen Debranching Enzyme Deficiency 66
Glycogen Storage Disease, Type Iii 12
Amylo 1,6 Glucosidase Deficiency 12
Deficiency of Debranching Enzyme 12
Deficiency of Dextrin 12
Glycogenosis Type Iii 56
Cori-Forbes Disease 56
Glycogenosis Type 3 56
Cori's Disease 25
Forbe Disease 24
Gsd Type 3 56
Gsd Iiia 66
Gsd Iiib 66
Gsd Iiic 66
Gsd Iiid 66
Gsd-Iii 66

Characteristics:

Orphanet epidemiological data:

56
glycogen storage disease due to glycogen debranching enzyme deficiency
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: any age;

HPO:

32
glycogen storage disease iiia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 232400
Disease Ontology 12 DOID:2748
ICD10 33 E74.03
MeSH 42 D006010
NCIt 47 C84736
SNOMED-CT 64 124474000 66937008
Orphanet 56 ORPHA366
ICD10 via Orphanet 34 E74.0
UMLS via Orphanet 70 C0017922 C2936915
UMLS 69 C0017922

Summaries for Glycogen Storage Disease Iiia

NIH Rare Diseases : 50 glycogen storage disease type 3 (gsdiii) is an inherited disorder caused by the buildup of glycogen in the body's cells. this buildup impairs the function of certain organs and tissues, especially the liver and muscles. symptoms typically begin in infancy and may include hypoglycemia, hyperlipidemia (excess of fats in the blood), and elevated blood levels of liver enzymes; later symptoms may include hepatomegaly, chronic liver disease (cirrhosis) and liver failure later in life. some individuals have short stature and noncancerous (benign) tumors called adenomas in the liver. gsdiii is cause by mutations in the agl gene and is inherited in an autosomal recessive manner. treatment typically includes a high-protein diet with cornstarch supplementation to maintain a normal level of glucose in the blood. gsdiii is divided into types iiia, iiib, iiic, and iiid; types iiia and iiic mainly affect the liver and muscles, and gsd types iiib and iiid typically affect only the liver. last updated: 2/13/2012

MalaCards based summary : Glycogen Storage Disease Iiia, also known as glycogen storage disease type iii, is related to cardiomyopathy and neurogenic arthropathy, and has symptoms including short stature, intellectual disability, mild and myopathy. An important gene associated with Glycogen Storage Disease Iiia is AGL (Amylo-Alpha-1, 6-Glucosidase, 4-Alpha-Glucanotransferase), 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 and eye.

Genetics Home Reference : 25 Glycogen storage disease type III (also known as GSDIII or Cori disease) 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.

OMIM : 54 Glycogen storage disease III is an autosomal recessive metabolic disorder caused by deficiency of the glycogen... (232400) more...

UniProtKB/Swiss-Prot : 66 Glycogen storage disease 3: A metabolic disorder associated with an accumulation of abnormal glycogen with short outer chains. It is clinically characterized by hepatomegaly, hypoglycemia, short stature, and variable myopathy. Glycogen storage disease type 3 includes different forms: GSD type 3A patients lack glycogen debrancher enzyme activity in both liver and muscle, while GSD type 3B patients are enzyme-deficient in liver only. In rare cases, selective loss of only 1 of the 2 debranching activities, glucosidase or transferase, results in GSD type 3C or type 3D, respectively.

Wikipedia : 71 Glycogen storage disease type III is an autosomal recessive metabolic disorder and inborn error of... more...

GeneReviews: NBK26372

Related Diseases for Glycogen Storage Disease Iiia

Diseases in the Glycogen Storage Disease family:

Glycogen Storage Disease Iiia Glycogen Storage Disease Iv
Glycogen Storage Disease Xv Glycogen Storage Disease X
Glycogen Storage Disease Ib Glycogen Storage Disease Ic
Glycogen Storage Disease Vii Glycogen Storage Disease Vi
Glycogen Storage Disease Ixc Glycogen Storage Disease Xii
Glycogen Storage Disease Xiii Glycogen Storage Disease Ia
Glycogen Storage Disease Ii Glycogen Storage Disease Ix
Glycogen Storage Disease Ixa Glycogen Storage Disease Viii
Glycogen Storage Disease Type 0

Diseases related to Glycogen Storage Disease Iiia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 22)
id Related Disease Score Top Affiliating Genes
1 cardiomyopathy 10.1
2 neurogenic arthropathy 10.0 G6PC GCG
3 visual cortex disease 10.0 AFP G6PC
4 spinal muscular atrophy, lower extremity-predominant, 2, ad 10.0 AGL G6PC GCG
5 gemistocytic astrocytoma 10.0 CALCA GCG
6 novak syndrome 10.0 AFP G6PC
7 hyperphenylalaninemia, bh4-deficient, b 9.9 G6PC GCG PYGL
8 atrophic rhinitis 9.9 AFP G6PC
9 diabetes mellitus, noninsulin-dependent, 2 9.9 AFP G6PC
10 glycogen storage disease 9.9
11 gastrinoma 9.9 AFP CALCA
12 anuria 9.9 AGL G6PC GAA GBE1
13 alexander disease 9.9 AGL G6PC GBE1 PYGL
14 testicular trophoblastic tumor 9.8 AFP CALCA
15 hepatitis 9.8
16 hyperinsulinism 9.8
17 polymicrogyria 9.8
18 neuromuscular disease 9.7
19 bardet-biedl syndrome 3 9.7 AGL G6PC GAA GBE1 PYGL
20 hemangioma 9.7 AGL G6PC GAA GBE1 PYGL
21 subendocardial myocardial infarction 9.7 AFP CALCA
22 stickler syndrome, type ii 8.8 AFP AGL CALCA G6PC GAA GBE1

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



Diseases related to Glycogen Storage Disease Iiia

Symptoms & Phenotypes for Glycogen Storage Disease Iiia

Symptoms by clinical synopsis from OMIM:

232400

Clinical features from OMIM:

232400

Human phenotypes related to Glycogen Storage Disease Iiia:

56 32 (show all 22)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 Very frequent (99-80%) HP:0004322
2 intellectual disability, mild 56 32 Very frequent (99-80%) HP:0001256
3 myopathy 56 32 Frequent (79-30%) HP:0003198
4 full cheeks 56 32 Very frequent (99-80%) HP:0000293
5 hypoglycemia 56 32 Very frequent (99-80%) HP:0001943
6 hypertriglyceridemia 56 32 Very frequent (99-80%) HP:0002155
7 immunodeficiency 56 32 Very frequent (99-80%) HP:0002721
8 muscle weakness 32 HP:0001324
9 malar flattening 32 HP:0000272
10 hepatomegaly 32 HP:0002240
11 depressed nasal bridge 32 HP:0005280
12 elevated serum creatine phosphokinase 32 HP:0003236
13 elevated hepatic transaminases 32 HP:0002910
14 hepatic fibrosis 32 HP:0001395
15 cardiomyopathy 32 HP:0001638
16 deeply set eye 32 HP:0000490
17 hyperlipidemia 32 HP:0003077
18 broad nasal tip 32 HP:0000455
19 thin upper lip vermilion 32 HP:0000219
20 midface retrusion 32 HP:0011800
21 distal amyotrophy 32 HP:0003693
22 ventricular hypertrophy 32 HP:0001714

Drugs & Therapeutics for Glycogen Storage Disease Iiia

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

(show top 50) (show all 87)
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,Phase 1 174722-31-7 10201696
3
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
4
leucovorin Approved, Nutraceutical Phase 4 58-05-9 54575, 6560146 143
5 Antimetabolites Phase 4
6 Antimetabolites, Antineoplastic Phase 4
7 Antirheumatic Agents Phase 4,Phase 1
8 Dermatologic Agents Phase 4,Phase 1
9 Folic Acid Antagonists Phase 4
10 Immunosuppressive Agents Phase 4,Phase 1
11 Nucleic Acid Synthesis Inhibitors Phase 4
12 Vitamin B Complex Phase 4
13 Gastrointestinal Agents Phase 4,Phase 1
14 glucagon Phase 4
15 Glucagon-Like Peptide 1 Phase 4
16 Hormone Antagonists Phase 4
17 Hormones Phase 4
18 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
19 Incretins Phase 4
20 Folate Nutraceutical Phase 4
21 Vitamin B9 Nutraceutical Phase 4
22 Pharmaceutical Solutions Phase 3,Phase 1
23
Miglustat Approved Phase 1, Phase 2 72599-27-0 51634
24 insulin Phase 2
25 Insulin, Globin Zinc Phase 2
26 Anti-HIV Agents Phase 1, Phase 2
27 Anti-Infective Agents Phase 1, Phase 2
28 Anti-Retroviral Agents Phase 1, Phase 2
29 Antiviral Agents Phase 1, Phase 2
30 Cardiac Glycosides Phase 1, Phase 2
31 Glycoside Hydrolase Inhibitors Phase 1, Phase 2
32 Hypoglycemic Agents Phase 1, Phase 2
33
Benzocaine Approved Phase 1 1994-09-7, 94-09-7 2337
34
Acetaminophen Approved Phase 1 103-90-2 1983
35
Diphenhydramine Approved Phase 1 58-73-1, 147-24-0 3100
36
Everolimus Approved Phase 1 159351-69-6 6442177
37
Histamine Approved, Investigational Phase 1 75614-87-8, 51-45-6 774
38
Lidocaine Approved, Vet_approved Phase 1 137-58-6 3676
39
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
40
Promethazine Approved Phase 1 60-87-7 4927
41
Sirolimus Approved, Investigational Phase 1 53123-88-9 5284616 6436030 46835353
42 tannic acid Approved, Nutraceutical Phase 1
43
1-Deoxynojirimycin Experimental Phase 1 19130-96-2 1374
44 Adrenergic Agents Phase 1
45 Adrenergic Agonists Phase 1
46 Adrenergic beta-2 Receptor Agonists Phase 1
47 Adrenergic beta-Agonists Phase 1
48 Albuterol Phase 1
49 Anti-Asthmatic Agents Phase 1
50 Autonomic Agents Phase 1

Interventional clinical trials:

(show all 44)
id Name Status NCT ID Phase
1 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
2 Exploratory Muscle Biopsy Assessment Study in Patients With Late-Onset Pompe Disease Treated With Alglucosidase Alfa Completed NCT01288027 Phase 4
3 Glucagon Efficiency After High and Low Carbohydrate Diet Completed NCT02578498 Phase 4
4 Pharmacokinetics of Alglucosidase Alfa in Patients With Pompe Disease Recruiting NCT01410890 Phase 4
5 Pompe Pregnancy Sub-Registry Recruiting NCT00567073 Phase 4
6 Pompe Lactation Sub-Registry Recruiting NCT00566878 Phase 4
7 Growth and Development Study of Alglucosidase Alfa. Active, not recruiting NCT00486889 Phase 4
8 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
9 A Study of the Safety and Efficacy of rhGAA in Patients With Infantile-onset Pompe Disease Completed NCT00059280 Phase 2, Phase 3
10 Extension Study of Patients With Infantile-Onset Pompe Disease Who Were Previously Enrolled in Protocol AGLU01602 Completed NCT00125879 Phase 2, Phase 3
11 Safety and Effectiveness Study of rhGAA in Patients With Advanced Late-Onset Pompe Disease Receiving Respiratory Support Completed NCT00268944 Phase 3
12 A Placebo-Controlled Study of Safety and Effectiveness of Myozyme (Alglucosidase Alfa) in Patients With Late-Onset Pompe Disease Completed NCT00158600 Phase 3
13 Study to Compare the Efficacy and Safety of Enzyme Replacement Therapies neoGAA and Alglucosidase Alfa Administered Every Other Week in Patients With Late-onset Pompe Disease Who Have Not Been Previously Treated for Pompe Disease Recruiting NCT02782741 Phase 3
14 NeoGAA Extension Study Enrolling by invitation NCT02032524 Phase 2, Phase 3
15 BMN 701 Phase 3 in rhGAA Exposed Subjects With Late Onset Pompe Disease (INSPIRE Study) Terminated NCT01924845 Phase 3
16 Safety Study of Recombinant Adeno-Associated Virus Acid Alpha-Glucosidase to Treat Pompe Disease Completed NCT00976352 Phase 1, Phase 2
17 Drug-drug Interaction Study Completed NCT01380743 Phase 2
18 Effectiveness of Oral Insulin in Unstable Type 1 Diabetes Patients Completed NCT00867594 Phase 2
19 VAL-1221 Delivered Intravenously in Ambulatory and Ventilator-free Patients With Late-Onset Pompe Disease Recruiting NCT02898753 Phase 1, Phase 2
20 First-In-Human Study to Evaluate Safety, Tolerability, and PK of Intravenous ATB200 Alone and When Co-Administered With Oral AT2221 Active, not recruiting NCT02675465 Phase 1, Phase 2
21 Triheptanoin in Mc Ardle Not yet recruiting NCT02919631 Phase 2
22 Study to Evaluate the Safety of AT2220 in Pompe Disease Terminated NCT00688597 Phase 2
23 High Protein and Exercise Therapy Plus Nocturnal Enteral Feeding in Juvenile-onset Pompe Disease Withdrawn NCT01656590 Phase 2
24 Albuterol in Individuals With Late Onset Pompe Disease (LOPD) Completed NCT01859624 Phase 1
25 A Pilot Study of Zavesca® in Patients With Pompe Disease and Infusion Associated Reaction Recruiting NCT02185651 Phase 1
26 Re-administration of Intramuscular AAV9 in Patients With Late-Onset Pompe Disease Not yet recruiting NCT02240407 Phase 1
27 Prospective Follow-up of Patients With Glycogen Storage Disease Type III Unknown status NCT01563705
28 Sleep and Quality of Life in Patients With Glycogen Storage Disease on Standard Versus Modified Uncooked Cornstarch Completed NCT02054832
29 Overnight Feeding Study in Glycogen Storage Disease Type 1 Completed NCT01961076
30 Study of Glycogen Storage Disease Expression in Carriers Completed NCT02057731
31 Non Invasive Assessment of Liver Glycogen Kinetics and ATP Synthesis in Type1 Diabetics Completed NCT00481598
32 Safety Study of Repeated Doses of Glucagon on Animal Starch in the Liver Completed NCT01986231
33 Energy Supplements to Improve Exercise Tolerance in Metabolic Myopathies Recruiting NCT02448667
34 Biomarker for Glycogen Storage Diseases Recruiting NCT02385162
35 Acute Nutritional Ketosis in GSD IIIa Recruiting NCT03011203
36 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Recruiting NCT02635269
37 Response to Diaphragmatic Pacing in Subjects With Pompe Disease Recruiting NCT02354651
38 Frequency of Pompe's Disease and Neuromuscular Etiologies in Patients With Restrictive Respiratory Failure Associated With Signs of Muscle Weakness Recruiting NCT02746718
39 Investigating Pompe Prevalence in Neuromuscular Medicine Academic Practices Recruiting NCT02838368
40 Safety and Effectiveness of Resistance Exercise Training in Patients With Pompe Disease. Recruiting NCT02654886
41 Shear Wave Sonoelastography in Pediatric Liver Fibrosis Recruiting NCT02372682
42 Lipid and Glycogen Metabolism in Patients With Impaired Glucose Tolerance and Calcium Sensing Receptor Mutations Recruiting NCT02023489
43 3D Echocardiography Managing Infantile Pompe's Disease Terminated NCT00277979
44 Clinical Evaluation of a Non-Invasive Hypoglycemia Detector in a Glycogen Storage Disease Population Terminated NCT02338817

Search NIH Clinical Center for Glycogen Storage Disease Iiia

Cochrane evidence based reviews: glycogen storage disease type iii

Genetic Tests for Glycogen Storage Disease Iiia

Genetic tests related to Glycogen Storage Disease Iiia:

id Genetic test Affiliating Genes
1 Glycogen Storage Disease Type Iii 29 24 AGL
2 Glycogen Storage Disease Iiib 29
3 Glycogen Storage Disease Iiia 29

Anatomical Context for Glycogen Storage Disease Iiia

MalaCards organs/tissues related to Glycogen Storage Disease Iiia:

39
Liver, Eye

Publications for Glycogen Storage Disease Iiia

Articles related to Glycogen Storage Disease Iiia:

id Title Authors Year
1
Inherent lipid metabolic dysfunction in glycogen storage disease IIIa. ( 25451272 )
2014

Variations for Glycogen Storage Disease Iiia

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

66
id Symbol AA change Variation ID SNP ID
1 AGL p.Gly1448Arg VAR_009231 rs118203964

ClinVar genetic disease variations for Glycogen Storage Disease Iiia:

6 (show top 50) (show all 75)
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 AGL, EcoRI FRAGMENT INS undetermined variant Pathogenic
8 AGL NM_000642.2(AGL): c.4342G> C (p.Gly1448Arg) single nucleotide variant Pathogenic rs118203964 GRCh37 Chromosome 1, 100382048: 100382048
9 AGL NM_000642.2(AGL): c.3965delT (p.Val1322Alafs) deletion Pathogenic rs113994132 GRCh37 Chromosome 1, 100379098: 100379098
10 AGL NM_000642.2(AGL): c.1999delC (p.Gln667Argfs) deletion Pathogenic rs387906246 GRCh37 Chromosome 1, 100346731: 100346731
11 AGL AGL, IVS33DS, G-A, +5 single nucleotide variant Pathogenic
12 AGL NM_000642.2(AGL): c.1222C> T (p.Arg408Ter) single nucleotide variant Pathogenic rs113994128 GRCh37 Chromosome 1, 100340950: 100340950
13 AGL NM_000642.2(AGL): c.3439A> G (p.Arg1147Gly) single nucleotide variant Pathogenic rs267606639 GRCh37 Chromosome 1, 100366268: 100366268
14 AGL NM_000642.2(AGL): c.3980G> A (p.Trp1327Ter) single nucleotide variant Pathogenic/Likely pathogenic rs267606640 GRCh37 Chromosome 1, 100379113: 100379113
15 AGL NM_000642.2(AGL): c.2590C> T (p.Arg864Ter) single nucleotide variant Pathogenic rs113994130 GRCh37 Chromosome 1, 100350168: 100350168
16 AGL NM_000642.2(AGL): c.3682C> T (p.Arg1228Ter) single nucleotide variant Pathogenic rs113994131 GRCh37 Chromosome 1, 100368332: 100368332
17 AGL NM_000642.2(AGL): c.94C> T (p.Gln32Ter) single nucleotide variant Likely pathogenic rs786204489 GRCh38 Chromosome 1, 99861514: 99861514
18 AGL NM_000642.2(AGL): c.100C> T (p.Arg34Ter) single nucleotide variant Likely pathogenic rs781580050 GRCh37 Chromosome 1, 100327076: 100327076
19 AGL NM_000642.2(AGL): c.118C> T (p.Gln40Ter) single nucleotide variant Pathogenic/Likely pathogenic rs771961377 GRCh38 Chromosome 1, 99861538: 99861538
20 AGL NM_000642.2(AGL): c.664+3A> G single nucleotide variant Likely pathogenic rs370792293 GRCh37 Chromosome 1, 100330148: 100330148
21 AGL NM_000642.2(AGL): c.1384delG (p.Val462Terfs) deletion Likely pathogenic rs786204678 GRCh38 Chromosome 1, 99876558: 99876558
22 AGL NM_000642.2(AGL): c.1391dupG (p.Asp465Argfs) duplication Likely pathogenic rs786204616 GRCh38 Chromosome 1, 99876565: 99876565
23 AGL NM_000642.2(AGL): c.2309-1G> A single nucleotide variant Likely pathogenic rs786204481 GRCh38 Chromosome 1, 99884119: 99884119
24 AGL NM_000642.2(AGL): c.3297G> A (p.Trp1099Ter) single nucleotide variant Likely pathogenic rs786204490 GRCh38 Chromosome 1, 99896323: 99896323
25 AGL NM_000642.2(AGL): c.3444C> G (p.Tyr1148Ter) single nucleotide variant Likely pathogenic rs776977863 GRCh38 Chromosome 1, 99900717: 99900717
26 AGL NM_000642.2(AGL): c.4197delA (p.Ala1400Leufs) deletion Likely pathogenic rs786204595 GRCh38 Chromosome 1, 99915424: 99915424
27 AGL NM_000642.2(AGL): c.4221dupA (p.Leu1408Ilefs) duplication Likely pathogenic rs786204655 GRCh38 Chromosome 1, 99915448: 99915448
28 AGL NM_000642.2(AGL): c.1485delT (p.Tyr495Terfs) deletion Pathogenic rs794727051 GRCh37 Chromosome 1, 100343258: 100343258
29 AGL NM_000642.2(AGL): c.18_19delGA (p.Gln6Hisfs) deletion Pathogenic/Likely pathogenic rs113994127 GRCh37 Chromosome 1, 100316616: 100316617
30 AGL NM_000642.2(AGL): c.256C> T (p.Gln86Ter) single nucleotide variant Pathogenic rs193186112 GRCh37 Chromosome 1, 100327232: 100327232
31 AGL NM_000642.2(AGL): c.535_538delTTAG (p.Leu179Asnfs) deletion Pathogenic rs794727706 GRCh37 Chromosome 1, 100330016: 100330019
32 AGL NM_000642.2(AGL): c.772T> C (p.Ser258Pro) single nucleotide variant Likely pathogenic rs886039873 GRCh38 Chromosome 1, 99870507: 99870507
33 AGL NM_000642.2(AGL): c.1282A> G (p.Arg428Gly) single nucleotide variant Likely pathogenic rs886039883 GRCh38 Chromosome 1, 99875454: 99875454
34 AGL NM_000642.2(AGL): c.2681+1G> A single nucleotide variant Pathogenic rs201201443 GRCh37 Chromosome 1, 100350260: 100350260
35 AGL NM_000642.2(AGL): c.2158-1G> A single nucleotide variant Pathogenic rs886043990 GRCh37 Chromosome 1, 100347096: 100347096
36 AGL NM_000642.2(AGL): c.22C> T (p.Arg8Ter) single nucleotide variant Likely pathogenic rs1057516870 GRCh38 Chromosome 1, 99851064: 99851064
37 AGL NM_000642.2(AGL): c.64delC (p.Leu22Serfs) deletion Likely pathogenic rs1057517057 GRCh37 Chromosome 1, 100316662: 100316662
38 AGL NM_000642.2(AGL): c.104T> G (p.Leu35Ter) single nucleotide variant Likely pathogenic rs1057516567 GRCh38 Chromosome 1, 99861524: 99861524
39 AGL NM_000642.2(AGL): c.140dupA (p.Tyr47Terfs) duplication Likely pathogenic rs1057517347 GRCh37 Chromosome 1, 100327116: 100327116
40 AGL NM_000642.2(AGL): c.276delG (p.Gln92Hisfs) deletion Pathogenic rs1057517243 GRCh38 Chromosome 1, 99861696: 99861696
41 AGL NM_000642.2(AGL): c.293+1delG deletion Likely pathogenic rs1057516592 GRCh37 Chromosome 1, 100327270: 100327270
42 AGL NM_000642.2(AGL): c.294-2A> T single nucleotide variant Likely pathogenic rs1057516868 GRCh38 Chromosome 1, 99862255: 99862255
43 AGL NM_000642.2(AGL): c.294-1G> C single nucleotide variant Likely pathogenic rs757967016 GRCh38 Chromosome 1, 99862256: 99862256
44 AGL NM_000642.2(AGL): c.348_373del26 (p.Ala117Leufs) deletion Likely pathogenic rs1057516308 GRCh38 Chromosome 1, 99862311: 99862336
45 AGL NM_000642.2(AGL): c.437delG (p.Arg146Asnfs) deletion Likely pathogenic rs1057517344 GRCh38 Chromosome 1, 99862400: 99862400
46 AGL NM_000642.2(AGL): c.442delA (p.Arg148Glyfs) deletion Likely pathogenic rs1057516397 GRCh37 Chromosome 1, 100327961: 100327961
47 AGL NM_000642.2(AGL): c.672dupT (p.Ser225Terfs) duplication Likely pathogenic rs1057516471 GRCh38 Chromosome 1, 99870407: 99870407
48 AGL NM_000642.2(AGL): c.753_756delCAGA (p.Asp251Glufs) deletion Pathogenic rs1057516545 GRCh37 Chromosome 1, 100336044: 100336047
49 AGL NM_000642.2(AGL): c.1078C> T (p.His360Tyr) single nucleotide variant Likely pathogenic rs763554006 GRCh38 Chromosome 1, 99874806: 99874806
50 AGL NM_000642.2(AGL): c.1169_1172delACTA (p.Asn390Ilefs) deletion Likely pathogenic rs1057516741 GRCh38 Chromosome 1, 99875240: 99875243

Expression for Glycogen Storage Disease Iiia

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

Pathways for Glycogen Storage Disease Iiia

Pathways related to Glycogen Storage Disease Iiia 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 11.51 G6PC GCG PYGL
4
Show member pathways
11.1 AGL G6PC GAA GBE1 PYGL
5 11.01 AFP G6PC
6 10.89 AGL GBE1 PYGL

GO Terms for Glycogen Storage Disease Iiia

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

id Name GO ID Score Top Affiliating Genes
1 secretory granule lumen GO:0034774 8.8 AGL GCG PYGL

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

id Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.46 AGL GAA GBE1 PYGL
2 positive regulation of cAMP biosynthetic process GO:0030819 9.37 CALCA GCG
3 feeding behavior GO:0007631 9.32 CALCA GCG
4 glycogen biosynthetic process GO:0005978 9.26 AGL GBE1
5 glycogen catabolic process GO:0005980 9.26 AGL G6PC GAA PYGL
6 glycogen metabolic process GO:0005977 9.02 AGL G6PC GAA GBE1 PYGL

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

id Name GO ID Score Top Affiliating Genes
1 transferase activity, transferring glycosyl groups GO:0016757 9.33 AGL GBE1 PYGL
2 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 8.96 GAA GBE1
3 carbohydrate binding GO:0030246 8.92 AGL GAA GBE1 PYGL

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