GSD3
MCID: GLY003
MIFTS: 59

Glycogen Storage Disease Iii (GSD3)

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

Aliases & Classifications for Glycogen Storage Disease Iii

MalaCards integrated aliases for Glycogen Storage Disease Iii:

Name: Glycogen Storage Disease Iii 57 12 75 15
Glycogen Storage Disease Type Iii 24 25 59 37 29 55 6 44 73
Forbes Disease 57 76 24 53 25 59 75
Glycogen Storage Disease Iiia 57 75 29 13 6 73
Cori Disease 57 24 53 25 59 75
Amylo-1,6-Glucosidase Deficiency 57 53 59 75 73
Glycogen Storage Disease Iiib 57 75 29 6 73
Limit Dextrinosis 57 53 25 59
Glycogen Debrancher Deficiency 57 53 25
Glycogen Storage Disease Iiic 75 6 73
Agl Deficiency 57 25 75
Gde Deficiency 57 59 75
Gsd3 57 25 75
Glycogen Storage Disease Type 3 53 59
Glycogen Storage Disease Iiid 75 73
Debrancher Deficiency 24 25
Gsd Iii 24 25
Glycogen Storage Disease Due to Glycogen Debranching Enzyme Deficiency 59
Glycogenosis Due to Glycogen Debranching Enzyme Deficiency 59
Gsd Due to Glycogen Debranching Enzyme Deficiency 59
Glycogen Debranching Enzyme Deficiency 75
Storage Disease, Glycogen, Type Iii 40
Glycogen Storage Disease, Type Iii 12
Amylo 1,6 Glucosidase Deficiency 12
Deficiency of Debranching Enzyme 12
Glycogen Storage Disease 3 75
Deficiency of Dextrin 12
Glycogenosis Type Iii 59
Cori-Forbes Disease 59
Glycogenosis Type 3 59
Cori's Disease 25
Gsd Type 3 59
Gsd Iiia 75
Gsd Iiib 75
Gsd Iiic 75
Gsd Iiid 75
Gsd-Iii 75
Gsdiii 59

Characteristics:

Orphanet epidemiological data:

59
glycogen storage disease due to glycogen debranching enzyme deficiency
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: any age;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
type iiia has both liver and muscle involvement
type iiib liver involvement only (15% of all cases)
liver symptoms improve with age and disappear after puberty
muscle weakness increases with age


HPO:

32
glycogen storage disease iii:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Glycogen Storage Disease Iii

OMIM : 57 Glycogen storage disease III is an autosomal recessive metabolic disorder caused by deficiency of the glycogen debrancher enzyme and associated with an accumulation of abnormal glycogen with short outer chains. Most patients are enzyme-deficient in both liver and muscle (IIIa), but about 15% are enzyme-deficient in liver only (IIIb) (Shen et al., 1996). These subtypes have been explained by differences in tissue expression of the deficient enzyme (Endo et al., 2006). In rare cases, selective loss of only 1 of the 2 debranching activities, glucosidase or transferase, results in type IIIc or IIId, respectively. (Van Hoof and Hers, 1967; Ding et al., 1990). Clinically, patients with GSD III present in infancy or early childhood with hepatomegaly, hypoglycemia, and growth retardation. Muscle weakness in those with IIIa is minimal in childhood but can become more severe in adults; some patients develop cardiomyopathy (Shen et al., 1996). Lucchiari et al. (2007) provided a review of GSD III. (232400)

MalaCards based summary : Glycogen Storage Disease Iii, also known as glycogen storage disease type iii, is related to glycogen storage disease and liver cirrhosis. An important gene associated with Glycogen Storage Disease Iii is AGL (Amylo-Alpha-1, 6-Glucosidase, 4-Alpha-Glucanotransferase), and among its related pathways/superpathways are Starch and sucrose metabolism and Metabolism. The drugs Hormones and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include liver, eye and skeletal muscle, and related phenotypes are short stature and intellectual disability, mild

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.

NIH Rare Diseases : 53 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.

UniProtKB/Swiss-Prot : 75 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 : 76 Glycogen storage disease type III is an autosomal recessive metabolic disorder and inborn error of... more...

GeneReviews: NBK26372

Related Diseases for Glycogen Storage Disease Iii

Diseases in the Glycogen Storage Disease family:

Glycogen Storage Disease Ia Glycogen Storage Disease Ib
Glycogen Storage Disease Ic Glycogen Storage Disease Ii
Glycogen Storage Disease Iii Glycogen Storage Disease Iv
Glycogen Storage Disease V Glycogen Storage Disease Vi
Glycogen Storage Disease Vii Glycogen Storage Disease X
Glycogen Storage Disease Ixb Glycogen Storage Disease, Type Ixd
Glycogen Storage Disease Xii Glycogen Storage Disease Xiii
Glycogen Storage Disease Ixc Glycogen Storage Disease Xv
Glycogen Storage Disease Ix Glycogen Storage Disease Ixa
Glycogen Storage Disease Viii Glycogen Storage Disease Type 0

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

(show all 37)
# Related Disease Score Top Affiliating Genes
1 glycogen storage disease 30.6 AGL G6PC GAA PYGL
2 liver cirrhosis 10.3
3 glycogen storage disease v 10.3 GAA PYGL
4 hepatocellular carcinoma 10.2
5 diabetes mellitus 10.2
6 myopathy 10.2
7 hypertrophic cardiomyopathy 10.2
8 creatine phosphokinase, elevated serum 10.2 GAA PIK3C2A
9 glycogen storage disease iv 10.2 AGL G6PC GAA
10 tick paralysis 10.2 PIK3C2A TNNI3
11 posterior myocardial infarction 10.1 ALDOB PIK3C2A
12 glycogen storage disease ia 10.1 ALDOB G6PC PYGL
13 erysipelas 10.1 CALCA PIK3C2A
14 atrial standstill 1 10.1 AGL GAA TNNI3
15 carbohydrate metabolic disorder 10.1 AGL ALDOB G6PC GAA
16 toxic myocarditis 10.1 PIK3C2A TNNI3
17 costello syndrome 10.0
18 phenylketonuria 10.0
19 atrial heart septal defect 10.0
20 peripheral nervous system disease 10.0
21 neuropathy 10.0
22 gas gangrene 10.0 PIK3C2A TNNI3
23 arteries, anomalies of 10.0
24 coronary artery anomaly 10.0
25 pericardium disease 10.0 PIK3C2A TNNI3
26 glycogen storage disease ix 10.0 GCG PYGL
27 neuromuscular disease 10.0
28 hyperinsulinemic hypoglycemia, familial, 7 10.0 ALDOB GCG
29 glycogen storage disease vi 9.9 G6PC GCG PYGL
30 hyperuricemia 9.9
31 hyperinsulinism 9.9
32 polymicrogyria 9.9
33 intermediate coronary syndrome 9.9 PIK3C2A TNNI3
34 median arcuate ligament syndrome 9.9 GCG HCK
35 hypoglycemia 9.9 AGL G6PC GCG
36 fructose-1,6-bisphosphatase deficiency 9.9 ALDOB G6PC GCG
37 pancreatic cholera 9.9 CALCA GCG

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



Diseases related to Glycogen Storage Disease Iii

Symptoms & Phenotypes for Glycogen Storage Disease Iii

Symptoms via clinical synopsis from OMIM:

57
Abdomen Liver:
hepatomegaly
hepatic fibrosis

Growth Height:
short stature

Metabolic Features:
hypoglycemia

Cardiovascular Heart:
cardiomyopathy
ventricular hypertrophy on ecg

Head And Neck Face:
midface hypoplasia

Head And Neck Eyes:
deep-set eyes

Head And Neck Nose:
depressed nasal bridge
broad upturned nasal tip

Muscle Soft Tissue:
myopathy
distal muscle wasting
muscle weakness (increases with age)
muscle biopsy shows vacuoles containing pas-positive glycogen

Laboratory Abnormalities:
hypoglycemia
hyperlipidemia
elevated transaminases
increased serum creatine kinase
amylo-1,6-glucosidase deficiency
more
Head And Neck Mouth:
thin vermilion border
bow-shaped lips

Growth Other:
growth retardation


Clinical features from OMIM:

232400

Human phenotypes related to Glycogen Storage Disease Iii:

59 32 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
2 intellectual disability, mild 59 32 hallmark (90%) Very frequent (99-80%) HP:0001256
3 myopathy 59 32 frequent (33%) Frequent (79-30%) HP:0003198
4 full cheeks 59 32 hallmark (90%) Very frequent (99-80%) HP:0000293
5 hypoglycemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001943
6 hypertriglyceridemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002155
7 immunodeficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0002721
8 malar flattening 32 HP:0000272
9 muscle weakness 32 HP:0001324
10 hepatomegaly 32 HP:0002240
11 depressed nasal bridge 32 HP:0005280
12 elevated serum creatine phosphokinase 32 HP:0003236
13 hepatic fibrosis 32 HP:0001395
14 cardiomyopathy 32 HP:0001638
15 deeply set eye 32 HP:0000490
16 hyperlipidemia 32 HP:0003077
17 broad nasal tip 32 HP:0000455
18 thin upper lip vermilion 32 HP:0000219
19 midface retrusion 32 HP:0011800
20 thin vermilion border 32 HP:0000233
21 distal amyotrophy 32 HP:0003693
22 ventricular hypertrophy 32 HP:0001714
23 elevated hepatic transaminase 32 HP:0002910

GenomeRNAi Phenotypes related to Glycogen Storage Disease Iii according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased DCP1a protein expression and assembly in processing bodies after arsenite stimulation GR00203-A 8.8 AGL ALDOB PIK3C2A

MGI Mouse Phenotypes related to Glycogen Storage Disease Iii:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.02 AGL ALDOB G6PC GAA HAS2 LARGE1
2 cardiovascular system MP:0005385 9.97 AIF1 ALDOB GAA HAS2 HCK LARGE1
3 growth/size/body region MP:0005378 9.96 ALDOB G6PC GAA HAS2 HCK LARGE1
4 homeostasis/metabolism MP:0005376 9.9 AGL AIF1 ALDOB G6PC GAA HAS2
5 mortality/aging MP:0010768 9.7 AGL ALDOB G6PC HAS2 HCK LARGE1
6 skeleton MP:0005390 9.32 AGL AIF1 ALDOB G6PC GAA HAS2

Drugs & Therapeutics for Glycogen Storage Disease Iii

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


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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Effect of Triheptanoin on Fatty Acid Oxidation and Exercise Tolerance in Patients With Glycogenoses Recruiting NCT03642860 Phase 2 Triheptanoin;Placebo Oil
2 Prospective Follow-up of Patients With Glycogen Storage Disease Type III Unknown status NCT01563705 Not Applicable
3 Energy Supplements to Improve Exercise Tolerance in Metabolic Myopathies Unknown status NCT02448667 Not Applicable
4 Sleep and Quality of Life in Patients With Glycogen Storage Disease on Standard Versus Modified Uncooked Cornstarch Completed NCT02054832
5 Acute Nutritional Ketosis in GSD IIIa Completed NCT03011203 Not Applicable
6 Study of Glycogen Storage Disease Expression in Carriers Completed NCT02057731
7 Biomarker for Glycogen Storage Diseases Recruiting NCT02385162
8 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Recruiting NCT02635269 Not Applicable

Search NIH Clinical Center for Glycogen Storage Disease Iii

Cochrane evidence based reviews: glycogen storage disease type iii

Genetic Tests for Glycogen Storage Disease Iii

Genetic tests related to Glycogen Storage Disease Iii:

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

Anatomical Context for Glycogen Storage Disease Iii

MalaCards organs/tissues related to Glycogen Storage Disease Iii:

41
Liver, Eye, Skeletal Muscle, Bone, Heart, Endothelial

Publications for Glycogen Storage Disease Iii

Articles related to Glycogen Storage Disease Iii:

(show top 50) (show all 103)
# Title Authors Year
1
Aberrant apolipoprotein C-III glycosylation in glycogen storage disease type III and IX. ( 29408683 )
2018
2
Glucose-free/high-protein diet improves hepatomegaly and exercise intolerance in glycogen storage disease type III mice. ( 30076962 )
2018
3
A lower energetic, protein and uncooked cornstarch intake is associated with a more severe outcome in glycogen storage disease type III: an observational study of 50 patients. ( 30110253 )
2018
4
Neuromuscular Involvement in Glycogen Storage Disease Type III in Fifty Tunisian Patients: Phenotype and Natural History in Young Patients. ( 30308687 )
2018
5
Cross-sectional retrospective study of muscle function in patients with glycogen storage disease type III. ( 27460348 )
2016
6
Reduced bone mineral density in glycogen storage disease type III: evidence for a possible connection between metabolic imbalance and bone homeostasis. ( 26924264 )
2016
7
Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome. ( 27106217 )
2016
8
Spectrum of AGL mutations in Chinese patients with glycogen storage disease type III: identification of 31 novel mutations. ( 26984562 )
2016
9
Peripheral neuropathy in glycogen storage disease type III: Fact or myth? ( 26575860 )
2015
10
Pathological characteristics of glycogen storage disease III in skeletal muscle. ( 26067541 )
2015
11
Skeletal and cardiac muscle involvement in children with glycogen storage disease type III. ( 25948107 )
2015
12
Skeletal muscle metabolism is impaired during exercise in glycogen storage disease type III. ( 25832663 )
2015
13
Glycogen storage disease type III: The phenotype branches out. ( 25832667 )
2015
14
Molecular and clinical delineation of 12 patients with glycogen storage disease type III in Western Turkey. ( 25451950 )
2015
15
The effect of tailoring of cornstarch intake on stature in children with glycogen storage disease type III. ( 25153581 )
2014
16
Cognitive profile of patients with glycogen storage disease type III: a clinical description of seven cases. ( 25388549 )
2014
17
Glycogen storage disease type III: modified Atkins diet improves myopathy. ( 25431232 )
2014
18
Glycogen storage disease type III in Israel: presentation and long-term outcome. ( 24716397 )
2014
19
Glycogen storage disease type III: A novel Agl knockout mouse model. ( 25092169 )
2014
20
Dietary management in glycogen storage disease type III: what is the evidence? ( 25164784 )
2014
21
Glycogen storage disease type III in Egyptian children: a single centre clinico-laboratory study. ( 25097048 )
2014
22
Improvement of Cardiomyopathy After High-Fat Diet in Two Siblings with Glycogen Storage Disease Type III. ( 25308556 )
2014
23
Correction of glycogen storage disease type III with rapamycin in a canine model. ( 24509886 )
2014
24
Mouse model of glycogen storage disease type III. ( 24613482 )
2014
25
Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for glycogen storage disease type III. ( 23318145 )
2013
26
Mutation Analysis in Glycogen Storage Disease Type III Patients in the Netherlands: Novel Genotype-Phenotype Relationships and Five Novel Mutations in the AGL Gene. ( 23430490 )
2013
27
Exercise intolerance in Glycogen Storage Disease Type III: weakness or energy deficiency? ( 23507172 )
2013
28
A mutation analysis of the AGL gene in Korean patients with glycogen storage disease type III. ( 24257475 )
2013
29
Molecular and biochemical characterization of a novel intronic single point mutation in a Tunisian family with glycogen storage disease type III. ( 23649758 )
2013
30
Delayed diagnosis of glycogen storage disease type III. ( 21691223 )
2012
31
A c.3216_3217delGA mutation in AGL gene in Tunisian patients with a glycogen storage disease type III: evidence of a founder effect. ( 22035446 )
2012
32
High frequency of W1327X mutation in glycogen storage disease type III patients from central Tunisia. ( 23207808 )
2012
33
Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III. ( 22089644 )
2012
34
Cardiac Pathology in Glycogen Storage Disease Type III. ( 23430941 )
2012
35
Markedly elevated serum transaminases in glycogen storage disease type III. ( 21464753 )
2011
36
Phenotypical variability in glycogen storage disease type III with a recurrent AGL mutation c.750-753delAGAC. ( 21321962 )
2011
37
Successful treatment of severe cardiomyopathy in glycogen storage disease type III With D,L-3-hydroxybutyrate, ketogenic and high-protein diet. ( 21857385 )
2011
38
The electrodiagnostic characteristics of Glycogen Storage Disease Type III. ( 20071996 )
2010
39
Glycogen storage disease type III with hypoketosis. ( 21073127 )
2010
40
Echocardiographic manifestations of Glycogen Storage Disease III: increase in wall thickness and left ventricular mass over time. ( 20526204 )
2010
41
Molecular analysis of the AGL gene: identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III. ( 20648714 )
2010
42
Glycogen storage disease type III diagnosis and management guidelines. ( 20631546 )
2010
43
Glycogen storage disease type III in the Irish population. ( 20490926 )
2010
44
Premature coronary artery disease in a patient with glycogen storage disease III. ( 20679683 )
2010
45
Diabetes mellitus associated with glycogen storage disease type III. ( 19334047 )
2009
46
[Clinical and pathological features of glycogen storage disease type III]. ( 19595259 )
2009
47
Molecular features of 23 patients with glycogen storage disease type III in Turkey: a novel mutation p.R1147G associated with isolated glucosidase deficiency, along with 9 AGL mutations. ( 19834502 )
2009
48
Distinct mutations in the glycogen debranching enzyme found in glycogen storage disease type III lead to impairment in diverse cellular functions. ( 19299494 )
2009
49
Egyptian glycogen storage disease type III - identification of six novel AGL mutations, including a large 1.5 kb deletion and a missense mutation p.L620P with subtype IIId. ( 19754354 )
2009
50
[Molecular genetic analysis of 10 Chinese patients with glycogen storage disease type III]. ( 19951465 )
2009

Variations for Glycogen Storage Disease Iii

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

75
# Symbol AA change Variation ID SNP ID
1 AGL p.Gly1448Arg VAR_009231 rs118203964

ClinVar genetic disease variations for Glycogen Storage Disease Iii:

6 (show top 50) (show all 826)
# 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.4529dupA (p.Tyr1510Terfs) duplication Pathogenic/Likely pathogenic rs387906244 GRCh38 Chromosome 1, 99921581: 99921581
3 AGL NM_000642.2(AGL): c.16C> T (p.Gln6Ter) single nucleotide variant Pathogenic/Likely pathogenic rs113994126 GRCh37 Chromosome 1, 100316614: 100316614
4 AGL NM_000642.2(AGL): c.16C> T (p.Gln6Ter) single nucleotide variant Pathogenic/Likely pathogenic rs113994126 GRCh38 Chromosome 1, 99851058: 99851058
5 AGL NM_000642.2(AGL): c.2039G> A (p.Trp680Ter) single nucleotide variant Pathogenic rs113994129 GRCh37 Chromosome 1, 100346885: 100346885
6 AGL NM_000642.2(AGL): c.2039G> A (p.Trp680Ter) single nucleotide variant Pathogenic rs113994129 GRCh38 Chromosome 1, 99881329: 99881329
7 AGL NM_000642.2(AGL): c.4456delT (p.Ser1486Profs) deletion Pathogenic rs113994134 GRCh37 Chromosome 1, 100382262: 100382262
8 AGL NM_000642.2(AGL): c.4456delT (p.Ser1486Profs) deletion Pathogenic rs113994134 GRCh38 Chromosome 1, 99916706: 99916706
9 AGL NM_000642.2(AGL): c.4260-12A> G single nucleotide variant Pathogenic/Likely pathogenic rs369973784 GRCh37 Chromosome 1, 100381954: 100381954
10 AGL NM_000642.2(AGL): c.4260-12A> G single nucleotide variant Pathogenic/Likely pathogenic rs369973784 GRCh38 Chromosome 1, 99916398: 99916398
11 AGL NM_000642.2(AGL): c.1735+1G> T single nucleotide variant Likely pathogenic rs199922945 GRCh37 Chromosome 1, 100345603: 100345603
12 AGL NM_000642.2(AGL): c.1735+1G> T single nucleotide variant Likely pathogenic rs199922945 GRCh38 Chromosome 1, 99880047: 99880047
13 AGL AGL, EcoRI FRAGMENT INS undetermined variant Pathogenic
14 AGL NM_000642.2(AGL): c.4342G> C (p.Gly1448Arg) single nucleotide variant Pathogenic rs118203964 GRCh37 Chromosome 1, 100382048: 100382048
15 AGL NM_000642.2(AGL): c.4342G> C (p.Gly1448Arg) single nucleotide variant Pathogenic rs118203964 GRCh38 Chromosome 1, 99916492: 99916492
16 AGL NM_000642.2(AGL): c.3965delT (p.Val1322Alafs) deletion Pathogenic rs113994132 GRCh37 Chromosome 1, 100379098: 100379098
17 AGL NM_000642.2(AGL): c.3965delT (p.Val1322Alafs) deletion Pathogenic rs113994132 GRCh38 Chromosome 1, 99913542: 99913542
18 AGL NM_000642.2(AGL): c.1999delC (p.Gln667Argfs) deletion Pathogenic rs387906246 GRCh37 Chromosome 1, 100346731: 100346731
19 AGL NM_000642.2(AGL): c.1999delC (p.Gln667Argfs) deletion Pathogenic rs387906246 GRCh38 Chromosome 1, 99881175: 99881175
20 AGL NM_000642.2(AGL): c.4259+5G> A single nucleotide variant Pathogenic rs780504025 GRCh37 Chromosome 1, 100381047: 100381047
21 AGL NM_000642.2(AGL): c.4259+5G> A single nucleotide variant Pathogenic rs780504025 GRCh38 Chromosome 1, 99915491: 99915491
22 AGL NM_000642.2(AGL): c.1222C> T (p.Arg408Ter) single nucleotide variant Pathogenic rs113994128 GRCh37 Chromosome 1, 100340950: 100340950
23 AGL NM_000642.2(AGL): c.1222C> T (p.Arg408Ter) single nucleotide variant Pathogenic rs113994128 GRCh38 Chromosome 1, 99875394: 99875394
24 AGL NM_000642.2(AGL): c.3439A> G (p.Arg1147Gly) single nucleotide variant Pathogenic rs267606639 GRCh37 Chromosome 1, 100366268: 100366268
25 AGL NM_000642.2(AGL): c.3439A> G (p.Arg1147Gly) single nucleotide variant Pathogenic rs267606639 GRCh38 Chromosome 1, 99900712: 99900712
26 AGL NM_000642.2(AGL): c.3980G> A (p.Trp1327Ter) single nucleotide variant Pathogenic rs267606640 GRCh37 Chromosome 1, 100379113: 100379113
27 AGL NM_000642.2(AGL): c.3980G> A (p.Trp1327Ter) single nucleotide variant Pathogenic rs267606640 GRCh38 Chromosome 1, 99913557: 99913557
28 AGL NM_000642.2(AGL): c.2590C> T (p.Arg864Ter) single nucleotide variant Pathogenic rs113994130 GRCh37 Chromosome 1, 100350168: 100350168
29 AGL NM_000642.2(AGL): c.2590C> T (p.Arg864Ter) single nucleotide variant Pathogenic rs113994130 GRCh38 Chromosome 1, 99884612: 99884612
30 AGL NM_000642.2(AGL): c.3682C> T (p.Arg1228Ter) single nucleotide variant Pathogenic rs113994131 GRCh37 Chromosome 1, 100368332: 100368332
31 AGL NM_000642.2(AGL): c.3682C> T (p.Arg1228Ter) single nucleotide variant Pathogenic rs113994131 GRCh38 Chromosome 1, 99902776: 99902776
32 AGL NM_000642.2(AGL): c.94C> T (p.Gln32Ter) single nucleotide variant Likely pathogenic rs786204489 GRCh38 Chromosome 1, 99861514: 99861514
33 AGL NM_000642.2(AGL): c.94C> T (p.Gln32Ter) single nucleotide variant Likely pathogenic rs786204489 GRCh37 Chromosome 1, 100327070: 100327070
34 AGL NM_000642.2(AGL): c.100C> T (p.Arg34Ter) single nucleotide variant Likely pathogenic rs781580050 GRCh38 Chromosome 1, 99861520: 99861520
35 AGL NM_000642.2(AGL): c.100C> T (p.Arg34Ter) single nucleotide variant Likely pathogenic rs781580050 GRCh37 Chromosome 1, 100327076: 100327076
36 AGL NM_000642.2(AGL): c.118C> T (p.Gln40Ter) single nucleotide variant Pathogenic/Likely pathogenic rs771961377 GRCh38 Chromosome 1, 99861538: 99861538
37 AGL NM_000642.2(AGL): c.118C> T (p.Gln40Ter) single nucleotide variant Pathogenic/Likely pathogenic rs771961377 GRCh37 Chromosome 1, 100327094: 100327094
38 AGL NM_000642.2(AGL): c.664+3A> G single nucleotide variant Pathogenic/Likely pathogenic rs370792293 GRCh38 Chromosome 1, 99864592: 99864592
39 AGL NM_000642.2(AGL): c.664+3A> G single nucleotide variant Pathogenic/Likely pathogenic rs370792293 GRCh37 Chromosome 1, 100330148: 100330148
40 AGL NM_000642.2(AGL): c.1384delG (p.Val462Terfs) deletion Pathogenic/Likely pathogenic rs786204678 GRCh38 Chromosome 1, 99876558: 99876558
41 AGL NM_000642.2(AGL): c.1384delG (p.Val462Terfs) deletion Pathogenic/Likely pathogenic rs786204678 GRCh37 Chromosome 1, 100342114: 100342114
42 AGL NM_000642.2(AGL): c.1391dupG (p.Asp465Argfs) duplication Likely pathogenic rs786204616 GRCh37 Chromosome 1, 100342121: 100342121
43 AGL NM_000642.2(AGL): c.1391dupG (p.Asp465Argfs) duplication Likely pathogenic rs786204616 GRCh38 Chromosome 1, 99876565: 99876565
44 AGL NM_000642.2(AGL): c.2309-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs786204481 GRCh37 Chromosome 1, 100349675: 100349675
45 AGL NM_000642.2(AGL): c.2309-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs786204481 GRCh38 Chromosome 1, 99884119: 99884119
46 AGL NM_000642.2(AGL): c.3297G> A (p.Trp1099Ter) single nucleotide variant Likely pathogenic rs786204490 GRCh37 Chromosome 1, 100361879: 100361879
47 AGL NM_000642.2(AGL): c.3297G> A (p.Trp1099Ter) single nucleotide variant Likely pathogenic rs786204490 GRCh38 Chromosome 1, 99896323: 99896323
48 AGL NM_000642.2(AGL): c.3444C> G (p.Tyr1148Ter) single nucleotide variant Likely pathogenic rs776977863 GRCh37 Chromosome 1, 100366273: 100366273
49 AGL NM_000642.2(AGL): c.3444C> G (p.Tyr1148Ter) single nucleotide variant Likely pathogenic rs776977863 GRCh38 Chromosome 1, 99900717: 99900717
50 AGL NM_000642.2(AGL): c.4197delA (p.Ala1400Leufs) deletion Pathogenic/Likely pathogenic rs786204595 GRCh37 Chromosome 1, 100380980: 100380980

Expression for Glycogen Storage Disease Iii

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

Pathways for Glycogen Storage Disease Iii

Pathways related to Glycogen Storage Disease Iii according to KEGG:

37
# Name Kegg Source Accession
1 Starch and sucrose metabolism hsa00500

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.67 AGL ALDOB APOC3 G6PC GAA GCG
2
Show member pathways
12.01 AGL ALDOB G6PC GAA PC PYGL
3
Show member pathways
11.92 AGL ALDOB G6PC GAA HAS2 PC
4
Show member pathways
11.54 AGL G6PC GAA PYGL
5 11.51 G6PC GCG PYGL

GO Terms for Glycogen Storage Disease Iii

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

# 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 Iii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.55 AGL GAA LARGE1 PC PYGL
2 gluconeogenesis GO:0006094 9.43 ALDOB G6PC PC
3 muscle cell cellular homeostasis GO:0046716 9.37 GAA LARGE1
4 striated muscle contraction GO:0006941 9.32 GAA TNNI3
5 glycogen metabolic process GO:0005977 9.26 AGL G6PC GAA PYGL
6 glycogen catabolic process GO:0005980 8.92 AGL G6PC GAA PYGL

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

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.8 AGL HAS2 HCK LARGE1 PIK3C2A PYGL
2 identical protein binding GO:0042802 9.63 ALDOB CALCA GCG HAS2 PC SHMT2
3 transferase activity, transferring glycosyl groups GO:0016757 9.26 AGL HAS2 LARGE1 PYGL
4 catalytic activity GO:0003824 9.02 GAA LARGE1 PC PYGL SHMT2

Sources for Glycogen Storage Disease Iii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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