MCID: GLY003
MIFTS: 55

Glycogen Storage Disease Iii

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Liver diseases, Metabolic diseases, Nephrological diseases, Cardiovascular diseases, Blood diseases, Muscle diseases, Endocrine 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
Glycogen Storage Disease, Type Iiic 6
Glycogen Storage Disease, Type Iiib 6
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
Gd 3

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 gaucher disease, type iii. 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 Menthol and Hormones have been mentioned in the context of this disorder. Affiliated tissues include liver, eye and skeletal muscle, and related phenotypes are full cheeks 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 33)
# Related Disease Score Top Affiliating Genes
1 glycogen storage disease 28.0 AGL G6PC GAA GBE1 PYGL
2 gaucher disease, type iii 11.8
3 gaucher disease, type i 11.7
4 gaucher's disease 11.6
5 gaucher disease, type ii 11.6
6 gardner-diamond syndrome 11.6
7 gaucher disease, perinatal lethal 11.1
8 46,xx sex reversal 1 10.9
9 autoimmune thyroid disease 2 10.8
10 pseudo-gaucher disease 10.8
11 grover's disease 10.8
12 herpes simplex 10.3
13 hepatocellular carcinoma 10.1
14 glycogen storage disease v 10.0 GAA PYGL
15 endocrine pancreas disease 9.9 G6PC GCG
16 arteries, anomalies of 9.9
17 coronary artery anomaly 9.9
18 glucose metabolism disease 9.9 G6PC GCG
19 hepatitis 9.8
20 hyperinsulinism 9.8
21 polymicrogyria 9.8
22 neuromuscular disease 9.8
23 fructose-1,6-bisphosphatase deficiency 9.6 AGL G6PC GCG
24 hypoglycemia 9.6 AGL G6PC GCG
25 pancreatic cholera 9.6 CALCA GCG
26 atrial standstill 1 9.5 AGL GAA GBE1
27 glycogen storage disease ia 9.5 AGL G6PC GBE1
28 glycogen storage disease vi 9.5 G6PC GCG PYGL
29 hyperglycemia 9.4 G6PC GCG
30 endocrine gland cancer 9.3 CALCA GCG
31 trehalase deficiency 9.2 AGL GAA GBE1
32 carbohydrate metabolic disorder 9.1 AGL G6PC GAA GBE1
33 glycogen storage disease iv 8.5 AGL G6PC GAA GBE1 PYGL

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

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
Menthol Approved Not Applicable 2216-51-5 16666
2 Hormones Not Applicable
3 Pharmaceutical Solutions Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Prospective Follow-up of Patients With Glycogen Storage Disease Type III Unknown status NCT01563705 Not Applicable
2 Sleep and Quality of Life in Patients With Glycogen Storage Disease on Standard Versus Modified Uncooked Cornstarch Completed NCT02054832
3 Acute Nutritional Ketosis in GSD IIIa Completed NCT03011203 Not Applicable
4 Study of Glycogen Storage Disease Expression in Carriers Completed NCT02057731
5 Energy Supplements to Improve Exercise Tolerance in Metabolic Myopathies Recruiting NCT02448667 Not Applicable
6 Biomarker for Glycogen Storage Diseases Recruiting NCT02385162
7 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

Publications for Glycogen Storage Disease Iii

Articles related to Glycogen Storage Disease Iii:

(show top 50) (show all 74)
# Title Authors Year
1
Aberrant apolipoprotein C-III glycosylation in glycogen storage disease type III and IX. ( 29408683 )
2018
2
Cross-sectional retrospective study of muscle function in patients with glycogen storage disease type III. ( 27460348 )
2016
3
Reduced bone mineral density in glycogen storage disease type III: evidence for a possible connection between metabolic imbalance and bone homeostasis. ( 26924264 )
2016
4
Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome. ( 27106217 )
2016
5
Spectrum of AGL mutations in Chinese patients with glycogen storage disease type III: identification of 31 novel mutations. ( 26984562 )
2016
6
Peripheral neuropathy in glycogen storage disease type III: Fact or myth? ( 26575860 )
2015
7
Pathological characteristics of glycogen storage disease III in skeletal muscle. ( 26067541 )
2015
8
Skeletal and cardiac muscle involvement in children with glycogen storage disease type III. ( 25948107 )
2015
9
Skeletal muscle metabolism is impaired during exercise in glycogen storage disease type III. ( 25832663 )
2015
10
Glycogen storage disease type III: The phenotype branches out. ( 25832667 )
2015
11
Molecular and clinical delineation of 12 patients with glycogen storage disease type III in Western Turkey. ( 25451950 )
2015
12
The effect of tailoring of cornstarch intake on stature in children with glycogen storage disease type III. ( 25153581 )
2014
13
Cognitive profile of patients with glycogen storage disease type III: a clinical description of seven cases. ( 25388549 )
2014
14
Glycogen storage disease type III: modified Atkins diet improves myopathy. ( 25431232 )
2014
15
Glycogen storage disease type III in Israel: presentation and long-term outcome. ( 24716397 )
2014
16
Glycogen storage disease type III: A novel Agl knockout mouse model. ( 25092169 )
2014
17
Dietary management in glycogen storage disease type III: what is the evidence? ( 25164784 )
2014
18
Glycogen storage disease type III in Egyptian children: a single centre clinico-laboratory study. ( 25097048 )
2014
19
Improvement of Cardiomyopathy After High-Fat Diet in Two Siblings with Glycogen Storage Disease Type III. ( 25308556 )
2014
20
Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for glycogen storage disease type III. ( 23318145 )
2013
21
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
22
Exercise intolerance in Glycogen Storage Disease Type III: weakness or energy deficiency? ( 23507172 )
2013
23
A mutation analysis of the AGL gene in Korean patients with glycogen storage disease type III. ( 24257475 )
2013
24
Molecular and biochemical characterization of a novel intronic single point mutation in a Tunisian family with glycogen storage disease type III. ( 23649758 )
2013
25
Delayed diagnosis of glycogen storage disease type III. ( 21691223 )
2012
26
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
27
High frequency of W1327X mutation in glycogen storage disease type III patients from central Tunisia. ( 23207808 )
2012
28
Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III. ( 22089644 )
2012
29
Cardiac Pathology in Glycogen Storage Disease Type III. ( 23430941 )
2012
30
Markedly elevated serum transaminases in glycogen storage disease type III. ( 21464753 )
2011
31
Successful treatment of severe cardiomyopathy in glycogen storage disease type III With D,L-3-hydroxybutyrate, ketogenic and high-protein diet. ( 21857385 )
2011
32
Phenotypical variability in glycogen storage disease type III with a recurrent AGL mutation c.750-753delAGAC. ( 21321962 )
2011
33
The electrodiagnostic characteristics of Glycogen Storage Disease Type III. ( 20071996 )
2010
34
Glycogen storage disease type III with hypoketosis. ( 21073127 )
2010
35
Echocardiographic manifestations of Glycogen Storage Disease III: increase in wall thickness and left ventricular mass over time. ( 20526204 )
2010
36
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
37
Glycogen storage disease type III diagnosis and management guidelines. ( 20631546 )
2010
38
Glycogen storage disease type III in the Irish population. ( 20490926 )
2010
39
Premature coronary artery disease in a patient with glycogen storage disease III. ( 20679683 )
2010
40
Diabetes mellitus associated with glycogen storage disease type III. ( 19334047 )
2009
41
[Clinical and pathological features of glycogen storage disease type III]. ( 19595259 )
2009
42
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
43
Distinct mutations in the glycogen debranching enzyme found in glycogen storage disease type III lead to impairment in diverse cellular functions. ( 19299494 )
2009
44
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
45
[Molecular genetic analysis of 10 Chinese patients with glycogen storage disease type III]. ( 19951465 )
2009
46
Glycogen storage disease type III presenting with secondary diabetes and managed with insulin: a case report. ( 19829878 )
2009
47
Hyperlipidemia in glycogen storage disease type III: effect of age and metabolic control. ( 18709545 )
2008
48
Biochemical and molecular investigation of two Korean patients with glycogen storage disease type III. ( 18785866 )
2008
49
Does increased fatty acid oxidation enhance development of liver cirrhosis and progression to hepatocellular carcinoma in patients with glycogen storage disease type-III? ( 17570555 )
2007
50
Glycogen storage disease type III-hepatocellular carcinoma a long-term complication? ( 17196294 )
2007

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 596)
# Gene Variation Type Significance SNP ID Assembly Location
1 AGL NM_000642.2(AGL): c.3439A> G (p.Arg1147Gly) single nucleotide variant Pathogenic rs267606639 GRCh38 Chromosome 1, 99900712: 99900712
2 AGL NM_000642.2(AGL): c.3980G> A (p.Trp1327Ter) single nucleotide variant Pathogenic rs267606640 GRCh37 Chromosome 1, 100379113: 100379113
3 AGL NM_000642.2(AGL): c.4529dupA (p.Tyr1510Terfs) duplication Pathogenic/Likely pathogenic rs387906244 GRCh37 Chromosome 1, 100387137: 100387137
4 AGL NM_000642.2(AGL): c.4529dupA (p.Tyr1510Terfs) duplication Pathogenic/Likely pathogenic rs387906244 GRCh38 Chromosome 1, 99921581: 99921581
5 AGL NM_000642.2(AGL): c.16C> T (p.Gln6Ter) single nucleotide variant Pathogenic/Likely pathogenic rs113994126 GRCh37 Chromosome 1, 100316614: 100316614
6 AGL NM_000642.2(AGL): c.16C> T (p.Gln6Ter) single nucleotide variant Pathogenic/Likely pathogenic rs113994126 GRCh38 Chromosome 1, 99851058: 99851058
7 AGL NM_000642.2(AGL): c.2039G> A (p.Trp680Ter) single nucleotide variant Pathogenic rs113994129 GRCh37 Chromosome 1, 100346885: 100346885
8 AGL NM_000642.2(AGL): c.2039G> A (p.Trp680Ter) single nucleotide variant Pathogenic rs113994129 GRCh38 Chromosome 1, 99881329: 99881329
9 AGL NM_000642.2(AGL): c.4456delT (p.Ser1486Profs) deletion Pathogenic rs113994134 GRCh37 Chromosome 1, 100382262: 100382262
10 AGL NM_000642.2(AGL): c.4456delT (p.Ser1486Profs) deletion Pathogenic rs113994134 GRCh38 Chromosome 1, 99916706: 99916706
11 AGL NM_000642.2(AGL): c.4260-12A> G single nucleotide variant Pathogenic/Likely pathogenic rs369973784 GRCh37 Chromosome 1, 100381954: 100381954
12 AGL NM_000642.2(AGL): c.4260-12A> G single nucleotide variant Pathogenic/Likely pathogenic rs369973784 GRCh38 Chromosome 1, 99916398: 99916398
13 AGL NM_000642.2(AGL): c.1735+1G> T single nucleotide variant Likely pathogenic rs199922945 GRCh37 Chromosome 1, 100345603: 100345603
14 AGL NM_000642.2(AGL): c.1735+1G> T single nucleotide variant Likely pathogenic rs199922945 GRCh38 Chromosome 1, 99880047: 99880047
15 AGL AGL, EcoRI FRAGMENT INS undetermined variant Pathogenic
16 AGL NM_000642.2(AGL): c.4342G> C (p.Gly1448Arg) single nucleotide variant Pathogenic rs118203964 GRCh37 Chromosome 1, 100382048: 100382048
17 AGL NM_000642.2(AGL): c.4342G> C (p.Gly1448Arg) single nucleotide variant Pathogenic rs118203964 GRCh38 Chromosome 1, 99916492: 99916492
18 AGL NM_000642.2(AGL): c.3965delT (p.Val1322Alafs) deletion Pathogenic rs113994132 GRCh37 Chromosome 1, 100379098: 100379098
19 AGL NM_000642.2(AGL): c.3965delT (p.Val1322Alafs) deletion Pathogenic rs113994132 GRCh38 Chromosome 1, 99913542: 99913542
20 AGL NM_000642.2(AGL): c.1999delC (p.Gln667Argfs) deletion Pathogenic rs387906246 GRCh37 Chromosome 1, 100346731: 100346731
21 AGL NM_000642.2(AGL): c.1999delC (p.Gln667Argfs) deletion Pathogenic rs387906246 GRCh38 Chromosome 1, 99881175: 99881175
22 AGL NM_000642.2(AGL): c.4259+5G> A single nucleotide variant Pathogenic rs780504025 GRCh37 Chromosome 1, 100381047: 100381047
23 AGL NM_000642.2(AGL): c.4259+5G> A single nucleotide variant Pathogenic rs780504025 GRCh38 Chromosome 1, 99915491: 99915491
24 AGL NM_000642.2(AGL): c.1222C> T (p.Arg408Ter) single nucleotide variant Pathogenic rs113994128 GRCh37 Chromosome 1, 100340950: 100340950
25 AGL NM_000642.2(AGL): c.1222C> T (p.Arg408Ter) single nucleotide variant Pathogenic rs113994128 GRCh38 Chromosome 1, 99875394: 99875394
26 AGL NM_000642.2(AGL): c.3439A> G (p.Arg1147Gly) single nucleotide variant Pathogenic rs267606639 GRCh37 Chromosome 1, 100366268: 100366268
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 Likely pathogenic rs786204678 GRCh38 Chromosome 1, 99876558: 99876558
41 AGL NM_000642.2(AGL): c.1384delG (p.Val462Terfs) deletion 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 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
13.48 AGL G6PC GAA GBE1 GCG PYGL
2
Show member pathways
12.41 AGL G6PC GAA GBE1 PYGL
3
Show member pathways
11.93 AGL G6PC GAA GBE1 PYGL
4 11.51 G6PC GCG PYGL
5
Show member pathways
11.44 G6PC PYGL
6
Show member pathways
11.1 AGL G6PC GAA GBE1 PYGL
7 10.89 AGL GBE1 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 ficolin-1-rich granule lumen GO:1904813 8.96 AGL PYGL
2 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 9.61 AGL GAA PYGL
2 neutrophil degranulation GO:0043312 9.58 AGL GAA PYGL
3 glucose homeostasis GO:0042593 9.46 G6PC PYGL
4 carbohydrate metabolic process GO:0005975 9.43 GAA GBE1 PYGL
5 adenylate cyclase-activating G-protein coupled receptor signaling pathway GO:0007189 9.37 CALCA GCG
6 feeding behavior GO:0007631 9.32 CALCA GCG
7 glycogen catabolic process GO:0005980 9.26 AGL G6PC GAA PYGL
8 glycogen biosynthetic process GO:0005978 9.16 AGL GBE1
9 glycogen metabolic process GO:0005977 9.02 AGL G6PC GAA GBE1 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, transferring glycosyl groups GO:0016757 9.33 AGL GBE1 PYGL
2 hormone activity GO:0005179 9.32 CALCA GCG
3 hydrolase activity, acting on glycosyl bonds GO:0016798 9.26 AGL GAA
4 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 8.96 GAA GBE1
5 carbohydrate binding GO:0030246 8.92 AGL GAA GBE1 PYGL

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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