GSD3
MCID: GLY003
MIFTS: 60

Glycogen Storage Disease Iii (GSD3)

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

Aliases & Classifications for Glycogen Storage Disease Iii

MalaCards integrated aliases for Glycogen Storage Disease Iii:

Name: Glycogen Storage Disease Iii 57 12 72 15
Glycogen Storage Disease Type Iii 25 43 58 36 29 54 6 44 70
Forbes Disease 57 73 25 20 43 58 72
Glycogen Storage Disease Iiia 57 72 29 13 6 70
Cori Disease 57 25 20 43 58 72
Amylo-1,6-Glucosidase Deficiency 57 20 58 72 70
Glycogen Storage Disease Iiib 57 72 29 6 70
Limit Dextrinosis 57 20 43 58
Glycogen Debrancher Deficiency 57 20 43
Glycogen Storage Disease Iiic 72 6 70
Agl Deficiency 57 43 72
Gde Deficiency 57 58 72
Gsd3 57 43 72
Glycogen Storage Disease Type 3 20 58
Glycogen Storage Disease Iiid 72 70
Debrancher Deficiency 25 43
Gsd Iii 25 43
Glycogen Storage Disease Due to Glycogen Debranching Enzyme Deficiency 58
Glycogenosis Due to Glycogen Debranching Enzyme Deficiency 58
Gsd Due to Glycogen Debranching Enzyme Deficiency 58
Glycogen Debranching Enzyme Deficiency 72
Storage Disease, Glycogen, Type Iii 39
Glycogen Storage Disease, Type Iii 12
Amylo 1,6 Glucosidase Deficiency 12
Deficiency of Debranching Enzyme 12
Glycogen Storage Disease 3 72
Deficiency of Dextrin 12
Glycogenosis Type Iii 58
Cori-Forbes Disease 58
Glycogenosis Type 3 58
Cori's Disease 43
Gsd Type 3 58
Gsd Iiia 72
Gsd Iiib 72
Gsd Iiic 72
Gsd Iiid 72
Gsd-Iii 72
Gsdiii 58

Characteristics:

Orphanet epidemiological data:

58
glycogen storage disease due to glycogen debranching enzyme deficiency
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: any age;

OMIM®:

57 (Updated 05-Apr-2021)
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:

31
glycogen storage disease iii:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare hepatic diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:2748
OMIM® 57 232400
KEGG 36 H01941
MeSH 44 D006010
NCIt 50 C84736
SNOMED-CT 67 66937008
ICD10 32 E74.03
ICD10 via Orphanet 33 E74.0
UMLS via Orphanet 71 C0017922 C2936915
Orphanet 58 ORPHA366
UMLS 70 C0017922 C1968739 C1968740 more

Summaries for Glycogen Storage Disease Iii

MedlinePlus Genetics : 43 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.GSDIII is divided into types IIIa, IIIb, IIIc, and IIId, which are distinguished by their pattern of signs and symptoms. GSD types IIIa and IIIc mainly affect the liver and muscles, and GSD types IIIb and IIId typically affect only the liver. It is very difficult to distinguish between the types of GSDIII that affect the same tissues. GSD types IIIa and IIIb are the most common forms of this condition.Beginning in infancy, individuals with any type of GSDIII may have low blood sugar (hypoglycemia), excess amounts of fats in the blood (hyperlipidemia), and elevated blood levels of liver enzymes. As they get older, children with this condition typically develop an enlarged liver (hepatomegaly). Liver size usually returns to normal during adolescence, but some affected individuals develop chronic liver disease (cirrhosis) and liver failure later in life. People with GSDIII often have slow growth because of their liver problems, which can lead to short stature. In a small percentage of people with GSDIII, noncancerous (benign) tumors called adenomas may form in the liver.Individuals with GSDIIIa may develop muscle weakness (myopathy) later in life. These muscle problems can affect both heart (cardiac) muscle and the muscles that are used for movement (skeletal muscles). Muscle involvement varies greatly among affected individuals. The first signs and symptoms are typically poor muscle tone (hypotonia) and mild myopathy in early childhood. The myopathy may become severe by early to mid-adulthood. Some people with GSDIIIa have a weakened heart muscle (cardiomyopathy), but affected individuals usually do not experience heart failure. Other people affected with GSDIIIa have no cardiac muscle problems.

MalaCards based summary : Glycogen Storage Disease Iii, also known as glycogen storage disease type iii, is related to atrial standstill 1 and hypoglycemia. 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, heart and eye, and related phenotypes are short stature and intellectual disability, mild

GARD : 20 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.

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) (Updated 05-Apr-2021)

KEGG : 36 Glycogen storage disease type III (GSD-III), also known as Cori disease or Forbes disease, is an autosomal recessive disorder of glycogen metabolism caused by deficient activity of glycogen debranching enzyme AGL. Most GSD-III patients have AGL deficiency in both the liver and muscle (type IIIa), but some have it in the liver but not muscle (type IIIb).

UniProtKB/Swiss-Prot : 72 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 : 73 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 top 50) (show all 95)
# Related Disease Score Top Affiliating Genes
1 atrial standstill 1 30.4 GBE1 GAA AGL
2 hypoglycemia 30.3 SLC37A4 GYS1 G6PC1 AGL
3 inherited metabolic disorder 30.2 SI MGAM G6PC1
4 familial hyperlipidemia 30.1 SLC37A4 PIK3C2A G6PC1
5 glycogen storage disease ii 29.7 STBD1 SI MGAM GYS1 GAA
6 myoclonic epilepsy of lafora 29.6 STBD1 GYS1 GBE1 AGL
7 glycogen storage disease 29.5 SLC37A4 MGAM GYS1 GBE1 GAA G6PC1
8 autosomal recessive disease 10.8
9 fasting hypoglycemia 10.6
10 hypertrophic cardiomyopathy 10.5
11 liver cirrhosis 10.5
12 splenomegaly 10.3
13 cardiac conduction defect 10.3
14 peripheral nervous system disease 10.3
15 muscular atrophy 10.3
16 neuropathy 10.3
17 hypotonia 10.3
18 congenital muscular dystrophy-dystroglycanopathy type a11 10.2 MGAT4C ALG1L
19 glycogen storage disease type 0 10.2 GYS1 AGL
20 liver benign neoplasm 10.2 SLC37A4 G6PC1
21 pneumatosis cystoides intestinalis 10.2 SI MGAM
22 barre-lieou syndrome 10.2 SI MGAM
23 hirata disease 10.2 SI MGAM
24 miliaria 10.2 SI MGAM
25 postgastrectomy syndrome 10.2 SI MGAM
26 glycogen storage disease due to glucose-6-phosphatase deficiency 10.2 SLC37A4 GAA G6PC1
27 acute laryngopharyngitis 10.1 SI MGAM
28 trigonitis 10.1 SI MGAM
29 chicken egg allergy 10.1 SI MGAM
30 functional gastric disease 10.1 SI MGAM
31 sucrase-isomaltase deficiency, congenital 10.1 SI MGAM
32 acyl-coa dehydrogenase, medium-chain, deficiency of 10.1
33 non-alcoholic fatty liver disease 10.1
34 medium-chain acyl-coenzyme a dehydrogenase deficiency 10.1
35 parkinson disease 17 10.1 SI MGAM
36 pfeiffer syndrome 10.1
37 fibrosis of extraocular muscles, congenital, 1 10.1
38 hypertriglyceridemia, familial 10.1
39 osteoporosis 10.1
40 otitis media 10.1
41 costello syndrome 10.1
42 phenylketonuria 10.1
43 taurodontism 10.1
44 bone mineral density quantitative trait locus 8 10.1
45 bone mineral density quantitative trait locus 15 10.1
46 metabolic acidosis 10.1
47 hepatocellular adenoma 10.1
48 glucose intolerance 10.1
49 portal hypertension 10.1
50 heart septal defect 10.1

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

Human phenotypes related to Glycogen Storage Disease Iii:

58 31 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
2 intellectual disability, mild 58 31 hallmark (90%) Very frequent (99-80%) HP:0001256
3 full cheeks 58 31 hallmark (90%) Very frequent (99-80%) HP:0000293
4 hypoglycemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001943
5 hypertriglyceridemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002155
6 immunodeficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0002721
7 myopathy 58 31 frequent (33%) Frequent (79-30%) HP:0003198
8 muscle weakness 31 HP:0001324
9 hepatomegaly 31 HP:0002240
10 depressed nasal bridge 31 HP:0005280
11 elevated hepatic transaminase 31 HP:0002910
12 hepatic fibrosis 31 HP:0001395
13 elevated serum creatine kinase 31 HP:0003236
14 hyperlipidemia 31 HP:0003077
15 thin upper lip vermilion 31 HP:0000219
16 deeply set eye 31 HP:0000490
17 malar flattening 31 HP:0000272
18 thin vermilion border 31 HP:0000233
19 midface retrusion 31 HP:0011800
20 cardiomyopathy 31 HP:0001638
21 broad nasal tip 31 HP:0000455
22 distal amyotrophy 31 HP:0003693
23 ventricular hypertrophy 31 HP:0001714

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Abdomen Liver:
hepatomegaly
hepatic fibrosis

Growth Height:
short stature

Metabolic Features:
hypoglycemia

Head And Neck Mouth:
thin vermilion border
bow-shaped lips

Growth Other:
growth retardation

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
Cardiovascular Heart:
cardiomyopathy
ventricular hypertrophy on ecg

Head And Neck Face:
midface hypoplasia

Clinical features from OMIM®:

232400 (Updated 05-Apr-2021)

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
2 Pharmaceutical Solutions

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Triheptanoin's Effect on Fatty Acid Oxidation and Exercise Tolerance in Patients With Debrancher Deficiency, Glycogenin-1 Deficiency and Phosphofructoinase Deficiency at Rest and During Exercise. A Randomized, Double-blind, Placebo-controlled, Cross-over Study Unknown status NCT03642860 Phase 2 Triheptanoin;Placebo Oil
2 Energy Supplements to Improve Exercise Tolerance in Metabolic Myopathies Unknown status NCT02448667
3 Prospective Follow-up of Patients With Glycogen Storage Disease Type III Unknown status NCT01563705
4 A Comparison of Quality of Sleep and Quality of Life in Patients With Glycogen Storage Disease on Standard and Modified Uncooked Cornstarch Completed NCT02054832
5 Acute Nutritional Ketosis and Exercise in Glycogen Storage Disease Type IIIa Completed NCT03011203
6 Clinical Survey Study to Evaluate Biomarkers and Clinical Manifestations in Individuals With Glycogen Storage Disease Type III (GSD III) Recruiting NCT04574830
7 Biomarker for Glycogen Storage Diseases - AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Active, not recruiting NCT02385162
8 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Active, not recruiting NCT02635269

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:

40
Liver, Heart, Eye, Bone, Skeletal Muscle, Endothelial

Publications for Glycogen Storage Disease Iii

Articles related to Glycogen Storage Disease Iii:

(show top 50) (show all 215)
# Title Authors PMID Year
1
Molecular analysis of the AGL gene: heterogeneity of mutations in patients with glycogen storage disease type III from Germany, Canada, Afghanistan, Iran, and Turkey. 61 6 25 57 54
17047887 2006
2
Genotype-phenotype correlation in two frequent mutations and mutation update in type III glycogen storage disease. 54 57 61 6 25
10655153 2000
3
A single-base deletion in the 3'-coding region of glycogen-debranching enzyme is prevalent in glycogen storage disease type IIIA in a population of North African Jewish patients. 6 57 25 54 61
9412782 1997
4
Clinical, biochemical and genetic features of glycogen debranching enzyme deficiency. 54 6 57 25
17915576 2007
5
Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle. 6 25 61 57
8755644 1996
6
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. 61 54 57 6
19834502 2009
7
Clinical and genetic variability of glycogen storage disease type IIIa: seven novel AGL gene mutations in the Mediterranean area. 57 6 54 61
11977176 2002
8
Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands. 57 6 25
11378828 2001
9
A nonsense mutation due to a single base insertion in the 3'-coding region of glycogen debranching enzyme gene associated with a severe phenotype in a patient with glycogen storage disease type IIIa. 61 54 57 6
8990006 1997
10
Isolation and nucleotide sequence of human liver glycogen debranching enzyme mRNA: identification of multiple tissue-specific isoforms. 61 6 25 54
9332391 1997
11
Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome. 25 6 61
27106217 2016
12
Spectrum of AGL mutations in Chinese patients with glycogen storage disease type III: identification of 31 novel mutations. 6 25 61
26984562 2016
13
A founder AGL mutation causing glycogen storage disease type IIIa in Inuit identified through whole-exome sequencing: a case series. 61 6 25
25602008 2015
14
Molecular analysis of the AGL gene: identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III. 25 61 6
20648714 2010
15
The electrodiagnostic characteristics of Glycogen Storage Disease Type III. 25 61 6
20071996 2010
16
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. 6 61 25
19754354 2009
17
Clinicopathological analysis of the homozygous p.W1327X AGL mutation in glycogen storage disease type 3. 6 57
18924225 2008
18
Heterogeneous mutations in the glycogen-debranching enzyme gene are responsible for glycogen storage disease type IIIa in Japan. 6 57
10982190 2000
19
Novel donor splice site mutations of AGL gene in glycogen storage disease type IIIa. 57 6
10472540 1999
20
[Diagnosis of glycogen storage disease type IIIA by detecting glycogen debranching enzyme activity, glycogen content and structure in muscle]. 61 6 54
19951495 2009
21
[Molecular genetic analysis of 10 Chinese patients with glycogen storage disease type III]. 61 54 6
19951465 2009
22
Distinct mutations in the glycogen debranching enzyme found in glycogen storage disease type III lead to impairment in diverse cellular functions. 54 6 61
19299494 2009
23
An adult case of glycogen storage disease type IIIa. 61 54 6
18617770 2008
24
Biochemical and molecular investigation of two Korean patients with glycogen storage disease type III. 6 61 54
18785866 2008
25
DNA-based subtyping of glycogen storage disease type III: mutation and haplotype analysis of the AGL gene in Chinese. 54 6 61
15542399 2004
26
Mutational analysis of the AGL gene: five novel mutations in GSD III patients. 61 54 6
12955720 2003
27
Molecular characterisation of GSD III subjects and identification of six novel mutations in AGL. 6 61 54
12442284 2002
28
Molecular characterization of glycogen storage disease type III. 61 6 54
11949933 2002
29
Mutational and haplotype analysis of AGL in patients with glycogen storage disease type III. 6 61 54
11924557 2002
30
Compound heterozygous patient with glycogen storage disease type III: identification of two novel AGL mutations, a donor splice site mutation of Chinese origin and a 1-bp deletion of Japanese origin. 6 61 54
10925384 2000
31
Two new mutations in the 3' coding region of the glycogen debranching enzyme in a glycogen storage disease type IIIa Ashkenazi Jewish patient. 6 61 54
9584265 1998
32
A novel point mutation in an acceptor splice site of intron 32 (IVS32 A-12-->G) but no exon 3 mutations in the glycogen debranching enzyme gene in a homozygous patient with glycogen storage disease type IIIb. 6 61 54
9490286 1998
33
Polymorphic markers of the glycogen debranching enzyme gene allowing linkage analysis in families with glycogen storage disease type III. 54 61 57
9032647 1997
34
A novel donor splice site mutation in the glycogen debranching enzyme gene is associated with glycogen storage disease type III. 61 54 6
8702417 1996
35
Glycogen debranching enzyme deficiency: long-term study of serum enzyme activities and clinical features. 54 57 61
1293383 1992
36
Immunoblot analyses of glycogen debranching enzyme in different subtypes of glycogen storage disease type III. 57 54 61
2295969 1990
37
Reversal of debrancher deficiency myopathy by the use of high-protein nutrition. 57 25
7049057 1982
38
Uniparental isodisomy of chromosome 1 results in glycogen storage disease type III with profound growth retardation. 61 6
30916492 2019
39
Genetic analysis and clinical assessment of four patients with Glycogen Storage Disease Type IIIa in China. 6 61
29614965 2018
40
Long term longitudinal study of muscle function in patients with glycogen storage disease type IIIa. 6 61
28888851 2017
41
Cross-sectional retrospective study of muscle function in patients with glycogen storage disease type III. 6 61
27460348 2016
42
Crystal structure of glycogen debranching enzyme and insights into its catalysis and disease-causing mutations. 61 6
27088557 2016
43
A Novel Nonsense Mutation of the AGL Gene in a Romanian Patient with Glycogen Storage Disease Type IIIa. 6 61
26885414 2016
44
Cognitive profile of patients with glycogen storage disease type III: a clinical description of seven cases. 61 6
25388549 2015
45
Molecular and clinical delineation of 12 patients with glycogen storage disease type III in Western Turkey. 61 6
25451950 2015
46
Glycogen storage disease type III: modified Atkins diet improves myopathy. 6 61
25431232 2014
47
A mutation analysis of the AGL gene in Korean patients with glycogen storage disease type III. 61 6
24257475 2014
48
[AGL gene analysis of a pedigree with glycogen storage disease type III and identification of a novel mutation]. 6 61
24495762 2013
49
Exercise intolerance in Glycogen Storage Disease Type III: weakness or energy deficiency? 6 61
23507172 2013
50
Mutation Analysis in Glycogen Storage Disease Type III Patients in the Netherlands: Novel Genotype-Phenotype Relationships and Five Novel Mutations in the AGL Gene. 6 61
23430490 2013

Variations for Glycogen Storage Disease Iii

ClinVar genetic disease variations for Glycogen Storage Disease Iii:

6 (show top 50) (show all 862)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 AGL NM_000642.3(AGL):c.2950-2A>G SNV Pathogenic 635290 rs770438130 GRCh37: 1:100357160-100357160
GRCh38: 1:99891604-99891604
2 AGL NM_000642.3(AGL):c.3837-1G>A SNV Pathogenic 635291 rs1570508240 GRCh37: 1:100377960-100377960
GRCh38: 1:99912404-99912404
3 AGL NM_000642.3(AGL):c.1083-2A>G SNV Pathogenic 635292 rs1570433472 GRCh37: 1:100340708-100340708
GRCh38: 1:99875152-99875152
4 AGL AGL, EcoRI FRAGMENT INS Variation Pathogenic 1101 GRCh37:
GRCh38:
5 AGL NM_000642.3(AGL):c.3439A>G (p.Arg1147Gly) SNV Pathogenic 1107 rs267606639 GRCh37: 1:100366268-100366268
GRCh38: 1:99900712-99900712
6 AGL NM_000642.3(AGL):c.4259+5G>A SNV Pathogenic 1105 rs780504025 GRCh37: 1:100381047-100381047
GRCh38: 1:99915491-99915491
7 AGL NM_000642.3(AGL):c.4342G>C (p.Gly1448Arg) SNV Pathogenic 1102 rs118203964 GRCh37: 1:100382048-100382048
GRCh38: 1:99916492-99916492
8 AGL NM_000642.3(AGL):c.1283G>A (p.Arg428Lys) SNV Pathogenic 242588 rs794729209 GRCh37: 1:100341011-100341011
GRCh38: 1:99875455-99875455
9 AGL NM_000642.3(AGL):c.3836+1G>A SNV Pathogenic 374346 rs780883601 GRCh37: 1:100376404-100376404
GRCh38: 1:99910848-99910848
10 AGL NC_000001.10:g.(?_100366308)_(100367832_?)del Deletion Pathogenic 456446 GRCh37: 1:100366308-100367832
GRCh38:
11 AGL NM_000642.3(AGL):c.3202_3203TA[1] (p.Tyr1068_Arg1069delinsTer) Microsatellite Pathogenic 456486 rs1553188832 GRCh37: 1:100358106-100358107
GRCh38: 1:99892550-99892551
12 AGL NM_000642.3(AGL):c.1102del (p.Glu368fs) Deletion Pathogenic 456447 rs1553185403 GRCh37: 1:100340729-100340729
GRCh38: 1:99875173-99875173
13 AGL NM_000642.3(AGL):c.378T>A (p.Cys126Ter) SNV Pathogenic 522549 rs1553183359 GRCh37: 1:100327897-100327897
GRCh38: 1:99862341-99862341
14 AGL NM_000642.3(AGL):c.1533dup (p.Tyr512fs) Duplication Pathogenic 526563 rs776733170 GRCh37: 1:100343300-100343301
GRCh38: 1:99877744-99877745
15 AGL NM_000642.3(AGL):c.1437C>A (p.Tyr479Ter) SNV Pathogenic 526564 rs140095668 GRCh37: 1:100343210-100343210
GRCh38: 1:99877654-99877654
16 AGL NM_000642.3(AGL):c.2001+5G>A SNV Pathogenic 526568 rs1553186489 GRCh37: 1:100346738-100346738
GRCh38: 1:99881182-99881182
17 AGL NM_000642.3(AGL):c.939del (p.Phe313fs) Deletion Pathogenic 526569 rs760589837 GRCh37: 1:100336404-100336404
GRCh38: 1:99870848-99870848
18 AGL NM_000642.3(AGL):c.967C>T (p.Arg323Ter) SNV Pathogenic 526570 rs757987101 GRCh37: 1:100340251-100340251
GRCh38: 1:99874695-99874695
19 AGL NM_000642.3(AGL):c.1614C>G (p.Tyr538Ter) SNV Pathogenic 526587 rs1188310172 GRCh37: 1:100345481-100345481
GRCh38: 1:99879925-99879925
20 AGL NM_000642.3(AGL):c.1226_1229TGGC[1] (p.Gly411fs) Microsatellite Pathogenic 526580 rs1553185474 GRCh37: 1:100340953-100340956
GRCh38: 1:99875397-99875400
21 AGL NM_000642.3(AGL):c.958+1G>A SNV Pathogenic 550103 rs1553184657 GRCh37: 1:100336426-100336426
GRCh38: 1:99870870-99870870
22 AGL NM_000642.3(AGL):c.1589C>G (p.Ser530Ter) SNV Pathogenic 554746 rs1553185905 GRCh37: 1:100343362-100343362
GRCh38: 1:99877806-99877806
23 AGL NM_000642.3(AGL):c.2717_2721del (p.Gln906fs) Deletion Pathogenic 558529 rs1553187957 GRCh37: 1:100353566-100353570
GRCh38: 1:99888010-99888014
24 AGL NM_000642.3(AGL):c.4385_4389dup (p.Tyr1464fs) Duplication Pathogenic 565317 rs1557794150 GRCh37: 1:100382189-100382190
GRCh38: 1:99916633-99916634
25 AGL NM_000642.3(AGL):c.251dup (p.Asn84fs) Duplication Pathogenic 574527 rs756175624 GRCh37: 1:100327225-100327226
GRCh38: 1:99861669-99861670
26 AGL NM_000642.3(AGL):c.525del (p.Ala176fs) Deletion Pathogenic 640973 rs1571232214 GRCh37: 1:100330005-100330005
GRCh38: 1:99864449-99864449
27 AGL NM_000642.3(AGL):c.861_864del (p.Ile288fs) Deletion Pathogenic 641579 rs1571243699 GRCh37: 1:100336327-100336330
GRCh38: 1:99870771-99870774
28 AGL NM_000642.3(AGL):c.609del (p.Lys203fs) Deletion Pathogenic 646363 rs1571232404 GRCh37: 1:100330086-100330086
GRCh38: 1:99864530-99864530
29 AGL NM_000642.3(AGL):c.2384C>A (p.Ser795Ter) SNV Pathogenic 648558 rs1206517501 GRCh37: 1:100349751-100349751
GRCh38: 1:99884195-99884195
30 AGL NM_000642.3(AGL):c.3444C>A (p.Tyr1148Ter) SNV Pathogenic 655389 rs776977863 GRCh37: 1:100366273-100366273
GRCh38: 1:99900717-99900717
31 AGL NM_000642.3(AGL):c.4525C>T (p.Gln1509Ter) SNV Pathogenic 656738 rs1480850606 GRCh37: 1:100387133-100387133
GRCh38: 1:99921577-99921577
32 AGL NM_000642.3(AGL):c.1180G>T (p.Glu394Ter) SNV Pathogenic 660008 rs1570433686 GRCh37: 1:100340807-100340807
GRCh38: 1:99875251-99875251
33 AGL NM_000642.3(AGL):c.3179C>G (p.Ser1060Ter) SNV Pathogenic 661058 rs774926455 GRCh37: 1:100358083-100358083
GRCh38: 1:99892527-99892527
34 AGL NM_000642.3(AGL):c.2727C>G (p.Tyr909Ter) SNV Pathogenic 661921 rs1239498701 GRCh37: 1:100353579-100353579
GRCh38: 1:99888023-99888023
35 AGL NM_000642.3(AGL):c.1565del (p.Gly522fs) Deletion Pathogenic 662810 rs1570438459 GRCh37: 1:100343336-100343336
GRCh38: 1:99877780-99877780
36 AGL NM_000642.3(AGL):c.289C>T (p.Gln97Ter) SNV Pathogenic 497124 rs1553183220 GRCh37: 1:100327265-100327265
GRCh38: 1:99861709-99861709
37 AGL NM_000642.3(AGL):c.576T>G (p.Tyr192Ter) SNV Pathogenic 801521 rs1571232325 GRCh37: 1:100330057-100330057
GRCh38: 1:99864501-99864501
38 AGL NM_000642.3(AGL):c.2083C>T (p.Gln695Ter) SNV Pathogenic 801524 rs1570445130 GRCh37: 1:100346929-100346929
GRCh38: 1:99881373-99881373
39 AGL NM_000642.3(AGL):c.3492C>G (p.Tyr1164Ter) SNV Pathogenic 801525 rs370202718 GRCh37: 1:100366321-100366321
GRCh38: 1:99900765-99900765
40 AGL NM_000642.3(AGL):c.3637C>T (p.Gln1213Ter) SNV Pathogenic 801527 rs1570487381 GRCh37: 1:100368287-100368287
GRCh38: 1:99902731-99902731
41 AGL NM_000642.3(AGL):c.3481_3589-407del Deletion Pathogenic 804334 GRCh37: 1:100366310-100367832
GRCh38: 1:99900754-99902276
42 AGL NM_000642.3(AGL):c.3481_3589-405del Deletion Pathogenic 813333 GRCh37: 1:100366308-100367832
GRCh38: 1:99900752-99902276
43 AGL NC_000001.11:g.(?_99862247)_(99862433_?)del Deletion Pathogenic 830644 GRCh37: 1:100327803-100327989
GRCh38:
44 AGL NC_000001.11:g.(?_99892422)_(99892617_?)del Deletion Pathogenic 832558 GRCh37: 1:100357978-100358173
GRCh38:
45 AGL NC_000001.11:g.(?_99910692)_(99910867_?)del Deletion Pathogenic 832911 GRCh37: 1:100376248-100376423
GRCh38:
46 AGL NM_000642.3(AGL):c.2905dup (p.Tyr969fs) Duplication Pathogenic 835381 GRCh37: 1:100356867-100356868
GRCh38: 1:99891311-99891312
47 AGL NM_000642.3(AGL):c.1571G>A (p.Arg524His) SNV Pathogenic 844261 GRCh37: 1:100343344-100343344
GRCh38: 1:99877788-99877788
48 AGL NM_000642.3(AGL):c.958+1G>T SNV Pathogenic 844910 GRCh37: 1:100336426-100336426
GRCh38: 1:99870870-99870870
49 AGL NM_000642.3(AGL):c.4087A>T (p.Lys1363Ter) SNV Pathogenic 855438 GRCh37: 1:100379220-100379220
GRCh38: 1:99913664-99913664
50 AGL NM_000642.3(AGL):c.2155C>T (p.Gln719Ter) SNV Pathogenic 856946 GRCh37: 1:100347001-100347001
GRCh38: 1:99881445-99881445

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

72
# Symbol AA change Variation ID SNP ID
1 AGL p.Gly1448Arg VAR_009231 rs118203964

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:

36
# 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
13.83 SLC37A4 SI SHMT2 PYGB PIK3C2A MGAT4C
2
Show member pathways
12.41 SLC37A4 SI PYGB MGAM HAS2 GYS1
3
Show member pathways
12.33 SLC37A4 PYGB GYS1 GBE1 GAA G6PC1
4
Show member pathways
11.67 PYGB GYS1 G6PC1
5 11.64 PYGB GYS1 G6PC1
6
Show member pathways
11.31 SI PYGB MGAM GYS1 GBE1 GAA
7 11.29 SLC37A4 SI MGAM G6PC1
8 11.11 PYGB GYS1 GBE1 AGL
9 10.36 SI MGAM

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 extracellular exosome GO:0070062 9.8 SI SHMT2 PYGB PIK3C2A MGAM GBE1
2 inclusion body GO:0016234 9.16 GYS1 AGL
3 tertiary granule membrane GO:0070821 9.13 STBD1 MGAM GAA
4 ficolin-1-rich granule membrane GO:0101003 8.8 STBD1 MGAM GAA

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

# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.83 STBD1 PYGB MGAM GAA AGL
2 metabolic process GO:0008152 9.73 SI PYGB MGAM GYS1 GAA AGL
3 carbohydrate metabolic process GO:0005975 9.7 STBD1 SI PYGB MGAM GBE1 GAA
4 glycogen biosynthetic process GO:0005978 9.5 GYS1 GBE1 AGL
5 triglyceride metabolic process GO:0006641 9.48 SLC37A4 G6PC1
6 glucose-6-phosphate transport GO:0015760 9.46 SLC37A4 G6PC1
7 polysaccharide digestion GO:0044245 9.4 SI MGAM
8 maltose metabolic process GO:0000023 9.37 MGAM GAA
9 glycogen catabolic process GO:0005980 9.35 STBD1 PYGB GAA G6PC1 AGL
10 glycogen metabolic process GO:0005977 9.23 STBD1 SLC37A4 PYGB GYS1 GBE1 GAA

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 10.06 SHMT2 PYGB PIK3C2A MGAT4C HAS2 GYS1
2 hydrolase activity, acting on glycosyl bonds GO:0016798 9.67 SI MGAM GAA AGL
3 carbohydrate binding GO:0030246 9.63 STBD1 SI MGAM GBE1 GAA AGL
4 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.56 SI MGAM GBE1 GAA
5 catalytic activity GO:0003824 9.56 SI SHMT2 PYGB MGAM GYS1 GBE1
6 alpha-1,4-glucosidase activity GO:0004558 9.5 SI MGAM GAA
7 polysaccharide binding GO:0030247 9.48 STBD1 AGL
8 alpha-glucosidase activity GO:0090599 9.46 MGAM GAA
9 maltose alpha-glucosidase activity GO:0032450 9.43 MGAM GAA
10 transferase activity, transferring glycosyl groups GO:0016757 9.17 PYGB MGAT4C HAS2 GYS1 GBE1 ALG1L

Sources for Glycogen Storage Disease Iii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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