MCID: GLY019
MIFTS: 50

Glycogen Storage Disease Iiia

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

MalaCards integrated aliases for Glycogen Storage Disease Iiia:

Name: Glycogen Storage Disease Iiia 54 71 29 13 69
Glycogen Storage Disease Type Iii 23 24 25 56 29 52 42 69
Cori Disease 23 50 24 25 56 71
Forbes Disease 23 50 25 56 71
Amylo-1,6-Glucosidase Deficiency 50 56 71 69
Glycogen Storage Disease Iiib 54 71 29 69
Glycogen Storage Disease Iii 12 71 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 71 69
Glycogen Storage Disease Iiid 71 69
Agl Deficiency 25 71
Gde Deficiency 56 71
Gsdiii 24 56
Gsd3 25 71
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 71
Glycogen Storage Disease, Type Iii 12
Amylo 1,6 Glucosidase Deficiency 12
Deficiency of Debranching Enzyme 12
Glycogen Storage Disease 3 71
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 71
Gsd Iiib 71
Gsd Iiic 71
Gsd Iiid 71
Gsd-Iii 71
Gd 3

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;

OMIM:

54
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 iiia:
Inheritance autosomal recessive inheritance


Classifications:



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 gardner-diamond syndrome and gaucher's disease, and has symptoms including short stature, hypertriglyceridemia and hypoglycemia. 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 Menthol and Hormones have been mentioned in the context of this disorder. Affiliated tissues include liver and eye, and related phenotype is liver/biliary system.

UniProtKB/Swiss-Prot : 71 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.

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 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)

Wikipedia : 72 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 Xi 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 top 50) (show all 68)
id Related Disease Score Top Affiliating Genes
1 gardner-diamond syndrome 11.5
2 gaucher's disease 11.4
3 gaucher disease, type i 11.0
4 gaucher disease, type ii 11.0
5 gaucher disease, type iii 11.0
6 hypogonadotropic hypogonadism 10.8
7 autoimmune thyroid disease 2 10.8
8 grover's disease 10.8
9 46xx sex reversal 1 10.7
10 herpes simplex 10.3
11 neurogenic arthropathy 10.0 G6PC GCG
12 glycogen storage disease 9.9
13 congenital nonspherocytic hemolytic anemia 9.9
14 hemolytic anemia 9.9
15 iris mixed cell melanoma 9.9 CALCA GCG
16 liver cirrhosis 9.9
17 keratitis 9.9
18 hepatitis 9.9
19 embryonal testis carcinoma 9.9 AFP G6PC
20 fructose intolerance, hereditary 9.8 AGL G6PC GCG
21 intracranial hypotension 9.8 AFP G6PC
22 graves' disease 9.8
23 adenoma 9.8
24 nephrogenic systemic fibrosis 9.8
25 diabetes mellitus, insulin-dependent, 20 9.8 AFP G6PC
26 hypertrichosis 9.8 G6PC GCG
27 triple x syndrome 9.8 AGL G6PC GCG
28 hepatocellular adenoma 9.8
29 hepatocellular carcinoma 9.8
30 nonalcoholic steatohepatitis 9.8
31 dystonia, dopa-responsive, with or without hyperphenylalaninemia 9.7 G6PC GCG PYGL
32 neuromuscular disease 9.7
33 laryngotracheitis 9.7
34 cerebritis 9.7
35 genital herpes 9.7
36 benign shuddering attacks 9.7 CALCA GCG
37 transverse myelitis 9.6
38 neuroblastoma 9.6
39 weber syndrome 9.6
40 newcastle disease 9.6
41 stromal keratitis 9.6
42 brain glioma 9.6
43 myelitis 9.6
44 endotheliitis 9.6
45 ischemia 9.6
46 bell's palsy 9.6
47 favism 9.6
48 renovascular hypertension 9.6
49 neuroendocrine tumor 9.6
50 cataract 9.6

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 via clinical synopsis from OMIM:

54

Growth- Height:
short stature

Abdomen- Liver:
hepatomegaly
hepatic fibrosis

Laboratory- Abnormalities:
hyperlipidemia
increased serum creatine kinase
hypoglycemia
amylo-1,6-glucosidase deficiency
normal blood lactate
more
Metabolic Features:
hypoglycemia

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

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

Growth- Other:
growth retardation

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

Head And Neck- Face:
midface hypoplasia

Head And Neck- Eyes:
deep-set eyes

Cardiovascular- Heart:
cardiomyopathy
ventricular hypertrophy on ecg


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 hallmark (90%) Very frequent (99-80%) HP:0004322
2 hypertriglyceridemia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002155
3 hypoglycemia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001943
4 immunodeficiency 56 32 hallmark (90%) Very frequent (99-80%) HP:0002721
5 myopathy 56 32 frequent (33%) Frequent (79-30%) HP:0003198
6 intellectual disability, mild 56 32 hallmark (90%) Very frequent (99-80%) HP:0001256
7 full cheeks 56 32 hallmark (90%) Very frequent (99-80%) HP:0000293
8 hepatomegaly 32 HP:0002240
9 depressed nasal bridge 32 HP:0005280
10 hyperlipidemia 32 HP:0003077
11 muscle weakness 32 HP:0001324
12 broad nasal tip 32 HP:0000455
13 ventricular hypertrophy 32 HP:0001714
14 cardiomyopathy 32 HP:0001638
15 hepatic fibrosis 32 HP:0001395
16 midface retrusion 32 HP:0011800
17 malar flattening 32 HP:0000272
18 distal amyotrophy 32 HP:0003693
19 thin upper lip vermilion 32 HP:0000219
20 elevated hepatic transaminases 32 HP:0002910
21 elevated serum creatine phosphokinase 32 HP:0003236
22 deeply set eye 32 HP:0000490

MGI Mouse Phenotypes related to Glycogen Storage Disease Iiia:

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

Drugs & Therapeutics for Glycogen Storage Disease Iiia

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Menthol Approved 2216-51-5 16666
2 Hormones

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Acute Nutritional Ketosis in GSD IIIa Recruiting NCT03011203
2 Energy Supplements to Improve Exercise Tolerance in Metabolic Myopathies Recruiting NCT02448667

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:

71
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 GRCh38 Chromosome 1, 99861520: 99861520
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 GRCh38 Chromosome 1, 99864592: 99864592
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 GRCh37 Chromosome 1, 100342121: 100342121
23 AGL NM_000642.2(AGL): c.2309-1G> A single nucleotide variant Likely pathogenic rs786204481 GRCh37 Chromosome 1, 100349675: 100349675
24 AGL NM_000642.2(AGL): c.3297G> A (p.Trp1099Ter) single nucleotide variant Likely pathogenic rs786204490 GRCh37 Chromosome 1, 100361879: 100361879
25 AGL NM_000642.2(AGL): c.3444C> G (p.Tyr1148Ter) single nucleotide variant Likely pathogenic rs776977863 GRCh37 Chromosome 1, 100366273: 100366273
26 AGL NM_000642.2(AGL): c.4197delA (p.Ala1400Leufs) deletion Likely pathogenic rs786204595 GRCh37 Chromosome 1, 100380980: 100380980
27 AGL NM_000642.2(AGL): c.4221dupA (p.Leu1408Ilefs) duplication Likely pathogenic rs786204655 GRCh37 Chromosome 1, 100381004: 100381004
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 GRCh38 Chromosome 1, 99851106: 99851106
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 GRCh38 Chromosome 1, 99862405: 99862405
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 extracellular region GO:0005576 9.35 AFP AGL CALCA GCG PYGL
2 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 metabolic process GO:0008152 9.61 AGL GAA PYGL
2 neutrophil degranulation GO:0043312 9.58 AGL GAA PYGL
3 carbohydrate metabolic process GO:0005975 9.43 GAA GBE1 PYGL
4 positive regulation of cAMP biosynthetic process GO:0030819 9.37 CALCA GCG
5 feeding behavior GO:0007631 9.32 CALCA GCG
6 glycogen catabolic process GO:0005980 9.26 AGL G6PC GAA PYGL
7 glycogen biosynthetic process GO:0005978 9.16 AGL GBE1
8 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, acting on glycosyl bonds GO:0016798 9.26 AGL GAA
3 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 8.96 GAA GBE1
4 carbohydrate binding GO:0030246 8.92 AGL GAA GBE1 PYGL

Sources for Glycogen Storage Disease Iiia

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