GSD1A
MCID: GLY060
MIFTS: 57

Glycogen Storage Disease Ia (GSD1A) malady

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

Aliases & Classifications for Glycogen Storage Disease Ia

Aliases & Descriptions for Glycogen Storage Disease Ia:

Name: Glycogen Storage Disease Ia 54 66 13
Glycogen Storage Disease Type I 12 23 24 25 52 42 69
Von Gierke Disease 12 50 24 25 66
Hepatorenal Form of Glycogen Storage Disease 50 25 66
Glucose-6-Phosphatase Deficiency 50 24 66
Glycogen Storage Disease Type Ia 24 29 69
Hepatorenal Glycogenosis 50 25 66
Glucose-6-Phosphate Transport Defect 25 69
Glycogen Storage Disease Type 1a 50 56
Glycogen Storage Disease 1a 50 66
Glycogen Storage Disease I 12 14
Von Gierke's Disease 12 25
Gsdia 24 56
Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency Type Ia 56
Glycogenosis Due to Glucose-6-Phosphatase Deficiency Type 1a 56
Glycogenosis Due to Glucose-6-Phosphatase Deficiency Type Ia 56
Glucose-6-Phosphatase Deficiency Glycogen Storage Disease 50
Glycogen Storage Disease Due to G6p Deficiency Type Ia 56
Deficiency of Glucose-6-Phosphatase 12
Gsd Due to G6p Deficiency Type 1a 56
Gsd Due to G6p Deficiency Type Ia 56
Glycogen Storage Disease, Type I 12
Glycogen Storage Disease Type 1 29
Glucose-6-Phosphate Deficiency 25
G6p Deficiency Type 1a 56
Glycogenosis Type Ia 56
Glycogenosis Type I 12
Glycogenosis Type 1 50
Gsd Type 1a 56
Gsd Type I 25
Gsd Ia 24
Gsd-Ia 66
Gsd I 25
Gsd1a 66
Gsd1 50
Gsdi 24

Characteristics:

Orphanet epidemiological data:

56
glycogen storage disease due to glucose-6-phosphatase deficiency type ia
Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal;

HPO:

32
glycogen storage disease ia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 232200
Disease Ontology 12 DOID:2749
ICD10 33 E74.01
MeSH 42 D005953
NCIt 47 C84733
Orphanet 56 ORPHA79258
ICD10 via Orphanet 34 E74.0
UMLS 69 C0017920

Summaries for Glycogen Storage Disease Ia

NIH Rare Diseases : 50 glycogen storage disease type 1 is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. the accumulation of glycogen in certain organs and tissues, especially the liver, kidneys, and small intestines, impairs their ability to function normally. researchers have described two types of glycogen storage disease type 1, which differ in their signs and symptoms and genetic cause. these types are known as glycogen storage disease type ia and glycogen storage disease type ib. glycogen storage disease type 1a is characterized by growth retardation leading to short stature and accumulation of glycogen and fat in the liver and kidneys. although some newborns present with severe hypoglycemia, it is more common for infants to present at age three to four months with hepatomegaly, lactic acidosis, hyperuricemia, hyperlipidemia, and/or hypoglycemic seizures. untreated children typically have doll-like faces with fat cheeks and relatively thin extremities. xanthoma and diarrhea may be present. impaired platelet function can lead to a bleeding tendency, making epistaxis a frequent problem. glycogen storage disease type 1a is caused by the deficiency of glucose-6-phosphatase (g6pase) catalytic activity which results from mutations in the g6pc gene. this condition is inherited in an autosomal recessive pattern.  last updated: 12/8/2010

MalaCards based summary : Glycogen Storage Disease Ia, also known as glycogen storage disease type i, is related to glycogen storage disease ib and fanconi-bickel syndrome, and has symptoms including intermittent diarrhea, hypertension and hepatomegaly. An important gene associated with Glycogen Storage Disease Ia is G6PC (Glucose-6-Phosphatase Catalytic Subunit), and among its related pathways/superpathways are Metabolism and Regulation of lipid metabolism Insulin signaling-generic cascades. The drugs glucagon and Gastrointestinal Agents have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and small intestine, and related phenotype is liver/biliary system.

UniProtKB/Swiss-Prot : 66 Glycogen storage disease 1A: A metabolic disorder characterized by impairment of terminal steps of glycogenolysis and gluconeogenesis. Patients manifest a wide range of clinical symptoms and biochemical abnormalities, including hypoglycemia, severe hepatomegaly due to excessive accumulation of glycogen, kidney enlargement, growth retardation, lactic acidemia, hyperlipidemia, and hyperuricemia.

Genetics Home Reference : 25 Glycogen storage disease type I (also known as GSDI or von Gierke disease) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially the liver, kidneys, and small intestines, impairs their ability to function normally.

OMIM : 54 Glycogen storage disease type I, also known as von Gierke disease, typically manifests during the first year of life... (232200) more...

Disease Ontology : 12 A glycogen storage disease that has material basis in deficiency of the glucose-6-phosphatase enzyme which impairs the ability of the liver to produce free glucose from glycogen and from gluconeogenesis and is characterized by accumulation of glycogen and fat in the liver and kidneys, resulting in hepatomegaly and renomegaly.

GeneReviews: NBK1312

Related Diseases for Glycogen Storage Disease Ia

Diseases in the Glycogen Storage Disease family:

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

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

(show all 20)
id Related Disease Score Top Affiliating Genes
1 glycogen storage disease ib 11.4
2 fanconi-bickel syndrome 11.2
3 glycogen storage disease due to glucose-6-phosphatase deficiency 11.2
4 hyperchylomicronemia, late-onset 11.1
5 mcardle disease 11.0
6 glycogen storage disease, type ixa1 10.9
7 glycogen storage disease 10.5
8 hepatitis 10.1
9 leukemia, acute lymphoblastic 3 9.9 G6PC GALK1
10 atherosclerosis 9.9
11 adenoma 9.9
12 hyperphenylalaninemia, bh4-deficient, b 9.9 G6PC PYGL
13 bardet-biedl syndrome 3 9.7 AGL G6PC GBE1 PYGL
14 stickler syndrome, type ii 9.7 AGL G6PC GBE1 PYGL
15 spinal muscular atrophy, lower extremity-predominant, 2, ad 9.7 AGL ALDOB G6PC G6PC3
16 choledocholithiasis 9.6
17 gilbert syndrome 9.6
18 hemangioma 9.5 AGL G6PC GBE1 PHKA2 PYGL SLC37A4
19 anuria 9.4 AGL ALDOB G6PC GALK1 GBE1 PHKA2
20 alexander disease 8.6 AGL ALDOB G6PC G6PC3 GALK1 GBE1

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



Diseases related to Glycogen Storage Disease Ia

Symptoms & Phenotypes for Glycogen Storage Disease Ia

Symptoms by clinical synopsis from OMIM:

232200

Clinical features from OMIM:

232200

Human phenotypes related to Glycogen Storage Disease Ia:

32 (show all 24)
id Description HPO Frequency HPO Source Accession
1 intermittent diarrhea 32 HP:0002254
2 hypertension 32 HP:0000822
3 hepatomegaly 32 HP:0002240
4 short stature 32 HP:0004322
5 proteinuria 32 HP:0000093
6 delayed puberty 32 HP:0000823
7 osteoporosis 32 HP:0000939
8 decreased muscle mass 32 HP:0003199
9 hypoglycemia 32 HP:0001943
10 abnormal bleeding 32 HP:0001892
11 elevated hepatic transaminases 32 HP:0002910
12 pancreatitis 32 HP:0001733
13 lactic acidosis 32 HP:0003128
14 hyperlipidemia 32 HP:0003077
15 nephrolithiasis 32 HP:0000787
16 gout 32 HP:0001997
17 xanthomatosis 32 HP:0000991
18 hepatocellular carcinoma 32 HP:0001402
19 protuberant abdomen 32 HP:0001538
20 focal segmental glomerulosclerosis 32 HP:0000097
21 decreased glomerular filtration rate 32 HP:0012213
22 enlarged kidney 32 HP:0000105
23 lipemia retinalis 32 HP:0000660
24 doll-like facies 32 HP:0000295

UMLS symptoms related to Glycogen Storage Disease Ia:


intermittent diarrhea

MGI Mouse Phenotypes related to Glycogen Storage Disease Ia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 9.1 AGL ALDOB G6PC GBE1 LPL SLC37A4

Drugs & Therapeutics for Glycogen Storage Disease Ia

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

(show top 50) (show all 56)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 glucagon Phase 4
2 Gastrointestinal Agents Phase 4,Phase 1
3 Glucagon-Like Peptide 1 Phase 4
4 Hormone Antagonists Phase 4
5 Hormones Phase 4
6 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
7 Incretins Phase 4
8 insulin Phase 2
9 Pharmaceutical Solutions Phase 2,Phase 1
10 Insulin, Globin Zinc Phase 2
11
Acetaminophen Approved Phase 1 103-90-2 1983
12
Histamine Approved, Investigational Phase 1 75614-87-8, 51-45-6 774
13
rituximab Approved Phase 1 174722-31-7 10201696
14
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
15
Lidocaine Approved, Vet_approved Phase 1 137-58-6 3676
16
Diphenhydramine Approved Phase 1 58-73-1, 147-24-0 3100
17
Everolimus Approved Phase 1 159351-69-6 6442177
18
Benzocaine Approved Phase 1 1994-09-7, 94-09-7 2337
19
Promethazine Approved Phase 1 60-87-7 4927
20
Sirolimus Approved, Investigational Phase 1 53123-88-9 5284616 6436030 46835353
21 tannic acid Approved, Nutraceutical Phase 1
22
Histamine Phosphate Phase 1 51-74-1 65513
23 Analgesics Phase 1
24 Sodium Channel Blockers Phase 1
25 Neurotransmitter Agents Phase 1
26 Analgesics, Non-Narcotic Phase 1
27 Histamine Antagonists Phase 1
28 Histamine H1 Antagonists Phase 1
29 Dermatologic Agents Phase 1
30 Anesthetics Phase 1
31 Diuretics, Potassium Sparing Phase 1
32 Peripheral Nervous System Agents Phase 1
33 Anesthetics, Local Phase 1
34 Anti-Allergic Agents Phase 1
35 Hypnotics and Sedatives Phase 1
36 Anti-Arrhythmia Agents Phase 1
37 Anti-Bacterial Agents Phase 1
38 Immunoglobulins Phase 1
39 gamma-Globulins Phase 1
40 Anti-Infective Agents Phase 1
41 Immunoglobulins, Intravenous Phase 1
42 Immunosuppressive Agents Phase 1
43 Antiemetics Phase 1
44 Antifungal Agents Phase 1
45 Antibiotics, Antitubercular Phase 1
46 Rho(D) Immune Globulin Phase 1
47 Antibodies Phase 1
48 Antipyretics Phase 1
49 Antirheumatic Agents Phase 1
50 Autonomic Agents Phase 1

Interventional clinical trials:

(show all 27)
id Name Status NCT ID Phase
1 Glucagon Efficiency After High and Low Carbohydrate Diet Completed NCT02578498 Phase 4
2 BMN 701 Phase 3 in rhGAA Exposed Subjects With Late Onset Pompe Disease (INSPIRE Study) Terminated NCT01924845 Phase 3
3 Safety Study of Recombinant Adeno-Associated Virus Acid Alpha-Glucosidase to Treat Pompe Disease Completed NCT00976352 Phase 1, Phase 2
4 Effectiveness of Oral Insulin in Unstable Type 1 Diabetes Patients Completed NCT00867594 Phase 2
5 VAL-1221 Delivered Intravenously in Ambulatory and Ventilator-free Patients With Late-Onset Pompe Disease Recruiting NCT02898753 Phase 1, Phase 2
6 Diet Treatment Glucose Transporter Type 1 Deficiency (G1D) Not yet recruiting NCT03181399 Phase 2
7 A Study to Assess Safety and Efficacy of NeoGAA Administered Every Other Week in Pediatric Patients With Infantile-onset Pompe Disease Previously Treated With Alglucosidase Alfa Not yet recruiting NCT03019406 Phase 2
8 Treatment Development of Triheptanoin (G1D) Recruiting NCT03041363 Phase 1
9 Re-administration of Intramuscular AAV9 in Patients With Late-Onset Pompe Disease Not yet recruiting NCT02240407 Phase 1
10 Overnight Feeding Study in Glycogen Storage Disease Type 1 Completed NCT01961076
11 Sleep and Quality of Life in Patients With Glycogen Storage Disease on Standard Versus Modified Uncooked Cornstarch Completed NCT02054832
12 Study of the Relationship Between Glycogen Storage Disease Type Ia and Inflammatory Bowel Disease Completed NCT01854242
13 Non Invasive Assessment of Liver Glycogen Kinetics and ATP Synthesis in Type1 Diabetics Completed NCT00481598
14 The Effect of Hyperglycaemia on Local Energy Stores in the Working Muscle in Patients With Type 1 Diabetes Mellitus Completed NCT00325559
15 Safety Study of Repeated Doses of Glucagon on Animal Starch in the Liver Completed NCT01986231
16 Impact of Physical Activity on Blood Glucose Stability and Energy Stores in Individuals With Type 1 Diabetes Completed NCT02068638
17 Study of Glycogen Storage Disease Expression in Carriers Completed NCT02057731
18 Biomarker for Glycogen Storage Diseases Recruiting NCT02385162
19 Glycosade v UCCS in the Dietary Management of Hepatic GSD Recruiting NCT02318966
20 A Natural History Study of Adult Onset Pompe Disease Using Muscle MRI Recruiting NCT01914536
21 Investigating Pompe Prevalence in Neuromuscular Medicine Academic Practices Recruiting NCT02838368
22 Frequency of Pompe's Disease and Neuromuscular Etiologies in Patients With Restrictive Respiratory Failure Associated With Signs of Muscle Weakness Recruiting NCT02746718
23 Lipid and Glycogen Metabolism in Patients With Impaired Glucose Tolerance and Calcium Sensing Receptor Mutations Recruiting NCT02023489
24 Comparison of the Effect of a Novel Starch (Glycosade) Versus Gastrostomy Tube-Dextrose Infusion on Overnight Euglycaemia Control in Children With Glycogen Storage Disease Type I: Open Label Demonstration Trial Active, not recruiting NCT02176096
25 Search for Serum/Plasma Biomarkers in Pompe's Disease Not yet recruiting NCT03045042
26 Clinical Evaluation of a Non-Invasive Hypoglycemia Detector in a Glycogen Storage Disease Population Terminated NCT02338817
27 A Prospective, Noninterventional, Observational Study of Late-Onset Pompe Disease Terminated NCT02221362

Search NIH Clinical Center for Glycogen Storage Disease Ia

Cochrane evidence based reviews: glycogen storage disease type i

Genetic Tests for Glycogen Storage Disease Ia

Genetic tests related to Glycogen Storage Disease Ia:

id Genetic test Affiliating Genes
1 Glycogen Storage Disease Type 1a 29
2 Glycogen Storage Disease, Type I 29
3 Glycogen Storage Disease Type I 24 SLC37A4
4 Glycogen Storage Disease Type Ia 24 G6PC

Anatomical Context for Glycogen Storage Disease Ia

MalaCards organs/tissues related to Glycogen Storage Disease Ia:

39
Kidney, Liver, Small Intestine

Publications for Glycogen Storage Disease Ia

Articles related to Glycogen Storage Disease Ia:

(show all 14)
id Title Authors Year
1
Neonatal Glycogen Storage Disease Ia. ( 25182376 )
2014
2
Pregnancy in women with glycogen storage disease Ia and Ib. ( 24476649 )
2014
3
A novel type heterozygous mutation in the glucose-6-phosphatase gene in a Chinese patient with glycogen storage disease Ia. ( 23000067 )
2012
4
Adiponectin levels correlate with the severity of hypertriglyceridaemia in glycogen storage disease Ia. ( 19267215 )
2009
5
A detailed characterization of the adult mouse model of glycogen storage disease Ia. ( 19581879 )
2009
6
Preemptive living donor liver transplantation in glycogen storage disease Ia: case report. ( 18929868 )
2008
7
Advanced glycation end products and the absence of premature atherosclerosis in glycogen storage disease Ia. ( 17570077 )
2007
8
Combined liver-kidney transplantation in glycogen storage disease Ia: a case beyond the guidelines. ( 17457869 )
2007
9
[Prenatal diagnosis of glycogen storage disease Ia by screening for hot spot mutations in combination with the 1176 nucleotide polymorphism linkage analysis]. ( 15696478 )
2005
10
Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population. ( 15316959 )
2004
11
A case of glycogen storage disease IA with multiple hepatic tumors managed by transcatheter arterial embolization and an acarbose diet. ( 11593132 )
2001
12
Identification of a novel missense mutation (T16A) in the glucose-6- phosphatase gene in a Taiwan Chinese patient with glycogen storage disease Ia (von Gierke disease). ( 10738005 )
2000
13
A novel missense mutation (H119L) identified in a Taiwan Chinese family with glycogen storage disease Ia (von Gierke disease). ( 11058910 )
2000
14
Management of hepatic adenoma in glycogen storage disease Ia. ( 7714690 )
1995

Variations for Glycogen Storage Disease Ia

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

66 (show top 50) (show all 54)
id Symbol AA change Variation ID SNP ID
1 G6PC p.Asp38Val VAR_005237 rs104894565
2 G6PC p.Trp77Arg VAR_005238 rs104894566
3 G6PC p.Arg83Cys VAR_005239 rs1801175
4 G6PC p.Arg83His VAR_005240 rs1801176
5 G6PC p.Arg83Ile VAR_005241
6 G6PC p.Glu110Lys VAR_005242 rs104894567
7 G6PC p.Ala124Thr VAR_005243 rs104894568
8 G6PC p.Val166Gly VAR_005244 rs104894571
9 G6PC p.Gly184Glu VAR_005245 rs104894569
10 G6PC p.Gly188Arg VAR_005246 rs80356482
11 G6PC p.Leu211Pro VAR_005247
12 G6PC p.Gly222Arg VAR_005248
13 G6PC p.Gly266Val VAR_005249
14 G6PC p.Gly270Val VAR_005250 rs80356483
15 G6PC p.Arg295Cys VAR_005251 rs104894563
16 G6PC p.Val338Phe VAR_005253 rs367727229
17 G6PC p.Ile341Asn VAR_005254 rs387906505
18 G6PC p.Gln20Arg VAR_009202
19 G6PC p.Gln54Pro VAR_009203
20 G6PC p.Gly81Arg VAR_009204 rs756632286
21 G6PC p.Thr108Ile VAR_009205
22 G6PC p.Trp156Leu VAR_009206
23 G6PC p.Gly188Asp VAR_009207 rs760981149
24 G6PC p.Met5Arg VAR_046249
25 G6PC p.Thr16Ala VAR_046250 rs761839506
26 G6PC p.Thr16Arg VAR_046251
27 G6PC p.Trp63Arg VAR_046252
28 G6PC p.Ala65Pro VAR_046253
29 G6PC p.Gly68Arg VAR_046254
30 G6PC p.Lys76Asn VAR_046255
31 G6PC p.Thr111Ile VAR_046256
32 G6PC p.Pro113Leu VAR_046257
33 G6PC p.His119Leu VAR_046258
34 G6PC p.Gly122Asp VAR_046259 rs759982943
35 G6PC p.Val166Ala VAR_046260
36 G6PC p.Arg170Gln VAR_046261 rs750470654
37 G6PC p.Phe177Cys VAR_046262
38 G6PC p.Pro178Ser VAR_046263
39 G6PC p.His179Pro VAR_046264
40 G6PC p.Gly184Val VAR_046265
41 G6PC p.Gly188Ser VAR_046266 rs80356482
42 G6PC p.Tyr209Cys VAR_046268
43 G6PC p.Trp236Arg VAR_046269
44 G6PC p.Ala241Thr VAR_046270
45 G6PC p.Pro257Leu VAR_046271
46 G6PC p.Asn264Lys VAR_046272
47 G6PC p.Leu265Pro VAR_046273
48 G6PC p.Gly270Arg VAR_046274
49 G6PC p.Gly270Trp VAR_046275
50 G6PC p.Ser298Pro VAR_046276 rs770003650

ClinVar genetic disease variations for Glycogen Storage Disease Ia:

6 (show all 46)
id Gene Variation Type Significance SNP ID Assembly Location
1 SLC37A4 NM_001164277.1(SLC37A4): c.1015G> T (p.Gly339Cys) single nucleotide variant Pathogenic rs80356490 GRCh37 Chromosome 11, 118896009: 118896009
2 SLC37A4 NM_001164277.1(SLC37A4): c.1063G> T (p.Glu355Ter) single nucleotide variant Pathogenic rs121908975 GRCh37 Chromosome 11, 118895961: 118895961
3 SLC37A4 NM_001164277.1(SLC37A4): c.352T> C (p.Trp118Arg) single nucleotide variant Pathogenic rs80356489 GRCh37 Chromosome 11, 118898933: 118898933
4 SLC37A4 SLC37A4, 4-BP DEL, 2-BP INS, NT1094 indel Pathogenic
5 SLC37A4 SLC37A4, 170-BP DEL, NT148 deletion Pathogenic
6 SLC37A4 NM_001467.5(SLC37A4): c.1042_1043delCT (p.Leu348Valfs) deletion Pathogenic rs80356491 GRCh37 Chromosome 11, 118895981: 118895982
7 SLC37A4 NM_001164277.1(SLC37A4): c.287G> A (p.Trp96Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121908976 GRCh37 Chromosome 11, 118898998: 118898998
8 SLC37A4 SLC37A4, 12-BP INS, NT1103 insertion Pathogenic
9 SLC37A4 NM_001164277.1(SLC37A4): c.703_705delGTG (p.Val236del) deletion Pathogenic rs121908977 GRCh37 Chromosome 11, 118897726: 118897728
10 SLC37A4 SLC37A4, IVS7, G-T, +1 single nucleotide variant Pathogenic
11 SLC37A4 SLC37A4, IVS1, G-A, +1 single nucleotide variant Pathogenic
12 SLC37A4 NM_001164277.1(SLC37A4): c.83G> A (p.Arg28His) single nucleotide variant Pathogenic rs121908978 GRCh37 Chromosome 11, 118899997: 118899997
13 SLC37A4 NM_001164277.1(SLC37A4): c.1243C> T (p.Arg415Ter) single nucleotide variant Pathogenic rs121908979 GRCh37 Chromosome 11, 118895667: 118895667
14 SLC37A4 NM_001164277.1(SLC37A4): c.1016G> A (p.Gly339Asp) single nucleotide variant Pathogenic rs121908980 GRCh37 Chromosome 11, 118896008: 118896008
15 SLC37A4 SLC37A4, 794G-A single nucleotide variant Pathogenic
16 G6PC NM_000151.3(G6PC): c.379_380dupTA (p.Tyr128Thrfs) duplication Pathogenic/Likely pathogenic rs80356488 GRCh37 Chromosome 17, 41059578: 41059579
17 G6PC NM_000151.3(G6PC): c.247C> T (p.Arg83Cys) single nucleotide variant Pathogenic rs1801175 GRCh37 Chromosome 17, 41055964: 41055964
18 G6PC NM_000151.3(G6PC): c.883C> T (p.Arg295Cys) single nucleotide variant Pathogenic/Likely pathogenic rs104894563 GRCh37 Chromosome 17, 41063252: 41063252
19 G6PC NM_000151.3(G6PC): c.1039C> T (p.Gln347Ter) single nucleotide variant Pathogenic rs80356487 GRCh37 Chromosome 17, 41063408: 41063408
20 G6PC NM_000151.3(G6PC): c.229T> C (p.Trp77Arg) single nucleotide variant Pathogenic/Likely pathogenic rs104894566 GRCh37 Chromosome 17, 41053122: 41053122
21 G6PC NM_000151.3(G6PC): c.230+4A> G single nucleotide variant Pathogenic rs587776757 GRCh37 Chromosome 17, 41053127: 41053127
22 G6PC NM_000151.3(G6PC): c.648G> T (p.Leu216=) single nucleotide variant Pathogenic rs80356484 GRCh37 Chromosome 17, 41063017: 41063017
23 G6PC NM_000151.3(G6PC): c.113A> T (p.Asp38Val) single nucleotide variant Pathogenic rs104894565 GRCh37 Chromosome 17, 41053006: 41053006
24 G6PC NM_000151.3(G6PC): c.328G> A (p.Glu110Lys) single nucleotide variant Pathogenic rs104894567 GRCh37 Chromosome 17, 41056045: 41056045
25 G6PC NM_000151.3(G6PC): c.370G> A (p.Ala124Thr) single nucleotide variant Pathogenic rs104894568 GRCh37 Chromosome 17, 41059569: 41059569
26 G6PC NM_000151.3(G6PC): c.551G> A (p.Gly184Glu) single nucleotide variant Pathogenic rs104894569 GRCh37 Chromosome 17, 41061424: 41061424
27 G6PC NM_000151.3(G6PC): c.562G> C (p.Gly188Arg) single nucleotide variant Pathogenic rs80356482 GRCh37 Chromosome 17, 41061435: 41061435
28 G6PC NM_000151.3(G6PC): c.248G> A (p.Arg83His) single nucleotide variant Pathogenic rs1801176 GRCh37 Chromosome 17, 41055965: 41055965
29 G6PC NM_000151.3(G6PC): c.497T> G (p.Val166Gly) single nucleotide variant Pathogenic rs104894571 GRCh37 Chromosome 17, 41061370: 41061370
30 G6PC NM_000151.3(G6PC): c.724C> T (p.Gln242Ter) single nucleotide variant Pathogenic/Likely pathogenic rs80356485 GRCh37 Chromosome 17, 41063093: 41063093
31 G6PC NM_000151.3(G6PC): c.79delC (p.Gln27Argfs) deletion Pathogenic rs80356479 GRCh37 Chromosome 17, 41052972: 41052972
32 G6PC NM_000151.3(G6PC): c.809G> T (p.Gly270Val) single nucleotide variant Pathogenic/Likely pathogenic rs80356483 GRCh37 Chromosome 17, 41063178: 41063178
33 G6PC NM_000151.3(G6PC): c.1022T> A (p.Ile341Asn) single nucleotide variant Pathogenic rs387906505 GRCh37 Chromosome 17, 41063391: 41063391
34 SLC37A4 NM_001164277.1(SLC37A4): c.742C> T (p.Gln248Ter) single nucleotide variant Pathogenic/Likely pathogenic rs781784543 GRCh38 Chromosome 11, 119026979: 119026979
35 G6PC NM_000151.3(G6PC): c.189G> A (p.Trp63Ter) single nucleotide variant Likely pathogenic rs764920787 GRCh38 Chromosome 17, 42901065: 42901065
36 G6PC NM_000151.3(G6PC): c.969C> A (p.Tyr323Ter) single nucleotide variant Pathogenic/Likely pathogenic rs780226142 GRCh37 Chromosome 17, 41063338: 41063338
37 G6PC NM_000151.3(G6PC): c.1012G> T (p.Val338Phe) single nucleotide variant Likely pathogenic rs367727229 GRCh38 Chromosome 17, 42911364: 42911364
38 G6PC NM_000151.3(G6PC): c.79C> T (p.Gln27Ter) single nucleotide variant Likely pathogenic rs1057516367 GRCh37 Chromosome 17, 41052972: 41052972
39 G6PC NM_000151.3(G6PC): c.136delC (p.Leu46Serfs) deletion Likely pathogenic rs1057517227 GRCh38 Chromosome 17, 42901012: 42901012
40 G6PC NM_000151.3(G6PC): c.150_151delGT (p.Trp50Cysfs) deletion Likely pathogenic rs1057516674 GRCh38 Chromosome 17, 42901026: 42901027
41 G6PC NM_000151.3(G6PC): c.161A> C (p.Gln54Pro) single nucleotide variant Likely pathogenic rs1057517008 GRCh38 Chromosome 17, 42901037: 42901037
42 G6PC NM_000151.3(G6PC): c.499dupT (p.Cys167Leufs) duplication Likely pathogenic rs1057516630 GRCh37 Chromosome 17, 41061372: 41061372
43 G6PC NM_000151.3(G6PC): c.798delC (p.Thr267Argfs) deletion Likely pathogenic rs749323139 GRCh38 Chromosome 17, 42911150: 42911150
44 G6PC NM_000151.3(G6PC): c.858delG (p.Lys287Asnfs) deletion Likely pathogenic rs1057516858 GRCh37 Chromosome 17, 41063227: 41063227
45 G6PC NM_000151.3(G6PC): c.980_982delTCT (p.Phe327del) deletion Pathogenic/Likely pathogenic rs80356486 GRCh38 Chromosome 17, 42911332: 42911334
46 G6PC NM_000151.3(G6PC): c.551G> T (p.Gly184Val) single nucleotide variant Pathogenic rs104894569 GRCh38 Chromosome 17, 42909407: 42909407

Expression for Glycogen Storage Disease Ia

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

Pathways for Glycogen Storage Disease Ia

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

(show all 12)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.65 AGL ALDOB G6PC G6PC3 GALK1 GBE1
2
Show member pathways
12.55 G6PC G6PC3 PHKA2 PYGL
3
Show member pathways
12.14 AGL ALDOB G6PC G6PC3 GBE1 PHKA2
4
Show member pathways
12.03 AGL ALDOB G6PC G6PC3 GALK1 GBE1
5
Show member pathways
11.72 AGL G6PC G6PC3 GALK1 GBE1 PYGL
6 11.68 G6PC G6PC3 PHKA2 PYGL
7
Show member pathways
11.67 G6PC G6PC3 PYGL
8
Show member pathways
11.61 G6PC G6PC3 SLC37A4
9 11.35 G6PC G6PC3
10 11.22 G6PC G6PC3 SLC37A4
11 11.14 ALDOB G6PC
12 11.11 AGL GBE1 PHKA2 PYGL

GO Terms for Glycogen Storage Disease Ia

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

id Name GO ID Score Top Affiliating Genes
1 integral component of endoplasmic reticulum membrane GO:0030176 8.8 G6PC G6PC3 SLC37A4

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

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.65 AGL GALK1 GBE1 PHKA2 PYGL
2 gluconeogenesis GO:0006094 9.54 ALDOB G6PC G6PC3
3 response to glucose GO:0009749 9.52 LPL SLC37A4
4 cholesterol homeostasis GO:0042632 9.51 G6PC LPL
5 glucose transport GO:0015758 9.5 G6PC G6PC3 SLC37A4
6 generation of precursor metabolites and energy GO:0006091 9.49 GBE1 PHKA2
7 triglyceride metabolic process GO:0006641 9.48 G6PC LPL
8 glycogen biosynthetic process GO:0005978 9.46 AGL GBE1
9 phosphate-containing compound metabolic process GO:0006796 9.43 G6PC G6PC3
10 glucose 6-phosphate metabolic process GO:0051156 9.4 G6PC G6PC3
11 glucose-6-phosphate transport GO:0015760 9.33 G6PC G6PC3 SLC37A4
12 glycogen catabolic process GO:0005980 9.26 AGL G6PC PHKA2 PYGL
13 glycogen metabolic process GO:0005977 9.02 AGL G6PC GBE1 PHKA2 PYGL

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

id Name GO ID Score Top Affiliating Genes
1 transferase activity, transferring glycosyl groups GO:0016757 9.43 AGL GBE1 PYGL
2 carbohydrate binding GO:0030246 9.33 AGL GBE1 PYGL
3 phosphotransferase activity, alcohol group as acceptor GO:0016773 8.96 G6PC GALK1
4 glucose-6-phosphatase activity GO:0004346 8.62 G6PC G6PC3

Sources for Glycogen Storage Disease Ia

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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