GSD1A
MCID: GLY060
MIFTS: 50

Glycogen Storage Disease Ia (GSD1A)

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

Aliases & Classifications for Glycogen Storage Disease Ia

MalaCards integrated aliases for Glycogen Storage Disease Ia:

Name: Glycogen Storage Disease Ia 58 76 13
Glycogen Storage Disease Type I 12 25 26 38 56 45 74
Von Gierke Disease 58 12 77 54 26 76
Hepatorenal Form of Glycogen Storage Disease 58 54 26 76
Glycogen Storage Disease Type 1a 54 60 30 6
Hepatorenal Glycogenosis 58 54 26 76
Glucose-6-Phosphatase Deficiency 58 54 76
Glycogen Storage Disease, Type I 12 30 6
Glycogen Storage Disease I 58 12 15
Glucose-6-Phosphate Transport Defect 26 74
Glycogen Storage Disease 1a 54 76
Von Gierke's Disease 12 26
Gsd1a 58 76
Gsd1 58 54
Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency Type Ia 60
Glycogenosis Due to Glucose-6-Phosphatase Deficiency Type 1a 60
Glycogenosis Due to Glucose-6-Phosphatase Deficiency Type Ia 60
Glucose-6-Phosphatase Deficiency Glycogen Storage Disease 54
Glycogen Storage Disease Due to G6p Deficiency Type Ia 60
Deficiency of Glucose-6-Phosphatase 12
Storage Disease, Glycogen, Type 1a 41
Gsd Due to G6p Deficiency Type 1a 60
Gsd Due to G6p Deficiency Type Ia 60
Glycogen Storage Disease I; Gsd1 58
Glycogen Storage Disease Type Ia 74
Glucose-6-Phosphate Deficiency 26
G6p Deficiency Type 1a 60
Glycogenosis Type Ia 60
Glycogenosis Type I 12
Glycogenosis Type 1 54
Gsd Type 1a 60
Gsd Type I 26
Gsd Ia 58
Gsd-Ia 76
Gsd I 26
Gsdia 60

Characteristics:

Orphanet epidemiological data:

60
glycogen storage disease due to glucose-6-phosphatase deficiency type ia
Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
often diagnosed between ages 3-4 months
early diagnosis and treatment prevent many complications


HPO:

33
glycogen storage disease ia:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Glycogen Storage Disease Ia

NIH Rare Diseases : 54 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. 

MalaCards based summary : Glycogen Storage Disease Ia, also known as glycogen storage disease type i, is related to fanconi-bickel syndrome and glycogen storage disease ib, and has symptoms including intermittent diarrhea An important gene associated with Glycogen Storage Disease Ia is G6PC (Glucose-6-Phosphatase Catalytic Subunit), and among its related pathways/superpathways are Glycolysis / Gluconeogenesis and Carbohydrate digestion and absorption. The drugs Pharmaceutical Solutions and Hypoglycemic Agents have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and small intestine, and related phenotypes are hypertension and hepatomegaly

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.

Genetics Home Reference : 26 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 : 58 Glycogen storage disease type I, also known as von Gierke disease, typically manifests during the first year of life with severe hypoglycemia and hepatomegaly caused by the accumulation of glycogen. Affected individuals exhibit growth retardation, delayed puberty, lactic acidemia, hyperlipidemia, hyperuricemia, and in adults a high incidence of hepatic adenomas (summary by Lei et al., 1993). (232200)

UniProtKB/Swiss-Prot : 76 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.

Wikipedia : 77 Glycogen storage disease type I (GSD I) , is the most common of the glycogen storage diseases. This... more...

GeneReviews: NBK1312

Related Diseases for Glycogen Storage Disease Ia

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 Ia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 43)
# Related Disease Score Top Affiliating Genes
1 fanconi-bickel syndrome 11.9
2 glycogen storage disease ib 11.8
3 g6pc3 deficiency 11.7
4 glycogen storage disease due to glucose-6-phosphatase deficiency 11.4
5 glycogen storage disease ic 11.3
6 glycogen storage disease v 11.3
7 malaria 11.2
8 hyperlipoproteinemia, type v 11.2
9 glycogen storage disease ixa1 11.2
10 glycogen storage disease 10.7
11 hepatic adenomas, familial 10.3
12 hyperuricemia 10.3
13 pulmonary hypertension 10.2
14 hepatocellular adenoma 10.2
15 hypoglycemia 10.2
16 osteoporosis 10.2
17 status epilepticus 10.2
18 hepatocellular carcinoma 10.1
19 xanthomatosis 10.1
20 gastric cancer 10.1
21 arthritis 10.1
22 gout 10.1
23 fructose-1,6-bisphosphatase deficiency 10.1
24 moyamoya disease 1 10.1
25 sickle cell anemia 10.1
26 acute pancreatitis 10.1
27 adenoma 10.1
28 piebald trait 10.1
29 pyruvate carboxylase deficiency 10.0
30 neutropenia 10.0
31 inflammatory bowel disease 10.0
32 fanconi syndrome 10.0
33 hypothyroidism 10.0
34 pancreatitis 10.0
35 hypopituitarism 10.0
36 kidney disease 10.0
37 fatty liver disease 9.9
38 diabetes mellitus 9.9
39 gilbert syndrome 9.8
40 hepatitis 9.8
41 choledocholithiasis 9.8
42 hepatitis a 9.8
43 hemoglobin e disease 9.8

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

Human phenotypes related to Glycogen Storage Disease Ia:

33 (show all 26)
# Description HPO Frequency HPO Source Accession
1 hypertension 33 HP:0000822
2 hepatomegaly 33 HP:0002240
3 short stature 33 HP:0004322
4 proteinuria 33 HP:0000093
5 delayed puberty 33 HP:0000823
6 osteoporosis 33 HP:0000939
7 decreased muscle mass 33 HP:0003199
8 hypoglycemia 33 HP:0001943
9 hyperuricemia 33 HP:0002149
10 abnormal bleeding 33 HP:0001892
11 elevated hepatic transaminase 33 HP:0002910
12 pancreatitis 33 HP:0001733
13 lactic acidosis 33 HP:0003128
14 hyperlipidemia 33 HP:0003077
15 nephrolithiasis 33 HP:0000787
16 gout 33 HP:0001997
17 enlarged kidney 33 HP:0000105
18 xanthomatosis 33 HP:0000991
19 xanthelasma 33 HP:0001114
20 hepatocellular carcinoma 33 HP:0001402
21 focal segmental glomerulosclerosis 33 HP:0000097
22 protuberant abdomen 33 HP:0001538
23 intermittent diarrhea 33 HP:0002254
24 decreased glomerular filtration rate 33 HP:0012213
25 lipemia retinalis 33 HP:0000660
26 doll-like facies 33 HP:0000295

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Vascular:
hypertension

Growth Height:
short stature

Growth Other:
delayed puberty

Muscle Soft Tissue:
decreased muscle mass

Abdomen Pancreas:
pancreatitis

Abdomen External Features:
protuberant abdomen

Hematology:
bleeding diathesis

Head And Neck Eyes:
lipemia retinalis

Abdomen Liver:
hepatomegaly
hepatocellular carcinoma
liver adenomas

Laboratory Abnormalities:
proteinuria
hypoglycemia
hyperuricemia
lactic acidosis
hyperlipidemia
more
Skeletal:
osteoporosis
gouty arthritis

Metabolic Features:
hypoglycemia

Genitourinary Kidneys:
focal segmental glomerulosclerosis
renal stones
reduced creatinine clearance
renal enlargement

Abdomen Gastrointestinal:
intermittent diarrhea

Head And Neck Face:
'doll-like' facies

Skin Nails Hair Skin:
xanthoma

Clinical features from OMIM:

232200

UMLS symptoms related to Glycogen Storage Disease Ia:


intermittent diarrhea

Drugs & Therapeutics for Glycogen Storage Disease Ia

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Phase 1, Phase 2
2 Hypoglycemic Agents

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 Safety and Dose-Finding Study of DTX401 (AAV8G6PC) in Adults With Glycogen Storage Disease Type Ia (GSDIa) Recruiting NCT03517085 Phase 1, Phase 2
2 Diet Treatment Glucose Transporter Type 1 Deficiency (G1D) Recruiting NCT03181399 Phase 2 Triheptanoin
3 Treatment Development of Triheptanoin (G1D) Active, not recruiting NCT03041363 Phase 1 Triheptanoin
4 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 Completed NCT02176096 Not Applicable
5 Overnight Feeding Study in Glycogen Storage Disease Type 1 Completed NCT01961076 Not Applicable
6 Sleep and Quality of Life in Patients With Glycogen Storage Disease on Standard Versus Modified Uncooked Cornstarch Completed NCT02054832
7 Study of the Relationship Between Glycogen Storage Disease Type Ia and Inflammatory Bowel Disease Completed NCT01854242
8 Glycogen Storage Disease Breath Test Study Recruiting NCT03218904 Not Applicable
9 The Use of Uncooked Sweet Polvilho to Treat Hepatic Glycogen Storage Diseases Recruiting NCT03871673 Not Applicable
10 Glycosade v UCCS in the Dietary Management of Hepatic GSD Recruiting NCT02318966 Not Applicable
11 Biomarker for Glycogen Storage Diseases (BioGlycogen) Recruiting NCT02385162
12 Anaplerotic Therapy Using Triheptanoin for Patients With Glycogen Storage Disease Type I Not yet recruiting NCT03665636 Early Phase 1 Triheptanoin
13 Clinical Evaluation of a Non-Invasive Hypoglycemia Detector in a Glycogen Storage Disease Population Terminated NCT02338817

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:

# Genetic test Affiliating Genes
1 Glycogen Storage Disease Type 1a 30 G6PC
2 Glycogen Storage Disease, Type I 30

Anatomical Context for Glycogen Storage Disease Ia

MalaCards organs/tissues related to Glycogen Storage Disease Ia:

42
Kidney, Liver, Small Intestine, Bone, Testes, Brain, Bone Marrow

Publications for Glycogen Storage Disease Ia

Articles related to Glycogen Storage Disease Ia:

(show top 50) (show all 128)
# Title Authors Year
1
Glycemic control and complications in glycogen storage disease type I: Results from the Swiss registry. ( 30846352 )
2019
2
Molecular diagnosis of glycogen storage disease type I: a review. ( 30956637 )
2019
3
Polycystic kidney features of the renal pathology in glycogen storage disease type I: possible evolution to renal neoplasia. ( 29869165 )
2018
4
Disturbed sphingolipid metabolism with elevated 1-deoxysphingolipids in glycogen storage disease type I - A link to metabolic control. ( 30037504 )
2018
5
Malignant transformation of hepatocellular adenoma with bone marrow metaplasia arising in glycogen storage disease type I: A case report. ( 27900094 )
2016
6
Progressive development of renal cysts in glycogen storage disease type I. ( 27436577 )
2016
7
Safety and Efficacy of Chronic Extended Release Cornstarch Therapy for Glycogen Storage Disease Type I. ( 26303612 )
2016
8
Reappraisal of the Role of Portacaval Shunting in the Growth of Patients With Glycogen Storage Disease Type I in the Era of Liver Transplantation. ( 26360666 )
2016
9
Neonatal glycogen storage disease Ia. ( 25182376 )
2015
10
Regression of hepatocellular adenomas with strict dietary therapy in patients with glycogen storage disease type I. ( 25308557 )
2015
11
Progression of renal damage in glycogen storage disease type I is associated to hyperlipidemia: a multicenter prospective Italian study. ( 25641239 )
2015
12
Glycogen Storage Disease Type I Presenting with Hypertension During Infancy. ( 25735438 )
2015
13
A pilot longitudinal study of the use of waxy maize heat modified starch in the treatment of adults with glycogen storage disease type I: a randomized double-blind cross-over study. ( 25758258 )
2015
14
Alternative nighttime nutrition regimens in glycogen storage disease type I: a controlled crossover study. ( 26109257 )
2015
15
Continuous glucose monitoring in children with glycogen storage disease type I. ( 24149443 )
2014
16
Quality of life in adult patients with glycogen storage disease type I: results of a multicenter italian study. ( 24363035 )
2014
17
Pregnancy in women with glycogen storage disease Ia and Ib. ( 24476649 )
2014
18
Liver transplantation in glycogen storage disease type I. ( 24716823 )
2014
19
Glycogen storage disease type I: clinical and laboratory profile. ( 25019649 )
2014
20
Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics. ( 25356975 )
2014
21
Fertility and pregnancy in women affected by glycogen storage disease type I, results of a multicenter Italian study. ( 22562700 )
2013
22
Molecular characterization of hepatocellular adenomas developed in patients with glycogen storage disease type I. ( 23046672 )
2013
23
Asymmetric dimethylarginine (ADMA) and L-arginine levels in children with glycogen storage disease type I. ( 23412857 )
2013
24
Multiple hepatocellular adenomas in a patient with glycogen storage disease type I: various enhancement patterns in MRI with Gd-EOB-DTPA. ( 21416130 )
2012
25
Hypercalcemia in glycogen storage disease type I patients of Turkish origin. ( 22397040 )
2012
26
A novel type heterozygous mutation in the glucose-6-phosphatase gene in a Chinese patient with glycogen storage disease Ia. ( 23000067 )
2012
27
Natural history of hepatocellular adenoma formation in glycogen storage disease type I. ( 21481415 )
2011
28
Dietary dilemmas in the management of glycogen storage disease type I. ( 21491105 )
2011
29
Hepatorenal correction in murine glycogen storage disease type I with a double-stranded adeno-associated virus vector. ( 21730973 )
2011
30
[Cardiovascular risk profile of patients with glycogen storage disease type I]. ( 21924075 )
2011
31
Ischemic stroke in an adult with glycogen storage disease type I. ( 20699197 )
2010
32
Glycogen storage disease type I and G6Pase-β deficiency: etiology and therapy. ( 20975743 )
2010
33
Hypovitaminosis D in glycogen storage disease type I. ( 20060350 )
2010
34
Vascular dysfunction in glycogen storage disease type I. ( 19101686 )
2009
35
Adiponectin levels correlate with the severity of hypertriglyceridaemia in glycogen storage disease Ia. ( 19267215 )
2009
36
Emerging therapies for glycogen storage disease type I. ( 19541498 )
2009
37
A detailed characterization of the adult mouse model of glycogen storage disease Ia. ( 19581879 )
2009
38
Bispectral index may not reflect the depth of anaesthesia in a patient with glycogen storage disease type I. ( 19749120 )
2009
39
Cell death and stress signaling in glycogen storage disease type I. ( 19756389 )
2009
40
Renal function in glycogen storage disease type I, natural course, and renopreservative effects of ACE inhibition. ( 19808227 )
2009
41
Psychosocial functioning in youth with glycogen storage disease type I. ( 18296725 )
2008
42
Glycogen storage disease type I in Tunisia: an epidemiological analysis. ( 18679824 )
2008
43
Preemptive living donor liver transplantation in glycogen storage disease Ia: case report. ( 18929868 )
2008
44
Increased prevalence of thyroid autoimmunity and hypothyroidism in patients with glycogen storage disease type I. ( 17307551 )
2007
45
Glycogen storage disease type I--between chronic ambulatory follow-up and pediatric emergency. ( 17410288 )
2007
46
Combined liver-kidney transplantation in glycogen storage disease Ia: a case beyond the guidelines. ( 17457869 )
2007
47
Advanced glycation end products and the absence of premature atherosclerosis in glycogen storage disease Ia. ( 17570077 )
2007
48
Exercise capacity and biochemical profile during exercise in patients with glycogen storage disease type I. ( 15671110 )
2005
49
[Prenatal diagnosis of glycogen storage disease Ia by screening for hot spot mutations in combination with the 1176 nucleotide polymorphism linkage analysis]. ( 15696478 )
2005
50
Brain damage in glycogen storage disease type I. ( 15127000 )
2004

Variations for Glycogen Storage Disease Ia

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

76 (show top 50) (show all 54)
# 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 rs141039273
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 rs105751700
20 G6PC p.Gly81Arg VAR_009204 rs756632286
21 G6PC p.Thr108Ile VAR_009205
22 G6PC p.Trp156Leu VAR_009206 rs118963073
23 G6PC p.Gly188Asp VAR_009207 rs760981149
24 G6PC p.Met5Arg VAR_046249 rs125017281
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 rs120316775
32 G6PC p.Pro113Leu VAR_046257
33 G6PC p.His119Leu VAR_046258 rs140192868
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 rs763543607
39 G6PC p.His179Pro VAR_046264
40 G6PC p.Gly184Val VAR_046265 rs104894569
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 rs127280348
49 G6PC p.Gly270Trp VAR_046275
50 G6PC p.Ser298Pro VAR_046276 rs770003650

ClinVar genetic disease variations for Glycogen Storage Disease Ia:

6 (show top 50) (show all 306)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC37A4 NM_001467.5(SLC37A4): c.1042_1043delCT (p.Leu348Valfs) deletion Pathogenic/Likely pathogenic rs80356491 GRCh37 Chromosome 11, 118895981: 118895982
2 SLC37A4 NM_001467.5(SLC37A4): c.1042_1043delCT (p.Leu348Valfs) deletion Pathogenic/Likely pathogenic rs80356491 GRCh38 Chromosome 11, 119025271: 119025272
3 G6PC NM_000151.3(G6PC): c.379_380dupTA (p.Tyr128Thrfs) duplication Pathogenic/Likely pathogenic rs80356488 GRCh37 Chromosome 17, 41059578: 41059579
4 G6PC NM_000151.3(G6PC): c.379_380dupTA (p.Tyr128Thrfs) duplication Pathogenic/Likely pathogenic rs80356488 GRCh38 Chromosome 17, 42907561: 42907562
5 G6PC NM_000151.3(G6PC): c.247C> T (p.Arg83Cys) single nucleotide variant Pathogenic rs1801175 GRCh37 Chromosome 17, 41055964: 41055964
6 G6PC NM_000151.3(G6PC): c.247C> T (p.Arg83Cys) single nucleotide variant Pathogenic rs1801175 GRCh38 Chromosome 17, 42903947: 42903947
7 G6PC NM_000151.3(G6PC): c.883C> T (p.Arg295Cys) single nucleotide variant Pathogenic/Likely pathogenic rs104894563 GRCh37 Chromosome 17, 41063252: 41063252
8 G6PC NM_000151.3(G6PC): c.883C> T (p.Arg295Cys) single nucleotide variant Pathogenic/Likely pathogenic rs104894563 GRCh38 Chromosome 17, 42911235: 42911235
9 G6PC NM_000151.3(G6PC): c.1039C> T (p.Gln347Ter) single nucleotide variant Pathogenic rs80356487 GRCh37 Chromosome 17, 41063408: 41063408
10 G6PC NM_000151.3(G6PC): c.1039C> T (p.Gln347Ter) single nucleotide variant Pathogenic rs80356487 GRCh38 Chromosome 17, 42911391: 42911391
11 G6PC NM_000151.3(G6PC): c.229T> C (p.Trp77Arg) single nucleotide variant Likely pathogenic rs104894566 GRCh37 Chromosome 17, 41053122: 41053122
12 G6PC NM_000151.3(G6PC): c.229T> C (p.Trp77Arg) single nucleotide variant Likely pathogenic rs104894566 GRCh38 Chromosome 17, 42901105: 42901105
13 G6PC NM_000151.3(G6PC): c.230+4A> G single nucleotide variant Pathogenic rs587776757 GRCh37 Chromosome 17, 41053127: 41053127
14 G6PC NM_000151.3(G6PC): c.230+4A> G single nucleotide variant Pathogenic rs587776757 GRCh38 Chromosome 17, 42901110: 42901110
15 G6PC NM_000151.3(G6PC): c.648G> T (p.Leu216=) single nucleotide variant Pathogenic/Likely pathogenic rs80356484 GRCh37 Chromosome 17, 41063017: 41063017
16 G6PC NM_000151.3(G6PC): c.648G> T (p.Leu216=) single nucleotide variant Pathogenic/Likely pathogenic rs80356484 GRCh38 Chromosome 17, 42911000: 42911000
17 G6PC NM_000151.3(G6PC): c.113A> T (p.Asp38Val) single nucleotide variant Pathogenic rs104894565 GRCh37 Chromosome 17, 41053006: 41053006
18 G6PC NM_000151.3(G6PC): c.113A> T (p.Asp38Val) single nucleotide variant Pathogenic rs104894565 GRCh38 Chromosome 17, 42900989: 42900989
19 G6PC NM_000151.3(G6PC): c.328G> A (p.Glu110Lys) single nucleotide variant Likely pathogenic rs104894567 GRCh37 Chromosome 17, 41056045: 41056045
20 G6PC NM_000151.3(G6PC): c.328G> A (p.Glu110Lys) single nucleotide variant Likely pathogenic rs104894567 GRCh38 Chromosome 17, 42904028: 42904028
21 G6PC NM_000151.3(G6PC): c.370G> A (p.Ala124Thr) single nucleotide variant Pathogenic rs104894568 GRCh37 Chromosome 17, 41059569: 41059569
22 G6PC NM_000151.3(G6PC): c.370G> A (p.Ala124Thr) single nucleotide variant Pathogenic rs104894568 GRCh38 Chromosome 17, 42907552: 42907552
23 G6PC NM_000151.3(G6PC): c.551G> A (p.Gly184Glu) single nucleotide variant Pathogenic rs104894569 GRCh37 Chromosome 17, 41061424: 41061424
24 G6PC NM_000151.3(G6PC): c.551G> A (p.Gly184Glu) single nucleotide variant Pathogenic rs104894569 GRCh38 Chromosome 17, 42909407: 42909407
25 G6PC NM_000151.3(G6PC): c.562G> C (p.Gly188Arg) single nucleotide variant Pathogenic rs80356482 GRCh37 Chromosome 17, 41061435: 41061435
26 G6PC NM_000151.3(G6PC): c.562G> C (p.Gly188Arg) single nucleotide variant Pathogenic rs80356482 GRCh38 Chromosome 17, 42909418: 42909418
27 G6PC NM_000151.3(G6PC): c.248G> A (p.Arg83His) single nucleotide variant Pathogenic rs1801176 GRCh37 Chromosome 17, 41055965: 41055965
28 G6PC NM_000151.3(G6PC): c.248G> A (p.Arg83His) single nucleotide variant Pathogenic rs1801176 GRCh38 Chromosome 17, 42903948: 42903948
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.497T> G (p.Val166Gly) single nucleotide variant Pathogenic rs104894571 GRCh38 Chromosome 17, 42909353: 42909353
31 G6PC NM_000151.3(G6PC): c.724C> T (p.Gln242Ter) single nucleotide variant Likely pathogenic rs80356485 GRCh37 Chromosome 17, 41063093: 41063093
32 G6PC NM_000151.3(G6PC): c.724C> T (p.Gln242Ter) single nucleotide variant Likely pathogenic rs80356485 GRCh38 Chromosome 17, 42911076: 42911076
33 G6PC NM_000151.3(G6PC): c.79delC (p.Gln27Argfs) deletion Pathogenic rs80356479 GRCh37 Chromosome 17, 41052972: 41052972
34 G6PC NM_000151.3(G6PC): c.79delC (p.Gln27Argfs) deletion Pathogenic rs80356479 GRCh38 Chromosome 17, 42900955: 42900955
35 G6PC NM_000151.3(G6PC): c.809G> T (p.Gly270Val) single nucleotide variant Pathogenic/Likely pathogenic rs80356483 GRCh37 Chromosome 17, 41063178: 41063178
36 G6PC NM_000151.3(G6PC): c.809G> T (p.Gly270Val) single nucleotide variant Pathogenic/Likely pathogenic rs80356483 GRCh38 Chromosome 17, 42911161: 42911161
37 G6PC NM_000151.3(G6PC): c.1022T> A (p.Ile341Asn) single nucleotide variant Pathogenic rs387906505 GRCh37 Chromosome 17, 41063391: 41063391
38 G6PC NM_000151.3(G6PC): c.1022T> A (p.Ile341Asn) single nucleotide variant Pathogenic rs387906505 GRCh38 Chromosome 17, 42911374: 42911374
39 SLC37A4 NM_001164277.1(SLC37A4): c.81T> A (p.Asn27Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs193302889 GRCh37 Chromosome 11, 118899999: 118899999
40 SLC37A4 NM_001164277.1(SLC37A4): c.81T> A (p.Asn27Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs193302889 GRCh38 Chromosome 11, 119029289: 119029289
41 G6PC NM_000151.3(G6PC): c.-45G> A single nucleotide variant Conflicting interpretations of pathogenicity rs367816430 GRCh37 Chromosome 17, 41052849: 41052849
42 G6PC NM_000151.3(G6PC): c.-45G> A single nucleotide variant Conflicting interpretations of pathogenicity rs367816430 GRCh38 Chromosome 17, 42900832: 42900832
43 SLC37A4 NM_001164277.1(SLC37A4): c.149-14A> G single nucleotide variant Benign/Likely benign rs79849261 GRCh38 Chromosome 11, 119028440: 119028440
44 SLC37A4 NM_001164277.1(SLC37A4): c.149-14A> G single nucleotide variant Benign/Likely benign rs79849261 GRCh37 Chromosome 11, 118899150: 118899150
45 SLC37A4 NM_001164277.1(SLC37A4): c.183T> C (p.Ala61=) single nucleotide variant Benign/Likely benign rs34123220 GRCh38 Chromosome 11, 119028392: 119028392
46 SLC37A4 NM_001164277.1(SLC37A4): c.183T> C (p.Ala61=) single nucleotide variant Benign/Likely benign rs34123220 GRCh37 Chromosome 11, 118899102: 118899102
47 SLC37A4 NM_001164277.1(SLC37A4): c.-516G> A single nucleotide variant Benign rs3759012 GRCh38 Chromosome 11, 119030552: 119030552
48 SLC37A4 NM_001164277.1(SLC37A4): c.-516G> A single nucleotide variant Benign rs3759012 GRCh37 Chromosome 11, 118901262: 118901262
49 G6PC NM_000151.3(G6PC): c.665G> A (p.Gly222Glu) single nucleotide variant not provided rs515726229 GRCh37 Chromosome 17, 41063034: 41063034
50 G6PC NM_000151.3(G6PC): c.665G> A (p.Gly222Glu) single nucleotide variant not provided rs515726229 GRCh38 Chromosome 17, 42911017: 42911017

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 KEGG:

38
# Name Kegg Source Accession
1 Glycolysis / Gluconeogenesis hsa00010
2 Carbohydrate digestion and absorption hsa04973

GO Terms for Glycogen Storage Disease Ia

Sources for Glycogen Storage Disease Ia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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