MCID: GLY060
MIFTS: 57

Glycogen Storage Disease Ia

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

Aliases & Classifications for Glycogen Storage Disease Ia

MalaCards integrated aliases for Glycogen Storage Disease Ia:

Name: Glycogen Storage Disease Ia 53 71 13
Glycogen Storage Disease Type I 12 23 24 36 51 41 69
Von Gierke Disease 53 12 72 49 24 71
Hepatorenal Form of Glycogen Storage Disease 53 49 24 71
Hepatorenal Glycogenosis 53 49 24 71
Glucose-6-Phosphatase Deficiency 53 49 71
Glycogen Storage Disease Type 1a 49 55 28
Glycogen Storage Disease I 53 12 14
Glucose-6-Phosphate Transport Defect 24 69
Glycogen Storage Disease, Type I 12 28
Glycogen Storage Disease 1a 49 71
Von Gierke's Disease 12 24
Gsd1a 53 71
Gsd1 53 49
Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency Type Ia 55
Glycogenosis Due to Glucose-6-Phosphatase Deficiency Type 1a 55
Glycogenosis Due to Glucose-6-Phosphatase Deficiency Type Ia 55
Glucose-6-Phosphatase Deficiency Glycogen Storage Disease 49
Glycogen Storage Disease Due to G6p Deficiency Type Ia 55
Deficiency of Glucose-6-Phosphatase 12
Gsd Due to G6p Deficiency Type 1a 55
Gsd Due to G6p Deficiency Type Ia 55
Glycogen Storage Disease I; Gsd1 53
Glycogen Storage Disease Type Ia 69
Glucose-6-Phosphate Deficiency 24
G6p Deficiency Type 1a 55
Glycogenosis Type Ia 55
Glycogenosis Type I 12
Glycogenosis Type 1 49
Gsd Type 1a 55
Gsd Type I 24
Gsd Ia 53
Gsd-Ia 71
Gsd I 24
Gsdia 55

Characteristics:

Orphanet epidemiological data:

55
glycogen storage disease due to glucose-6-phosphatase deficiency type ia
Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal recessive

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


HPO:

31
glycogen storage disease ia:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Glycogen Storage Disease Ia

NIH Rare Diseases : 49 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 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 Glycolysis / Gluconeogenesis and Carbohydrate digestion and absorption. The drug Hypoglycemic Agents has been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and small intestine, and related phenotype is liver/biliary system.

OMIM : 53 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 : 71 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 : 24 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.

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.

Wikipedia : 72 Glycogen storage disease type I (GSD I) or von Gierke disease, is the most common of the glycogen... 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 17)
# Related Disease Score Top Affiliating Genes
1 glycogen storage disease 29.0 AGL G6PC GBE1 PHKA2 PYGL SLC37A4
2 fanconi-bickel syndrome 11.4
3 glycogen storage disease due to glucose-6-phosphatase deficiency 11.2
4 glycogen storage disease ib 11.2
5 glycogen storage disease ic 11.2
6 glycogen storage disease ixa1 11.0
7 hyperlipoproteinemia, type v 11.0
8 hepatitis 10.1
9 adenoma 10.0
10 fructose-1,6-bisphosphatase deficiency 9.7 AGL ALDOB G6PC
11 gilbert syndrome 9.6
12 choledocholithiasis 9.6
13 galactosemia 9.6 ALDOB G6PC GALK1
14 glycogen storage disease vi 9.5 G6PC PYGL
15 glycogen storage disease iii 9.3 AGL G6PC GBE1 PYGL
16 glycogen storage disease iv 9.2 AGL G6PC GBE1 PYGL
17 carbohydrate metabolic disorder 8.9 AGL ALDOB G6PC GALK1 GBE1 PHKA2

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 via clinical synopsis from OMIM:

53
Abdomen Gastroin testinal:
intermittent diarrhea

Abdomen Liver:
hepatomegaly
hepatocellular carcinoma
liver adenomas

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

Metabolic Features:
hypoglycemia

Abdomen External Features:
protuberant abdomen

Hematology:
bleeding diathesis

Head And Neck Eyes:
lipemia retinalis

Cardiovascular Vascular:
hypertension

Growth Height:
short stature

Growth Other:
delayed puberty

Muscle Soft Tissue:
decreased muscle mass

Abdomen Pancreas:
pancreatitis

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

Head And Neck Face:
'doll-like' facies

Skin Nails Hair Skin:
xanthoma


Clinical features from OMIM:

232200

Human phenotypes related to Glycogen Storage Disease Ia:

31 (show all 24)
# Description HPO Frequency HPO Source Accession
1 intermittent diarrhea 31 HP:0002254
2 hypertension 31 HP:0000822
3 hepatomegaly 31 HP:0002240
4 short stature 31 HP:0004322
5 proteinuria 31 HP:0000093
6 delayed puberty 31 HP:0000823
7 osteoporosis 31 HP:0000939
8 decreased muscle mass 31 HP:0003199
9 hypoglycemia 31 HP:0001943
10 abnormal bleeding 31 HP:0001892
11 elevated hepatic transaminases 31 HP:0002910
12 pancreatitis 31 HP:0001733
13 lactic acidosis 31 HP:0003128
14 hyperlipidemia 31 HP:0003077
15 nephrolithiasis 31 HP:0000787
16 gout 31 HP:0001997
17 enlarged kidney 31 HP:0000105
18 xanthelasma 31 HP:0001114
19 hepatocellular carcinoma 31 HP:0001402
20 protuberant abdomen 31 HP:0001538
21 focal segmental glomerulosclerosis 31 HP:0000097
22 decreased glomerular filtration rate 31 HP:0012213
23 lipemia retinalis 31 HP:0000660
24 doll-like facies 31 HP:0000295

UMLS symptoms related to Glycogen Storage Disease Ia:


intermittent diarrhea

MGI Mouse Phenotypes related to Glycogen Storage Disease Ia:

43
# 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):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hypoglycemic Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Diet Treatment Glucose Transporter Type 1 Deficiency (G1D) Not yet recruiting NCT03181399 Phase 2 Triheptanoin
2 Treatment Development of Triheptanoin (G1D) Recruiting NCT03041363 Phase 1 Triheptanoin
3 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
4 Overnight Feeding Study in Glycogen Storage Disease Type 1 Completed NCT01961076
5 Sleep and Quality of Life in Patients With Glycogen Storage Disease on Standard Versus Modified Uncooked Cornstarch Completed NCT02054832
6 Study of the Relationship Between Glycogen Storage Disease Type Ia and Inflammatory Bowel Disease Completed NCT01854242
7 Glycogen Storage Disease Breath Test Study Recruiting NCT03218904
8 Glycosade v UCCS in the Dietary Management of Hepatic GSD Recruiting NCT02318966
9 Biomarker for Glycogen Storage Diseases Recruiting NCT02385162
10 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 28 G6PC
2 Glycogen Storage Disease, Type I 28

Anatomical Context for Glycogen Storage Disease Ia

MalaCards organs/tissues related to Glycogen Storage Disease Ia:

38
Kidney, Liver, Small Intestine, Testes

Publications for Glycogen Storage Disease Ia

Articles related to Glycogen Storage Disease Ia:

(show top 50) (show all 67)
# Title Authors Year
1
Malignant transformation of hepatocellular adenoma with bone marrow metaplasia arising in glycogen storage disease type I: A case report. ( 27900094 )
2016
2
Progressive development of renal cysts in glycogen storage disease type I. ( 27436577 )
2016
3
Alternative nighttime nutrition regimens in glycogen storage disease type I: a controlled crossover study. ( 26109257 )
2015
4
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 )
2015
5
Glycogen Storage Disease Type I Presenting with Hypertension During Infancy. ( 25735438 )
2015
6
Muscle Ultrasound in Patients with Glycogen Storage Disease Types I and III. ( 26437929 )
2015
7
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
8
Progression of renal damage in glycogen storage disease type I is associated to hyperlipidemia: a multicenter prospective italian study. ( 25641239 )
2015
9
Safety and Efficacy of Chronic Extended Release Cornstarch Therapy for Glycogen Storage Disease Type I. ( 26303612 )
2015
10
Pregnancy in women with glycogen storage disease Ia and Ib. ( 24476649 )
2014
11
Regression of Hepatocellular Adenomas with Strict Dietary Therapy in Patients with Glycogen Storage Disease Type I. ( 25308557 )
2014
12
Continuous glucose monitoring in children with glycogen storage disease type I. ( 24149443 )
2014
13
Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics. ( 25356975 )
2014
14
Neonatal Glycogen Storage Disease Ia. ( 25182376 )
2014
15
Quality of Life in Adult Patients with Glycogen Storage Disease Type I: Results of a Multicenter Italian Study. ( 24363035 )
2013
16
Asymmetric dimethylarginine (ADMA) and L-arginine levels in children with glycogen storage disease type I. ( 23412857 )
2013
17
Molecular characterization of hepatocellular adenomas developed in patients with glycogen storage disease type I. ( 23046672 )
2013
18
Fertility and pregnancy in women affected by glycogen storage disease type I, results of a multicenter Italian study. ( 22562700 )
2013
19
Multiple hepatocellular adenomas in a patient with glycogen storage disease type I: various enhancement patterns in MRI with Gd-EOB-DTPA. ( 21416130 )
2012
20
A novel type heterozygous mutation in the glucose-6-phosphatase gene in a Chinese patient with glycogen storage disease Ia. ( 23000067 )
2012
21
Hypercalcemia in glycogen storage disease type I patients of Turkish origin. ( 22397040 )
2012
22
Dietary dilemmas in the management of glycogen storage disease type I. ( 21491105 )
2011
23
Hepatorenal correction in murine glycogen storage disease type I with a double-stranded adeno-associated virus vector. ( 21730973 )
2011
24
Natural history of hepatocellular adenoma formation in glycogen storage disease type I. ( 21481415 )
2011
25
Glycogen storage disease type I and G6Pase-I^ deficiency: etiology and therapy. ( 20975743 )
2010
26
Ischemic stroke in an adult with glycogen storage disease type I. ( 20699197 )
2010
27
Hypovitaminosis D in glycogen storage disease type I. ( 20060350 )
2010
28
Vascular dysfunction in glycogen storage disease type I. ( 19101686 )
2009
29
Emerging therapies for glycogen storage disease type I. ( 19541498 )
2009
30
Cell death and stress signaling in glycogen storage disease type I. ( 19756389 )
2009
31
A detailed characterization of the adult mouse model of glycogen storage disease Ia. ( 19581879 )
2009
32
Adiponectin levels correlate with the severity of hypertriglyceridaemia in glycogen storage disease Ia. ( 19267215 )
2009
33
Renal function in glycogen storage disease type I, natural course, and renopreservative effects of ACE inhibition. ( 19808227 )
2009
34
Bispectral index may not reflect the depth of anaesthesia in a patient with glycogen storage disease type I. ( 19749120 )
2009
35
Glycogen storage disease type I in Tunisia: an epidemiological analysis. ( 18679824 )
2008
36
Psychosocial functioning in youth with glycogen storage disease type I. ( 18296725 )
2008
37
Preemptive living donor liver transplantation in glycogen storage disease Ia: case report. ( 18929868 )
2008
38
Glycogen storage disease type I--between chronic ambulatory follow-up and pediatric emergency. ( 17410288 )
2007
39
Increased prevalence of thyroid autoimmunity and hypothyroidism in patients with glycogen storage disease type I. ( 17307551 )
2007
40
Glycogen storage disease types I and II: treatment updates. ( 17308886 )
2007
41
Advanced glycation end products and the absence of premature atherosclerosis in glycogen storage disease Ia. ( 17570077 )
2007
42
Combined liver-kidney transplantation in glycogen storage disease Ia: a case beyond the guidelines. ( 17457869 )
2007
43
Serum lipid and lipoprotein profile of patients with glycogen storage disease types I, III and IX. ( 17407002 )
2007
44
[Prenatal diagnosis of glycogen storage disease Ia by screening for hot spot mutations in combination with the 1176 nucleotide polymorphism linkage analysis]. ( 15696478 )
2005
45
Exercise capacity and biochemical profile during exercise in patients with glycogen storage disease type I. ( 15671110 )
2005
46
Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population. ( 15316959 )
2004
47
Bone mineral density and markers of bone turnover in patients with glycogen storage disease types I, III and IX. ( 14970741 )
2004
48
Brain damage in glycogen storage disease type I. ( 15127000 )
2004
49
Glycogen storage disease type I: pathophysiology of liver adenomas. ( 12373570 )
2002
50
Guidelines for management of glycogen storage disease type I - European Study on Glycogen Storage Disease Type I (ESGSD I). ( 12373584 )
2002

Variations for Glycogen Storage Disease Ia

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

71 (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
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 rs1057517008Glycogen
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 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
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)
# Gene Variation Type Significance SNP ID Assembly Location
1 G6PC NM_000151.3(G6PC): c.379_380dupTA (p.Tyr128Thrfs) duplication Pathogenic/Likely pathogenic rs80356488 GRCh37 Chromosome 17, 41059578: 41059579
2 G6PC NM_000151.3(G6PC): c.247C> T (p.Arg83Cys) single nucleotide variant Pathogenic rs1801175 GRCh37 Chromosome 17, 41055964: 41055964
3 G6PC NM_000151.3(G6PC): c.883C> T (p.Arg295Cys) single nucleotide variant Pathogenic/Likely pathogenic rs104894563 GRCh37 Chromosome 17, 41063252: 41063252
4 G6PC NM_000151.3(G6PC): c.1039C> T (p.Gln347Ter) single nucleotide variant Pathogenic rs80356487 GRCh37 Chromosome 17, 41063408: 41063408
5 G6PC NM_000151.3(G6PC): c.229T> C (p.Trp77Arg) single nucleotide variant Pathogenic/Likely pathogenic rs104894566 GRCh37 Chromosome 17, 41053122: 41053122
6 G6PC NM_000151.3(G6PC): c.230+4A> G single nucleotide variant Pathogenic rs587776757 GRCh37 Chromosome 17, 41053127: 41053127
7 G6PC NM_000151.3(G6PC): c.648G> T (p.Leu216=) single nucleotide variant Pathogenic/Likely pathogenic rs80356484 GRCh37 Chromosome 17, 41063017: 41063017
8 G6PC NM_000151.3(G6PC): c.113A> T (p.Asp38Val) single nucleotide variant Pathogenic rs104894565 GRCh37 Chromosome 17, 41053006: 41053006
9 G6PC NM_000151.3(G6PC): c.328G> A (p.Glu110Lys) single nucleotide variant Pathogenic rs104894567 GRCh37 Chromosome 17, 41056045: 41056045
10 G6PC NM_000151.3(G6PC): c.370G> A (p.Ala124Thr) single nucleotide variant Pathogenic rs104894568 GRCh37 Chromosome 17, 41059569: 41059569
11 G6PC NM_000151.3(G6PC): c.551G> A (p.Gly184Glu) single nucleotide variant Pathogenic rs104894569 GRCh37 Chromosome 17, 41061424: 41061424
12 G6PC NM_000151.3(G6PC): c.562G> C (p.Gly188Arg) single nucleotide variant Pathogenic rs80356482 GRCh37 Chromosome 17, 41061435: 41061435
13 G6PC NM_000151.3(G6PC): c.248G> A (p.Arg83His) single nucleotide variant Pathogenic rs1801176 GRCh37 Chromosome 17, 41055965: 41055965
14 G6PC NM_000151.3(G6PC): c.497T> G (p.Val166Gly) single nucleotide variant Pathogenic rs104894571 GRCh37 Chromosome 17, 41061370: 41061370
15 G6PC NM_000151.3(G6PC): c.724C> T (p.Gln242Ter) single nucleotide variant Pathogenic/Likely pathogenic rs80356485 GRCh37 Chromosome 17, 41063093: 41063093
16 G6PC NM_000151.3(G6PC): c.79delC (p.Gln27Argfs) deletion Pathogenic rs80356479 GRCh37 Chromosome 17, 41052972: 41052972
17 G6PC NM_000151.3(G6PC): c.809G> T (p.Gly270Val) single nucleotide variant Pathogenic/Likely pathogenic rs80356483 GRCh37 Chromosome 17, 41063178: 41063178
18 G6PC NM_000151.3(G6PC): c.1022T> A (p.Ile341Asn) single nucleotide variant Pathogenic rs387906505 GRCh37 Chromosome 17, 41063391: 41063391
19 SLC37A4 NM_001164277.1(SLC37A4): c.742C> T (p.Gln248Ter) single nucleotide variant Pathogenic/Likely pathogenic rs781784543 GRCh38 Chromosome 11, 119026979: 119026979
20 G6PC NM_000151.3(G6PC): c.189G> A (p.Trp63Ter) single nucleotide variant Likely pathogenic rs764920787 GRCh37 Chromosome 17, 41053082: 41053082
21 G6PC NM_000151.3(G6PC): c.969C> A (p.Tyr323Ter) single nucleotide variant Pathogenic/Likely pathogenic rs780226142 GRCh37 Chromosome 17, 41063338: 41063338
22 G6PC NM_000151.3(G6PC): c.1012G> T (p.Val338Phe) single nucleotide variant Likely pathogenic rs367727229 GRCh37 Chromosome 17, 41063381: 41063381
23 SLC37A4 NM_001164277.1(SLC37A4): c.1015G> T (p.Gly339Cys) single nucleotide variant Pathogenic rs80356490 GRCh37 Chromosome 11, 118896009: 118896009
24 SLC37A4 NM_001164277.1(SLC37A4): c.1063G> T (p.Glu355Ter) single nucleotide variant Pathogenic rs121908975 GRCh37 Chromosome 11, 118895961: 118895961
25 SLC37A4 NM_001164277.1(SLC37A4): c.352T> C (p.Trp118Arg) single nucleotide variant Pathogenic rs80356489 GRCh37 Chromosome 11, 118898933: 118898933
26 SLC37A4 SLC37A4, 4-BP DEL, 2-BP INS, NT1094 indel Pathogenic
27 SLC37A4 SLC37A4, 170-BP DEL, NT148 deletion Pathogenic
28 SLC37A4 NM_001467.5(SLC37A4): c.1042_1043delCT (p.Leu348Valfs) deletion Pathogenic rs80356491 GRCh37 Chromosome 11, 118895981: 118895982
29 SLC37A4 NM_001164277.1(SLC37A4): c.287G> A (p.Trp96Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121908976 GRCh37 Chromosome 11, 118898998: 118898998
30 SLC37A4 SLC37A4, 12-BP INS, NT1103 insertion Pathogenic
31 SLC37A4 NM_001164277.1(SLC37A4): c.703_705delGTG (p.Val236del) deletion Pathogenic rs121908977 GRCh37 Chromosome 11, 118897726: 118897728
32 SLC37A4 SLC37A4, IVS7, G-T, +1 single nucleotide variant Pathogenic
33 SLC37A4 SLC37A4, IVS1, G-A, +1 single nucleotide variant Pathogenic
34 SLC37A4 NM_001164277.1(SLC37A4): c.83G> A (p.Arg28His) single nucleotide variant Pathogenic rs121908978 GRCh37 Chromosome 11, 118899997: 118899997
35 SLC37A4 NM_001164277.1(SLC37A4): c.1243C> T (p.Arg415Ter) single nucleotide variant Pathogenic rs121908979 GRCh37 Chromosome 11, 118895667: 118895667
36 SLC37A4 NM_001164277.1(SLC37A4): c.1016G> A (p.Gly339Asp) single nucleotide variant Pathogenic rs121908980 GRCh37 Chromosome 11, 118896008: 118896008
37 SLC37A4 SLC37A4, 794G-A single nucleotide variant Pathogenic
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 GRCh37 Chromosome 17, 41053054: 41053054
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 GRCh37 Chromosome 17, 41063167: 41063167
44 G6PC NM_000151.3(G6PC): c.858delG (p.Lys287Asnfs) deletion Likely pathogenic rs1057516858 GRCh38 Chromosome 17, 42911210: 42911210
45 G6PC NM_000151.3(G6PC): c.980_982delTCT (p.Phe327del) deletion Pathogenic/Likely pathogenic rs80356486 GRCh37 Chromosome 17, 41063349: 41063351
46 G6PC NM_000151.3(G6PC): c.551G> T (p.Gly184Val) single nucleotide variant Pathogenic rs104894569 GRCh37 Chromosome 17, 41061424: 41061424

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:

36
# Name Kegg Source Accession
1 Glycolysis / Gluconeogenesis hsa00010
2 Carbohydrate digestion and absorption hsa04973

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.61 AGL ALDOB G6PC GALK1 GBE1 LPL
2
Show member pathways
12.08 AGL ALDOB G6PC GBE1 PHKA2 PYGL
3
Show member pathways
11.98 AGL ALDOB G6PC GALK1 GBE1 PHKA2
4
Show member pathways
11.64 AGL G6PC GALK1 GBE1 PYGL
5 11.56 G6PC PHKA2 PYGL
6 11.11 AGL GBE1 PHKA2 PYGL
7 11.08 G6PC SLC37A4
8 11.05 ALDOB G6PC

GO Terms for Glycogen Storage Disease Ia

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.62 GALK1 GBE1 PHKA2 PYGL
2 glucose homeostasis GO:0042593 9.61 G6PC PYGL SLC37A4
3 cholesterol homeostasis GO:0042632 9.54 G6PC LPL SLC37A4
4 response to nutrient GO:0007584 9.51 AGL SLC37A4
5 response to glucose GO:0009749 9.49 LPL SLC37A4
6 generation of precursor metabolites and energy GO:0006091 9.48 GBE1 PHKA2
7 glycogen biosynthetic process GO:0005978 9.46 AGL GBE1
8 gluconeogenesis GO:0006094 9.43 ALDOB G6PC SLC37A4
9 glucose-6-phosphate transport GO:0015760 9.4 G6PC SLC37A4
10 triglyceride metabolic process GO:0006641 9.33 G6PC LPL SLC37A4
11 glycogen catabolic process GO:0005980 9.26 AGL G6PC PHKA2 PYGL
12 glycogen metabolic process GO:0005977 9.1 AGL G6PC GBE1 PHKA2 PYGL SLC37A4

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

# Name GO ID Score Top Affiliating Genes
1 transferase activity, transferring glycosyl groups GO:0016757 9.33 AGL GBE1 PYGL
2 carbohydrate binding GO:0030246 9.13 AGL GBE1 PYGL
3 phosphotransferase activity, alcohol group as acceptor GO:0016773 8.62 G6PC GALK1

Sources for Glycogen Storage Disease Ia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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