GSD1A
MCID: GLY060
MIFTS: 61

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 57 75 13
Glycogen Storage Disease Type I 12 24 25 37 55 44 73
Von Gierke Disease 57 12 76 53 25 75
Hepatorenal Form of Glycogen Storage Disease 57 53 25 75
Glycogen Storage Disease Type 1a 53 59 29 6
Hepatorenal Glycogenosis 57 53 25 75
Glucose-6-Phosphatase Deficiency 57 53 75
Glycogen Storage Disease, Type I 12 29 6
Glycogen Storage Disease I 57 12 15
Glucose-6-Phosphate Transport Defect 25 73
Glycogen Storage Disease 1a 53 75
Von Gierke's Disease 12 25
Gsd1a 57 75
Gsd1 57 53
Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency Type Ia 59
Glycogenosis Due to Glucose-6-Phosphatase Deficiency Type 1a 59
Glycogenosis Due to Glucose-6-Phosphatase Deficiency Type Ia 59
Glucose-6-Phosphatase Deficiency Glycogen Storage Disease 53
Glycogen Storage Disease Due to G6p Deficiency Type Ia 59
Deficiency of Glucose-6-Phosphatase 12
Storage Disease, Glycogen, Type 1a 40
Gsd Due to G6p Deficiency Type 1a 59
Gsd Due to G6p Deficiency Type Ia 59
Glycogen Storage Disease I; Gsd1 57
Glycogen Storage Disease Type Ia 73
Glucose-6-Phosphate Deficiency 25
G6p Deficiency Type 1a 59
Glycogenosis Type Ia 59
Glycogenosis Type I 12
Glycogenosis Type 1 53
Gsd Type 1a 59
Gsd Type I 25
Gsd Ia 57
Gsd-Ia 75
Gsd I 25
Gsdia 59

Characteristics:

Orphanet epidemiological data:

59
glycogen storage disease due to glucose-6-phosphatase deficiency type ia
Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
glycogen storage disease ia:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Glycogen Storage Disease Ia

NIH Rare Diseases : 53 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 glycogen storage disease due to glucose-6-phosphatase deficiency and fanconi-bickel syndrome, 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 : 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 : 57 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 : 75 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 : 76 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 top 50) (show all 56)
# Related Disease Score Top Affiliating Genes
1 glycogen storage disease due to glucose-6-phosphatase deficiency 32.3 G6PC SLC37A4
2 fanconi-bickel syndrome 32.2 G6PC INS
3 hyperlipoproteinemia, type v 31.4 APOC2 INS LPL
4 glycogen storage disease 30.6 G6PC G6PC3 PHKA2 PYGL SLC37A4
5 fructose-1,6-bisphosphatase deficiency 30.2 ALDOB G6PC G6PC3
6 g6pc3 deficiency 11.5
7 glycogen storage disease ib 11.3
8 glycogen storage disease ic 11.3
9 glycogen storage disease v 11.3
10 malaria 11.1
11 glycogen storage disease ixa1 11.1
12 hepatic adenomas, familial 10.3
13 hyperuricemia 10.3
14 hepatocellular adenoma 10.2
15 hypoglycemia 10.2
16 moyamoya disease 1 10.1
17 sickle cell anemia 10.1
18 apolipoprotein c-ii deficiency 10.1 APOC2 LPL
19 adenoma 10.1
20 familial lipoprotein lipase deficiency 10.1 APOC2 LPL
21 hepatocellular carcinoma 10.1
22 xanthomatosis 10.1
23 gastric cancer 10.1
24 arthritis 10.1
25 gout 10.1
26 glycogen storage disease ix 10.1 PHKA2 PYGL
27 glycogen storage disease vi 10.1 G6PC PYGL
28 hyperlipidemia, familial combined 10.1 APOC2 LPL
29 hyperlipoproteinemia, type iv 10.1 APOC2 LPL
30 pyruvate carboxylase deficiency 10.0
31 hyperinsulinemic hypoglycemia, familial, 2 10.0
32 pulmonary hypertension 10.0
33 neutropenia 10.0
34 inflammatory bowel disease 10.0
35 fanconi syndrome 10.0
36 hypothyroidism 10.0
37 pancreatitis 10.0
38 hypopituitarism 10.0
39 chitotriosidase deficiency 10.0
40 albinism, oculocutaneous, type iv 10.0 G6PC G6PC3
41 glycogen storage disease iii 10.0 ALDOB G6PC PYGL
42 hyperinsulinemic hypoglycemia, familial, 7 10.0 ALDOB INS
43 galactosemia 9.9 ALDOB G6PC GALK1
44 fatty liver disease 9.9
45 diabetes mellitus 9.9
46 lecithin:cholesterol acyltransferase deficiency 9.9 APOC2 LPL
47 hypertriglyceridemia, familial 9.8 APOC2 INS LPL
48 endocrine pancreas disease 9.8 INS LPL
49 familial hyperlipidemia 9.8 APOC2 INS LPL
50 hypercholesterolemia, familial 9.8 APOC2 INS LPL

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:

57
Cardiovascular Vascular:
hypertension

Growth Height:
short stature

Growth Other:
delayed puberty

Muscle Soft Tissue:
decreased muscle mass

Abdomen Pancreas:
pancreatitis

Abdomen Gastrointestinal:
intermittent diarrhea

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

Abdomen External Features:
protuberant abdomen

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:

32 (show all 25)
# Description HPO Frequency HPO Source Accession
1 hypertension 32 HP:0000822
2 hepatomegaly 32 HP:0002240
3 short stature 32 HP:0004322
4 proteinuria 32 HP:0000093
5 delayed puberty 32 HP:0000823
6 osteoporosis 32 HP:0000939
7 decreased muscle mass 32 HP:0003199
8 hypoglycemia 32 HP:0001943
9 abnormal bleeding 32 HP:0001892
10 pancreatitis 32 HP:0001733
11 lactic acidosis 32 HP:0003128
12 hyperlipidemia 32 HP:0003077
13 nephrolithiasis 32 HP:0000787
14 gout 32 HP:0001997
15 enlarged kidney 32 HP:0000105
16 xanthomatosis 32 HP:0000991
17 xanthelasma 32 HP:0001114
18 hepatocellular carcinoma 32 HP:0001402
19 protuberant abdomen 32 HP:0001538
20 intermittent diarrhea 32 HP:0002254
21 focal segmental glomerulosclerosis 32 HP:0000097
22 decreased glomerular filtration rate 32 HP:0012213
23 lipemia retinalis 32 HP:0000660
24 doll-like facies 32 HP:0000295
25 elevated hepatic transaminase 32 HP:0002910

UMLS symptoms related to Glycogen Storage Disease Ia:


intermittent diarrhea

MGI Mouse Phenotypes related to Glycogen Storage Disease Ia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.56 ALDOB APOC2 G6PC G6PC3 GALK1 INS
2 liver/biliary system MP:0005370 9.02 ALDOB G6PC INS 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 Pharmaceutical Solutions Phase 1, Phase 2
2 Hypoglycemic Agents

Interventional clinical trials:

(show all 12)
# 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 Glycosade v UCCS in the Dietary Management of Hepatic GSD Recruiting NCT02318966 Not Applicable
10 Biomarker for Glycogen Storage Diseases Recruiting NCT02385162
11 Anaplerotic Therapy Using Triheptanoin for Patients With Glycogen Storage Disease Type I Not yet recruiting NCT03665636 Early Phase 1 Triheptanoin
12 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 29 G6PC
2 Glycogen Storage Disease, Type I 29

Anatomical Context for Glycogen Storage Disease Ia

MalaCards organs/tissues related to Glycogen Storage Disease Ia:

41
Kidney, Liver, Small Intestine, Bone, Bone Marrow, Heart, Pancreas

Publications for Glycogen Storage Disease Ia

Articles related to Glycogen Storage Disease Ia:

(show top 50) (show all 115)
# Title Authors Year
1
Polycystic kidney features of the renal pathology in glycogen storage disease type I: possible evolution to renal neoplasia. ( 29869165 )
2018
2
Disturbed sphingolipid metabolism with elevated 1-deoxysphingolipids in glycogen storage disease type I - A link to metabolic control. ( 30037504 )
2018
3
Malignant transformation of hepatocellular adenoma with bone marrow metaplasia arising in glycogen storage disease type I: A case report. ( 27900094 )
2016
4
Progressive development of renal cysts in glycogen storage disease type I. ( 27436577 )
2016
5
Safety and Efficacy of Chronic Extended Release Cornstarch Therapy for Glycogen Storage Disease Type I. ( 26303612 )
2015
6
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
7
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
8
Progression of renal damage in glycogen storage disease type I is associated to hyperlipidemia: a multicenter prospective italian study. ( 25641239 )
2015
9
Alternative nighttime nutrition regimens in glycogen storage disease type I: a controlled crossover study. ( 26109257 )
2015
10
Glycogen Storage Disease Type I Presenting with Hypertension During Infancy. ( 25735438 )
2015
11
Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics. ( 25356975 )
2014
12
Pregnancy in women with glycogen storage disease Ia and Ib. ( 24476649 )
2014
13
Glycogen storage disease type I: clinical and laboratory profile. ( 25019649 )
2014
14
Liver transplantation in glycogen storage disease type I. ( 24716823 )
2014
15
Regression of Hepatocellular Adenomas with Strict Dietary Therapy in Patients with Glycogen Storage Disease Type I. ( 25308557 )
2014
16
Neonatal Glycogen Storage Disease Ia. ( 25182376 )
2014
17
Continuous glucose monitoring in children with glycogen storage disease type I. ( 24149443 )
2014
18
Asymmetric dimethylarginine (ADMA) and L-arginine levels in children with glycogen storage disease type I. ( 23412857 )
2013
19
Quality of Life in Adult Patients with Glycogen Storage Disease Type I: Results of a Multicenter Italian Study. ( 24363035 )
2013
20
Fertility and pregnancy in women affected by glycogen storage disease type I, results of a multicenter Italian study. ( 22562700 )
2013
21
Molecular characterization of hepatocellular adenomas developed in patients with glycogen storage disease type I. ( 23046672 )
2013
22
Multiple hepatocellular adenomas in a patient with glycogen storage disease type I: various enhancement patterns in MRI with Gd-EOB-DTPA. ( 21416130 )
2012
23
A novel type heterozygous mutation in the glucose-6-phosphatase gene in a Chinese patient with glycogen storage disease Ia. ( 23000067 )
2012
24
Hypercalcemia in glycogen storage disease type I patients of Turkish origin. ( 22397040 )
2012
25
[Cardiovascular risk profile of patients with glycogen storage disease type I]. ( 21924075 )
2011
26
Natural history of hepatocellular adenoma formation in glycogen storage disease type I. ( 21481415 )
2011
27
Dietary dilemmas in the management of glycogen storage disease type I. ( 21491105 )
2011
28
Hepatorenal correction in murine glycogen storage disease type I with a double-stranded adeno-associated virus vector. ( 21730973 )
2011
29
Glycogen storage disease type I and G6Pase-I^ deficiency: etiology and therapy. ( 20975743 )
2010
30
Hypovitaminosis D in glycogen storage disease type I. ( 20060350 )
2010
31
Ischemic stroke in an adult with glycogen storage disease type I. ( 20699197 )
2010
32
Adiponectin levels correlate with the severity of hypertriglyceridaemia in glycogen storage disease Ia. ( 19267215 )
2009
33
Cell death and stress signaling in glycogen storage disease type I. ( 19756389 )
2009
34
Renal function in glycogen storage disease type I, natural course, and renopreservative effects of ACE inhibition. ( 19808227 )
2009
35
Vascular dysfunction in glycogen storage disease type I. ( 19101686 )
2009
36
A detailed characterization of the adult mouse model of glycogen storage disease Ia. ( 19581879 )
2009
37
Bispectral index may not reflect the depth of anaesthesia in a patient with glycogen storage disease type I. ( 19749120 )
2009
38
Emerging therapies for glycogen storage disease type I. ( 19541498 )
2009
39
Psychosocial functioning in youth with glycogen storage disease type I. ( 18296725 )
2008
40
Preemptive living donor liver transplantation in glycogen storage disease Ia: case report. ( 18929868 )
2008
41
Glycogen storage disease type I in Tunisia: an epidemiological analysis. ( 18679824 )
2008
42
Advanced glycation end products and the absence of premature atherosclerosis in glycogen storage disease Ia. ( 17570077 )
2007
43
Increased prevalence of thyroid autoimmunity and hypothyroidism in patients with glycogen storage disease type I. ( 17307551 )
2007
44
Glycogen storage disease type I--between chronic ambulatory follow-up and pediatric emergency. ( 17410288 )
2007
45
Combined liver-kidney transplantation in glycogen storage disease Ia: a case beyond the guidelines. ( 17457869 )
2007
46
[Prenatal diagnosis of glycogen storage disease Ia by screening for hot spot mutations in combination with the 1176 nucleotide polymorphism linkage analysis]. ( 15696478 )
2005
47
Exercise capacity and biochemical profile during exercise in patients with glycogen storage disease type I. ( 15671110 )
2005
48
Brain damage in glycogen storage disease type I. ( 15127000 )
2004
49
Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population. ( 15316959 )
2004
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:

75 (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 rs105751700
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 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
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 top 50) (show all 1070)
# 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.1015G> T (p.Gly339Cys) single nucleotide variant Pathogenic rs80356490 GRCh38 Chromosome 11, 119025299: 119025299
3 SLC37A4 NM_001164277.1(SLC37A4): c.1063G> T (p.Glu355Ter) single nucleotide variant Pathogenic rs121908975 GRCh37 Chromosome 11, 118895961: 118895961
4 SLC37A4 NM_001164277.1(SLC37A4): c.1063G> T (p.Glu355Ter) single nucleotide variant Pathogenic rs121908975 GRCh38 Chromosome 11, 119025251: 119025251
5 SLC37A4 NM_001164277.1(SLC37A4): c.352T> C (p.Trp118Arg) single nucleotide variant Pathogenic rs80356489 GRCh37 Chromosome 11, 118898933: 118898933
6 SLC37A4 NM_001164277.1(SLC37A4): c.352T> C (p.Trp118Arg) single nucleotide variant Pathogenic rs80356489 GRCh38 Chromosome 11, 119028223: 119028223
7 SLC37A4 SLC37A4, 4-BP DEL, 2-BP INS, NT1094 indel Pathogenic
8 SLC37A4 SLC37A4, 170-BP DEL, NT148 deletion Pathogenic
9 SLC37A4 NM_001467.5(SLC37A4): c.1042_1043delCT (p.Leu348Valfs) deletion Pathogenic/Likely pathogenic rs80356491 GRCh37 Chromosome 11, 118895981: 118895982
10 SLC37A4 NM_001467.5(SLC37A4): c.1042_1043delCT (p.Leu348Valfs) deletion Pathogenic/Likely pathogenic rs80356491 GRCh38 Chromosome 11, 119025271: 119025272
11 SLC37A4 NM_001164277.1(SLC37A4): c.287G> A (p.Trp96Ter) single nucleotide variant Likely pathogenic rs121908976 GRCh37 Chromosome 11, 118898998: 118898998
12 SLC37A4 NM_001164277.1(SLC37A4): c.287G> A (p.Trp96Ter) single nucleotide variant Likely pathogenic rs121908976 GRCh38 Chromosome 11, 119028288: 119028288
13 SLC37A4 SLC37A4, 12-BP INS, NT1103 insertion Pathogenic
14 SLC37A4 NM_001164277.1(SLC37A4): c.703_705delGTG (p.Val236del) deletion Pathogenic rs121908977 GRCh37 Chromosome 11, 118897726: 118897728
15 SLC37A4 NM_001164277.1(SLC37A4): c.703_705delGTG (p.Val236del) deletion Pathogenic rs121908977 GRCh38 Chromosome 11, 119027016: 119027018
16 SLC37A4 SLC37A4, IVS7, G-T, +1 single nucleotide variant Pathogenic
17 SLC37A4 SLC37A4, IVS1, G-A, +1 single nucleotide variant Pathogenic
18 SLC37A4 NM_001164277.1(SLC37A4): c.83G> A (p.Arg28His) single nucleotide variant Likely pathogenic rs121908978 GRCh37 Chromosome 11, 118899997: 118899997
19 SLC37A4 NM_001164277.1(SLC37A4): c.83G> A (p.Arg28His) single nucleotide variant Likely pathogenic rs121908978 GRCh38 Chromosome 11, 119029287: 119029287
20 SLC37A4 NM_001164277.1(SLC37A4): c.1243C> T (p.Arg415Ter) single nucleotide variant Pathogenic rs121908979 GRCh37 Chromosome 11, 118895667: 118895667
21 SLC37A4 NM_001164277.1(SLC37A4): c.1243C> T (p.Arg415Ter) single nucleotide variant Pathogenic rs121908979 GRCh38 Chromosome 11, 119024957: 119024957
22 SLC37A4 NM_001164277.1(SLC37A4): c.1016G> A (p.Gly339Asp) single nucleotide variant Pathogenic rs121908980 GRCh37 Chromosome 11, 118896008: 118896008
23 SLC37A4 NM_001164277.1(SLC37A4): c.1016G> A (p.Gly339Asp) single nucleotide variant Pathogenic rs121908980 GRCh38 Chromosome 11, 119025298: 119025298
24 SLC37A4 SLC37A4, 794G-A single nucleotide variant Pathogenic
25 G6PC NM_000151.3(G6PC): c.230+4A> G single nucleotide variant Pathogenic rs587776757 GRCh38 Chromosome 17, 42901110: 42901110
26 G6PC NM_000151.3(G6PC): c.648G> T (p.Leu216=) single nucleotide variant Pathogenic/Likely pathogenic rs80356484 GRCh37 Chromosome 17, 41063017: 41063017
27 G6PC NM_000151.3(G6PC): c.648G> T (p.Leu216=) single nucleotide variant Pathogenic/Likely pathogenic rs80356484 GRCh38 Chromosome 17, 42911000: 42911000
28 G6PC NM_000151.3(G6PC): c.230+4A> G single nucleotide variant Pathogenic rs587776757 GRCh37 Chromosome 17, 41053127: 41053127
29 G6PC NM_000151.3(G6PC): c.379_380dupTA (p.Tyr128Thrfs) duplication Pathogenic/Likely pathogenic rs80356488 GRCh37 Chromosome 17, 41059578: 41059579
30 G6PC NM_000151.3(G6PC): c.379_380dupTA (p.Tyr128Thrfs) duplication Pathogenic/Likely pathogenic rs80356488 GRCh38 Chromosome 17, 42907561: 42907562
31 G6PC NM_000151.3(G6PC): c.247C> T (p.Arg83Cys) single nucleotide variant Pathogenic rs1801175 GRCh37 Chromosome 17, 41055964: 41055964
32 G6PC NM_000151.3(G6PC): c.247C> T (p.Arg83Cys) single nucleotide variant Pathogenic rs1801175 GRCh38 Chromosome 17, 42903947: 42903947
33 G6PC NM_000151.3(G6PC): c.883C> T (p.Arg295Cys) single nucleotide variant Pathogenic/Likely pathogenic rs104894563 GRCh37 Chromosome 17, 41063252: 41063252
34 G6PC NM_000151.3(G6PC): c.883C> T (p.Arg295Cys) single nucleotide variant Pathogenic/Likely pathogenic rs104894563 GRCh38 Chromosome 17, 42911235: 42911235
35 G6PC NM_000151.3(G6PC): c.1039C> T (p.Gln347Ter) single nucleotide variant Pathogenic rs80356487 GRCh37 Chromosome 17, 41063408: 41063408
36 G6PC NM_000151.3(G6PC): c.1039C> T (p.Gln347Ter) single nucleotide variant Pathogenic rs80356487 GRCh38 Chromosome 17, 42911391: 42911391
37 G6PC NM_000151.3(G6PC): c.229T> C (p.Trp77Arg) single nucleotide variant Likely pathogenic rs104894566 GRCh37 Chromosome 17, 41053122: 41053122
38 G6PC NM_000151.3(G6PC): c.229T> C (p.Trp77Arg) single nucleotide variant Likely pathogenic rs104894566 GRCh38 Chromosome 17, 42901105: 42901105
39 G6PC NM_000151.3(G6PC): c.113A> T (p.Asp38Val) single nucleotide variant Pathogenic rs104894565 GRCh37 Chromosome 17, 41053006: 41053006
40 G6PC NM_000151.3(G6PC): c.113A> T (p.Asp38Val) single nucleotide variant Pathogenic rs104894565 GRCh38 Chromosome 17, 42900989: 42900989
41 G6PC NM_000151.3(G6PC): c.328G> A (p.Glu110Lys) single nucleotide variant Likely pathogenic rs104894567 GRCh37 Chromosome 17, 41056045: 41056045
42 G6PC NM_000151.3(G6PC): c.328G> A (p.Glu110Lys) single nucleotide variant Likely pathogenic rs104894567 GRCh38 Chromosome 17, 42904028: 42904028
43 G6PC NM_000151.3(G6PC): c.370G> A (p.Ala124Thr) single nucleotide variant Pathogenic rs104894568 GRCh37 Chromosome 17, 41059569: 41059569
44 G6PC NM_000151.3(G6PC): c.370G> A (p.Ala124Thr) single nucleotide variant Pathogenic rs104894568 GRCh38 Chromosome 17, 42907552: 42907552
45 G6PC NM_000151.3(G6PC): c.551G> A (p.Gly184Glu) single nucleotide variant Pathogenic rs104894569 GRCh37 Chromosome 17, 41061424: 41061424
46 G6PC NM_000151.3(G6PC): c.551G> A (p.Gly184Glu) single nucleotide variant Pathogenic rs104894569 GRCh38 Chromosome 17, 42909407: 42909407
47 G6PC NM_000151.3(G6PC): c.562G> C (p.Gly188Arg) single nucleotide variant Pathogenic rs80356482 GRCh37 Chromosome 17, 41061435: 41061435
48 G6PC NM_000151.3(G6PC): c.562G> C (p.Gly188Arg) single nucleotide variant Pathogenic rs80356482 GRCh38 Chromosome 17, 42909418: 42909418
49 G6PC NM_000151.3(G6PC): c.248G> A (p.Arg83His) single nucleotide variant Pathogenic rs1801176 GRCh37 Chromosome 17, 41055965: 41055965
50 G6PC NM_000151.3(G6PC): c.248G> A (p.Arg83His) single nucleotide variant Pathogenic rs1801176 GRCh38 Chromosome 17, 42903948: 42903948

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:

37
# 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:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.65 ALDOB APOC2 G6PC G6PC3 GALK1 INS
2
Show member pathways
12.63 G6PC G6PC3 INS PHKA2 PYGL
3
Show member pathways
12.19 G6PC INS LPL
4
Show member pathways
12.12 G6PC G6PC3 INS
5
Show member pathways
12.01 ALDOB G6PC G6PC3 PHKA2 PYGL SLC37A4
6
Show member pathways
11.92 ALDOB G6PC G6PC3 GALK1 PHKA2 PYGL
7
Show member pathways
11.81 G6PC G6PC3 INS
8
Show member pathways
11.75 G6PC G6PC3 GALK1 PYGL
9
Show member pathways
11.65 G6PC G6PC3 SLC37A4
10
Show member pathways
11.6 G6PC G6PC3 INS PYGL
11 11.47 G6PC G6PC3 PHKA2 PYGL
12 11.25 G6PC G6PC3 SLC37A4
13 11.22 ALDOB G6PC INS
14 11.07 PHKA2 PYGL

GO Terms for Glycogen Storage Disease Ia

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

# Name GO ID Score Top Affiliating Genes
1 very-low-density lipoprotein particle GO:0034361 8.96 APOC2 LPL
2 chylomicron GO:0042627 8.62 APOC2 LPL

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.71 GALK1 INS PHKA2 PYGL
2 glucose homeostasis GO:0042593 9.62 G6PC INS PYGL SLC37A4
3 cholesterol homeostasis GO:0042632 9.56 APOC2 G6PC LPL SLC37A4
4 glucose metabolic process GO:0006006 9.54 INS SLC37A4
5 triglyceride metabolic process GO:0006641 9.54 G6PC LPL SLC37A4
6 triglyceride homeostasis GO:0070328 9.52 APOC2 LPL
7 phosphate-containing compound metabolic process GO:0006796 9.51 G6PC G6PC3
8 glycogen catabolic process GO:0005980 9.49 G6PC PYGL
9 glucose 6-phosphate metabolic process GO:0051156 9.48 G6PC G6PC3
10 very-low-density lipoprotein particle remodeling GO:0034372 9.46 APOC2 LPL
11 chylomicron remodeling GO:0034371 9.43 APOC2 LPL
12 glucose-6-phosphate transport GO:0015760 9.33 G6PC G6PC3 SLC37A4
13 gluconeogenesis GO:0006094 9.26 ALDOB G6PC G6PC3 SLC37A4
14 glycogen metabolic process GO:0005977 8.92 G6PC 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 phosphotransferase activity, alcohol group as acceptor GO:0016773 8.96 G6PC GALK1
2 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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