MCID: GLY007
MIFTS: 51

Glycogen Storage Disease Iv

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

Aliases & Classifications for Glycogen Storage Disease Iv

MalaCards integrated aliases for Glycogen Storage Disease Iv:

Name: Glycogen Storage Disease Iv 53 12 23 24 71 13 14
Glycogen Storage Disease Type Iv 23 24 36 51 41 69
Glycogen Branching Enzyme Deficiency 53 23 49 24 71
Andersen Disease 53 23 49 24 71
Amylopectinosis 53 12 49 24 71
Gsd Iv 53 23 49 24 71
Brancher Deficiency 53 49 24
Glycogenosis Iv 53 23 71
Gsd4 53 24 71
Cirrhosis, Familial, with Deposition of Abnormal Glycogen 53 49
Glycogen Storage Disease, Type Iv 12 28
Glycogen Storage Disease Type 4 49 24
Andersen's Disease 72 24
Gbe1 Deficiency 53 71
Glycogenosis 4 49 24
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic and Myopathic Form 55
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form 55
Glycogenosis Due to Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic and Myopathic Form 55
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form 55
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form 55
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form 55
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form 55
Gsd Due to Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic and Myopathic Form 55
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form 55
Glycogenosis Due to Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form 55
Glycogenosis Due to Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form 55
Glycogenosis Due to Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form 55
Glycogenosis Due to Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form 55
Gsd Due to Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form 55
Glycogenosis Due to Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form 55
Glycogenosis Due to Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form 55
Glycogen Storage Disease Type Iv, Childhood Combined Hepatic and Myopathic Form 55
Gsd Due to Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form 55
Glycogen Storage Disease Type 4, Childhood Combined Hepatic and Myopathic Form 55
Gsd Due to Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form 55
Gsd Due to Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form 55
Gsd Due to Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form 55
Gsd Due to Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form 55
Glycogen Storage Disease Type Iv, Fatal Perinatal Neuromuscular Form 55
Glycogenosis Type Iv, Childhood Combined Hepatic and Myopathic Form 55
Glycogen Storage Disease Type 4, Fatal Perinatal Neuromuscular Form 55
Glycogenosis Type 4, Childhood Combined Hepatic and Myopathic Form 55
Glycogen Storage Disease Type Iv, Congenital Neuromuscular Form 55
Glycogen Storage Disease Type Iv, Childhood Neuromuscular Form 55
Glycogen Storage Disease Type 4, Congenital Neuromuscular Form 55
Glycogen Storage Disease Type Iv, Non Progressive Hepatic Form 55
Glycogen Storage Disease Type 4, Childhood Neuromuscular Form 55
Gbe Deficiency, Childhood Combined Hepatic and Myopathic Form 55
Glycogen Storage Disease Type 4, Non Progressive Hepatic Form 55
Glycogen Storage Disease Type Iv, Adult Neuromuscular Form 55
Glycogen Storage Disease Type Iv, Progressive Hepatic Form 55
Glycogen Storage Disease Type 4, Adult Neuromuscular Form 55
Gsd Type 4, Childhood Combined Hepatic and Myopathic Form 55
Glycogen Storage Disease Type 4, Progressive Hepatic Form 55
Glycogenosis Type Iv, Fatal Perinatal Neuromuscular Form 55
Glycogenosis Type 4, Fatal Perinatal Neuromuscular Form 55
Gsdiv, Childhood Combined Hepatic and Myopathic Form 55
Glycogenosis Type Iv, Congenital Neuromuscular Form 55
Glycogenosis Type Iv, Childhood Neuromuscular Form 55
Glycogenosis Type 4, Congenital Neuromuscular Form 55
Gbe Deficiency, Fatal Perinatal Neuromuscular Form 55
Glycogenosis Type Iv, Non Progressive Hepatic Form 55
Glycogenosis Type 4, Childhood Neuromuscular Form 55
Glycogenosis Type 4, Non Progressive Hepatic Form 55
Deficiency of 1,4-Alpha-Glucan Branching Enzyme 12
Glycogenosis Type Iv, Adult Neuromuscular Form 55
Gsd Type 4, Fatal Perinatal Neuromuscular Form 55
Glycogenosis Type Iv, Progressive Hepatic Form 55
Branching-Transferase Deficiency Glycogenosis 12
Glycogenosis Type 4, Adult Neuromuscular Form 55
Gbe Deficiency, Congenital Neuromuscular Form 55
Glycogenosis Type 4, Progressive Hepatic Form 55
Gbe Deficiency, Childhood Neuromuscular Form 55
Gbe Deficiency, Non Progressive Hepatic Form 55
Gsd Type 4, Congenital Neuromuscular Form 55
Gsdiv, Fatal Perinatal Neuromuscular Form 55
Gsd Type 4, Childhood Neuromuscular Form 55
Gbe Deficiency, Adult Neuromuscular Form 55
Gsd Type 4, Non Progressive Hepatic Form 55
Gbe Deficiency, Progressive Hepatic Form 55
Gsd Type 4, Adult Neuromuscular Form 55
Gsdiv, Congenital Neuromuscular Form 55
Gsd Type 4, Progressive Hepatic Form 55
Gsdiv, Childhood Neuromuscular Form 55
Gsdiv, Non Progressive Hepatic Form 55
Brancher Deficiency Glycogenosis 12
Gsdiv, Adult Neuromuscular Form 55
Gsdiv, Progressive Hepatic Form 55
Branching Enzyme Deficiency 24
Glycogen Storage Disease 4 71
Glycogen Branching Enzyme 13
Andersen Glycogenosis 24
Glycogenosis, Type Iv 24
Glycogenosis Type Iv 72
Type Iv Glycogenosis 24
Gsd Type Iv 24
Gsd-Iv 71
Gsd 4 49

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
extreme clinical heterogeneity
classic hepatic form begins in first months of life with hepatic failure and death by age 5 years
nonprogressive hepatic form is less frequent
neuromuscular forms can present as perinate, infant, child, or adult
allelic disorder to adult polyglucosan body disease


HPO:

31
glycogen storage disease iv:
Inheritance autosomal recessive inheritance


GeneReviews:

23
Penetrance Penetrance for gsd iv is complete in those with biallelic pathogenic variants but shows extensive clinical variability between families and may show age-related progression of symptoms over time...

Classifications:



Summaries for Glycogen Storage Disease Iv

NIH Rare Diseases : 49 Glycogen storage disease type 4 (GSD 4) is part of a group of disorders which lead to abnormal accumulation of glycogen (a storage form of glucose) in various parts of the body. Symptoms of GSD 4 usually begin in infancy and typically include failure to thrive; enlarged liver and spleen (hepatosplenomegaly); and in many cases, progressive liver cirrhosis and liver failure. In rare cases individuals may have a form with non-progressive liver disease, or a severe neuromuscular form. GSD 4 is caused by mutations in the GBE1 gene and is inherited in an autosomal recessive manner. Treatment typically focuses on the specific symptoms that are present in each individual. Last updated: 12/23/2012

MalaCards based summary : Glycogen Storage Disease Iv, also known as glycogen storage disease type iv, is related to polyglucosan body myopathy 1 with or without immunodeficiency and glycogen storage disease, and has symptoms including edema, muscle weakness and hepatosplenomegaly. An important gene associated with Glycogen Storage Disease Iv is GBE1 (1,4-Alpha-Glucan Branching Enzyme 1), and among its related pathways/superpathways are Starch and sucrose metabolism and Glycosaminoglycan metabolism. The drug Pharmaceutical Solutions has been mentioned in the context of this disorder. Affiliated tissues include liver, spleen and skeletal muscle, and related phenotype is liver/biliary system.

UniProtKB/Swiss-Prot : 71 Glycogen storage disease 4: A metabolic disorder characterized by the accumulation of an amylopectin-like polysaccharide. The typical clinical manifestation is liver disease of childhood, progressing to lethal hepatic cirrhosis. Most children with this condition die before two years of age. However, the liver disease is not always progressive. No treatment apart from liver transplantation has been found to prevent progression of the disease. There is also a neuromuscular form of glycogen storage disease type 4 that varies in onset (perinatal, congenital, juvenile, or adult) and severity.

Genetics Home Reference : 24 Glycogen storage disease type IV (GSD IV) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulated glycogen is structurally abnormal and impairs the function of certain organs and tissues, especially the liver and muscles. There are five types of GSD IV, which are distinguished by their severity, signs, and symptoms.

Wikipedia : 72 Glycogen storage disease type IV, also known as Anderson’s Disease, is a form of glycogen storage... more...

Description from OMIM: 232500
GeneReviews: NBK115333

Related Diseases for Glycogen Storage Disease Iv

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



Diseases related to Glycogen Storage Disease Iv

Symptoms & Phenotypes for Glycogen Storage Disease Iv

Symptoms via clinical synopsis from OMIM:

53
Muscle Soft Tissue:
muscle weakness
muscle atrophy

Growth Other:
failure to thrive

Neurologic Central Nervous System:
hypotonia

Cardiovascular Heart:
cardiomyopathy (in a subset of patients)

Skeletal:
arthrogryposis multiplex (in perinatal or congenital neuromuscular forms)

Prenatal Manifestations Movement:
decreased fetal movement (in perinatal or congenital neuromuscular forms)

Abdomen Liver:
hepatosplenomegaly
portal hypertension
cirrhosis
liver biopsy shows diffuse interstitial fibrosis
enlarged hepatocytes with periodic acid-schiff-positive, diastase-resistant inclusions
more
Abdomen:
ascites

Laboratory Abnormalities:
normal serum creatine kinase
amylo(1,4 - 1,6) transglucosidase deficiency (brancher enzyme)
broad tissue deposition of amylopectin-like material

Abdomen Gastroin testinal:
esophageal varices

Neurologic Peripheral Nervous System:
decreased to absent deep tendon reflexes

Prenatal Manifestations Amniotic Fluid:
polyhydramnios (in perinatal or congenital neuromuscular forms)
fetal hydrops (in perinatal or congenital neuromuscular forms)


Clinical features from OMIM:

232500

Human phenotypes related to Glycogen Storage Disease Iv:

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 edema 31 HP:0000969
2 muscle weakness 31 HP:0001324
3 hepatosplenomegaly 31 HP:0001433
4 failure to thrive 31 HP:0001508
5 portal hypertension 31 HP:0001409
6 ascites 31 HP:0001541
7 skeletal muscle atrophy 31 HP:0003202
8 hydrops fetalis 31 HP:0001789
9 cirrhosis 31 HP:0001394
10 cardiomyopathy 31 HP:0001638
11 reduced tendon reflexes 31 HP:0001315
12 arthrogryposis multiplex congenita 31 HP:0002804
13 polyhydramnios 31 HP:0001561
14 hepatic failure 31 HP:0001399
15 esophageal varix 31 HP:0002040
16 decreased fetal movement 31 HP:0001558
17 generalized hypotonia 31 HP:0001290
18 tubulointerstitial fibrosis 31 HP:0005576

UMLS symptoms related to Glycogen Storage Disease Iv:


muscle weakness, hepatosplenomegaly

MGI Mouse Phenotypes related to Glycogen Storage Disease Iv:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 8.92 AGL G6PC GBE1 RBCK1

Drugs & Therapeutics for Glycogen Storage Disease Iv

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Triheptanoin Treatment Trial for Patients With Adult Polyglucosan Body Disease Completed NCT00947960 Phase 2 Triheptanoin
2 Glycogen Storage Disease Type IV Database Recruiting NCT02683512
3 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Recruiting NCT02635269
4 Biomarker for Glycogen Storage Diseases Recruiting NCT02385162

Search NIH Clinical Center for Glycogen Storage Disease Iv

Cochrane evidence based reviews: glycogen storage disease type iv

Genetic Tests for Glycogen Storage Disease Iv

Genetic tests related to Glycogen Storage Disease Iv:

# Genetic test Affiliating Genes
1 Glycogen Storage Disease, Type Iv 28 GBE1

Anatomical Context for Glycogen Storage Disease Iv

MalaCards organs/tissues related to Glycogen Storage Disease Iv:

38
Liver, Spleen, Skeletal Muscle

Publications for Glycogen Storage Disease Iv

Articles related to Glycogen Storage Disease Iv:

# Title Authors Year
1
Glycogen-branching enzyme deficiency leads to abnormal cardiac development: novel insights into glycogen storage disease IV. ( 21075835 )
2011
2
Anesthetic management in a child with Glycogen Storage Disease IV. ( 20519014 )
2010
3
Glycogen branching enzyme (GBE1) mutation causing equine glycogen storage disease IV. ( 15366377 )
2004
4
Genetic mapping of GBE1 and its association with glycogen storage disease IV in American Quarter horses. ( 14970703 )
2003
5
Studies in glycogen storage disease. IV. Leukocyte phosphorylase in a family with type VI GSD. ( 4313495 )
1970

Variations for Glycogen Storage Disease Iv

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

71
# Symbol AA change Variation ID SNP ID
1 GBE1 p.Leu224Pro VAR_022429 rs137852886
2 GBE1 p.Phe257Leu VAR_022430 rs137852887
3 GBE1 p.Tyr329Ser VAR_022431 rs80338671
4 GBE1 p.Arg515Cys VAR_022432 rs80338672
5 GBE1 p.Arg524Gln VAR_022434 rs80338673
6 GBE1 p.His545Arg VAR_022435 rs137852889
7 GBE1 p.His628Arg VAR_022436 rs137852891

ClinVar genetic disease variations for Glycogen Storage Disease Iv:

6 (show top 50) (show all 97)
# Gene Variation Type Significance SNP ID Assembly Location
1 AGL NM_000642.2(AGL): c.2590C> T (p.Arg864Ter) single nucleotide variant Pathogenic rs113994130 GRCh37 Chromosome 1, 100350168: 100350168
2 AGL NM_000642.2(AGL): c.3682C> T (p.Arg1228Ter) single nucleotide variant Pathogenic rs113994131 GRCh37 Chromosome 1, 100368332: 100368332
3 c.[708G> C]+[784C> T] undetermined variant Pathogenic
4 c.[c.38dupA]+[1571G> A] duplication Pathogenic
5 AGL NM_000642.2(AGL): c.94C> T (p.Gln32Ter) single nucleotide variant Likely pathogenic rs786204489 GRCh38 Chromosome 1, 99861514: 99861514
6 AGL NM_000642.2(AGL): c.100C> T (p.Arg34Ter) single nucleotide variant Likely pathogenic rs781580050 GRCh38 Chromosome 1, 99861520: 99861520
7 AGL NM_000642.2(AGL): c.118C> T (p.Gln40Ter) single nucleotide variant Pathogenic/Likely pathogenic rs771961377 GRCh38 Chromosome 1, 99861538: 99861538
8 AGL NM_000642.2(AGL): c.664+3A> G single nucleotide variant Likely pathogenic rs370792293 GRCh38 Chromosome 1, 99864592: 99864592
9 AGL NM_000642.2(AGL): c.1384delG (p.Val462Terfs) deletion Likely pathogenic rs786204678 GRCh37 Chromosome 1, 100342114: 100342114
10 AGL NM_000642.2(AGL): c.1391dupG (p.Asp465Argfs) duplication Likely pathogenic rs786204616 GRCh37 Chromosome 1, 100342121: 100342121
11 AGL NM_000642.2(AGL): c.2309-1G> A single nucleotide variant Likely pathogenic rs786204481 GRCh37 Chromosome 1, 100349675: 100349675
12 AGL NM_000642.2(AGL): c.3297G> A (p.Trp1099Ter) single nucleotide variant Likely pathogenic rs786204490 GRCh37 Chromosome 1, 100361879: 100361879
13 AGL NM_000642.2(AGL): c.3444C> G (p.Tyr1148Ter) single nucleotide variant Likely pathogenic rs776977863 GRCh37 Chromosome 1, 100366273: 100366273
14 AGL NM_000642.2(AGL): c.4197delA (p.Ala1400Leufs) deletion Likely pathogenic rs786204595 GRCh37 Chromosome 1, 100380980: 100380980
15 AGL NM_000642.2(AGL): c.4221dupA (p.Leu1408Ilefs) duplication Likely pathogenic rs786204655 GRCh37 Chromosome 1, 100381004: 100381004
16 AGL NM_000642.2(AGL): c.1485delT (p.Tyr495Terfs) deletion Pathogenic rs794727051 GRCh37 Chromosome 1, 100343258: 100343258
17 AGL NM_000642.2(AGL): c.18_19delGA (p.Gln6Hisfs) deletion Pathogenic/Likely pathogenic rs113994127 GRCh37 Chromosome 1, 100316616: 100316617
18 AGL NM_000642.2(AGL): c.256C> T (p.Gln86Ter) single nucleotide variant Pathogenic rs193186112 GRCh37 Chromosome 1, 100327232: 100327232
19 AGL NM_000642.2(AGL): c.535_538delTTAG (p.Leu179Asnfs) deletion Pathogenic rs794727706 GRCh37 Chromosome 1, 100330016: 100330019
20 AGL NM_000642.2(AGL): c.4529dupA (p.Tyr1510Terfs) duplication Pathogenic/Likely pathogenic rs387906244 GRCh37 Chromosome 1, 100387137: 100387137
21 AGL NM_000642.2(AGL): c.16C> T (p.Gln6Ter) single nucleotide variant Pathogenic/Likely pathogenic rs113994126 GRCh37 Chromosome 1, 100316614: 100316614
22 AGL NM_000642.2(AGL): c.2039G> A (p.Trp680Ter) single nucleotide variant Pathogenic rs113994129 GRCh37 Chromosome 1, 100346885: 100346885
23 AGL NM_000642.2(AGL): c.4456delT (p.Ser1486Profs) deletion Pathogenic rs113994134 GRCh37 Chromosome 1, 100382262: 100382262
24 AGL NM_000642.2(AGL): c.4260-12A> G single nucleotide variant Pathogenic/Likely pathogenic rs369973784 GRCh37 Chromosome 1, 100381954: 100381954
25 AGL NM_000642.2(AGL): c.1735+1G> T single nucleotide variant Pathogenic/Likely pathogenic rs199922945 GRCh37 Chromosome 1, 100345603: 100345603
26 AGL NM_000642.2(AGL): c.3965delT (p.Val1322Alafs) deletion Pathogenic rs113994132 GRCh37 Chromosome 1, 100379098: 100379098
27 AGL NM_000642.2(AGL): c.1222C> T (p.Arg408Ter) single nucleotide variant Pathogenic rs113994128 GRCh37 Chromosome 1, 100340950: 100340950
28 AGL NM_000642.2(AGL): c.3980G> A (p.Trp1327Ter) single nucleotide variant Pathogenic/Likely pathogenic rs267606640 GRCh37 Chromosome 1, 100379113: 100379113
29 GBE1 NM_000158.3(GBE1): c.783-1G> A single nucleotide variant Pathogenic rs397515342 GRCh37 Chromosome 3, 81692142: 81692142
30 GBE1 NM_000158.3(GBE1): c.986A> C (p.Tyr329Ser) single nucleotide variant Pathogenic rs80338671 GRCh37 Chromosome 3, 81691938: 81691938
31 GBE1 NM_000158.3(GBE1): c.671T> C (p.Leu224Pro) single nucleotide variant Pathogenic rs137852886 GRCh37 Chromosome 3, 81698027: 81698027
32 GBE1 NM_000158.3(GBE1): c.1543C> T (p.Arg515Cys) single nucleotide variant Pathogenic rs80338672 GRCh37 Chromosome 3, 81627151: 81627151
33 GBE1 NM_000158.3(GBE1): c.771T> A (p.Phe257Leu) single nucleotide variant Pathogenic rs137852887 GRCh37 Chromosome 3, 81695554: 81695554
34 GBE1 NM_000158.3(GBE1): c.1570C> T (p.Arg524Ter) single nucleotide variant Pathogenic rs137852888 GRCh37 Chromosome 3, 81627124: 81627124
35 GBE1 NM_000158.3(GBE1): c.1571G> A (p.Arg524Gln) single nucleotide variant Pathogenic rs80338673 GRCh37 Chromosome 3, 81627123: 81627123
36 GBE1 NM_000158.3(GBE1): c.993-?_1618+?del deletion Pathogenic GRCh37 Chromosome 3, 81586246: 81691932
37 GBE1 NM_000158.3(GBE1): c.143+1G> A single nucleotide variant Pathogenic rs397515343 GRCh37 Chromosome 3, 81810525: 81810525
38 GBE1 NM_000158.3(GBE1): c.1634A> G (p.His545Arg) single nucleotide variant Pathogenic rs137852889 GRCh37 Chromosome 3, 81586231: 81586231
39 GBE1 NM_000158.3(GBE1): c.1774G> T (p.Glu592Ter) single nucleotide variant Pathogenic rs137852890 GRCh37 Chromosome 3, 81586091: 81586091
40 GBE1 GBE1, 253-BP DEL deletion Pathogenic
41 GBE1 NM_000158.3(GBE1): c.1883A> G (p.His628Arg) single nucleotide variant Pathogenic rs137852891 GRCh37 Chromosome 3, 81584397: 81584397
42 GBE1 NM_000158.3(GBE1): c.708G> C (p.Gln236His) single nucleotide variant Pathogenic rs137852892 GRCh37 Chromosome 3, 81695617: 81695617
43 GBE1 NM_000158.3(GBE1): c.784C> T (p.Arg262Cys) single nucleotide variant Pathogenic rs137852893 GRCh37 Chromosome 3, 81692140: 81692140
44 GBE1 NM_000158.3(GBE1): c.691+5G> C single nucleotide variant Pathogenic rs397515344 GRCh37 Chromosome 3, 81698002: 81698002
45 GBE1 NM_000158.3(GBE1): c.1643G> A (p.Trp548Ter) single nucleotide variant Pathogenic rs137852894 GRCh37 Chromosome 3, 81586222: 81586222
46 GBE1 NM_000158.3(GBE1): c.691+2T> C single nucleotide variant Pathogenic/Likely pathogenic rs192044702 GRCh37 Chromosome 3, 81698005: 81698005
47 AGL NM_000642.2(AGL): c.772T> C (p.Ser258Pro) single nucleotide variant Likely pathogenic rs886039873 GRCh38 Chromosome 1, 99870507: 99870507
48 AGL NM_000642.2(AGL): c.1282A> G (p.Arg428Gly) single nucleotide variant Likely pathogenic rs886039883 GRCh38 Chromosome 1, 99875454: 99875454
49 AGL NM_000642.2(AGL): c.2681+1G> A single nucleotide variant Pathogenic rs201201443 GRCh37 Chromosome 1, 100350260: 100350260
50 AGL NM_000642.2(AGL): c.2158-1G> A single nucleotide variant Pathogenic rs886043990 GRCh37 Chromosome 1, 100347096: 100347096

Expression for Glycogen Storage Disease Iv

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

Pathways for Glycogen Storage Disease Iv

Pathways related to Glycogen Storage Disease Iv according to KEGG:

36
# Name Kegg Source Accession
1 Starch and sucrose metabolism hsa00500

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.41 AGL G6PC GAA GBE1 PYGL
2
Show member pathways
11.93 AGL G6PC GAA GBE1 PYGL
3
Show member pathways
11.74 PYGL RBCK1 RNF31
4
Show member pathways
11.44 G6PC PYGL
5 11.38 G6PC PYGL
6
Show member pathways
11.1 AGL G6PC GAA GBE1 PYGL
7 10.89 AGL GBE1 PYGL

GO Terms for Glycogen Storage Disease Iv

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

# Name GO ID Score Top Affiliating Genes
1 LUBAC complex GO:0071797 8.62 RBCK1 RNF31

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

# Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.63 AGL GAA PYGL
2 neutrophil degranulation GO:0043312 9.61 AGL GAA PYGL
3 carbohydrate metabolic process GO:0005975 9.54 GAA GBE1 PYGL
4 glucose homeostasis GO:0042593 9.48 G6PC PYGL
5 I-kappaB kinase/NF-kappaB signaling GO:0007249 9.4 RBCK1 RNF31
6 regulation of tumor necrosis factor-mediated signaling pathway GO:0010803 9.32 RBCK1 RNF31
7 glycogen biosynthetic process GO:0005978 9.26 AGL GBE1
8 glycogen catabolic process GO:0005980 9.26 AGL G6PC GAA PYGL
9 protein linear polyubiquitination GO:0097039 9.16 RBCK1 RNF31
10 glycogen metabolic process GO:0005977 9.02 AGL G6PC GAA GBE1 PYGL

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

# Name GO ID Score Top Affiliating Genes
1 transferase activity, transferring glycosyl groups GO:0016757 9.43 AGL GBE1 PYGL
2 transferase activity GO:0016740 9.43 AGL CPT2 GBE1 PYGL RBCK1 RNF31
3 hydrolase activity, acting on glycosyl bonds GO:0016798 9.37 AGL GAA
4 ubiquitin binding GO:0043130 9.32 RBCK1 RNF31
5 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.16 GAA GBE1
6 carbohydrate binding GO:0030246 8.92 AGL GAA GBE1 PYGL

Sources for Glycogen Storage Disease Iv

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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