GSD4
MCID: GLY007
MIFTS: 58

Glycogen Storage Disease Iv (GSD4)

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

Aliases & Classifications for Glycogen Storage Disease Iv

MalaCards integrated aliases for Glycogen Storage Disease Iv:

Name: Glycogen Storage Disease Iv 57 12 25 43 72 13 15
Glycogen Storage Disease Type Iv 25 43 36 54 44 70
Glycogen Branching Enzyme Deficiency 57 25 20 43 72
Andersen Disease 57 25 20 43 72
Amylopectinosis 57 12 20 43 72
Gsd Iv 57 25 20 43 72
Glycogen Storage Disease, Type Iv 12 29 6
Brancher Deficiency 57 20 43
Gsd4 57 43 72
Cirrhosis, Familial, with Deposition of Abnormal Glycogen 57 20
Glycogen Storage Disease Type 4 20 43
Gbe1 Deficiency 57 72
Glycogenosis Iv 57 72
Glycogenosis 4 20 43
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic and Myopathic Form 58
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form 58
Glycogenosis Due to Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic and Myopathic Form 58
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form 58
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form 58
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form 58
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form 58
Gsd Due to Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic and Myopathic Form 58
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form 58
Glycogenosis Due to Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form 58
Glycogenosis Due to Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form 58
Glycogenosis Due to Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form 58
Glycogenosis Due to Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form 58
Gsd Due to Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form 58
Glycogenosis Due to Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form 58
Glycogenosis Due to Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form 58
Glycogen Storage Disease Type Iv, Childhood Combined Hepatic and Myopathic Form 58
Gsd Due to Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form 58
Glycogen Storage Disease Type 4, Childhood Combined Hepatic and Myopathic Form 58
Gsd Due to Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form 58
Gsd Due to Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form 58
Gsd Due to Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form 58
Gsd Due to Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form 58
Glycogen Storage Disease Type Iv, Fatal Perinatal Neuromuscular Form 58
Glycogenosis Type Iv, Childhood Combined Hepatic and Myopathic Form 58
Glycogen Storage Disease Type 4, Fatal Perinatal Neuromuscular Form 58
Glycogenosis Type 4, Childhood Combined Hepatic and Myopathic Form 58
Glycogen Storage Disease Type Iv, Congenital Neuromuscular Form 58
Glycogen Storage Disease Type Iv, Childhood Neuromuscular Form 58
Glycogen Storage Disease Type 4, Congenital Neuromuscular Form 58
Glycogen Storage Disease Type Iv, Non Progressive Hepatic Form 58
Glycogen Storage Disease Type 4, Childhood Neuromuscular Form 58
Gbe Deficiency, Childhood Combined Hepatic and Myopathic Form 58
Glycogen Storage Disease Type 4, Non Progressive Hepatic Form 58
Glycogen Storage Disease Type Iv, Adult Neuromuscular Form 58
Glycogen Storage Disease Type Iv, Progressive Hepatic Form 58
Glycogen Storage Disease Type 4, Adult Neuromuscular Form 58
Gsd Type 4, Childhood Combined Hepatic and Myopathic Form 58
Glycogen Storage Disease Type 4, Progressive Hepatic Form 58
Glycogenosis Type Iv, Fatal Perinatal Neuromuscular Form 58
Glycogenosis Type 4, Fatal Perinatal Neuromuscular Form 58
Gsdiv, Childhood Combined Hepatic and Myopathic Form 58
Glycogenosis Type Iv, Congenital Neuromuscular Form 58
Glycogenosis Type Iv, Childhood Neuromuscular Form 58
Glycogenosis Type 4, Congenital Neuromuscular Form 58
Gbe Deficiency, Fatal Perinatal Neuromuscular Form 58
Glycogenosis Type Iv, Non Progressive Hepatic Form 58
Glycogenosis Type 4, Childhood Neuromuscular Form 58
Glycogenosis Type 4, Non Progressive Hepatic Form 58
Deficiency of 1,4-Alpha-Glucan Branching Enzyme 12
Glycogenosis Type Iv, Adult Neuromuscular Form 58
Gsd Type 4, Fatal Perinatal Neuromuscular Form 58
Glycogenosis Type Iv, Progressive Hepatic Form 58
Branching-Transferase Deficiency Glycogenosis 12
Glycogenosis Type 4, Adult Neuromuscular Form 58
Gbe Deficiency, Congenital Neuromuscular Form 58
Glycogenosis Type 4, Progressive Hepatic Form 58
Gbe Deficiency, Childhood Neuromuscular Form 58
Gbe Deficiency, Non Progressive Hepatic Form 58
Gsd Iv, Neuromuscular Form, Fatal Perinatal 6
Gsd Type 4, Congenital Neuromuscular Form 58
Gsdiv, Fatal Perinatal Neuromuscular Form 58
Gsd Type 4, Childhood Neuromuscular Form 58
Gbe Deficiency, Adult Neuromuscular Form 58
Gsd Type 4, Non Progressive Hepatic Form 58
Gbe Deficiency, Progressive Hepatic Form 58
Gsd Iv, Neuromuscular Form, Congenital 6
Gsd Iv, Neuromuscular Form, Childhood 6
Gsd Type 4, Adult Neuromuscular Form 58
Gsdiv, Congenital Neuromuscular Form 58
Gsd Type 4, Progressive Hepatic Form 58
Gsdiv, Childhood Neuromuscular Form 58
Gsdiv, Non Progressive Hepatic Form 58
Storage Disease, Glycogen, Type Iv 39
Brancher Deficiency Glycogenosis 12
Gsdiv, Adult Neuromuscular Form 58
Gsdiv, Progressive Hepatic Form 58
Branching Enzyme Deficiency 43
Glycogen Storage Disease 4 72
Andersen Glycogenosis 43
Glycogenosis, Type Iv 43
Glycogenosis Type Iv 73
Type Iv Glycogenosis 43
Andersen's Disease 43
Gsd Type Iv 43
Gsd-Iv 72
Gsd 4 20

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare hepatic diseases
Inborn errors of metabolism


Summaries for Glycogen Storage Disease Iv

MedlinePlus Genetics : 43 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.The fatal perinatal neuromuscular type is the most severe form of GSD IV, with signs developing before birth. Excess fluid may build up around the fetus (polyhydramnios) and in the fetus' body. Affected fetuses have a condition called fetal akinesia deformation sequence, which causes a decrease in fetal movement and can lead to joint stiffness (arthrogryposis) after birth. Infants with the fatal perinatal neuromuscular type of GSD IV have very low muscle tone (severe hypotonia) and muscle wasting (atrophy). These infants usually do not survive past the newborn period due to weakened heart and breathing muscles.The congenital muscular type of GSD IV is usually not evident before birth but develops in early infancy. Affected infants have severe hypotonia, which affects the muscles needed for breathing. These babies often have dilated cardiomyopathy, which enlarges and weakens the heart (cardiac) muscle, preventing the heart from pumping blood efficiently. Infants with the congenital muscular type of GSD IV typically survive only a few months.The progressive hepatic type is the most common form of GSD IV. Within the first months of life, affected infants have difficulty gaining weight and growing at the expected rate (failure to thrive) and develop an enlarged liver (hepatomegaly). Children with this type develop a form of liver disease called cirrhosis that often is irreversible. High blood pressure in the vein that supplies blood to the liver (portal hypertension) and an abnormal buildup of fluid in the abdominal cavity (ascites) can also occur. By age 1 or 2, affected children develop hypotonia. Children with the progressive hepatic type of GSD IV often die of liver failure in early childhood.The non-progressive hepatic type of GSD IV has many of the same features as the progressive hepatic type, but the liver disease is not as severe. In the non-progressive hepatic type, hepatomegaly and liver disease are usually evident in early childhood, but affected individuals typically do not develop cirrhosis. People with this type of the disorder can also have hypotonia and muscle weakness (myopathy). Most individuals with this type survive into adulthood, although life expectancy varies depending on the severity of the signs and symptoms.The childhood neuromuscular type of GSD IV develops in late childhood and is characterized by myopathy and dilated cardiomyopathy. The severity of this type of GSD IV varies greatly; some people have only mild muscle weakness while others have severe cardiomyopathy and die in early adulthood.

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 due to glucose-6-phosphatase deficiency, and has symptoms including 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 Shigellosis. The drug Pharmaceutical Solutions has been mentioned in the context of this disorder. Affiliated tissues include liver, heart and spleen, and related phenotypes are failure to thrive and muscle weakness

GARD : 20 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.

KEGG : 36 Glycogen storage disease type IV (GSD-IV), also known as Andersen disease, is an autosomal recessive disorder of glycogen metabolism. GSD-IV is caused by mutations in the GBE1 gene, which encodes the glycogen branching enzyme. The typical presentation is liver disease of childhood, progressing to lethal cirrhosis.

UniProtKB/Swiss-Prot : 72 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.

Wikipedia : 73 Glycogen storage disease type IV is a form of glycogen storage disease, which is caused by an inborn... more...

More information from OMIM: 232500
GeneReviews: NBK115333

Related Diseases for Glycogen Storage Disease Iv

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

(show top 50) (show all 69)
# Related Disease Score Top Affiliating Genes
1 polyglucosan body myopathy 1 with or without immunodeficiency 32.2 RNF31 RBCK1
2 glycogen storage disease due to glucose-6-phosphatase deficiency 30.5 GAA G6PC1
3 glycogen storage disease 30.3 RBCK1 GYS2 GYS1 GBE1 GAA G6PC1
4 glycogen storage disease iii 30.3 GYS1 GBE1 GAA G6PC1
5 glycogen storage disease ia 30.3 GYS1 GBE1 GAA G6PC1
6 hypoglycemia 30.1 GYS2 GYS1 G6PC1 CPT2
7 myoclonic epilepsy of lafora 29.4 RBCK1 PPP1R3C NHLRC1 GYS2 GYS1 GBE1
8 andersen cardiodysrhythmic periodic paralysis 11.1
9 polyhydramnios 10.5
10 dilated cardiomyopathy 10.4
11 liver disease 10.4
12 fetal akinesia deformation sequence 1 10.4
13 gbe1 adult polyglucosan body disease 10.4
14 polyglucosan body neuropathy, adult form 10.3
15 congenital amyoplasia 10.3
16 glycogen storage disease due to glycogen branching enzyme deficiency 10.2
17 progressive myoclonus epilepsy 10.1 NHLRC1 GYS1 GBE1
18 cirrhosis, familial 10.1
19 spinal muscular atrophy, type i 10.1
20 batten-turner congenital myopathy 10.1
21 hepatocellular adenoma 10.1
22 respiratory failure 10.1
23 spinal muscular atrophy 10.1
24 gout 10.1
25 gaucher's disease 10.1
26 lysosomal storage disease 10.1
27 arthropathy 10.1
28 neuromuscular disease 10.1
29 adenoma 10.1
30 muscular atrophy 10.1
31 neuroblastoma 10.1
32 skeletal muscle disease 10.1
33 glycogen storage disease v 10.1 GYS1 GBE1 GAA CPT2
34 pulmonary edema 10.1
35 neutropenia 10.1
36 hypotonia 10.1
37 carbohydrate metabolic disorder 10.1 GBE1 GAA G6PC1
38 glycogen storage disease type 0 10.1 GYS2 GYS1
39 incontinentia pigmenti 10.1 SHARPIN RNF31 RBCK1 IKBKG
40 hydrops fetalis, nonimmune 10.0
41 lymphatic malformation 7 10.0
42 autosomal recessive disease 10.0
43 portal hypertension 10.0
44 tricuspid valve insufficiency 10.0
45 splenomegaly 10.0
46 immune deficiency disease 10.0
47 tooth agenesis 10.0 SHARPIN RNF31 RBCK1 IKBKG
48 glycogen storage disease vi 10.0 GYS2 GYS1 GBE1 G6PC1
49 congestive heart failure 10.0
50 peritonitis 10.0

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

Human phenotypes related to Glycogen Storage Disease Iv:

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 HP:0001508
2 muscle weakness 31 HP:0001324
3 portal hypertension 31 HP:0001409
4 skeletal muscle atrophy 31 HP:0003202
5 ascites 31 HP:0001541
6 hydrops fetalis 31 HP:0001789
7 cirrhosis 31 HP:0001394
8 reduced tendon reflexes 31 HP:0001315
9 polyhydramnios 31 HP:0001561
10 decreased fetal movement 31 HP:0001558
11 hepatic failure 31 HP:0001399
12 esophageal varix 31 HP:0002040
13 arthrogryposis multiplex congenita 31 HP:0002804
14 cardiomyopathy 31 HP:0001638
15 generalized hypotonia 31 HP:0001290
16 hepatosplenomegaly 31 HP:0001433
17 edema 31 HP:0000969
18 tubulointerstitial fibrosis 31 HP:0005576
19 hypotonia 31 HP:0001252

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Other:
failure to thrive

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

Muscle Soft Tissue:
muscle weakness
muscle atrophy

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 Gastrointestinal:
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 (Updated 05-Apr-2021)

UMLS symptoms related to Glycogen Storage Disease Iv:


muscle weakness; hepatosplenomegaly

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

26 (show all 23)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-105 10 GZMM
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 10 ARIH1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-118 10 GZMM
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-125 10 GYS2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-126 10 ARIH1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-132 10 GYS2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-135 10 ARIH1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-137 10 GZMM
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-142 10 ARIH1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-149 10 GYS2
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-15 10 ARIH1
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-161 10 GYS2
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-198 10 GYS2
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-205 10 GYS2
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-29 10 GZMM
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-44 10 GZMM
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-46 10 GYS1
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-52 10 ARIH1
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 10 GZMM
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-57 10 ARIH1
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-93 10 ARIH1
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-96 10 GYS1
23 Resistant to vaccinia virus (VACV-A4L) infection GR00351-A-1 9.17 GBE1 GYS2 GZMM NHLRC1 PPP1R3C RBCK1

MGI Mouse Phenotypes related to Glycogen Storage Disease Iv:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.93 CPT2 GAA GBE1 GYS1 GYS2 IKBKG
2 cellular MP:0005384 9.7 G6PC1 GAA GBE1 GYS1 GYS2 IKBKG
3 liver/biliary system MP:0005370 9.32 G6PC1 GBE1 GYS1 GYS2 IKBKG IREB2

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 A Treatment Trial of Triheptanoin in Patients With Adult Polyglucosan Body Disease - A Randomized Controlled Study Completed NCT00947960 Phase 2 Triheptanoin
2 Database for Information on Individuals Affected With Glycogen Brancher Deficiency, Also Known as Glycogen Storage Disease Type IV Recruiting NCT02683512
3 Biomarker for Glycogen Storage Diseases - AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Active, not recruiting NCT02385162
4 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Active, not recruiting NCT02635269

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 29 GBE1

Anatomical Context for Glycogen Storage Disease Iv

MalaCards organs/tissues related to Glycogen Storage Disease Iv:

40
Liver, Heart, Spleen, Skeletal Muscle, Brain, Skin, Spinal Cord

Publications for Glycogen Storage Disease Iv

Articles related to Glycogen Storage Disease Iv:

(show top 50) (show all 159)
# Title Authors PMID Year
1
Non-lethal congenital hypotonia due to glycogen storage disease type IV. 61 54 57 6 25
16528737 2006
2
Fatal infantile neuromuscular presentation of glycogen storage disease type IV. 6 57 25 61 54
15019703 2004
3
Null mutations and lethal congenital form of glycogen storage disease type IV. 61 6 57 54
17662246 2007
4
Neuromuscular forms of glycogen branching enzyme deficiency. 6 57 54 61
17915577 2007
5
Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). 61 57 54 6
15452297 2004
6
Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene. 57 6 61 54
8613547 1996
7
The variable presentations of glycogen storage disease type IV: a review of clinical, enzymatic and molecular studies. 61 54 25 6
11949934 2002
8
Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease. 61 6 25 54
10762170 2000
9
Glycogen storage disease type IV presenting as hydrops fetalis. 6 61 57
10384399 1999
10
Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329Ser mutation in the glycogen-branching enzyme gene. 61 25 6 54
9851430 1998
11
Glycogen Storage Disease Type IV: A Case With Histopathologic Findings in First-Trimester Placental Tissue. 61 25 6
26166723 2016
12
Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations. 6 25 61
23218673 2013
13
Association of the congenital neuromuscular form of glycogen storage disease type IV with a large deletion and recurrent frameshift mutation. 6 61 25
21917543 2012
14
Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder. 6 25 61
20058079 2010
15
Non-lethal neonatal neuromuscular variant of glycogenosis type IV with novel GBE1 mutations. 6 61 25
19813197 2010
16
Neonatal hypotonia and cardiomyopathy secondary to type IV glycogenosis. 57 6
8059607 1994
17
Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease. 6 25
25665141 2015
18
A novel GBE1 mutation and features of polyglucosan bodies autophagy in adult polyglucosan body disease. 25 6
25544507 2015
19
Branching enzyme deficiency: expanding the clinical spectrum. 6 25
24248152 2014
20
Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings. 25 6
23034915 2012
21
Living Donor Liver Transplantation in a Korean Child with Glycogen Storage Disease Type IV and a GBE1 Mutation. 6 61 54
20479904 2009
22
A case of congenital glycogen storage disease type IV with a novel GBE1 mutation. 61 6 54
18230843 2008
23
Clinical and laboratory findings in four patients with the non-progressive hepatic form of type IV glycogen storage disease. 25 57
8830177 1996
24
Juvenile hereditary polyglucosan body disease with complete branching enzyme deficiency (type IV glycogenosis). 25 57
7683169 1993
25
A mild juvenile variant of type IV glycogenosis. 25 57
1375445 1992
26
Continuing lessons from glycogen storage diseases. 25 57
1984166 1991
27
Case of Neonatal Fatality from Neuromuscular Variant of Glycogen Storage Disease Type IV. 6 61
30311141 2019
28
A novel mouse model that recapitulates adult-onset glycogenosis type 4. 6 61
26385640 2015
29
Neonatal type IV glycogen storage disease associated with "null" mutations in glycogen branching enzyme 1. 6 54
15520786 2004
30
A neonatal form of glycogen storage disease type IV. 61 6
12913206 2003
31
A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy. 54 6
10545044 1999
32
Glycogen storage disease type IV, amylopectinosis. 61 57
5246692 1968
33
Clinical utility of a targeted next generation sequencing panel in severe and pediatric onset Mendelian diseases. 6
31319225 2019
34
Investigation of new candidate genes in retinoblastoma using the TruSight One "clinical exome" gene panel. 6
31207142 2019
35
Recessive gene disruptions in autism spectrum disorder. 6
31209396 2019
36
Analysis of GBE1 mutations via protein expression studies in glycogen storage disease type IV: A report on a non-progressive form with a literature review. 25 61
30228975 2018
37
Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases. 6
30293248 2018
38
A Case of Glycogen Storage Disease IV with Rare Homozygous Mutations in the Glycogen Branching Enzyme Gene. 61 25
30345254 2018
39
Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management. 6
28973083 2017
40
New genetic causes for complex hereditary spastic paraplegia. 6
28716262 2017
41
Glycogen Storage Disease Type IV and Early Implantation Defect: Early Trophoblastic Involvement Associated with a New GBE1 Mutation. 61 25
25489661 2016
42
A novel GBE1 gene variant in a child with glycogen storage disease type IV. 61 25
27107456 2016
43
Utility of a next-generation sequencing-based gene panel investigation in German patients with genetically unclassified limb-girdle muscular dystrophy. 6
26886200 2016
44
Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design. 6
26199317 2015
45
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 6
25525159 2015
46
Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia. 6
25133958 2014
47
First fully laparoscopic donor hepatectomy for pediatric liver transplantation using the indocyanine green near-infrared fluorescence imaging in the Middle East: a case report. 61 25
25811211 2014
48
Polyglucosan neurotoxicity caused by glycogen branching enzyme deficiency can be reversed by inhibition of glycogen synthase. 6
23607684 2013
49
Personalized genomic disease risk of volunteers. 6
24082139 2013
50
Abnormal glycogen in astrocytes is sufficient to cause adult polyglucosan body disease. 6
23266647 2013

Variations for Glycogen Storage Disease Iv

ClinVar genetic disease variations for Glycogen Storage Disease Iv:

6 (show top 50) (show all 233)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GBE1 NM_000158.4(GBE1):c.783-1G>A SNV Pathogenic 2776 rs397515342 GRCh37: 3:81692142-81692142
GRCh38: 3:81642991-81642991
2 GBE1 GBE1, 253-BP DEL Deletion Pathogenic 2787 GRCh37:
GRCh38:
3 GBE1 NM_000158.4(GBE1):c.708G>C (p.Gln236His) SNV Pathogenic 2790 rs137852892 GRCh37: 3:81695617-81695617
GRCh38: 3:81646466-81646466
4 GBE1 NM_000158.4(GBE1):c.1543C>T (p.Arg515Cys) SNV Pathogenic 2779 rs80338672 GRCh37: 3:81627151-81627151
GRCh38: 3:81578000-81578000
5 GBE1 NM_000158.3(GBE1):c.993-?_1618+?del Deletion Pathogenic 2783 GRCh37: 3:81586246-81691932
GRCh38: 3:81537095-81642781
6 GBE1 NM_000158.4(GBE1):c.1774G>T (p.Glu592Ter) SNV Pathogenic 2786 rs137852890 GRCh37: 3:81586091-81586091
GRCh38: 3:81536940-81536940
7 GBE1 NM_000158.4(GBE1):c.691+5G>C SNV Pathogenic 2792 rs397515344 GRCh37: 3:81698002-81698002
GRCh38: 3:81648851-81648851
8 GBE1 NM_000158.4(GBE1):c.1643G>A (p.Trp548Ter) SNV Pathogenic 2793 rs137852894 GRCh37: 3:81586222-81586222
GRCh38: 3:81537071-81537071
9 GBE1 NM_000158.4(GBE1):c.1543C>T (p.Arg515Cys) SNV Pathogenic 2779 rs80338672 GRCh37: 3:81627151-81627151
GRCh38: 3:81578000-81578000
10 GBE1 NM_000158.4(GBE1):c.1571G>A (p.Arg524Gln) SNV Pathogenic 2782 rs80338673 GRCh37: 3:81627123-81627123
GRCh38: 3:81577972-81577972
11 GBE1 NM_000158.4(GBE1):c.1643G>A (p.Trp548Ter) SNV Pathogenic 2793 rs137852894 GRCh37: 3:81586222-81586222
GRCh38: 3:81537071-81537071
12 GBE1 NM_000158.4(GBE1):c.1774G>T (p.Glu592Ter) SNV Pathogenic 2786 rs137852890 GRCh37: 3:81586091-81586091
GRCh38: 3:81536940-81536940
13 GBE1 NM_000158.4(GBE1):c.691+5G>C SNV Pathogenic 2792 rs397515344 GRCh37: 3:81698002-81698002
GRCh38: 3:81648851-81648851
14 GBE1 NM_000158.3(GBE1):c.993-?_1618+?del Deletion Pathogenic 2783 GRCh37: 3:81586246-81691932
GRCh38: 3:81537095-81642781
15 GBE1 NM_000158.4(GBE1):c.288del (p.Gly97fs) Deletion Pathogenic 371491 rs1057517315 GRCh37: 3:81754620-81754620
GRCh38: 3:81705469-81705469
16 GBE1 NM_000158.4(GBE1):c.415G>T (p.Gly139Ter) SNV Pathogenic 435291 rs1553690406 GRCh37: 3:81720003-81720003
GRCh38: 3:81670852-81670852
17 GBE1 NM_000158.4(GBE1):c.993-1G>T SNV Pathogenic 478912 rs763016962 GRCh37: 3:81643175-81643175
GRCh38: 3:81594024-81594024
18 RBCK1 NM_031229.4(RBCK1):c.1112G>T (p.Cys371Phe) SNV Pathogenic 430898 rs1555787599 GRCh37: 20:408039-408039
GRCh38: 20:427395-427395
19 GBE1 NM_000158.4(GBE1):c.288del (p.Gly97fs) Deletion Pathogenic 371491 rs1057517315 GRCh37: 3:81754620-81754620
GRCh38: 3:81705469-81705469
20 GBE1 NC_000003.12:g.(?_81761375)_(81761517_?)del Deletion Pathogenic 583853 GRCh37: 3:81810526-81810668
GRCh38: 3:81761375-81761517
21 GBE1 NC_000003.12:g.(?_81490387)_(81761537_?)del Deletion Pathogenic 649642 GRCh37: 3:81539538-81810688
GRCh38: 3:81490387-81761537
22 GBE1 NM_000158.4(GBE1):c.1909C>T (p.Arg637Ter) SNV Pathogenic 346785 rs766935302 GRCh37: 3:81584371-81584371
GRCh38: 3:81535220-81535220
23 GBE1 NC_000003.12:g.(?_81499090)_(81761537_?)del Deletion Pathogenic 658997 GRCh37: 3:81548241-81810688
GRCh38: 3:81499090-81761537
24 GBE1 NM_000158.4(GBE1):c.1861_1863CTT[1] (p.Leu622del) Microsatellite Pathogenic 816842 rs1576137368 GRCh37: 3:81584414-81584416
GRCh38: 3:81535263-81535265
25 GBE1 NC_000003.12:g.(?_81591027)_(81594033_?)del Deletion Pathogenic 830797 GRCh37: 3:81640178-81643184
GRCh38:
26 GBE1 NC_000003.12:g.(?_81642771)_(81643000_?)del Deletion Pathogenic 831402 GRCh37: 3:81691922-81692151
GRCh38:
27 GBE1 NC_000003.12:g.(?_81642771)_(81670963_?)del Deletion Pathogenic 832400 GRCh37: 3:81691922-81720114
GRCh38:
28 GBE1 NC_000003.12:g.(?_81490397)_(81761527_?)del Deletion Pathogenic 832626 GRCh37: 3:81539548-81810678
GRCh38:
29 GBE1 NC_000003.12:g.(?_81646382)_(81670963_?)del Deletion Pathogenic 833175 GRCh37: 3:81695533-81720114
GRCh38:
30 GBE1 NM_000158.4(GBE1):c.1386C>G (p.Tyr462Ter) SNV Pathogenic 834756 GRCh37: 3:81630376-81630376
GRCh38: 3:81581225-81581225
31 GBE1 NM_000158.4(GBE1):c.1300C>T (p.Arg434Ter) SNV Pathogenic 836518 GRCh37: 3:81635278-81635278
GRCh38: 3:81586127-81586127
32 GBE1 NM_000158.4(GBE1):c.1571G>A (p.Arg524Gln) SNV Pathogenic 2782 rs80338673 GRCh37: 3:81627123-81627123
GRCh38: 3:81577972-81577972
33 GBE1 NM_000158.4(GBE1):c.671T>C (p.Leu224Pro) SNV Pathogenic 2778 rs137852886 GRCh37: 3:81698027-81698027
GRCh38: 3:81648876-81648876
34 GBE1 NM_000158.4(GBE1):c.202_203del (p.Lys68fs) Deletion Pathogenic 849345 GRCh37: 3:81754705-81754706
GRCh38: 3:81705554-81705555
35 GBE1 NM_000158.4(GBE1):c.1245_1258del (p.Gly416fs) Deletion Pathogenic 862675 GRCh37: 3:81635320-81635333
GRCh38: 3:81586169-81586182
36 GBE1 NM_000158.4(GBE1):c.1788G>A (p.Trp596Ter) SNV Pathogenic 952547 GRCh37: 3:81586077-81586077
GRCh38: 3:81536926-81536926
37 GBE1 NM_000158.4(GBE1):c.336C>A (p.Tyr112Ter) SNV Pathogenic 952612 GRCh37: 3:81720082-81720082
GRCh38: 3:81670931-81670931
38 GBE1 NM_000158.4(GBE1):c.70del (p.Asp24fs) Deletion Pathogenic 972014 GRCh37: 3:81810599-81810599
GRCh38: 3:81761448-81761448
39 GBE1 NM_000158.4(GBE1):c.1909C>T (p.Arg637Ter) SNV Pathogenic 346785 rs766935302 GRCh37: 3:81584371-81584371
GRCh38: 3:81535220-81535220
40 GBE1 NM_000158.4(GBE1):c.784C>T (p.Arg262Cys) SNV Pathogenic 2791 rs137852893 GRCh37: 3:81692140-81692140
GRCh38: 3:81642989-81642989
41 GBE1 NM_000158.4(GBE1):c.143+1G>A SNV Pathogenic 2784 rs397515343 GRCh37: 3:81810525-81810525
GRCh38: 3:81761374-81761374
42 GBE1 NM_000158.4(GBE1):c.1634A>G (p.His545Arg) SNV Pathogenic 2785 rs137852889 GRCh37: 3:81586231-81586231
GRCh38: 3:81537080-81537080
43 GBE1 NM_000158.4(GBE1):c.143+1G>A SNV Pathogenic 2784 rs397515343 GRCh37: 3:81810525-81810525
GRCh38: 3:81761374-81761374
44 GBE1 NM_000158.4(GBE1):c.1634A>G (p.His545Arg) SNV Pathogenic 2785 rs137852889 GRCh37: 3:81586231-81586231
GRCh38: 3:81537080-81537080
45 GBE1 NM_000158.4(GBE1):c.771T>A (p.Phe257Leu) SNV Pathogenic 2780 rs137852887 GRCh37: 3:81695554-81695554
GRCh38: 3:81646403-81646403
46 GBE1 NM_000158.4(GBE1):c.771T>A (p.Phe257Leu) SNV Pathogenic 2780 rs137852887 GRCh37: 3:81695554-81695554
GRCh38: 3:81646403-81646403
47 GBE1 NM_000158.4(GBE1):c.1544G>A (p.Arg515His) SNV Pathogenic 180651 rs201958741 GRCh37: 3:81627150-81627150
GRCh38: 3:81577999-81577999
48 GBE1 NM_000158.4(GBE1):c.1883A>G (p.His628Arg) SNV Pathogenic 2788 rs137852891 GRCh37: 3:81584397-81584397
GRCh38: 3:81535246-81535246
49 GBE1 NM_000158.4(GBE1):c.1570C>T (p.Arg524Ter) SNV Pathogenic 2781 rs137852888 GRCh37: 3:81627124-81627124
GRCh38: 3:81577973-81577973
50 GBE1 NM_000158.4(GBE1):c.1570C>T (p.Arg524Ter) SNV Pathogenic 2781 rs137852888 GRCh37: 3:81627124-81627124
GRCh38: 3:81577973-81577973

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

72
# 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

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:

(show all 11)
# Super pathways Score Top Affiliating Genes
1 12.15 SHARPIN RNF31 RBCK1 IKBKG
2
Show member pathways
12.13 PPP1R3C NHLRC1 GYS2 GYS1 GBE1 GAA
3 11.99 SHARPIN RNF31 RBCK1 IKBKG
4
Show member pathways
11.99 SHARPIN RNF31 RBCK1 OTULIN IKBKG
5
Show member pathways
11.98 PPP1R3C NHLRC1 GYS2 GYS1 GBE1 GAA
6 11.7 GYS2 GYS1 G6PC1
7
Show member pathways
11.66 PPP1R3C GYS2 GYS1 G6PC1
8
Show member pathways
11.64 GYS2 GYS1 GBE1 GAA G6PC1
9
Show member pathways
11.62 PPP1R3C GYS2 GYS1
10 11.14 GYS2 GYS1 GBE1
11
Show member pathways
11.02 PPP1R3C GYS2 GYS1

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 cytosol GO:0005829 10 UBE2L3 SHARPIN RNF31 RBCK1 PPP1R3C PHF20
2 ubiquitin ligase complex GO:0000151 9.35 UBE2L3 SHARPIN RBCK1 IKBKG ARIH1
3 LUBAC complex GO:0071797 8.92 SHARPIN RNF31 RBCK1 OTULIN

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 protein ubiquitination GO:0016567 9.89 UBE2L3 RNF31 OTULIN NHLRC1 ARIH1
2 protein polyubiquitination GO:0000209 9.77 UBE2L3 RNF31 RBCK1 NHLRC1 ARIH1
3 carbohydrate metabolic process GO:0005975 9.76 PPP1R3C GBE1 GAA CHIT1
4 metabolic process GO:0008152 9.73 GYS2 GYS1 GAA CHIT1
5 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.71 SHARPIN RNF31 RBCK1 IKBKG
6 I-kappaB kinase/NF-kappaB signaling GO:0007249 9.62 SHARPIN RNF31 RBCK1 IKBKG
7 regulation of tumor necrosis factor-mediated signaling pathway GO:0010803 9.55 SHARPIN RNF31 RBCK1 OTULIN IKBKG
8 glycogen catabolic process GO:0005980 9.48 GAA G6PC1
9 protein linear polyubiquitination GO:0097039 9.43 SHARPIN RNF31 RBCK1
10 glycogen biosynthetic process GO:0005978 9.35 PPP1R3C NHLRC1 GYS2 GYS1 GBE1
11 glycogen metabolic process GO:0005977 9.1 PPP1R3C NHLRC1 GYS1 GBE1 GAA G6PC1

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

# Name GO ID Score Top Affiliating Genes
1 ubiquitin protein ligase binding GO:0031625 9.73 UBE2L3 RNF31 IKBKG ARIH1
2 transferase activity, transferring glycosyl groups GO:0016757 9.67 GYS2 GYS1 GBE1 GALNT9
3 transferase activity GO:0016740 9.65 UBE2L3 RNF31 RBCK1 NHLRC1 GYS2 GYS1
4 ubiquitin binding GO:0043130 9.58 SHARPIN RNF31 RBCK1
5 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.5 GBE1 GAA CHIT1
6 glycogen (starch) synthase activity GO:0004373 9.26 GYS2 GYS1
7 glycogen synthase activity, transferring glucose-1-phosphate GO:0061547 9.16 GYS2 GYS1
8 ubiquitin-protein transferase activity GO:0004842 9.1 UBE2L3 SHARPIN RNF31 RBCK1 NHLRC1 ARIH1

Sources for Glycogen Storage Disease Iv

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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