GSD4
MCID: GLY007
MIFTS: 64

Glycogen Storage Disease Iv (GSD4)

Categories: Blood diseases, Bone diseases, Cardiovascular diseases, Endocrine diseases, Genetic diseases, Liver diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Glycogen Storage Disease Iv

MalaCards integrated aliases for Glycogen Storage Disease Iv:

Name: Glycogen Storage Disease Iv 57 11 24 42 73 12 14
Glycogen Storage Disease Type Iv 24 42 53 43 71 75
Glycogen Branching Enzyme Deficiency 57 24 19 42 73
Andersen Disease 57 24 19 42 73
Amylopectinosis 57 11 19 42 73
Gsd Iv 57 24 19 42 73
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form 58 28 5
Glycogen Storage Disease, Type Iv 11 28 5
Brancher Deficiency 57 19 42
Gsd4 57 42 73
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form 58 5
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form 58 5
Potassium-Sensitive Periodic Paralysis, Ventricular Ectopy, and Dysmorphic Features 19 5
Cirrhosis, Familial, with Deposition of Abnormal Glycogen 57 19
Glycogen Storage Disease Type 4 19 42
Andersen's Disease 42 75
Gbe1 Deficiency 57 73
Glycogenosis Iv 57 73
Glycogenosis 4 19 42
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic and Myopathic 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, 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
Periodic Paralysis, Potassium-Sensitive Cardiodysrhythmic Type 19
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 11
Glycogenosis Type Iv, Adult Neuromuscular Form 58
Gsd Type 4, Fatal Perinatal Neuromuscular Form 58
Glycogenosis Type Iv, Progressive Hepatic Form 58
Andersen Cardiodysrhythmic Periodic Paralysis 19
Branching-Transferase Deficiency Glycogenosis 11
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 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 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 38
Brancher Deficiency Glycogenosis 11
Gsdiv, Adult Neuromuscular Form 58
Gsdiv, Progressive Hepatic Form 58
Branching Enzyme Deficiency 42
Glycogen Storage Disease 4 73
Andersen-Tawil Syndrome 19
Andersen Glycogenosis 42
Glycogenosis, Type Iv 42
Type Iv Glycogenosis 42
Long Qt Syndrome 7 19
Gsd Type Iv 42
Gsd-Iv 73
Gsd 4 19
Lqt7 19

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
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


Classifications:

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


Summaries for Glycogen Storage Disease Iv

MedlinePlus Genetics: 42 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 familial periodic paralysis and polyglucosan body myopathy 1 with or without immunodeficiency, 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 Signal Transduction and Toll-like receptor signaling pathway. The drugs Acetazolamide and Carbonic Anhydrase Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and spleen, and related phenotypes are failure to thrive and hypotonia

OMIM®: 57 Glycogen storage disease IV (GSD4) is a clinically heterogeneous disorder. The typical 'classic' hepatic presentation is liver disease of childhood, progressing to lethal cirrhosis. The neuromuscular presentation of GSD IV is distinguished by age at onset into 4 groups: perinatal, presenting as fetal akinesia deformation sequence (FADS) and perinatal death; congenital, with hypotonia, neuronal involvement, and death in early infancy; childhood, with myopathy or cardiomyopathy; and adult, with isolated myopathy or adult polyglucosan body disease (Bruno et al., 2004). The enzyme deficiency results in tissue accumulation of abnormal glycogen with fewer branching points and longer outer branches, resembling an amylopectin-like structure, also known as polyglucosan (Tay et al., 2004). Bruno et al. (2007) provided a review of the neuromuscular forms of glycogen branching enzyme deficiency. (232500) (Updated 08-Dec-2022)

GARD: 19 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 genetic changes in the GBE1 gene and is inherited in an autosomal recessive manner.

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology: 11 A glycogen storage disease that has material basis in homozygous or compound heterozygous mutation in the GBE1 gene, which encodes the glycogen branching enzyme, on chromosome 3p12.

Wikipedia: 75 Glycogen storage disease type IV (GSD IV), or Andersen's Disease, is a form of glycogen storage disease,... more...

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 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 142)
# Related Disease Score Top Affiliating Genes
1 familial periodic paralysis 32.7 KCNJ2 DCAF8
2 polyglucosan body myopathy 1 with or without immunodeficiency 32.6 RNF31 RBCK1
3 glycogen storage disease 31.1 GBE1 GAA G6PC1 CPT2
4 glycogen storage disease due to glycogen branching enzyme deficiency 30.9 RBCK1 GBE1 GAA
5 glycogen storage disease iii 30.8 GBE1 GAA G6PC1 DCAF8
6 glycogen storage disease ia 30.6 GBE1 GAA G6PC1
7 progressive myoclonus epilepsy 30.2 RBCK1 NHLRC1 GBE1 DCAF8
8 myoclonic epilepsy of lafora 30.2 RBCK1 NHLRC1 GBE1 DCAF8
9 andersen cardiodysrhythmic periodic paralysis 11.8
10 cardiac arrhythmia, ankyrin-b-related 11.3
11 long qt syndrome 3 11.3
12 long qt syndrome 10 11.3
13 long qt syndrome 11 11.3
14 long qt syndrome 2 11.3
15 long qt syndrome 6 11.3
16 long qt syndrome 5 11.3
17 polyglucosan body neuropathy, adult form 11.3
18 bidirectional tachycardia 10.8
19 syncope 10.8
20 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.7
21 alport syndrome 1, x-linked 10.7
22 long qt syndrome 10.7
23 hypokalemia 10.7
24 catecholaminergic polymorphic ventricular tachycardia 10.6
25 hypertelorism 10.5
26 myopathy 10.5
27 liver disease 10.5
28 polyhydramnios 10.5
29 chromosome 2q35 duplication syndrome 10.5
30 familial long qt syndrome 10.5
31 hypokalemic periodic paralysis, type 1 10.4
32 graves disease 1 10.4
33 ventricular fibrillation, paroxysmal familial, 1 10.4
34 scoliosis 10.4
35 cardiac arrest 10.4
36 hyperthyroidism 10.4
37 fetal akinesia deformation sequence 1 10.4
38 gbe1 adult polyglucosan body disease 10.4
39 short qt syndrome 3 10.3
40 periodic paralysis 10.3
41 plexopathy 10.3 GBE1 DCAF8
42 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 10.3
43 dilated cardiomyopathy 10.3
44 children's interstitial lung disease 10.3
45 thyrotoxic periodic paralysis 10.3
46 familial cold autoinflammatory syndrome 4 10.3 RBCK1 OTULIN
47 glycogen storage disease v 10.3 GBE1 GAA CPT2
48 immunodeficiency 57 with autoinflammation 10.3 RNF31 RBCK1 OTULIN
49 immunodeficiency 11 10.3 RNF31 RBCK1
50 clear cell adenoma 10.3 SHARPIN RNF31 PHF20

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:

30 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 30 HP:0001508
2 hypotonia 30 HP:0001252
3 muscle weakness 30 HP:0001324
4 portal hypertension 30 HP:0001409
5 skeletal muscle atrophy 30 HP:0003202
6 ascites 30 HP:0001541
7 hydrops fetalis 30 HP:0001789
8 cirrhosis 30 HP:0001394
9 reduced tendon reflexes 30 HP:0001315
10 polyhydramnios 30 HP:0001561
11 decreased fetal movement 30 HP:0001558
12 hepatic failure 30 HP:0001399
13 esophageal varix 30 HP:0002040
14 arthrogryposis multiplex congenita 30 HP:0002804
15 cardiomyopathy 30 HP:0001638
16 generalized hypotonia 30 HP:0001290
17 hepatosplenomegaly 30 HP:0001433
18 edema 30 HP:0000969
19 tubulointerstitial fibrosis 30 HP:0005576

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Growth Other:
failure to thrive

Muscle Soft Tissue:
muscle weakness
muscle atrophy

Abdomen:
ascites

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)

Neurologic Central Nervous System:
hypotonia

Abdomen Liver:
portal hypertension
cirrhosis
hepatosplenomegaly
liver biopsy shows diffuse interstitial fibrosis
enlarged hepatocytes with periodic acid-schiff-positive, diastase-resistant inclusions
more
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 08-Dec-2022)

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:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.11 CPT2 CYLD DCAF8 G6PC1 GAA GBE1
2 no effect GR00402-S-2 10.11 DCAF8 G6PC1 GAA GBE1 GZMM IKBKG

MGI Mouse Phenotypes related to Glycogen Storage Disease Iv:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.25 CPT2 CYLD DCAF8 G6PC1 GAA GBE1
2 growth/size/body region MP:0005378 10.22 CYLD DCAF8 G6PC1 GAA IKBKG KCNJ2
3 liver/biliary system MP:0005370 10.16 DCAF8 G6PC1 GAA GBE1 IKBKG IREB2
4 cellular MP:0005384 10.15 CYLD DCAF8 G6PC1 GAA GBE1 IKBKG
5 cardiovascular system MP:0005385 10.1 CPT2 DCAF8 GAA GBE1 IKBKG IREB2
6 immune system MP:0005387 10.03 CPT2 CYLD DCAF8 GZMM IKBKG IREB2
7 respiratory system MP:0005388 9.7 CPT2 CYLD DCAF8 GBE1 KCNJ2 SHARPIN
8 skeleton MP:0005390 9.61 CPT2 G6PC1 GAA IREB2 KCNJ2 OTULIN
9 mortality/aging MP:0010768 9.44 CPT2 CYLD G6PC1 GBE1 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
Acetazolamide Approved, Vet_approved Phase 1 59-66-5, 1424-27-7 1986
2 Carbonic Anhydrase Inhibitors Phase 1
3 Anticonvulsants Phase 1
4 diuretics Phase 1
5 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 Therapeutic Trial of Potassium and Acetazolamide in Andersen-Tawil Syndrome Terminated NCT00839501 Phase 1 Acetazolamide
3 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Unknown status NCT02635269
4 Andersen-Tawil Syndrome: Genotype-Phenotype Correlation and Longitudinal Study Completed NCT00521794
5 GBE Deficiency (GSD IV and APBD) Natural History Study Recruiting NCT02683512
6 Biomarker for Glycogen Storage Diseases - AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Active, not 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
2 Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form 28

Anatomical Context for Glycogen Storage Disease Iv

Organs/tissues related to Glycogen Storage Disease Iv:

MalaCards : Liver, Heart, Spleen, Skeletal Muscle, Kidney, Spinal Cord, Retina
ODiseA: Kidney

Publications for Glycogen Storage Disease Iv

Articles related to Glycogen Storage Disease Iv:

(show top 50) (show all 518)
# Title Authors PMID Year
1
Non-lethal congenital hypotonia due to glycogen storage disease type IV. 53 62 24 57 5
16528737 2006
2
Fatal infantile neuromuscular presentation of glycogen storage disease type IV. 53 62 24 57 5
15019703 2004
3
Null mutations and lethal congenital form of glycogen storage disease type IV. 53 62 57 5
17662246 2007
4
Neuromuscular forms of glycogen branching enzyme deficiency. 53 62 57 5
17915577 2007
5
Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). 53 62 57 5
15452297 2004
6
Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene. 53 62 57 5
8613547 1996
7
The variable presentations of glycogen storage disease type IV: a review of clinical, enzymatic and molecular studies. 53 62 24 5
11949934 2002
8
Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease. 53 62 24 5
10762170 2000
9
Glycogen storage disease type IV presenting as hydrops fetalis. 62 57 5
10384399 1999
10
Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329Ser mutation in the glycogen-branching enzyme gene. 53 62 24 5
9851430 1998
11
Neonatal hypotonia and cardiomyopathy secondary to type IV glycogenosis. 62 57 5
8059607 1994
12
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. 62 24 5
30228975 2018
13
A Case of Glycogen Storage Disease IV with Rare Homozygous Mutations in the Glycogen Branching Enzyme Gene. 62 24 5
30345254 2018
14
Glycogen Storage Disease Type IV: A Case With Histopathologic Findings in First-Trimester Placental Tissue. 62 24 5
26166723 2016
15
Branching enzyme deficiency: expanding the clinical spectrum. 62 24 5
24248152 2014
16
Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations. 62 24 5
23218673 2013
17
Diffuse reticuloendothelial system involvement in type IV glycogen storage disease with a novel GBE1 mutation: a case report and review. 62 24 5
22305237 2012
18
Association of the congenital neuromuscular form of glycogen storage disease type IV with a large deletion and recurrent frameshift mutation. 62 24 5
21917543 2012
19
Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder. 62 24 5
20058079 2010
20
Non-lethal neonatal neuromuscular variant of glycogenosis type IV with novel GBE1 mutations. 62 24 5
19813197 2010
21
Clinical and laboratory findings in four patients with the non-progressive hepatic form of type IV glycogen storage disease. 62 24 57
8830177 1996
22
Juvenile hereditary polyglucosan body disease with complete branching enzyme deficiency (type IV glycogenosis). 62 24 57
7683169 1993
23
A mild juvenile variant of type IV glycogenosis. 62 24 57
1375445 1992
24
Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease. 24 5
25665141 2015
25
A novel GBE1 mutation and features of polyglucosan bodies autophagy in adult polyglucosan body disease. 24 5
25544507 2015
26
Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings. 24 5
23034915 2012
27
Living Donor Liver Transplantation in a Korean Child with Glycogen Storage Disease Type IV and a GBE1 Mutation. 53 62 5
20479904 2009
28
Congenital type IV glycogenosis: the spectrum of pleomorphic polyglucosan bodies in muscle, nerve, and spinal cord with two novel mutations in the GBE1 gene. 53 62 5
18661138 2008
29
A case of congenital glycogen storage disease type IV with a novel GBE1 mutation. 53 62 5
18230843 2008
30
Prenatal diagnosis of glycogen storage disease type IV. 53 62 5
16874838 2006
31
Neonatal type IV glycogen storage disease associated with "null" mutations in glycogen branching enzyme 1. 53 62 5
15520786 2004
32
A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy. 53 62 5
10545044 1999
33
Continuing lessons from glycogen storage diseases. 24 57
1984166 1991
34
The potential of dietary treatment in patients with glycogen storage disease type IV. 62 5
33332610 2021
35
Short-term response to phenytoin sodium in Andersen-Tawil syndrome-1 with a cardiac-dominant phenotype. 62 5
30516834 2019
36
Glycogen Storage Disease Type IV: A Rare Cause for Neuromuscular Disorders or Often Missed? 62 5
30569318 2019
37
Case of Neonatal Fatality from Neuromuscular Variant of Glycogen Storage Disease Type IV. 62 5
30311141 2019
38
Prevalence and mutation spectrum of skeletal muscle channelopathies in the Netherlands. 62 5
29606556 2018
39
Variable clinical presentation of glycogen storage disease type IV: from severe hepatosplenomegaly to cardiac insufficiency. Some discrepancies in genetic and biochemical abnormalities. 62 5
29379554 2018
40
Clinical features and long exercise test in Chinese patients with Andersen-Tawil syndrome. 62 5
27145478 2016
41
A novel neuromuscular form of glycogen storage disease type IV with arthrogryposis, spinal stiffness and rare polyglucosan bodies in muscle. 62 5
27546458 2016
42
A novel mouse model that recapitulates adult-onset glycogenosis type 4. 62 5
26385640 2015
43
Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies. 62 5
26147564 2015
44
Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design. 62 5
26199317 2015
45
Andersen-Tawil syndrome: report of 3 novel mutations and high risk of symptomatic cardiac involvement. 62 5
24861851 2015
46
A case of Andersen-Tawil syndrome presenting periodic paralysis exacerbated by acetazolamide. 62 5
25284084 2014
47
Andersen-Tawil syndrome: clinical and molecular aspects. 62 5
24383070 2013
48
Cardiac characteristics and long-term outcome in Andersen-Tawil syndrome patients related to KCNJ2 mutation. 62 5
23867365 2013
49
Polyglucosan neurotoxicity caused by glycogen branching enzyme deficiency can be reversed by inhibition of glycogen synthase. 62 5
23607684 2013
50
Non dominant-negative KCNJ2 gene mutations leading to Andersen-Tawil syndrome with an isolated cardiac phenotype. 62 5
23644778 2013

Variations for Glycogen Storage Disease Iv

ClinVar genetic disease variations for Glycogen Storage Disease Iv:

5 (show top 50) (show all 856)
# 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 NM_000158.4(GBE1):c.1634A>G (p.His545Arg) SNV Pathogenic
Pathogenic
2785 rs137852889 GRCh37: 3:81586231-81586231
GRCh38: 3:81537080-81537080
3 GBE1 NM_000158.4(GBE1):c.1774G>T (p.Glu592Ter) SNV Pathogenic
Pathogenic
2786 rs137852890 GRCh37: 3:81586091-81586091
GRCh38: 3:81536940-81536940
4 GBE1 NM_000158.4(GBE1):c.784C>T (p.Arg262Cys) SNV Pathogenic
Uncertain Significance
2791 rs137852893 GRCh37: 3:81692140-81692140
GRCh38: 3:81642989-81642989
5 GBE1 NM_000158.4(GBE1):c.691+5G>C SNV Pathogenic
Pathogenic
2792 rs397515344 GRCh37: 3:81698002-81698002
GRCh38: 3:81648851-81648851
6 GBE1 NM_000158.4(GBE1):c.1643G>A (p.Trp548Ter) SNV Pathogenic
Pathogenic
2793 rs137852894 GRCh37: 3:81586222-81586222
GRCh38: 3:81537071-81537071
7 KCNJ2 NM_000891.3(KCNJ2):c.161G>T (p.Cys54Phe) SNV Pathogenic
30119 rs199473650 GRCh37: 17:68171341-68171341
GRCh38: 17:70175200-70175200
8 GBE1 NM_000158.4(GBE1):c.1861CTT[1] (p.Leu622del) MICROSAT Pathogenic
816842 rs1576137368 GRCh37: 3:81584414-81584416
GRCh38: 3:81535263-81535265
9 GBE1 NM_000158.4(GBE1):c.993-1G>T SNV Pathogenic
478912 rs763016962 GRCh37: 3:81643175-81643175
GRCh38: 3:81594024-81594024
10 GBE1 NM_000158.4(GBE1):c.998A>T (p.Glu333Val) SNV Pathogenic
520679 rs1553684545 GRCh37: 3:81643169-81643169
GRCh38: 3:81594018-81594018
11 KCNJ2 NM_000891.3(KCNJ2):c.578T>C (p.Leu193Pro) SNV Pathogenic
932125 rs1555603955 GRCh37: 17:68171758-68171758
GRCh38: 17:70175617-70175617
12 KCNJ2 NM_000891.3(KCNJ2):c.-217+1029_422del DEL Pathogenic
946743 GRCh37: 17:68166871-68171602
GRCh38: 17:70170730-70175461
13 GBE1 NM_000158.4(GBE1):c.476C>T (p.Pro159Leu) SNV Pathogenic
1332747 GRCh37: 3:81699026-81699026
GRCh38: 3:81649875-81649875
14 GBE1 NM_000158.4(GBE1):c.1825G>T (p.Glu609Ter) SNV Pathogenic
1341385 GRCh37: 3:81584455-81584455
GRCh38: 3:81535304-81535304
15 KCNJ2 NC_000017.10:g.(?_68166871)_68171602del DEL Pathogenic
1073745 GRCh37:
GRCh38:
16 KCNJ2 NM_000891.3(KCNJ2):c.1177G>T (p.Gly393Ter) SNV Pathogenic
638351 rs1598211614 GRCh37: 17:68172357-68172357
GRCh38: 17:70176216-70176216
17 GBE1 NM_000158.4(GBE1):c.1064G>A (p.Arg355His) SNV Pathogenic
224994 rs869312919 GRCh37: 3:81643103-81643103
GRCh38: 3:81593952-81593952
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.415G>T (p.Gly139Ter) SNV Pathogenic
435291 rs1553690406 GRCh37: 3:81720003-81720003
GRCh38: 3:81670852-81670852
20 KCNJ2 NM_000891.3(KCNJ2):c.285_296del (p.Trp96_Phe99del) DEL Pathogenic
8921 GRCh37: 17:68171465-68171476
GRCh38: 17:70175324-70175335
21 KCNJ2 NM_000891.3(KCNJ2):c.682C>T (p.Arg228Ter) SNV Pathogenic
Pathogenic
403974 rs1060500053 GRCh37: 17:68171862-68171862
GRCh38: 17:70175721-70175721
22 KCNJ2 NM_000891.3(KCNJ2):c.715G>T (p.Glu239Ter) SNV Pathogenic
Pathogenic
463523 rs1555603974 GRCh37: 17:68171895-68171895
GRCh38: 17:70175754-70175754
23 KCNJ2 NM_000891.3(KCNJ2):c.721del (p.Glu241fs) DEL Pathogenic
960380 rs2074388917 GRCh37: 17:68171898-68171898
GRCh38: 17:70175757-70175757
24 KCNJ2 NM_000891.3(KCNJ2):c.1102del (p.Leu368fs) DEL Pathogenic
569363 rs1567823248 GRCh37: 17:68172281-68172281
GRCh38: 17:70176140-70176140
25 KCNJ2 NM_000891.3(KCNJ2):c.514G>A (p.Asp172Asn) SNV Pathogenic
8927 rs104894584 GRCh37: 17:68171694-68171694
GRCh38: 17:70175553-70175553
26 GBE1 NM_000158.3(GBE1):c.993-?_1618+?del DEL Pathogenic
Pathogenic
2783 GRCh37: 3:81586246-81691932
GRCh38: 3:81537095-81642781
27 GBE1 NM_000158.4:c.430_782del DEL Pathogenic
2787 GRCh37:
GRCh38:
28 GBE1 NM_000158.4(GBE1):c.1570C>T (p.Arg524Ter) SNV Pathogenic
Pathogenic
Pathogenic/Likely Pathogenic
2781 rs137852888 GRCh37: 3:81627124-81627124
GRCh38: 3:81577973-81577973
29 GBE1 NM_000158.4(GBE1):c.143+1G>A SNV Pathogenic
Pathogenic
Pathogenic
2784 rs397515343 GRCh37: 3:81810525-81810525
GRCh38: 3:81761374-81761374
30 GBE1 NM_000158.4(GBE1):c.1883A>G (p.His628Arg) SNV Pathogenic
Pathogenic
Conflicting Interpretations Of Pathogenicity
2788 rs137852891 GRCh37: 3:81584397-81584397
GRCh38: 3:81535246-81535246
31 GBE1 NM_000158.4(GBE1):c.708G>C (p.Gln236His) SNV Pathogenic
Pathogenic
Conflicting Interpretations Of Pathogenicity
2790 rs137852892 GRCh37: 3:81695617-81695617
GRCh38: 3:81646466-81646466
32 KCNJ2 NM_000891.3(KCNJ2):c.212A>T (p.Asp71Val) SNV Pathogenic
Pathogenic
8918 rs104894575 GRCh37: 17:68171392-68171392
GRCh38: 17:70175251-70175251
33 KCNJ2 NM_000891.3(KCNJ2):c.899G>T (p.Gly300Val) SNV Pathogenic
8920 rs104894579 GRCh37: 17:68172079-68172079
GRCh38: 17:70175938-70175938
34 KCNJ2 NM_000891.3(KCNJ2):c.557C>T (p.Pro186Leu) SNV Pathogenic
8924 rs104894581 GRCh37: 17:68171737-68171737
GRCh38: 17:70175596-70175596
35 KCNJ2 NM_000891.3(KCNJ2):c.904G>A (p.Val302Met) SNV Pathogenic
8925 rs104894582 GRCh37: 17:68172084-68172084
GRCh38: 17:70175943-70175943
36 KCNJ2 NM_000891.3(KCNJ2):c.646A>C (p.Asn216His) SNV Pathogenic
8926 rs104894583 GRCh37: 17:68171826-68171826
GRCh38: 17:70175685-70175685
37 KCNJ2 NM_000891.3(KCNJ2):c.224C>G (p.Thr75Arg) SNV Pathogenic
Pathogenic
8928 rs104894585 GRCh37: 17:68171404-68171404
GRCh38: 17:70175263-70175263
38 KCNJ2 NM_000891.3(KCNJ2):c.913A>C (p.Thr305Pro) SNV Pathogenic
30120 rs199473387 GRCh37: 17:68172093-68172093
GRCh38: 17:70175952-70175952
39 KCNJ2 NM_000891.3(KCNJ2):c.233A>G (p.Asp78Gly) SNV Pathogenic
67567 rs199473371 GRCh37: 17:68171413-68171413
GRCh38: 17:70175272-70175272
40 GBE1 NM_000158.4(GBE1):c.288del (p.Gly97fs) DEL Pathogenic
Pathogenic
371491 rs1057517315 GRCh37: 3:81754620-81754620
GRCh38: 3:81705469-81705469
41 KCNJ2 NM_000891.3(KCNJ2):c.644G>A (p.Gly215Asp) SNV Pathogenic
Pathogenic
67583 rs199473383 GRCh37: 17:68171824-68171824
GRCh38: 17:70175683-70175683
42 KCNJ2 NM_000891.3(KCNJ2):c.431G>A (p.Gly144Asp) SNV Pathogenic
Not Provided
Not Provided
67574 rs199473377 GRCh37: 17:68171611-68171611
GRCh38: 17:70175470-70175470
43 KCNJ2 NM_000891.3(KCNJ2):c.224C>T (p.Thr75Met) SNV Pathogenic
67565 rs104894585 GRCh37: 17:68171404-68171404
GRCh38: 17:70175263-70175263
44 GBE1 NM_000158.4(GBE1):c.1544G>A (p.Arg515His) SNV Pathogenic
Pathogenic
180651 rs201958741 GRCh37: 3:81627150-81627150
GRCh38: 3:81577999-81577999
45 GBE1 NC_000003.12:g.(?_81761375)_(81761517_?)del DEL Pathogenic
583853 GRCh37: 3:81810526-81810668
GRCh38: 3:81761375-81761517
46 GBE1 and overlap with 2 gene(s) NC_000003.12:g.(?_81490387)_(81761537_?)del DEL Pathogenic
649642 GRCh37: 3:81539538-81810688
GRCh38: 3:81490387-81761537
47 GBE1 NM_000158.4(GBE1):c.1909C>T (p.Arg637Ter) SNV Pathogenic
Pathogenic
346785 rs766935302 GRCh37: 3:81584371-81584371
GRCh38: 3:81535220-81535220
48 GBE1 and overlap with 2 gene(s) NC_000003.12:g.(?_81499090)_(81761537_?)del DEL Pathogenic
658997 GRCh37: 3:81548241-81810688
GRCh38: 3:81499090-81761537
49 GBE1 NC_000003.12:g.(?_81642771)_(81643000_?)del DEL Pathogenic
831402 GRCh37: 3:81691922-81692151
GRCh38:
50 GBE1 NC_000003.12:g.(?_81642771)_(81670963_?)del DEL Pathogenic
832400 GRCh37: 3:81691922-81720114
GRCh38:

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

73
# 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 directly related to Glycogen Storage Disease Iv:

# Pathway Source
1 Glycogen storage disease type IV (GBE1) Reactome 66

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

(show all 11)
# Super pathways Score Top Affiliating Genes
1 13.47 UBE2L3 TNFAIP3 SPATA2 SHARPIN RNF31 RBCK1
2
Show member pathways
12.56 TNFAIP3 RNF31 RBCK1 IKBKG CYLD
3
Show member pathways
12.44 NHLRC1 GBE1 GAA G6PC1
4
Show member pathways
12.36 UBE2L3 TNFAIP3 SPATA2 SHARPIN RNF31 RBCK1
5 12.28 TNFAIP3 SHARPIN OTULIN IKBKG CYLD
6
Show member pathways
11.68 NHLRC1 GBE1 GAA
7
Show member pathways
11.61 TNFAIP3 IKBKG CYLD
8
Show member pathways
11.59 UBE2L3 TNFAIP3 SPATA2 SHARPIN RNF31 RBCK1
9
Show member pathways
11.46 UBE2L3 RNF31 OTULIN CYLD
10
Show member pathways
11.19 NHLRC1 GBE1 GAA G6PC1
11 10.88 CYLD IKBKG TNFAIP3

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 ubiquitin ligase complex GO:0000151 9.56 UBE2L3 SHARPIN RBCK1 IKBKG
2 LUBAC complex GO:0071797 9.23 SHARPIN RNF31 RBCK1 OTULIN

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 10.13 SHARPIN RNF31 RBCK1 IKBKG
2 protein polyubiquitination GO:0000209 10.1 NHLRC1 RBCK1 RNF31 UBE2L3
3 proteasome-mediated ubiquitin-dependent protein catabolic process GO:0043161 10.08 SHARPIN RBCK1 NPLOC4 NHLRC1
4 protein ubiquitination GO:0016567 10.06 UBE2L3 TNFAIP3 SHARPIN RNF31 RBCK1 OTULIN
5 negative regulation of inflammatory response GO:0050728 10.03 TNFAIP3 SHARPIN OTULIN CYLD
6 negative regulation of NF-kappaB transcription factor activity GO:0032088 9.97 TNFAIP3 RBCK1 OTULIN CYLD
7 protein K63-linked deubiquitination GO:0070536 9.88 CYLD SPATA2 TNFAIP3
8 glycogen catabolic process GO:0005980 9.81 GAA G6PC1
9 regulation of necroptotic process GO:0060544 9.78 SPATA2 CYLD
10 nucleotide-binding oligomerization domain containing signaling pathway GO:0070423 9.76 TNFAIP3 CYLD
11 glycogen metabolic process GO:0005977 9.73 G6PC1 GAA GBE1 NHLRC1
12 protein linear polyubiquitination GO:0097039 9.63 SHARPIN RNF31 RBCK1
13 protein linear deubiquitination GO:1990108 9.43 SPATA2 OTULIN CYLD
14 regulation of tumor necrosis factor-mediated signaling pathway GO:0010803 9.32 TNFAIP3 SPATA2 SHARPIN OTULIN CYLD

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

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.95 UBE2L3 TNFAIP3 RNF31 RBCK1 NHLRC1 GBE1
2 ubiquitin-protein transferase activity GO:0004842 9.93 NHLRC1 RBCK1 RNF31 SHARPIN TNFAIP3 UBE2L3
3 K63-linked deubiquitinase activity GO:0061578 9.67 TNFAIP3 CYLD
4 ubiquitin binding GO:0043130 9.65 TNFAIP3 SHARPIN RNF31 RBCK1 NPLOC4
5 K48-linked polyubiquitin modification-dependent protein binding GO:0036435 9.62 RNF31 NPLOC4
6 linear polyubiquitin binding GO:1990450 9.56 RNF31 IKBKG
7 K63-linked polyubiquitin modification-dependent protein binding GO:0070530 9.23 TNFAIP3 RNF31 NPLOC4 IKBKG

Sources for Glycogen Storage Disease Iv

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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