GSD4
MCID: GLY007
MIFTS: 54

Glycogen Storage Disease Iv (GSD4)

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

Aliases & Classifications for Glycogen Storage Disease Iv

MalaCards integrated aliases for Glycogen Storage Disease Iv:

Name: Glycogen Storage Disease Iv 58 12 25 26 76 13 15
Glycogen Storage Disease Type Iv 25 26 38 56 45 74
Glycogen Branching Enzyme Deficiency 58 25 54 26 76
Andersen Disease 58 25 54 26 76
Amylopectinosis 58 12 54 26 76
Gsd Iv 58 25 54 26 76
Glycogen Storage Disease, Type Iv 12 30 6
Brancher Deficiency 58 54 26
Glycogenosis Iv 58 25 76
Gsd4 58 26 76
Cirrhosis, Familial, with Deposition of Abnormal Glycogen 58 54
Glycogen Storage Disease Type 4 54 26
Andersen's Disease 77 26
Gbe1 Deficiency 58 76
Glycogenosis 4 54 26
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic and Myopathic Form 60
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form 60
Glycogenosis Due to Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic and Myopathic Form 60
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form 60
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form 60
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form 60
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form 60
Gsd Due to Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic and Myopathic Form 60
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form 60
Glycogenosis Due to Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form 60
Glycogenosis Due to Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form 60
Glycogenosis Due to Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form 60
Glycogenosis Due to Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form 60
Gsd Due to Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form 60
Glycogenosis Due to Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form 60
Glycogenosis Due to Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form 60
Glycogen Storage Disease Type Iv, Childhood Combined Hepatic and Myopathic Form 60
Gsd Due to Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form 60
Glycogen Storage Disease Type 4, Childhood Combined Hepatic and Myopathic Form 60
Gsd Due to Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form 60
Gsd Due to Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form 60
Gsd Due to Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form 60
Gsd Due to Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form 60
Glycogen Storage Disease Type Iv, Fatal Perinatal Neuromuscular Form 60
Glycogenosis Type Iv, Childhood Combined Hepatic and Myopathic Form 60
Glycogen Storage Disease Type 4, Fatal Perinatal Neuromuscular Form 60
Glycogenosis Type 4, Childhood Combined Hepatic and Myopathic Form 60
Glycogen Storage Disease Type Iv, Congenital Neuromuscular Form 60
Glycogen Storage Disease Type Iv, Childhood Neuromuscular Form 60
Glycogen Storage Disease Type 4, Congenital Neuromuscular Form 60
Glycogen Storage Disease Type Iv, Non Progressive Hepatic Form 60
Glycogen Storage Disease Type 4, Childhood Neuromuscular Form 60
Gbe Deficiency, Childhood Combined Hepatic and Myopathic Form 60
Glycogen Storage Disease Type 4, Non Progressive Hepatic Form 60
Glycogen Storage Disease Type Iv, Adult Neuromuscular Form 60
Glycogen Storage Disease Type Iv, Progressive Hepatic Form 60
Glycogen Storage Disease Type 4, Adult Neuromuscular Form 60
Gsd Type 4, Childhood Combined Hepatic and Myopathic Form 60
Glycogen Storage Disease Type 4, Progressive Hepatic Form 60
Glycogenosis Type Iv, Fatal Perinatal Neuromuscular Form 60
Glycogenosis Type 4, Fatal Perinatal Neuromuscular Form 60
Gsdiv, Childhood Combined Hepatic and Myopathic Form 60
Glycogenosis Type Iv, Congenital Neuromuscular Form 60
Glycogenosis Type Iv, Childhood Neuromuscular Form 60
Glycogenosis Type 4, Congenital Neuromuscular Form 60
Gbe Deficiency, Fatal Perinatal Neuromuscular Form 60
Glycogenosis Type Iv, Non Progressive Hepatic Form 60
Glycogenosis Type 4, Childhood Neuromuscular Form 60
Glycogenosis Type 4, Non Progressive Hepatic Form 60
Deficiency of 1,4-Alpha-Glucan Branching Enzyme 12
Glycogenosis Type Iv, Adult Neuromuscular Form 60
Gsd Type 4, Fatal Perinatal Neuromuscular Form 60
Glycogenosis Type Iv, Progressive Hepatic Form 60
Branching-Transferase Deficiency Glycogenosis 12
Glycogenosis Type 4, Adult Neuromuscular Form 60
Gbe Deficiency, Congenital Neuromuscular Form 60
Glycogenosis Type 4, Progressive Hepatic Form 60
Gbe Deficiency, Childhood Neuromuscular Form 60
Gbe Deficiency, Non Progressive Hepatic Form 60
Gsd Type 4, Congenital Neuromuscular Form 60
Gsdiv, Fatal Perinatal Neuromuscular Form 60
Gsd Type 4, Childhood Neuromuscular Form 60
Gbe Deficiency, Adult Neuromuscular Form 60
Gsd Type 4, Non Progressive Hepatic Form 60
Gbe Deficiency, Progressive Hepatic Form 60
Gsd Type 4, Adult Neuromuscular Form 60
Gsdiv, Congenital Neuromuscular Form 60
Gsd Type 4, Progressive Hepatic Form 60
Gsdiv, Childhood Neuromuscular Form 60
Gsdiv, Non Progressive Hepatic Form 60
Storage Disease, Glycogen, Type Iv 41
Brancher Deficiency Glycogenosis 12
Gsdiv, Adult Neuromuscular Form 60
Gsdiv, Progressive Hepatic Form 60
Branching Enzyme Deficiency 26
Glycogen Storage Disease 4 76
Glycogen Branching Enzyme 13
Andersen Glycogenosis 26
Glycogenosis, Type Iv 26
Glycogenosis Type Iv 77
Type Iv Glycogenosis 26
Gsd Type Iv 26
Gsd-Iv 76
Gsd 4 54

Characteristics:

OMIM:

58
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:

33
glycogen storage disease iv:
Inheritance autosomal recessive inheritance


GeneReviews:

25
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 : 54 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.

MalaCards based summary : Glycogen Storage Disease Iv, also known as glycogen storage disease type iv, is related to glycogen storage disease 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 Starch and sucrose metabolism and Metabolism. The drug Pharmaceutical Solutions has been mentioned in the context of this disorder. Affiliated tissues include liver, spleen and skeletal muscle, and related phenotypes are muscular hypotonia and muscle weakness

Genetics Home Reference : 26 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.

UniProtKB/Swiss-Prot : 76 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 : 77 Glycogen storage disease type IV, is a form of glycogen storage disease, which is caused by an inborn... more...

Description 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 all 31)
# Related Disease Score Top Affiliating Genes
1 glycogen storage disease 30.2 AGL G6PC GAA GBE1
2 polyglucosan body myopathy 1 with or without immunodeficiency 30.2 RBCK1 RNF31
3 myoclonic epilepsy of lafora 29.6 GBE1 NHLRC1
4 hypoglycemia 29.6 AGL CPT2 G6PC
5 glycogen storage disease due to glycogen branching enzyme deficiency 12.6
6 lymphangiectasis 10.1
7 glycogen storage disease v 10.1 CPT2 GAA
8 hepatocellular carcinoma 10.1
9 cirrhosis, familial 10.1
10 fetal akinesia deformation sequence 1 10.1
11 lymphatic malformation 7 10.1
12 liver disease 10.1
13 hepatocellular adenoma 10.1
14 adenoma 10.1
15 fetal edema 10.1
16 hydrops fetalis 10.1
17 incontinentia pigmenti 10.0 RBCK1 RNF31
18 polyglucosan body neuropathy, adult form 10.0
19 adult polyglucosan body disease 10.0
20 hypotonia 10.0
21 atrial standstill 1 10.0 AGL GAA GBE1
22 progressive myoclonus epilepsy, lafora type 10.0
23 epilepsy 9.9
24 myopathy 9.9
25 myoclonus epilepsy 9.9
26 myoclonus 9.9
27 progressive myoclonus epilepsy 9.9 GBE1 NHLRC1
28 infantile hypotonia 9.9
29 glycogen storage disease iii 9.9 AGL G6PC GAA
30 krabbe disease 9.8 CHIT1 GAA
31 carbohydrate metabolic disorder 9.7 AGL G6PC GAA GBE1

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:

33 (show all 19)
# Description HPO Frequency HPO Source Accession
1 muscular hypotonia 33 HP:0001252
2 muscle weakness 33 HP:0001324
3 failure to thrive 33 HP:0001508
4 portal hypertension 33 HP:0001409
5 ascites 33 HP:0001541
6 skeletal muscle atrophy 33 HP:0003202
7 edema 33 HP:0000969
8 hydrops fetalis 33 HP:0001789
9 cirrhosis 33 HP:0001394
10 cardiomyopathy 33 HP:0001638
11 reduced tendon reflexes 33 HP:0001315
12 arthrogryposis multiplex congenita 33 HP:0002804
13 hepatic failure 33 HP:0001399
14 polyhydramnios 33 HP:0001561
15 esophageal varix 33 HP:0002040
16 decreased fetal movement 33 HP:0001558
17 generalized hypotonia 33 HP:0001290
18 hepatosplenomegaly 33 HP:0001433
19 tubulointerstitial fibrosis 33 HP:0005576

Symptoms via clinical synopsis from OMIM:

58
Muscle Soft Tissue:
muscle weakness
muscle atrophy

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)

Growth Other:
failure to thrive

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

UMLS symptoms related to Glycogen Storage Disease Iv:


muscle weakness, hepatosplenomegaly

MGI Mouse Phenotypes related to Glycogen Storage Disease Iv:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 9.02 AGL G6PC GBE1 NHLRC1 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 Not Applicable

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 Not Applicable
4 Biomarker for Glycogen Storage Diseases (BioGlycogen) 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 30 GBE1

Anatomical Context for Glycogen Storage Disease Iv

MalaCards organs/tissues related to Glycogen Storage Disease Iv:

42
Liver, Spleen, Skeletal Muscle, Brain, Heart

Publications for Glycogen Storage Disease Iv

Articles related to Glycogen Storage Disease Iv:

(show top 50) (show all 57)
# Title Authors Year
1
Novel pathogenic variants in GBE1 causing fetal akinesia deformation sequence and severe neuromuscular form of glycogen storage disease type IV. ( 30303820 )
2019
2
Case of Neonatal Fatality from Neuromuscular Variant of Glycogen Storage Disease Type IV. ( 30311141 )
2019
3
Glycogen Storage Disease Type IV: A Rare Cause for Neuromuscular Disorders or Often Missed? ( 30569318 )
2018
4
Polyglucosan Bodies in Placental Extravillious Trophoblast for the Diagnosis of Fatal Perinatal Neuromuscular-type Glycogen Storage Disease Type IV. ( 28497716 )
2018
5
Variable clinical presentation of glycogen storage disease type IV: from severe hepatosplenomegaly to cardiac insufficiency. Some discrepancies in genetic and biochemical abnormalities. ( 29379554 )
2018
6
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. ( 30228975 )
2018
7
A Case of Glycogen Storage Disease IV with Rare Homozygous Mutations in the Glycogen Branching Enzyme Gene. ( 30345254 )
2018
8
Systemic Correction of Murine Glycogen Storage Disease Type IV by an AAV-Mediated Gene Therapy. ( 27832700 )
2017
9
Neural correlates of adaptive working memory training in a glycogen storage disease type-IV patient. ( 28275655 )
2017
10
A novel GBE1 gene variant in a child with glycogen storage disease type IV. ( 27107456 )
2016
11
A Modified Enzymatic Method for Measurement of Glycogen Content in Glycogen Storage Disease Type IV. ( 27344645 )
2016
12
Distinctly Elevated Chitotriosidase Activity in a Child with Congenital Andersen Disease (Glycogen Storage Disease Type IV). ( 27442143 )
2016
13
A novel neuromuscular form of glycogen storage disease type IV with arthrogryposis, spinal stiffness and rare polyglucosan bodies in muscle. ( 27546458 )
2016
14
Alglucosidase alfa treatment alleviates liver disease in a mouse model of glycogen storage disease type IV. ( 27747161 )
2016
15
Glycogen Storage Disease Type IV and Early Implantation Defect: Early Trophoblastic Involvement Associated with a New GBE1 Mutation. ( 25489661 )
2016
16
Glycogen Storage Disease Type IV: A Case With Histopathologic Findings in First-Trimester Placental Tissue. ( 26166723 )
2016
17
A Rare Cause of Elevated Chitotriosidase Activity: Glycogen Storage Disease Type IV. ( 25155778 )
2014
18
Association of the congenital neuromuscular form of glycogen storage disease type IV with a large deletion and recurrent frameshift mutation. ( 21917543 )
2012
19
Neonatal presentation of lethal neuromuscular glycogen storage disease type IV. ( 23014386 )
2012
20
Cardiac Involvement in Glycogen Storage Disease Type IV: Two Cases and the Two Ends of a Spectrum. ( 23056054 )
2012
21
Glycogen-branching enzyme deficiency leads to abnormal cardiac development: novel insights into glycogen storage disease IV. ( 21075835 )
2011
22
Liver biopsy is an important procedure in the diagnosis of glycogen storage disease type IV. ( 21342345 )
2011
23
Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder. ( 20058079 )
2010
24
PGD for glycogen storage disease type IV: birth of healthy twins following successful clinical application of a mutation-specific protocol. ( 20063322 )
2010
25
Anesthetic management in a child with Glycogen Storage Disease IV. ( 20519014 )
2010
26
Neuropathological study of skeletal muscle, heart, liver, and brain in a neonatal form of glycogen storage disease type IV associated with a new mutation in GBE1 gene. ( 19357989 )
2009
27
Living Donor Liver Transplantation in a Korean Child with Glycogen Storage Disease Type IV and a GBE1 Mutation. ( 20479904 )
2009
28
A case of congenital glycogen storage disease type IV with a novel GBE1 mutation. ( 18230843 )
2008
29
Placental involvement in glycogen storage disease type IV. ( 18289670 )
2008
30
A complex rearrangement in GBE1 causes both perinatal hypoglycemic collapse and late-juvenile-onset neuromuscular degeneration in glycogen storage disease type IV of Norwegian forest cats. ( 17257876 )
2007
31
Null mutations and lethal congenital form of glycogen storage disease type IV. ( 17662246 )
2007
32
Non-lethal congenital hypotonia due to glycogen storage disease type IV. ( 16528737 )
2006
33
Neonatal neuromuscular variant of glycogen storage disease type IV: histopathological findings leading to the diagnosis. ( 16722943 )
2006
34
Prenatal diagnosis of glycogen storage disease type IV. ( 16874838 )
2006
35
Fatal infantile neuromuscular presentation of glycogen storage disease type IV. ( 15019703 )
2004
36
Congenital form of glycogen storage disease type IV: a case report and a review of the literature. ( 15310318 )
2004
37
Glycogen branching enzyme (GBE1) mutation causing equine glycogen storage disease IV. ( 15366377 )
2004
38
Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). ( 15452297 )
2004
39
A neonatal form of glycogen storage disease type IV. ( 12913206 )
2003
40
Genetic mapping of GBE1 and its association with glycogen storage disease IV in American Quarter horses. ( 14970703 )
2003
41
The variable presentations of glycogen storage disease type IV: a review of clinical, enzymatic and molecular studies. ( 11949934 )
2002
42
Hepatocellular carcinoma in glycogen storage disease type IV. ( 10833181 )
2000
43
Glycogen storage disease type IV presenting as hydrops fetalis. ( 10384399 )
1999
44
Prenatal diagnosis of glycogen storage disease type IV using PCR-based DNA mutation analysis. ( 10521841 )
1999
45
Glycogen storage disease type IV: a case report. ( 10533307 )
1999
46
Glycogen storage disease type IV: a case report. ( 9610625 )
1998
47
Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene. ( 8613547 )
1996
48
Glycogen storage disease (type-IV) with cirrhosis and metastatic intrathoracic neuroblastoma. ( 7960005 )
1994
49
Hepatocellular adenoma in glycogen storage disease type IV. ( 8285839 )
1994
50
Neonatal hypotonia and cardiomyopathy secondary to type IV glycogenosis. ( 8059607 )
1994

Variations for Glycogen Storage Disease Iv

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

76
# 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 956)
# Gene Variation Type Significance SNP ID Assembly Location
1 AGL NM_000642.2(AGL): c.4529dupA (p.Tyr1510Terfs) duplication Pathogenic/Likely pathogenic rs387906244 GRCh37 Chromosome 1, 100387137: 100387137
2 AGL NM_000642.2(AGL): c.4529dupA (p.Tyr1510Terfs) duplication Pathogenic/Likely pathogenic rs387906244 GRCh38 Chromosome 1, 99921581: 99921581
3 AGL NM_000642.2(AGL): c.16C> T (p.Gln6Ter) single nucleotide variant Pathogenic/Likely pathogenic rs113994126 GRCh37 Chromosome 1, 100316614: 100316614
4 AGL NM_000642.2(AGL): c.16C> T (p.Gln6Ter) single nucleotide variant Pathogenic/Likely pathogenic rs113994126 GRCh38 Chromosome 1, 99851058: 99851058
5 AGL NM_000642.2(AGL): c.2039G> A (p.Trp680Ter) single nucleotide variant Pathogenic rs113994129 GRCh37 Chromosome 1, 100346885: 100346885
6 AGL NM_000642.2(AGL): c.2039G> A (p.Trp680Ter) single nucleotide variant Pathogenic rs113994129 GRCh38 Chromosome 1, 99881329: 99881329
7 AGL NM_000642.2(AGL): c.4456delT (p.Ser1486Profs) deletion Pathogenic rs113994134 GRCh37 Chromosome 1, 100382262: 100382262
8 AGL NM_000642.2(AGL): c.4456delT (p.Ser1486Profs) deletion Pathogenic rs113994134 GRCh38 Chromosome 1, 99916706: 99916706
9 AGL NM_000642.2(AGL): c.4260-12A> G single nucleotide variant Pathogenic/Likely pathogenic rs369973784 GRCh37 Chromosome 1, 100381954: 100381954
10 AGL NM_000642.2(AGL): c.4260-12A> G single nucleotide variant Pathogenic/Likely pathogenic rs369973784 GRCh38 Chromosome 1, 99916398: 99916398
11 AGL NM_000642.2(AGL): c.1735+1G> T single nucleotide variant Likely pathogenic rs199922945 GRCh37 Chromosome 1, 100345603: 100345603
12 AGL NM_000642.2(AGL): c.1735+1G> T single nucleotide variant Likely pathogenic rs199922945 GRCh38 Chromosome 1, 99880047: 99880047
13 AGL NM_000642.2(AGL): c.3965delT (p.Val1322Alafs) deletion Pathogenic rs113994132 GRCh37 Chromosome 1, 100379098: 100379098
14 AGL NM_000642.2(AGL): c.3965delT (p.Val1322Alafs) deletion Pathogenic rs113994132 GRCh38 Chromosome 1, 99913542: 99913542
15 AGL NM_000642.2(AGL): c.1222C> T (p.Arg408Ter) single nucleotide variant Pathogenic rs113994128 GRCh37 Chromosome 1, 100340950: 100340950
16 AGL NM_000642.2(AGL): c.1222C> T (p.Arg408Ter) single nucleotide variant Pathogenic rs113994128 GRCh38 Chromosome 1, 99875394: 99875394
17 AGL NM_000642.2(AGL): c.3980G> A (p.Trp1327Ter) single nucleotide variant Pathogenic rs267606640 GRCh37 Chromosome 1, 100379113: 100379113
18 AGL NM_000642.2(AGL): c.3980G> A (p.Trp1327Ter) single nucleotide variant Pathogenic rs267606640 GRCh38 Chromosome 1, 99913557: 99913557
19 GBE1 NM_000158.3(GBE1): c.783-1G> A single nucleotide variant Pathogenic rs397515342 GRCh37 Chromosome 3, 81692142: 81692142
20 GBE1 NM_000158.3(GBE1): c.783-1G> A single nucleotide variant Pathogenic rs397515342 GRCh38 Chromosome 3, 81642991: 81642991
21 GBE1 NM_000158.3(GBE1): c.986A> C (p.Tyr329Ser) single nucleotide variant Pathogenic rs80338671 GRCh37 Chromosome 3, 81691938: 81691938
22 GBE1 NM_000158.3(GBE1): c.986A> C (p.Tyr329Ser) single nucleotide variant Pathogenic rs80338671 GRCh38 Chromosome 3, 81642787: 81642787
23 GBE1 NM_000158.3(GBE1): c.671T> C (p.Leu224Pro) single nucleotide variant Likely pathogenic rs137852886 GRCh37 Chromosome 3, 81698027: 81698027
24 GBE1 NM_000158.3(GBE1): c.671T> C (p.Leu224Pro) single nucleotide variant Likely pathogenic rs137852886 GRCh38 Chromosome 3, 81648876: 81648876
25 GBE1 NM_000158.3(GBE1): c.1543C> T (p.Arg515Cys) single nucleotide variant Pathogenic rs80338672 GRCh37 Chromosome 3, 81627151: 81627151
26 GBE1 NM_000158.3(GBE1): c.1543C> T (p.Arg515Cys) single nucleotide variant Pathogenic rs80338672 GRCh38 Chromosome 3, 81578000: 81578000
27 GBE1 NM_000158.3(GBE1): c.771T> A (p.Phe257Leu) single nucleotide variant Pathogenic rs137852887 GRCh37 Chromosome 3, 81695554: 81695554
28 GBE1 NM_000158.3(GBE1): c.771T> A (p.Phe257Leu) single nucleotide variant Pathogenic rs137852887 GRCh38 Chromosome 3, 81646403: 81646403
29 GBE1 NM_000158.3(GBE1): c.1570C> T (p.Arg524Ter) single nucleotide variant Pathogenic rs137852888 GRCh37 Chromosome 3, 81627124: 81627124
30 GBE1 NM_000158.3(GBE1): c.1570C> T (p.Arg524Ter) single nucleotide variant Pathogenic rs137852888 GRCh38 Chromosome 3, 81577973: 81577973
31 GBE1 NM_000158.3(GBE1): c.1571G> A (p.Arg524Gln) single nucleotide variant Pathogenic rs80338673 GRCh37 Chromosome 3, 81627123: 81627123
32 GBE1 NM_000158.3(GBE1): c.1571G> A (p.Arg524Gln) single nucleotide variant Pathogenic rs80338673 GRCh38 Chromosome 3, 81577972: 81577972
33 GBE1 NM_000158.3(GBE1): c.993-?_1618+?del deletion Pathogenic GRCh37 Chromosome 3, 81586246: 81691932
34 GBE1 NM_000158.3(GBE1): c.993-?_1618+?del deletion Pathogenic GRCh38 Chromosome 3, 81537095: 81642781
35 GBE1 NM_000158.3(GBE1): c.143+1G> A single nucleotide variant Pathogenic rs397515343 GRCh37 Chromosome 3, 81810525: 81810525
36 GBE1 NM_000158.3(GBE1): c.143+1G> A single nucleotide variant Pathogenic rs397515343 GRCh38 Chromosome 3, 81761374: 81761374
37 GBE1 NM_000158.3(GBE1): c.1634A> G (p.His545Arg) single nucleotide variant Pathogenic rs137852889 GRCh37 Chromosome 3, 81586231: 81586231
38 GBE1 NM_000158.3(GBE1): c.1634A> G (p.His545Arg) single nucleotide variant Pathogenic rs137852889 GRCh38 Chromosome 3, 81537080: 81537080
39 GBE1 NM_000158.3(GBE1): c.1774G> T (p.Glu592Ter) single nucleotide variant Pathogenic rs137852890 GRCh37 Chromosome 3, 81586091: 81586091
40 GBE1 NM_000158.3(GBE1): c.1774G> T (p.Glu592Ter) single nucleotide variant Pathogenic rs137852890 GRCh38 Chromosome 3, 81536940: 81536940
41 GBE1 GBE1, 253-BP DEL deletion Pathogenic
42 GBE1 NM_000158.3(GBE1): c.1883A> G (p.His628Arg) single nucleotide variant Pathogenic rs137852891 GRCh37 Chromosome 3, 81584397: 81584397
43 GBE1 NM_000158.3(GBE1): c.1883A> G (p.His628Arg) single nucleotide variant Pathogenic rs137852891 GRCh38 Chromosome 3, 81535246: 81535246
44 GBE1 NM_000158.3(GBE1): c.708G> C (p.Gln236His) single nucleotide variant Pathogenic rs137852892 GRCh37 Chromosome 3, 81695617: 81695617
45 GBE1 NM_000158.3(GBE1): c.708G> C (p.Gln236His) single nucleotide variant Pathogenic rs137852892 GRCh38 Chromosome 3, 81646466: 81646466
46 GBE1 NM_000158.3(GBE1): c.784C> T (p.Arg262Cys) single nucleotide variant Pathogenic rs137852893 GRCh37 Chromosome 3, 81692140: 81692140
47 GBE1 NM_000158.3(GBE1): c.784C> T (p.Arg262Cys) single nucleotide variant Pathogenic rs137852893 GRCh38 Chromosome 3, 81642989: 81642989
48 GBE1 NM_000158.3(GBE1): c.691+5G> C single nucleotide variant Pathogenic rs397515344 GRCh37 Chromosome 3, 81698002: 81698002
49 GBE1 NM_000158.3(GBE1): c.691+5G> C single nucleotide variant Pathogenic rs397515344 GRCh38 Chromosome 3, 81648851: 81648851
50 GBE1 NM_000158.3(GBE1): c.1643G> A (p.Trp548Ter) single nucleotide variant Pathogenic rs137852894 GRCh37 Chromosome 3, 81586222: 81586222

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:

38
# 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
13.56 AGL CHIT1 CPT2 G6PC GAA GBE1
2
Show member pathways
12.13 AGL G6PC GAA GBE1 NHLRC1
3
Show member pathways
11.85 AGL CHIT1 G6PC GAA GBE1 NHLRC1
4
Show member pathways
11.77 OTULIN RBCK1 RNF31
5
Show member pathways
11.34 AGL G6PC GAA GBE1
6 10.88 AGL GBE1

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 8.8 OTULIN RBCK1 RNF31

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

# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.61 CHIT1 GAA GBE1
2 metabolic process GO:0008152 9.58 AGL CHIT1 GAA
3 protein polyubiquitination GO:0000209 9.54 NHLRC1 RBCK1 RNF31
4 negative regulation of NF-kappaB transcription factor activity GO:0032088 9.48 OTULIN RBCK1
5 I-kappaB kinase/NF-kappaB signaling GO:0007249 9.46 RBCK1 RNF31
6 regulation of tumor necrosis factor-mediated signaling pathway GO:0010803 9.43 OTULIN RBCK1 RNF31
7 glycogen biosynthetic process GO:0005978 9.33 AGL GBE1 NHLRC1
8 protein linear polyubiquitination GO:0097039 9.32 RBCK1 RNF31
9 glycogen catabolic process GO:0005980 9.13 AGL G6PC GAA
10 glycogen metabolic process GO:0005977 8.92 AGL G6PC GAA GBE1

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

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.72 AGL CHIT1 G6PC GAA OTULIN
2 transferase activity GO:0016740 9.63 AGL CPT2 GBE1 NHLRC1 RBCK1 RNF31
3 ubiquitin-protein transferase activity GO:0004842 9.43 NHLRC1 RBCK1 RNF31
4 ubiquitin binding GO:0043130 9.37 RBCK1 RNF31
5 hydrolase activity, acting on glycosyl bonds GO:0016798 9.13 AGL CHIT1 GAA
6 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 8.8 CHIT1 GAA GBE1

Sources for Glycogen Storage Disease Iv

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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