GSD4
MCID: GLY007
MIFTS: 53

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 57 12 24 25 75 13 15
Glycogen Storage Disease Type Iv 24 25 37 55 44 73
Glycogen Branching Enzyme Deficiency 57 24 53 25 75
Andersen Disease 57 24 53 25 75
Amylopectinosis 57 12 53 25 75
Gsd Iv 57 24 53 25 75
Glycogen Storage Disease, Type Iv 12 29 6
Brancher Deficiency 57 53 25
Glycogenosis Iv 57 24 75
Gsd4 57 25 75
Cirrhosis, Familial, with Deposition of Abnormal Glycogen 57 53
Glycogen Storage Disease Type 4 53 25
Andersen's Disease 76 25
Gbe1 Deficiency 57 75
Glycogenosis 4 53 25
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic and Myopathic Form 59
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form 59
Glycogenosis Due to Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic and Myopathic Form 59
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form 59
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form 59
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form 59
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form 59
Gsd Due to Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic and Myopathic Form 59
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form 59
Glycogenosis Due to Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form 59
Glycogenosis Due to Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form 59
Glycogenosis Due to Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form 59
Glycogenosis Due to Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form 59
Gsd Due to Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form 59
Glycogenosis Due to Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form 59
Glycogenosis Due to Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form 59
Glycogen Storage Disease Type Iv, Childhood Combined Hepatic and Myopathic Form 59
Gsd Due to Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form 59
Glycogen Storage Disease Type 4, Childhood Combined Hepatic and Myopathic Form 59
Gsd Due to Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form 59
Gsd Due to Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form 59
Gsd Due to Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form 59
Gsd Due to Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form 59
Glycogen Storage Disease Type Iv, Fatal Perinatal Neuromuscular Form 59
Glycogenosis Type Iv, Childhood Combined Hepatic and Myopathic Form 59
Glycogen Storage Disease Type 4, Fatal Perinatal Neuromuscular Form 59
Glycogenosis Type 4, Childhood Combined Hepatic and Myopathic Form 59
Glycogen Storage Disease Type Iv, Congenital Neuromuscular Form 59
Glycogen Storage Disease Type Iv, Childhood Neuromuscular Form 59
Glycogen Storage Disease Type 4, Congenital Neuromuscular Form 59
Glycogen Storage Disease Type Iv, Non Progressive Hepatic Form 59
Glycogen Storage Disease Type 4, Childhood Neuromuscular Form 59
Gbe Deficiency, Childhood Combined Hepatic and Myopathic Form 59
Glycogen Storage Disease Type 4, Non Progressive Hepatic Form 59
Glycogen Storage Disease Type Iv, Adult Neuromuscular Form 59
Glycogen Storage Disease Type Iv, Progressive Hepatic Form 59
Glycogen Storage Disease Type 4, Adult Neuromuscular Form 59
Gsd Type 4, Childhood Combined Hepatic and Myopathic Form 59
Glycogen Storage Disease Type 4, Progressive Hepatic Form 59
Glycogenosis Type Iv, Fatal Perinatal Neuromuscular Form 59
Glycogenosis Type 4, Fatal Perinatal Neuromuscular Form 59
Gsdiv, Childhood Combined Hepatic and Myopathic Form 59
Glycogenosis Type Iv, Congenital Neuromuscular Form 59
Glycogenosis Type Iv, Childhood Neuromuscular Form 59
Glycogenosis Type 4, Congenital Neuromuscular Form 59
Gbe Deficiency, Fatal Perinatal Neuromuscular Form 59
Glycogenosis Type Iv, Non Progressive Hepatic Form 59
Glycogenosis Type 4, Childhood Neuromuscular Form 59
Glycogenosis Type 4, Non Progressive Hepatic Form 59
Deficiency of 1,4-Alpha-Glucan Branching Enzyme 12
Glycogenosis Type Iv, Adult Neuromuscular Form 59
Gsd Type 4, Fatal Perinatal Neuromuscular Form 59
Glycogenosis Type Iv, Progressive Hepatic Form 59
Branching-Transferase Deficiency Glycogenosis 12
Glycogenosis Type 4, Adult Neuromuscular Form 59
Gbe Deficiency, Congenital Neuromuscular Form 59
Glycogenosis Type 4, Progressive Hepatic Form 59
Gbe Deficiency, Childhood Neuromuscular Form 59
Gbe Deficiency, Non Progressive Hepatic Form 59
Gsd Type 4, Congenital Neuromuscular Form 59
Gsdiv, Fatal Perinatal Neuromuscular Form 59
Gsd Type 4, Childhood Neuromuscular Form 59
Gbe Deficiency, Adult Neuromuscular Form 59
Gsd Type 4, Non Progressive Hepatic Form 59
Gbe Deficiency, Progressive Hepatic Form 59
Gsd Type 4, Adult Neuromuscular Form 59
Gsdiv, Congenital Neuromuscular Form 59
Gsd Type 4, Progressive Hepatic Form 59
Gsdiv, Childhood Neuromuscular Form 59
Gsdiv, Non Progressive Hepatic Form 59
Storage Disease, Glycogen, Type Iv 40
Brancher Deficiency Glycogenosis 12
Gsdiv, Adult Neuromuscular Form 59
Gsdiv, Progressive Hepatic Form 59
Branching Enzyme Deficiency 25
Glycogen Storage Disease 4 75
Glycogen Branching Enzyme 13
Andersen Glycogenosis 25
Glycogenosis, Type Iv 25
Glycogenosis Type Iv 76
Type Iv Glycogenosis 25
Gsd Type Iv 25
Gsd-Iv 75
Gsd 4 53

Characteristics:

OMIM:

57
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:

32
glycogen storage disease iv:
Inheritance autosomal recessive inheritance


GeneReviews:

24
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 : 53 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 Glycosaminoglycan metabolism. The drug Pharmaceutical Solutions has been mentioned in the context of this disorder. Affiliated tissues include liver, spleen and skeletal muscle, and related phenotypes are muscular hypotonia and muscle weakness

Genetics Home Reference : 25 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 : 75 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 : 76 Glycogen storage disease type IV, also known as Andersen�??s Disease, is a form of glycogen storage... 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 30)
# Related Disease Score Top Affiliating Genes
1 glycogen storage disease 30.4 AGL G6PC GAA GBE1
2 polyglucosan body myopathy 1 with or without immunodeficiency 30.1 RBCK1 RNF31
3 hypoglycemia 29.8 AGL CPT2 G6PC
4 myoclonic epilepsy of lafora 29.7 GBE1 NHLRC1
5 glycogen storage disease due to glycogen branching enzyme deficiency 12.6
6 hepatocellular carcinoma 10.1
7 fetal akinesia deformation sequence 10.1
8 neuroblastoma 10.1
9 hydrops fetalis, nonimmune, and/or atrial septal defect 10.1
10 liver disease 10.1
11 hepatocellular adenoma 10.1
12 adenoma 10.1
13 fetal edema 10.1
14 hydrops fetalis 10.1
15 glycogen storage disease v 10.0 CPT2 GAA
16 atrial standstill 1 10.0 AGL GAA GBE1
17 polyglucosan body neuropathy, adult form 10.0
18 adult polyglucosan body disease 10.0
19 hypotonia 10.0
20 glycogen storage disease iii 10.0 AGL G6PC GAA
21 progressive myoclonus epilepsy 10.0 GBE1 NHLRC1
22 progressive myoclonus epilepsy, lafora type 9.9
23 epilepsy 9.9
24 myopathy 9.9
25 myoclonus epilepsy 9.9
26 myoclonus 9.9
27 infantile hypotonia 9.9
28 carbohydrate metabolic disorder 9.9 AGL G6PC GAA GBE1
29 muscular disease 9.9 CPT2 DOK7 GAA
30 incontinentia pigmenti 9.8 RBCK1 RNF31 SHARPIN

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



Diseases related to Glycogen Storage Disease Iv

Symptoms & Phenotypes for Glycogen Storage Disease Iv

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Glycogen Storage Disease Iv:

32 (show all 19)
# Description HPO Frequency HPO Source Accession
1 muscular hypotonia 32 HP:0001252
2 muscle weakness 32 HP:0001324
3 failure to thrive 32 HP:0001508
4 portal hypertension 32 HP:0001409
5 ascites 32 HP:0001541
6 skeletal muscle atrophy 32 HP:0003202
7 edema 32 HP:0000969
8 hydrops fetalis 32 HP:0001789
9 cirrhosis 32 HP:0001394
10 cardiomyopathy 32 HP:0001638
11 reduced tendon reflexes 32 HP:0001315
12 arthrogryposis multiplex congenita 32 HP:0002804
13 polyhydramnios 32 HP:0001561
14 hepatic failure 32 HP:0001399
15 esophageal varix 32 HP:0002040
16 decreased fetal movement 32 HP:0001558
17 generalized hypotonia 32 HP:0001290
18 hepatosplenomegaly 32 HP:0001433
19 tubulointerstitial fibrosis 32 HP:0005576

UMLS symptoms related to Glycogen Storage Disease Iv:


muscle weakness, hepatosplenomegaly

MGI Mouse Phenotypes related to Glycogen Storage Disease Iv:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 9.73 AGL G6PC GBE1 NHLRC1 RBCK1 SHARPIN
2 muscle MP:0005369 9.55 AGL DOK7 GAA GBE1 NHLRC1
3 respiratory system MP:0005388 9.35 AGL CPT2 DOK7 GBE1 SHARPIN
4 skeleton MP:0005390 9.1 AGL CPT2 G6PC GAA OTULIN SHARPIN

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 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 29 GBE1

Anatomical Context for Glycogen Storage Disease Iv

MalaCards organs/tissues related to Glycogen Storage Disease Iv:

41
Liver, Spleen, Skeletal Muscle

Publications for Glycogen Storage Disease Iv

Articles related to Glycogen Storage Disease Iv:

(show all 17)
# 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
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
3
Case of Neonatal Fatality from Neuromuscular Variant of Glycogen Storage Disease Type IV. ( 30311141 )
2018
4
A Case of Glycogen Storage Disease IV with Rare Homozygous Mutations in the Glycogen Branching Enzyme Gene. ( 30345254 )
2018
5
Glycogen-branching enzyme deficiency leads to abnormal cardiac development: novel insights into glycogen storage disease IV. ( 21075835 )
2011
6
Anesthetic management in a child with Glycogen Storage Disease IV. ( 20519014 )
2010
7
Glycogen branching enzyme (GBE1) mutation causing equine glycogen storage disease IV. ( 15366377 )
2004
8
Genetic mapping of GBE1 and its association with glycogen storage disease IV in American Quarter horses. ( 14970703 )
2003
9
Hepatocellular carcinoma in glycogen storage disease type IV. ( 10833181 )
2000
10
Glycogen storage disease (type-IV) with cirrhosis and metastatic intrathoracic neuroblastoma. ( 7960005 )
1994
11
Leukocyte inclusions in glycogen storage disease, type IV. ( 1333075 )
1992
12
Glycogen storage disease type IV: inherited deficiency of branching enzyme activity in cats. ( 1337588 )
1992
13
Glycogen storage disease (Type IV): a familial cirrhosis diagnosed by electron microscopy (case report). ( 6938485 )
1980
14
Glycogen storage disease type IV diagnosed biochemically. A case report. ( 280962 )
1978
15
Studies in glycogen storage disease. IV. Leukocyte phosphorylase in a family with type VI GSD. ( 4313495 )
1970
16
Glycogen storage disease type IV, amylopectinosis. ( 5246692 )
1968
17
Glycogen storage disease type IV, amylopectinosis. ( 5248385 )
1968

Variations for Glycogen Storage Disease Iv

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

75
# 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 958)
# 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:

37
# Name Kegg Source Accession
1 Starch and sucrose metabolism hsa00500

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.41 AGL G6PC GAA GBE1 NHLRC1
2
Show member pathways
11.93 AGL G6PC GAA GBE1 NHLRC1
3
Show member pathways
11.79 OTULIN RBCK1 RNF31 SHARPIN
4
Show member pathways
11.74 RBCK1 RNF31 SHARPIN
5
Show member pathways
11.01 AGL G6PC GAA GBE1
6 10.92 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 8.92 OTULIN RBCK1 RNF31 SHARPIN

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

# Name GO ID Score Top Affiliating Genes
1 protein polyubiquitination GO:0000209 9.63 NHLRC1 RBCK1 RNF31
2 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.61 RBCK1 RNF31 SHARPIN
3 proteasome-mediated ubiquitin-dependent protein catabolic process GO:0043161 9.58 NHLRC1 RBCK1 SHARPIN
4 I-kappaB kinase/NF-kappaB signaling GO:0007249 9.54 RBCK1 RNF31 SHARPIN
5 glycogen biosynthetic process GO:0005978 9.5 AGL GBE1 NHLRC1
6 negative regulation of NF-kappaB transcription factor activity GO:0032088 9.48 OTULIN RBCK1
7 glycogen metabolic process GO:0005977 9.46 AGL G6PC GAA GBE1
8 glycogen catabolic process GO:0005980 9.43 AGL G6PC GAA
9 regulation of tumor necrosis factor-mediated signaling pathway GO:0010803 9.26 OTULIN RBCK1 RNF31 SHARPIN
10 protein linear polyubiquitination GO:0097039 8.8 RBCK1 RNF31 SHARPIN

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 9.73 AGL CPT2 GBE1 NHLRC1 RBCK1 RNF31
2 polyubiquitin modification-dependent protein binding GO:0031593 9.32 AGL SHARPIN
3 ubiquitin-protein transferase activity GO:0004842 9.26 NHLRC1 RBCK1 RNF31 SHARPIN
4 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.16 GAA GBE1
5 ubiquitin binding GO:0043130 8.8 RBCK1 RNF31 SHARPIN

Sources for Glycogen Storage Disease Iv

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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