GSD4
MCID: GLY007
MIFTS: 64

Glycogen Storage Disease Iv (GSD4) malady

Neuronal diseases, Liver diseases, Metabolic diseases, Genetic diseases categories

Summaries for Glycogen Storage Disease Iv

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Sources:
21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 Glycogen storage disease type 4 (gsd 4) is part of a group of disorders which lead to abnormal accumulation of glycogen (a storage form of glucose) in various parts of the body. symptoms of gsd 4 usually begin in infancy and typically include failure to thrive; enlarged liver and spleen (hepatosplenomegaly); and in many cases, progressive liver cirrhosis and liver failure. in rare cases individuals may have a form with non-progressive liver disease, or a severe neuromuscular form. gsd 4 is caused by mutations in the gbe1 gene and is inherited in an autosomal recessive manner. treatment typically focuses on the specific symptoms that are present in each individual. last updated: 12/23/2012

MalaCards: Glycogen Storage Disease Iv, also known as glycogen storage disease type 4, is related to glycogen storage disease ii and glycogen storage disease i, and has symptoms including movement disorder, hepatocellular liver disease/hepatic failure and hepatitis/icterus/cholestasis. An important gene associated with Glycogen Storage Disease Iv is GBE1 (glucan (1,4-alpha-), branching enzyme 1). Affiliated tissues include liver, heart and spleen, and related mouse phenotypes are cardiovascular system and respiratory system.

Genetics Home Reference:21 Glycogen storage disease type IV (GSD IV) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulated glycogen is structurally abnormal and impairs the function of certain organs and tissues, especially the liver and muscles. There are five types of GSD IV, which are distinguished by their severity, signs, and symptoms.

Wikipedia:63 Glycogen storage disease type IV is a rare hereditary metabolic disorder. more...

Description from OMIM:46 232500,263570,170390

GeneReviews summary for gsd4

Aliases & Classifications for Glycogen Storage Disease Iv

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Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 21Genetics Home Reference, 46OMIM, 10DISEASES, 42NIH Rare Diseases, 48Orphanet, 44Novoseek, 60UMLS, 20GeneTests, 22GTR, 39NCIt, 34MeSH, 56SNOMED-CT, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
glycogen storage disease type 4:
Inheritance: Autosomal recessive; Age of onset: Variable; Age of death: Any age


Aliases & Descriptions:

glycogen storage disease iv 8 9 19 21 46 10
glycogen storage disease type 4 42 20 22 21 48
glycogen storage disease type iv 19 21 44 60
andersen disease 19 42 21 48
amylopectinosis 8 42 21 48
glycogen branching enzyme deficiency 19 42 21
andersen syndrome 46 44 60
brancher deficiency 42 21
gsd iv 19 21
glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form 48
glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form 48
glycogenosis due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form 48
glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form 48
glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form 48
glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form 48
glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form 48
gsd due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form 48
glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form 48
glycogenosis due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form 48
glycogenosis due to glycogen branching enzyme deficiency, congenital neuromuscular form 48
glycogenosis due to glycogen branching enzyme deficiency, non progressive hepatic form 48
glycogenosis due to glycogen branching enzyme deficiency, childhood neuromuscular form 48
gsd due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form 48
glycogenosis due to glycogen branching enzyme deficiency, progressive hepatic form 48
glycogenosis due to glycogen branching enzyme deficiency, adult neuromuscular form 48
glycogen storage disease type 4, childhood combined hepatic and myopathic form 48
gsd due to glycogen branching enzyme deficiency, congenital neuromuscular form 48
gsd due to glycogen branching enzyme deficiency, childhood neuromuscular form 48
gsd due to glycogen branching enzyme deficiency, non progressive hepatic form 48
gsd due to glycogen branching enzyme deficiency, progressive hepatic form 48
gsd due to glycogen branching enzyme deficiency, adult neuromuscular form 48
glycogen storage disease due to glycogen branching enzyme deficiency 48
glycogen storage disease type 4, fatal perinatal neuromuscular form 48
glycogenosis type 4, childhood combined hepatic and myopathic form 48
glycogen storage disease type 4, congenital neuromuscular form 48
glycogen storage disease type 4, non progressive hepatic form 48
glycogen storage disease type 4, childhood neuromuscular form 48
gbe deficiency, childhood combined hepatic and myopathic form 48
cirrhosis, familial, with deposition of abnormal glycogen 42
glycogen storage disease type 4, adult neuromuscular form 48
gsd type 4, childhood combined hepatic and myopathic form 48
glycogen storage disease type 4, progressive hepatic form 48
glycogenosis due to glycogen branching enzyme deficiency 48
glycogenosis type 4, fatal perinatal neuromuscular form 48
gsdiv, childhood combined hepatic and myopathic form 48
gbe deficiency, fatal perinatal neuromuscular form 48
glycogenosis type 4, congenital neuromuscular form 48
glycogenosis type 4, non progressive hepatic form 48
glycogenosis type 4, childhood neuromuscular form 48
deficiency of 1,4-alpha-glucan branching enzyme 8
gsd due to glycogen branching enzyme deficiency 48
gsd type 4, fatal perinatal neuromuscular form 48
gbe deficiency, congenital neuromuscular form 48
glycogenosis type 4, adult neuromuscular form 48
branching-transferase deficiency glycogenosis 8
glycogenosis type 4, progressive hepatic form 48
gbe deficiency, non progressive hepatic form 48
gbe deficiency, childhood neuromuscular form 48
gsd type 4, congenital neuromuscular form 48
gsdiv, fatal perinatal neuromuscular form 48
gsd type 4, non progressive hepatic form 48
gsd type 4, childhood neuromuscular form 48
gbe deficiency, progressive hepatic form 48
gbe deficiency, adult neuromuscular form 48
gsd type 4, adult neuromuscular form 48
gsd type 4, progressive hepatic form 48
gsdiv, congenital neuromuscular form 48
gsdiv, non progressive hepatic form 48
gsdiv, childhood neuromuscular form 48
glycogen storage disease, type iv 8
brancher deficiency glycogenosis 8
gsdiv, progressive hepatic form 48
gsdiv, adult neuromuscular form 48
branching enzyme deficiency 21
glycogen storage disease 60
glycogenosis, type iv 21
andersen glycogenosis 21
type iv glycogenosis 21
glycogenosis type 4 48
andersen's disease 21
glycogenosis iv 19
glycogenosis 4 21
gsd type iv 21
gsd type 4 48
gsd4 21


External Ids:

Disease Ontology8 DOID:2750
NCIt39 C84737
MeSH34 D006011
SNOMED-CT via Orphanet57 422348008, 124267007, 11179002 66937008, more
ICD10 via Orphanet26 E74.0

Related Diseases for Glycogen Storage Disease Iv

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Glycogen Storage Disease Ii family:

Glycogen Storage Disease Viii glycogen storage disease iv
Glycogen Storage Disease Vi Glycogen Storage Disease V
Glycogen Storage Disease I Glycogen Storage Disease Iii
Glycogen Storage Disease Ix Glycogen Storage Disease Xv
Glycogen Storage Disease Vii Glycogen Storage Disease
Glycogen Storage Disease Type 12 Glycogen Storage Disease Type 13
Glycogen Storage Disease Type 1a Glycogen Storage Disease Type 1b
Glycogen Storage Disease Type 0 Glycogen Storage Disease Type 14
Glycogen Storage Disease Iiia Glycogen Storage Disease Iiib
Glycogen Storage Disease Ic Glycogen Storage Disease Ixc
Glycogen Storage Disease Xii

Diseases related to Glycogen Storage Disease Iv via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 141)
idRelated DiseaseScoreTop Affiliating Genes
1glycogen storage disease ii11.1
2glycogen storage disease i11.1
3glycogen storage disease iii11.1
4glycogen storage disease v10.9
5glycogen storage disease type 1a10.8
6glycogen storage disease type 010.8
7lysosomal storage disease10.7
8glycogen storage disease vii10.7
9neuromuscular disease10.7
10glycogen storage disease type 1310.7
11phosphorylase kinase deficiency10.7
12danon disease10.6
13glycogen storage disease xv10.6
14hepatitis a10.6
15hepatocellular carcinoma10.6
16neutropenia10.6
17fanconi bickel syndrome10.6
18glycogen storage disease ix10.6
19hypoglycemia10.6
20glycogen storage disease type 1210.6
21glycogen storage disease type 0, muscle10.6
22glycogen storage disease10.6
23glycogen storage disease, type ixa110.6
24muscle glycogenosis10.6
25glycogen storage disease due to phosphorylase kinase deficiency10.6
26glycogen storage disease viii10.6
27phosphoglycerate mutase deficiency10.6
28glycogen storage disease iiia10.6
29liver disease10.5
30phosphorylase kinase deficiency of liver and muscle, autosomal recessive10.5
31chromosomal disease10.5
32kidney disease10.5
33glycogen storage disease type 1b10.5
34lethal congenital glycogen storage disease of the heart10.5
35glycogen storage disease due to acid maltase deficiency, adult onset10.5
36hypertrophic cardiomyopathy10.5
37atherosclerosis10.5
38lipid storage disease10.5
39juvenile hereditary hemochromatosis10.5
40glycogen storage disease xii10.5
41glycogen storage disease due to acid maltase deficiency, juvenile onset10.5
42glycogen storage disease due to acid maltase deficiency, infantile onset10.5
43nephrolithiasis10.4
44hypertension10.4
45inflammatory bowel disease10.4
46gout10.3
47fanconi syndrome10.3
48diabetes mellitus10.3
49liver cirrhosis10.3
50myopathy10.3

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



Diseases related to glycogen storage disease iv

Clinical Features for Glycogen Storage Disease Iv

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

232500,263570,170390

Clinical synopsis from OMIM:

170390

Symptoms:

48 (show all 9)
  • movement disorder
  • hepatocellular liver disease/hepatic failure
  • hepatitis/icterus/cholestasis
  • ascitis
  • cardiomyopathy/hypertrophic/dilated
  • metabolic anomalies
  • storage liver disease
  • hypotonia
  • autosomal recessive inheritance

Drugs & Therapeutics for Glycogen Storage Disease Iv

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

Search ClinicalTrials for Glycogen Storage Disease Iv

Search NIH Clinical Center for Glycogen Storage Disease Iv

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Genetic Tests for Glycogen Storage Disease Iv

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20GeneTests, 22GTR
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Genetic tests related to Glycogen Storage Disease Iv:

id Genetic test Affiliating Genes
1 Glycogen Storage Disease Type Iv20 GBE1
2 Glycogen Storage Disease, Type Iv22

Anatomical Context for Glycogen Storage Disease Iv

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32MalaCards
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MalaCards organs/tissues related to Glycogen Storage Disease Iv:

32
Liver, Heart, Spleen, Kidney, Skeletal muscle, Brain, Skin

Animal Models for Glycogen Storage Disease Iv or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Glycogen Storage Disease Iv:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053859.1GBE1, KCNJ2
2MP:00053889.0GBE1, KCNJ2
3MP:00053698.8GBE1, KCNJ2

Publications for Glycogen Storage Disease Iv

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Sources:
50PubMed
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Articles related to Glycogen Storage Disease Iv:

(show all 40)
idTitleAuthorsYear
1
Neonatal presentation of lethal neuromuscular glycogen storage disease type IV. (23014386)
2012
2
Diffuse reticuloendothelial system involvement in type IV glycogen storage disease with a novel GBE1 mutation: a case report and review. (22305237)
2012
3
Association of the congenital neuromuscular form of glycogen storage disease type IV with a large deletion and recurrent frameshift mutation. (21917543)
2012
4
Cardiac Involvement in Glycogen Storage Disease Type IV: Two Cases and the Two Ends of a Spectrum. (23056054)
2012
5
Glycogen-branching enzyme deficiency leads to abnormal cardiac development: novel insights into glycogen storage disease IV. (21075835)
2011
6
Liver biopsy is an important procedure in the diagnosis of glycogen storage disease type IV. (21342345)
2011
7
Systemic progression of type IV glycogen storage disease after liver transplantation. (20531024)
2010
8
Anesthetic management in a child with Glycogen Storage Disease IV. (20519014)
2010
9
PGD for glycogen storage disease type IV: birth of healthy twins following successful clinical application of a mutation-specific protocol. (20063322)
2010
10
Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder. (20058079)
2010
11
Hepatocellular carcinoma in an adult patient with type IV glycogen storage disease. (19902877)
2009
12
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
13
Living Donor Liver Transplantation in a Korean Child with Glycogen Storage Disease Type IV and a GBE1 Mutation. (20479904)
2009
14
A case of congenital glycogen storage disease type IV with a novel GBE1 mutation. (18230843)
2008
15
Placental involvement in glycogen storage disease type IV. (18289670)
2008
16
Null mutations and lethal congenital form of glycogen storage disease type IV. (17662246)
2007
17
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
18
Neonatal neuromuscular variant of glycogen storage disease type IV: histopathological findings leading to the diagnosis. (16722943)
2006
19
Prenatal diagnosis of glycogen storage disease type IV. (16874838)
2006
20
Non-lethal congenital hypotonia due to glycogen storage disease type IV. (16528737)
2006
21
Fetal type IV glycogen storage disease: clinical, enzymatic, and genetic data of a pure muscular form with variable and early antenatal manifestations in the same family. (16278887)
2005
22
Neonatal type IV glycogen storage disease associated with "null" mutations in glycogen branching enzyme 1. (15520786)
2004
23
Glycogen branching enzyme (GBE1) mutation causing equine glycogen storage disease IV. (15366377)
2004
24
Fatal infantile neuromuscular presentation of glycogen storage disease type IV. (15019703)
2004
25
Congenital form of glycogen storage disease type IV: a case report and a review of the literature. (15310318)
2004
26
Genetic mapping of GBE1 and its association with glycogen storage disease IV in American Quarter horses. (14970703)
2003
27
A neonatal form of glycogen storage disease type IV. (12913206)
2003
28
Type IV glycogen storage disease. (12013018)
2002
29
The variable presentations of glycogen storage disease type IV: a review of clinical, enzymatic and molecular studies. (11949934)
2002
30
Prenatal diagnosis of glycogen storage disease type IV using PCR-based DNA mutation analysis. (10521841)
1999
31
Glycogen storage disease type IV: a case report. (10533307)
1999
32
Glycogen storage disease type IV presenting as hydrops fetalis. (10384399)
1999
33
Glycogen storage disease type IV: a case report. (9610625)
1998
34
Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene. (8613547)
1996
35
Hepatocellular adenoma in glycogen storage disease type IV. (8285839)
1994
36
Chimerism after liver transplantation for type IV glycogen storage disease and type 1 Gaucher's disease. (8437594)
1993
37
Glycogen Storage Disease Type IV (23285490)
1993
38
Studies of the residual glycogen branching enzyme activity present in human skin fibroblasts from patients with type IV glycogen storage disease. (6220706)
1983
39
Studies in glycogen storage disease. IV. Leukocyte phosphorylase in a family with type VI GSD. (4313495)
1970
40
Fructose metabolism. IV. Enzyme deficiencies: essential fructosuria, fructose intolerance, and glycogen-storage disease. (4875257)
1968

Genetic Variations for Glycogen Storage Disease Iv

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Glycogen Storage Disease Iv:

62 (show all 17)
id Symbol AA change Variation ID SNP ID
1GBE1p.Leu224ProVAR_022429
2GBE1p.Phe257LeuVAR_022430
3GBE1p.Tyr329SerVAR_022431
4GBE1p.Arg515CysVAR_022432
5GBE1p.Arg524GlnVAR_022434
6GBE1p.His545ArgVAR_022435
7GBE1p.His628ArgVAR_022436
8KCNJ2p.Arg67TrpVAR_017851
9KCNJ2p.Asp71ValVAR_017852
10KCNJ2p.Pro186LeuVAR_017854
11KCNJ2p.Asn216HisVAR_017855
12KCNJ2p.Arg218TrpVAR_017856
13KCNJ2p.Gly300ValVAR_017857
14KCNJ2p.Val302MetVAR_017858
15KCNJ2p.Cys54PheVAR_065861
16KCNJ2p.Thr75ArgVAR_065862
17KCNJ2p.Thr305ProVAR_065864

Expression for genes affiliated with Glycogen Storage Disease Iv

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Glycogen Storage Disease Iv

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Pathways for genes affiliated with Glycogen Storage Disease Iv

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Compounds for genes affiliated with Glycogen Storage Disease Iv

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GO Terms for genes affiliated with Glycogen Storage Disease Iv

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Products for genes affiliated with Glycogen Storage Disease Iv

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Glycogen Storage Disease Iv

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet