GSD4
MCID: GLY007
MIFTS: 47

Glycogen Storage Disease Iv (GSD4) malady

Neuronal, Liver, Metabolic, Genetic categories

Summaries for Glycogen Storage Disease Iv

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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 vi and glycogen storage disease ii, and has symptoms including autosomal recessive inheritance, hypotonia and storage liver disease. An important gene associated with Glycogen Storage Disease Iv is GBE1 (glucan (1,4-alpha-), branching enzyme 1). Affiliated tissues include liver, kidney 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:64 Glycogen storage disease type IV is a rare hereditary metabolic disorder. more...

Description from OMIM:47 232500,263570,170390

GeneReviews summary for gsd4

Aliases & Classifications for Glycogen Storage Disease Iv

Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 40NCIt, 35MeSH, 57SNOMED-CT, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic
Anatomical: Neuronal, Liver, Metabolic


Characteristics (Orphanet epidemiological data):

49
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 47 10
glycogen storage disease type 4 43 20 22 21 49
glycogen storage disease type iv 19 21 45 61
andersen disease 19 43 21 49
amylopectinosis 8 43 21 49
glycogen branching enzyme deficiency 19 43 21
andersen syndrome 47 45 61
brancher deficiency 43 21
gsd iv 19 21
glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form 49
glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form 49
glycogenosis due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form 49
glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form 49
glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form 49
glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form 49
gsd due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form 49
glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form 49
glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form 49
glycogenosis due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form 49
glycogenosis due to glycogen branching enzyme deficiency, congenital neuromuscular form 49
glycogenosis due to glycogen branching enzyme deficiency, non progressive hepatic form 49
glycogenosis due to glycogen branching enzyme deficiency, childhood neuromuscular form 49
gsd due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form 49
glycogenosis due to glycogen branching enzyme deficiency, adult neuromuscular form 49
glycogenosis due to glycogen branching enzyme deficiency, progressive hepatic form 49
glycogen storage disease type 4, childhood combined hepatic and myopathic form 49
gsd due to glycogen branching enzyme deficiency, congenital neuromuscular form 49
gsd due to glycogen branching enzyme deficiency, childhood neuromuscular form 49
gsd due to glycogen branching enzyme deficiency, non progressive hepatic form 49
gsd due to glycogen branching enzyme deficiency, adult neuromuscular form 49
gsd due to glycogen branching enzyme deficiency, progressive hepatic form 49
glycogen storage disease due to glycogen branching enzyme deficiency 49
glycogen storage disease type 4, fatal perinatal neuromuscular form 49
glycogenosis type 4, childhood combined hepatic and myopathic form 49
glycogen storage disease type 4, congenital neuromuscular form 49
glycogen storage disease type 4, non progressive hepatic form 49
glycogen storage disease type 4, childhood neuromuscular form 49
gbe deficiency, childhood combined hepatic and myopathic form 49
cirrhosis, familial, with deposition of abnormal glycogen 43
glycogen storage disease type 4, adult neuromuscular form 49
gsd type 4, childhood combined hepatic and myopathic form 49
glycogen storage disease type 4, progressive hepatic form 49
glycogenosis due to glycogen branching enzyme deficiency 49
glycogenosis type 4, fatal perinatal neuromuscular form 49
gsdiv, childhood combined hepatic and myopathic form 49
glycogenosis type 4, congenital neuromuscular form 49
gbe deficiency, fatal perinatal neuromuscular form 49
glycogenosis type 4, non progressive hepatic form 49
glycogenosis type 4, childhood neuromuscular form 49
deficiency of 1,4-alpha-glucan branching enzyme 8
gsd due to glycogen branching enzyme deficiency 49
gsd type 4, fatal perinatal neuromuscular form 49
glycogenosis type 4, progressive hepatic form 49
branching-transferase deficiency glycogenosis 8
glycogenosis type 4, adult neuromuscular form 49
gbe deficiency, congenital neuromuscular form 49
gbe deficiency, non progressive hepatic form 49
gbe deficiency, childhood neuromuscular form 49
gsd type 4, congenital neuromuscular form 49
gsdiv, fatal perinatal neuromuscular form 49
gbe deficiency, adult neuromuscular form 49
gbe deficiency, progressive hepatic form 49
gsd type 4, childhood neuromuscular form 49
gsd type 4, non progressive hepatic form 49
gsd type 4, adult neuromuscular form 49
gsd type 4, progressive hepatic form 49
gsdiv, congenital neuromuscular form 49
gsdiv, non progressive hepatic form 49
gsdiv, childhood neuromuscular form 49
glycogen storage disease, type iv 8
brancher deficiency glycogenosis 8
gsdiv, adult neuromuscular form 49
gsdiv, progressive hepatic form 49
branching enzyme deficiency 21
glycogen storage disease 61
andersen glycogenosis 21
glycogenosis, type iv 21
type iv glycogenosis 21
glycogenosis type 4 49
andersen's disease 21
glycogenosis iv 19
glycogenosis 4 21
gsd type iv 21
gsd type 4 49
gsd4 21


External Ids:

Disease Ontology8 DOID:2750
NCIt40 C84737
MeSH35 D006011
ICD10 via Orphanet26 E74.0

Related Diseases for Glycogen Storage Disease Iv

Sources:
17GeneCards, 18GeneDecks
See all sources

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 123)
idRelated DiseaseScoreTop Affiliating Genes
1glycogen storage disease vi11.0
2glycogen storage disease ii11.0
3glycogen storage disease iii11.0
4glycogen storage disease type 1a10.9
5glycogen storage disease iiia10.8
6glycogen storage disease type 010.7
7glycogen storage disease vii10.7
8danon disease10.7
9phosphorylase kinase deficiency10.7
10glycogen storage disease type 1310.7
11glycogen storage disease xv10.7
12fanconi bickel syndrome10.7
13phosphorylase kinase deficiency of liver and muscle, autosomal recessive10.7
14hypoglycemia10.6
15glycogen storage disease type 0, muscle10.6
16lip disease10.6
17glycogen storage disease viii10.6
18glycogen storage disease type 1210.6
19glycogen storage disease, type ixa110.6
20phosphoglycerate mutase deficiency10.6
21glycogen storage disease type 1b10.5
22lethal congenital glycogen storage disease of the heart10.5
23gout10.5
24crohn's disease10.5
25hypertrophic cardiomyopathy10.5
26atherosclerosis10.5
27glycogen storage disease due to acid maltase deficiency, adult onset10.5
28glycogen storage disease v10.5
29nephrolithiasis10.4
30juvenile hereditary hemochromatosis10.4
31glycogen storage disease xii10.4
32nutrition disease10.4
33glycogen storage disease due to acid maltase deficiency, juvenile onset10.4
34glycogen storage disease due to acid maltase deficiency, infantile onset10.4
35fanconi syndrome10.4
36dent's disease10.4
37glycogen storage disease type 1410.4
38glycogen storage disease iiib10.4
39glycogen storage disease ic10.4
40glycogen storage disease ixc10.4
41andersen-tawil syndrome10.3
42adenoma10.3
43brain disease10.3
44hydrops fetalis10.3
45hypotonia10.3
46hepatocellular adenoma10.3
47niemann-pick disease10.3
48biliary atresia10.3
49glycogen storage disease ix10.3
50biotin deficiency10.3

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

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

232500,263570,170390

Clinical synopsis from OMIM:

170390

Symptoms:

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

Drugs & Therapeutics for Glycogen Storage Disease Iv

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Glycogen Storage Disease Iv

Drug clinical trials:

Search ClinicalTrials for Glycogen Storage Disease Iv

Search NIH Clinical Center for Glycogen Storage Disease Iv

Search CenterWatch for Glycogen Storage Disease Iv

Genetic Tests for Glycogen Storage Disease Iv

Sources:
20GeneTests, 22GTR
See all sources

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

Sources:
33MalaCards
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MalaCards organs/tissues related to Glycogen Storage Disease Iv:

33
Liver, Kidney, Spleen, Heart, Skeletal muscle

Animal Models for Glycogen Storage Disease Iv or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Glycogen Storage Disease Iv:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053859.1GBE1, KCNJ2
2MP:00053889.0GBE1, KCNJ2
3MP:00053698.8GBE1, KCNJ2

Publications for Glycogen Storage Disease Iv

Sources:
51PubMed
See all sources

Articles related to Glycogen Storage Disease Iv:

idTitleAuthorsYear
1
Homozygosity for multiple contiguous single-nucleotide polymorphisms as an indicator of large heterozygous deletions: identification of a novel heterozygous 8-kb intragenic deletion (IVS7-19 to IVS15-17) in a patient with glycogen storage disease type II. (11854868)
2002
2
Aberrant splicing at catalytic site as cause of infantile onset glycogen storage disease type II (GSDII): molecular identification of a novel IVS9 (+2GT-->GC) in combination with rare IVS10 (+1GT-->CT). (11343339)
2001
3
A novel point mutation in an acceptor splice site of intron 32 (IVS32 A-12-->G) but no exon 3 mutations in the glycogen debranching enzyme gene in a homozygous patient with glycogen storage disease type IIIb. (9490286)
1998
4
Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (-13T-->G) mutation in a majority of patients and a novel IVS10 (+1GT-->CT) mutation. (7881425)
1994

Genetic Variations for Glycogen Storage Disease Iv

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Glycogen Storage Disease Iv:

63 (show all 17)
id Symbol AA change Variation 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

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

Search GEO for disease gene expression data for Glycogen Storage Disease Iv.

Pathways for genes affiliated with Glycogen Storage Disease Iv

Compounds for genes affiliated with Glycogen Storage Disease Iv

GO Terms for genes affiliated with Glycogen Storage Disease Iv

Products for genes affiliated with Glycogen Storage Disease Iv

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Glycogen Storage Disease Iv

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet