MCID: GLY007
MIFTS: 41

Glycogen Storage Disease Iv malady

Genetic diseases, Rare diseases, Neuronal diseases, Liver diseases, Metabolic diseases, Blood diseases, Endocrine diseases, Muscle diseases, Nephrological diseases, Cardiovascular diseases categories

Aliases & Classifications for Glycogen Storage Disease Iv

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Sources:
45OMIM, 9Disease Ontology, 10diseasecard, 19GeneReviews, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 11DISEASES, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 33MeSH, 55SNOMED-CT, 38NCIt, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Glycogen Storage Disease Iv, Aliases & Descriptions:

Name: Glycogen Storage Disease Iv 45 9 10 19 21 11
Glycogen Storage Disease Type Iv 19 41 21 43 60
Glycogen Storage Disease Type 4 41 20 21 47 22
Andersen Disease 19 41 21 47
Amylopectinosis 9 41 21 47
Glycogen Branching Enzyme Deficiency 19 41 21
Gsd Iv 19 41 21
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency 41 47
Glycogenosis Due to Glycogen Branching Enzyme Deficiency 41 47
Gsd Due to Glycogen Branching Enzyme Deficiency 41 47
Brancher Deficiency 41 21
Glycogenosis Type 4 41 47
Glycogenosis 4 41 21
Gsd Type 4 41 47
 
Cirrhosis, Familial, with Deposition of Abnormal Glycogen 41
Deficiency of 1,4-Alpha-Glucan Branching Enzyme 9
Branching-Transferase Deficiency Glycogenosis 9
Glycogen Storage Disease, Type Iv 9
Brancher Deficiency Glycogenosis 9
Branching Enzyme Deficiency 21
Andersen Glycogenosis 21
Glycogenosis, Type Iv 21
Type Iv Glycogenosis 21
Andersen's Disease 21
Glycogenosis Iv 19
Gsd Type Iv 21
Gsd 4 41
Gsd4 21


Classifications:



Characteristics (Orphanet epidemiological data):

47
glycogen storage disease type 4:
Inheritance: Autosomal recessive; Age of onset: Adolescent,Adult,Antenatal,Childhood,Infancy,Neonatal; Age of death: any age


External Ids:

OMIM45 232500
Disease Ontology9 DOID:2750
MeSH33 D006011
NCIt38 C84737
Orphanet47 367
ICD10 via Orphanet26 E74.0
UMLS via Orphanet61 C0017923, C1563715

Summaries for Glycogen Storage Disease Iv

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NIH Rare Diseases:41 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 based summary: Glycogen Storage Disease Iv, also known as glycogen storage disease type iv, is related to glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form and glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form, and has symptoms including muscular hypotonia, hepatic failure and ascites. An important gene associated with Glycogen Storage Disease Iv is GBE1 (glucan (1,4-alpha-), branching enzyme 1). Affiliated tissues include liver and spleen, and related mouse phenotypes are cellular and liver/biliary 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:45 232500

GeneReviews summary for gsd4

Related Diseases for Glycogen Storage Disease Iv

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Diseases in the Glycogen Storage Disease family:

glycogen storage disease iv Glycogen Storage Disease Xv
Glycogen Storage Disease X Glycogen Storage Disease Ib
Glycogen Storage Disease Ic Glycogen Storage Disease Vii
Glycogen Storage Disease Vi Glycogen Storage Disease Ixc
Glycogen Storage Disease Xii Glycogen Storage Disease Xiii
Glycogen Storage Disease Ia Glycogen Storage Disease Ii
Glycogen Storage Disease Iiia Glycogen Storage Disease Viii
Glycogen Storage Disease Ix Glycogen Storage Disease Type 0

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

(show all 15)
idRelated DiseaseScoreTop Affiliating Genes
1glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form10.7
2glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form10.7
3glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form10.7
4glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form10.7
5glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form10.7
6glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form10.7
7glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form10.7
8glycogen storage disease10.6
9hepatitis10.3
10hepatocellular adenoma10.3
11adenoma10.3
12hydrops fetalis10.3
13hypotonia10.3
14autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis10.3
15infantile hypotonia10.1

Graphical network of diseases related to Glycogen Storage Disease Iv:



Diseases related to glycogen storage disease iv

Symptoms for Glycogen Storage Disease Iv

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Symptoms by clinical synopsis from OMIM:

232500

Clinical features from OMIM:

232500

Symptoms:

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

HPO human phenotypes related to Glycogen Storage Disease Iv:

(show all 25)
id Description Frequency HPO Source Accession
1 muscular hypotonia hallmark (90%) HP:0001252
2 hepatic failure hallmark (90%) HP:0001399
3 ascites hallmark (90%) HP:0001541
4 abnormality of metabolism/homeostasis hallmark (90%) HP:0001939
5 abnormality of movement hallmark (90%) HP:0100022
6 hypertrophic cardiomyopathy occasional (7.5%) HP:0001639
7 autosomal recessive inheritance HP:0000007
8 edema HP:0000969
9 muscular hypotonia HP:0001252
10 reduced tendon reflexes HP:0001315
11 muscle weakness HP:0001324
12 cirrhosis HP:0001394
13 hepatic failure HP:0001399
14 portal hypertension HP:0001409
15 hepatosplenomegaly HP:0001433
16 failure to thrive HP:0001508
17 ascites HP:0001541
18 decreased fetal movement HP:0001558
19 polyhydramnios HP:0001561
20 cardiomyopathy HP:0001638
21 hydrops fetalis HP:0001789
22 esophageal varix HP:0002040
23 arthrogryposis multiplex congenita HP:0002804
24 amyotrophy HP:0003202
25 tubulointerstitial fibrosis HP:0005576

Drugs & Therapeutics for Glycogen Storage Disease Iv

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Drug clinical trials:

Search ClinicalTrials for Glycogen Storage Disease Iv

Search NIH Clinical Center for Glycogen Storage Disease Iv

Genetic Tests for Glycogen Storage Disease Iv

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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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MalaCards organs/tissues related to Glycogen Storage Disease Iv:

31
Liver, Spleen

Animal Models for Glycogen Storage Disease Iv or affiliated genes

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MGI Mouse Phenotypes related to Glycogen Storage Disease Iv:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053849.1RBCK1, GBE1
2MP:00053708.8RBCK1, GBE1

Publications for Glycogen Storage Disease Iv

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Articles related to Glycogen Storage Disease Iv:

idTitleAuthorsYear
1
Glycogen-branching enzyme deficiency leads to abnormal cardiac development: novel insights into glycogen storage disease IV. (21075835)
2011
2
Anesthetic management in a child with Glycogen Storage Disease IV. (20519014)
2010
3
Glycogen branching enzyme (GBE1) mutation causing equine glycogen storage disease IV. (15366377)
2004
4
Genetic mapping of GBE1 and its association with glycogen storage disease IV in American Quarter horses. (14970703)
2003
5
Studies in glycogen storage disease. IV. Leukocyte phosphorylase in a family with type VI GSD. (4313495)
1970

Variations for Glycogen Storage Disease Iv

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

62
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

Clinvar genetic disease variations for Glycogen Storage Disease Iv:

6 (show all 15)
id Gene Variation Type Significance SNP ID Assembly Location
1GBE1NM_000158.3(GBE1): c.986A> C (p.Tyr329Ser)single nucleotide variantPathogenicrs80338671GRCh37Chr 3, 81691938: 81691938
2GBE1NM_000158.3(GBE1): c.671T> C (p.Leu224Pro)single nucleotide variantPathogenicrs137852886GRCh37Chr 3, 81698027: 81698027
3GBE1NM_000158.3(GBE1): c.1543C> T (p.Arg515Cys)single nucleotide variantPathogenicrs80338672GRCh37Chr 3, 81627151: 81627151
4GBE1NM_000158.3(GBE1): c.771T> A (p.Phe257Leu)single nucleotide variantPathogenicrs137852887GRCh37Chr 3, 81695554: 81695554
5GBE1NM_000158.3(GBE1): c.1570C> T (p.Arg524Ter)single nucleotide variantPathogenicrs137852888GRCh37Chr 3, 81627124: 81627124
6GBE1NM_000158.3(GBE1): c.1571G> A (p.Arg524Gln)single nucleotide variantPathogenicrs80338673GRCh37Chr 3, 81627123: 81627123
7GBE1NM_000158.3: c.993-?_1618+?deldeletionPathogenicGRCh37Chr 3, 81586246: 81691932
8GBE1NM_000158.3(GBE1): c.143+1G> Asingle nucleotide variantPathogenicrs397515343GRCh37Chr 3, 81810525: 81810525
9GBE1NM_000158.3(GBE1): c.1634A> G (p.His545Arg)single nucleotide variantPathogenicrs137852889GRCh37Chr 3, 81586231: 81586231
10GBE1NM_000158.3(GBE1): c.1774G> T (p.Glu592Ter)single nucleotide variantPathogenicrs137852890GRCh37Chr 3, 81586091: 81586091
11GBE1NM_000158.3(GBE1): c.1883A> G (p.His628Arg)single nucleotide variantPathogenicrs137852891GRCh37Chr 3, 81584397: 81584397
12GBE1NM_000158.3(GBE1): c.691+5G> Csingle nucleotide variantPathogenicrs397515344GRCh37Chr 3, 81698002: 81698002
13GBE1NM_000158.3(GBE1): c.1643G> A (p.Trp548Ter)single nucleotide variantPathogenicrs137852894GRCh37Chr 3, 81586222: 81586222
14c.[708G> C]+[784C> T]undetermined variantPathogenic
15c.[c.38dupA]+[1571G> A]duplicationPathogenic

Expression for genes affiliated with Glycogen Storage Disease Iv

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

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
  • Proteins
  • Kits and Assays

Sources for Glycogen Storage Disease Iv

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet