GSD4
MCID: GLY007
MIFTS: 52

Glycogen Storage Disease Iv (GSD4) malady

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

Summaries for Glycogen Storage Disease Iv

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22Genetics Home Reference, 44NIH Rare Diseases, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
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NIH Rare Diseases:44 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 iv, is related to glycogen storage disease and hepatocellular adenoma, 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 kidney, and related mouse phenotypes are liver/biliary system and muscle.

Genetics Home Reference:22 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:66 Glycogen storage disease type IV is a rare hereditary metabolic disorder. more...

Description from OMIM:48 232500,263570,170390

GeneReviews summary for gsd4

Aliases & Classifications for Glycogen Storage Disease Iv

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9Disease Ontology, 10diseasecard, 20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 11DISEASES, 46Novoseek, 50Orphanet, 63UMLS, 36MeSH, 59SNOMED-CT, 41NCIt, 60SNOMED-CT via Orphanet, 27ICD10 via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
glycogen storage disease type 4:
Inheritance: Autosomal recessive; Age of onset: Variable; Age of death: Any age


Aliases & Descriptions:

glycogen storage disease iv 9 10 20 22 48 11
glycogen storage disease type iv 20 44 22 46 63
glycogen storage disease type 4 44 21 23 22 50
andersen disease 20 44 22 50
amylopectinosis 9 44 22 50
glycogen branching enzyme deficiency 20 44 22
andersen syndrome 48 46 63
gsd iv 20 44 22
brancher deficiency 44 22
glycogenosis 4 44 22
glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form 50
glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form 50
glycogenosis due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form 50
glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form 50
glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form 50
glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form 50
glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form 50
glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form 50
gsd due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form 50
glycogenosis due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form 50
glycogenosis due to glycogen branching enzyme deficiency, congenital neuromuscular form 50
glycogenosis due to glycogen branching enzyme deficiency, non progressive hepatic form 50
glycogenosis due to glycogen branching enzyme deficiency, childhood neuromuscular form 50
gsd due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form 50
glycogenosis due to glycogen branching enzyme deficiency, adult neuromuscular form 50
glycogenosis due to glycogen branching enzyme deficiency, progressive hepatic form 50
gsd due to glycogen branching enzyme deficiency, congenital neuromuscular form 50
glycogen storage disease type 4, childhood combined hepatic and myopathic form 50
gsd due to glycogen branching enzyme deficiency, non progressive hepatic form 50
gsd due to glycogen branching enzyme deficiency, childhood neuromuscular form 50
gsd due to glycogen branching enzyme deficiency, progressive hepatic form 50
gsd due to glycogen branching enzyme deficiency, adult neuromuscular form 50
glycogen storage disease due to glycogen branching enzyme deficiency 50
glycogen storage disease type 4, fatal perinatal neuromuscular form 50
glycogenosis type 4, childhood combined hepatic and myopathic form 50
glycogen storage disease type 4, congenital neuromuscular form 50
glycogen storage disease type 4, non progressive hepatic form 50
gbe deficiency, childhood combined hepatic and myopathic form 50
glycogen storage disease type 4, childhood neuromuscular form 50
cirrhosis, familial, with deposition of abnormal glycogen 44
glycogen storage disease type 4, adult neuromuscular form 50
gsd type 4, childhood combined hepatic and myopathic form 50
glycogen storage disease type 4, progressive hepatic form 50
glycogenosis due to glycogen branching enzyme deficiency 50
glycogenosis type 4, fatal perinatal neuromuscular form 50
gsdiv, childhood combined hepatic and myopathic form 50
gbe deficiency, fatal perinatal neuromuscular form 50
glycogenosis type 4, congenital neuromuscular form 50
glycogenosis type 4, non progressive hepatic form 50
glycogenosis type 4, childhood neuromuscular form 50
deficiency of 1,4-alpha-glucan branching enzyme 9
gsd due to glycogen branching enzyme deficiency 50
gsd type 4, fatal perinatal neuromuscular form 50
glycogenosis type 4, progressive hepatic form 50
gbe deficiency, congenital neuromuscular form 50
glycogenosis type 4, adult neuromuscular form 50
branching-transferase deficiency glycogenosis 9
gbe deficiency, childhood neuromuscular form 50
gbe deficiency, non progressive hepatic form 50
gsd type 4, congenital neuromuscular form 50
gsdiv, fatal perinatal neuromuscular form 50
gsd type 4, non progressive hepatic form 50
gbe deficiency, adult neuromuscular form 50
gbe deficiency, progressive hepatic form 50
gsd type 4, childhood neuromuscular form 50
gsdiv, congenital neuromuscular form 50
gsd type 4, progressive hepatic form 50
gsd type 4, adult neuromuscular form 50
gsdiv, childhood neuromuscular form 50
gsdiv, non progressive hepatic form 50
glycogen storage disease, type iv 9
brancher deficiency glycogenosis 9
gsdiv, adult neuromuscular form 50
gsdiv, progressive hepatic form 50
branching enzyme deficiency 22
glycogen storage disease 63
andersen glycogenosis 22
glycogenosis, type iv 22
type iv glycogenosis 22
glycogenosis type 4 50
andersen's disease 22
glycogenosis iv 20
gsd type iv 22
gsd type 4 50
gsd 4 44
gsd4 22


External Ids:

Disease Ontology9 DOID:2750
MeSH36 D006011
NCIt41 C84737
SNOMED-CT via Orphanet60 422348008, 124267007, 11179002 66937008, more
ICD10 via Orphanet27 E74.0
UMLS via Orphanet64 C0017923, C1563715, C0017922

Related Diseases for Glycogen Storage Disease Iv

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18GeneCards, 19GeneDecks
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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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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

170390

Clinical features from OMIM:

232500,263570,170390

Symptoms:

50 (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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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

Search CenterWatch for Glycogen Storage Disease Iv

Genetic Tests for Glycogen Storage Disease Iv

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21GeneTests, 23GTR
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Genetic tests related to Glycogen Storage Disease Iv:

id Genetic test Affiliating Genes
1 Glycogen Storage Disease Type Iv21 GBE1
2 Glycogen Storage Disease, Type Iv23

Anatomical Context for Glycogen Storage Disease Iv

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34MalaCards
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MalaCards organs/tissues related to Glycogen Storage Disease Iv:

34
Liver, Heart, Kidney, Spleen

Animal Models for Glycogen Storage Disease Iv or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Glycogen Storage Disease Iv:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.2RBCK1, GBE1
2MP:00053699.0KCNJ2, GBE1
3MP:00053888.7KCNJ2, GBE1

Publications for Glycogen Storage Disease Iv

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53PubMed
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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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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Glycogen Storage Disease Iv:

65 (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

Clinvar genetic disease variations for Glycogen Storage Disease Iv:

1 (show all 27)
id Gene Name 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
14KCNJ2NM_000891.2(KCNJ2): c.161G> T (p.Cys54Phe)single nucleotide variantPathogenicrs199473650GRCh37Chr 17, 68171341: 68171341
15KCNJ2NM_000891.2(KCNJ2): c.913A> C (p.Thr305Pro)single nucleotide variantPathogenicrs199473387GRCh37Chr 17, 68172093: 68172093
16c.[708G> C]+[784C> T]undetermined variantPathogenic
17c.[c.38dupA]+[1571G> A]duplicationPathogenic
18KCNJ2NM_000891.2(KCNJ2): c.212A> T (p.Asp71Val)single nucleotide variantPathogenicrs104894575GRCh37Chr 17, 68171392: 68171392
19KCNJ2NM_000891.2(KCNJ2): c.652C> T (p.Arg218Trp)single nucleotide variantPathogenicrs104894578GRCh37Chr 17, 68171832: 68171832
20KCNJ2NM_000891.2(KCNJ2): c.899G> T (p.Gly300Val)single nucleotide variantPathogenicrs104894579GRCh37Chr 17, 68172079: 68172079
21KCNJ2KCNJ2, 12-BP DEL, NT513deletionPathogenic
22KCNJ2KCNJ2, 6-BP DEL, NT1167deletionPathogenic
23KCNJ2NM_000891.2(KCNJ2): c.199C> T (p.Arg67Trp)single nucleotide variantPathogenicrs104894580GRCh37Chr 17, 68171379: 68171379
24KCNJ2NM_000891.2(KCNJ2): c.557C> T (p.Pro186Leu)single nucleotide variantPathogenicrs104894581GRCh37Chr 17, 68171737: 68171737
25KCNJ2NM_000891.2(KCNJ2): c.904G> A (p.Val302Met)single nucleotide variantPathogenicrs104894582GRCh37Chr 17, 68172084: 68172084
26KCNJ2NM_000891.2(KCNJ2): c.646A> C (p.Asn216His)single nucleotide variantPathogenicrs104894583GRCh37Chr 17, 68171826: 68171826
27KCNJ2NM_000891.2(KCNJ2): c.224C> G (p.Thr75Arg)single nucleotide variantPathogenicrs104894585GRCh37Chr 17, 68171404: 68171404

Expression for genes affiliated with Glycogen Storage Disease Iv

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2BioGPS, 16Gene 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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet