MCID: GLY024
MIFTS: 20

Glycogen Storage Disease Type 0, Muscle malady

Genetic diseases, Rare diseases categories

Summaries for Glycogen Storage Disease Type 0, Muscle

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48OMIM, 34MalaCards
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MalaCards: Glycogen Storage Disease Type 0, Muscle, also known as glycogen storage disease 0, muscle, is related to glycogen storage disease type 0. An important gene associated with Glycogen Storage Disease Type 0, Muscle is GYS1 (glycogen synthase 1 (muscle)). Affiliated tissues include heart.

Description from OMIM:48 611556

Aliases & Classifications for Glycogen Storage Disease Type 0, Muscle

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Sources:
63UMLS, 44NIH Rare Diseases, 21GeneTests, 23GTR, 48OMIM, 50Orphanet, 27ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


Characteristics (Orphanet epidemiological data):

50
glycogen storage disease due to muscle and heart glycogen synthase deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood; Age of death: Child / adolescent


Aliases & Descriptions:

glycogen storage disease type 0, muscle 44 21 23
glycogen storage disease 0, muscle 48 63
glycogen storage disease due to muscle and heart glycogen synthase deficiency 50
glycogenosis due to muscle and heart glycogen synthase deficiency 50
gsd due to muscle and heart glycogen synthase deficiency 50
muscle glycogen synthase deficiency 44
glycogen storage disease type 0b 50
glycogen storage disease 63
glycogenosis type 0b 50
gsd type 0b 50


External Ids:

OMIM48 611556
ICD10 via Orphanet27 E74.0

Related Diseases for Glycogen Storage Disease Type 0, Muscle

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18GeneCards, 19GeneDecks
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Diseases related to Glycogen Storage Disease Type 0, Muscle via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1glycogen storage disease type 010.4

Symptoms for Glycogen Storage Disease Type 0, Muscle

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48OMIM
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Clinical features from OMIM:

611556

Drugs & Therapeutics for Glycogen Storage Disease Type 0, Muscle

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Glycogen Storage Disease Type 0, Muscle

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21GeneTests, 23GTR
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Genetic tests related to Glycogen Storage Disease Type 0, Muscle:

id Genetic test Affiliating Genes
1 Glycogen Storage Disease Type 0, Muscle21 GYS1
2 Glycogen Storage Disease 0, Muscle23

Anatomical Context for Glycogen Storage Disease Type 0, Muscle

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34MalaCards
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MalaCards organs/tissues related to Glycogen Storage Disease Type 0, Muscle:

34
Heart

Animal Models for Glycogen Storage Disease Type 0, Muscle or affiliated genes

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Publications for Glycogen Storage Disease Type 0, Muscle

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Variations for Glycogen Storage Disease Type 0, Muscle

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Sources:
1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Glycogen Storage Disease Type 0, Muscle:

1
id Gene Name Type Significance SNP ID Assembly Location
1GYS1NM_002103.4(GYS1): c.162_163delAG (p.Asp56Argfs)deletionPathogenic/card/glycogen_storage_disease_type_0_muscleGRCh38Chr 19, 48991439: 48991440
2GYS1NM_002103.4(GYS1): c.1384C> T (p.Arg462Ter)single nucleotide variantPathogenicrs121434584GRCh37Chr 19, 49477915: 49477915

Expression for genes affiliated with Glycogen Storage Disease Type 0, Muscle

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Glycogen Storage Disease Type 0, Muscle

Search GEO for disease gene expression data for Glycogen Storage Disease Type 0, Muscle.

Pathways for genes affiliated with Glycogen Storage Disease Type 0, Muscle

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Compounds for genes affiliated with Glycogen Storage Disease Type 0, Muscle

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GO Terms for genes affiliated with Glycogen Storage Disease Type 0, Muscle

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Products for genes affiliated with Glycogen Storage Disease Type 0, Muscle

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Glycogen Storage Disease Type 0, Muscle

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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