MCID: GLY024
MIFTS: 17

Glycogen Storage Disease Type 0, Muscle malady

Metabolic category

Summaries for Glycogen Storage Disease Type 0, Muscle

Sources:
47OMIM, 33MalaCards
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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:47 611556

Aliases & Classifications for Glycogen Storage Disease Type 0, Muscle

Sources:
61UMLS, 43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 49Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Metabolic


Characteristics (Orphanet epidemiological data):

49
glycogen storage disease due to muscle and heart glycogen synthase deficiency:
Inheritance: Sporadic; Prevalence: <1/1000000; Age of onset: Childhood; Age of death: Child / adolescent


Aliases & Descriptions:

glycogen storage disease type 0, muscle 43 20 22
glycogen storage disease 0, muscle 47 61
glycogen storage disease due to muscle and heart glycogen synthase deficiency 49
glycogenosis due to muscle and heart glycogen synthase deficiency 49
gsd due to muscle and heart glycogen synthase deficiency 49
muscle glycogen synthase deficiency 43
glycogen storage disease type 0b 49
glycogen storage disease 61
glycogenosis type 0b 49
gsd type 0b 49


External Ids:

OMIM47 611556
ICD10 via Orphanet26 E74.0

Related Diseases for Glycogen Storage Disease Type 0, Muscle

Sources:
17GeneCards, 18GeneDecks
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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

Clinical Features for Glycogen Storage Disease Type 0, Muscle

Sources:
47OMIM
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Clinical features from OMIM:

611556

Drugs & Therapeutics for Glycogen Storage Disease Type 0, Muscle

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Glycogen Storage Disease Type 0, Muscle

Genetic Tests for Glycogen Storage Disease Type 0, Muscle

Sources:
20GeneTests, 22GTR
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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, Muscle20 GYS1
2 Glycogen Storage Disease 0, Muscle22

Anatomical Context for Glycogen Storage Disease Type 0, Muscle

Sources:
33MalaCards
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MalaCards organs/tissues related to Glycogen Storage Disease Type 0, Muscle:

33
Heart

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

Sources:
28inGenious Targeting Laboratory
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Publications for Glycogen Storage Disease Type 0, Muscle

Genetic Variations for Glycogen Storage Disease Type 0, Muscle

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

Sources:
1BioGPS, 15Gene 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

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

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

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Glycogen Storage Disease Type 0, Muscle

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