MCID: GLY024
MIFTS: 19

Glycogen Storage Disease Type 0, Muscle malady

Metabolic diseases category

Summaries for Glycogen Storage Disease Type 0, Muscle

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46OMIM, 32MalaCards
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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:46 611556

Aliases & Classifications for Glycogen Storage Disease Type 0, Muscle

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Sources:
60UMLS, 42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 48Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases


Characteristics (Orphanet epidemiological data):

48
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 42 20 22
glycogen storage disease 0, muscle 46 60
glycogen storage disease due to muscle and heart glycogen synthase deficiency 48
glycogenosis due to muscle and heart glycogen synthase deficiency 48
gsd due to muscle and heart glycogen synthase deficiency 48
muscle glycogen synthase deficiency 42
glycogen storage disease type 0b 48
glycogen storage disease 60
glycogenosis type 0b 48
gsd type 0b 48


External Ids:

OMIM46 611556
ICD10 via Orphanet26 E74.0

Related Diseases for Glycogen Storage Disease Type 0, Muscle

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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 010.3

Clinical Features for Glycogen Storage Disease Type 0, Muscle

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46OMIM
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Clinical features from OMIM:

611556

Drugs & Therapeutics for Glycogen Storage Disease Type 0, Muscle

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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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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

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32MalaCards
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MalaCards organs/tissues related to Glycogen Storage Disease Type 0, Muscle:

32
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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Genetic Variations for Glycogen Storage Disease Type 0, Muscle

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

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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

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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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet