MCID: GLY024
MIFTS: 21

Glycogen Storage Disease Type 0, Muscle malady

Genetic diseases, Rare diseases, Metabolic diseases categories
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Summaries for Glycogen Storage Disease Type 0, Muscle

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MalaCards based summary: Glycogen Storage Disease Type 0, Muscle, also known as muscle glycogen synthase deficiency, is related to glycogen storage disease type 0, and has symptoms including 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:
42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 48Orphanet, 62UMLS, 26ICD10 via Orphanet
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Glycogen Storage Disease Type 0, Muscle, Aliases & Descriptions:

Name: Glycogen Storage Disease Type 0, Muscle 42 20 22
Muscle Glycogen Synthase Deficiency 42 62
Glycogen Storage Disease 0, Muscle 46 62
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
Glycogen Storage Disease Type 0b 48
Glycogenosis Type 0b 48
Gsd Type 0b 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
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


External Ids:

OMIM46 611556
ICD10 via Orphanet26 E74.0

Related Diseases for Glycogen Storage Disease Type 0, Muscle

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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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Symptoms by clinical synopsis from OMIM:

611556

Clinical features from OMIM:

611556

HPO human phenotypes related to Glycogen Storage Disease Type 0, Muscle:

(show all 6)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 cardiomyopathy HP:0001638
3 left ventricular hypertrophy HP:0001712
4 generalized tonic-clonic seizures HP:0002069
5 exercise intolerance HP:0003546
6 decreased muscle glycogen content HP:0012270

Drugs & Therapeutics for Glycogen Storage Disease Type 0, Muscle

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Drug clinical trials:

Search ClinicalTrials for Glycogen Storage Disease Type 0, Muscle

Search NIH Clinical Center for Glycogen Storage Disease Type 0, Muscle

Genetic Tests for Glycogen Storage Disease Type 0, Muscle

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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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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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Variations for Glycogen Storage Disease Type 0, Muscle

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Clinvar genetic disease variations for Glycogen Storage Disease Type 0, Muscle:

6
id Gene Name Type Significance SNP ID Assembly Location
1GYS1NM_002103.4(GYS1): c.162_163delAG (p.Asp56Argfs)deletionPathogenicGRCh38Chr 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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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet