MCID: GLY061
MIFTS: 16

Glycogen Storage Disease 0, Muscle malady

Genetic diseases, Rare diseases categories

Aliases & Classifications for Glycogen Storage Disease 0, Muscle

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Aliases & Descriptions for Glycogen Storage Disease 0, Muscle:

Name: Glycogen Storage Disease 0, Muscle 46 9 61
Glycogen Storage Disease Type 0, Muscle 42 20 22
 
Muscle Glycogen Synthase Deficiency 42


Classifications:



External Ids:

OMIM46 611556

Summaries for Glycogen Storage Disease 0, Muscle

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MalaCards based summary: Glycogen Storage Disease 0, Muscle, also known as glycogen storage disease type 0, muscle, is related to glycogen storage disease type 0, and has symptoms including autosomal recessive inheritance, cardiomyopathy and left ventricular hypertrophy. An important gene associated with Glycogen Storage Disease 0, Muscle is GYS1 (glycogen synthase 1 (muscle)).

Description from OMIM:46 611556

Related Diseases for Glycogen Storage Disease 0, Muscle

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Diseases related to Glycogen Storage Disease 0, Muscle via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1glycogen storage disease type 010.4

Symptoms for Glycogen Storage Disease 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 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 0, Muscle

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Drug clinical trials:

Search ClinicalTrials for Glycogen Storage Disease 0, Muscle

Search NIH Clinical Center for Glycogen Storage Disease 0, Muscle

Genetic Tests for Glycogen Storage Disease 0, Muscle

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Genetic tests related to Glycogen Storage Disease 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 0, Muscle

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

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Publications for Glycogen Storage Disease 0, Muscle

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Variations for Glycogen Storage Disease 0, Muscle

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

5
id Gene Variation 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 0, Muscle

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

Pathways for genes affiliated with Glycogen Storage Disease 0, Muscle

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Compounds for genes affiliated with Glycogen Storage Disease 0, Muscle

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

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Sources for Glycogen Storage Disease 0, Muscle

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet