MCID: GLY024
MIFTS: 20

Glycogen Storage Disease Type 0, Muscle malady

Genetic diseases, Rare diseases categories
Download this MalaCard

Summaries for Glycogen Storage Disease Type 0, Muscle

About this section
Sources:
47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard
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

About this section
Sources:
62UMLS, 43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 49Orphanet, 26ICD10 via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
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 43 20 22
glycogen storage disease 0, muscle 47 62
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 62
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

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

About this section
Sources:
47OMIM
See all sources


Clinical features from OMIM:

611556

Drugs & Therapeutics for Glycogen Storage Disease Type 0, Muscle

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials
See all sources

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

About this section
Sources:
20GeneTests, 22GTR
See all sources

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

About this section
Sources:
33MalaCards
See all sources

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

About this section

Publications for Glycogen Storage Disease Type 0, Muscle

About this section

Variations for Glycogen Storage Disease Type 0, Muscle

About this section
Sources:
1 National Center for Biotechnology Information (Clinvar)
See all sources

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

About this section
Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section

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

About this section

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

About this section

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Glycogen Storage Disease Type 0, Muscle

About this section
4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet