GenTIGSA Gene Database on Rare Genetic Disorders
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Glycogen Storage Disease, Type V  
Disease Aliases (47)

Deficiencies, muscle phosphorylase

Deficiencies, pygm

Deficiency, muscle phosphorylase

Deficiency, pygm

Disease, mcardle

Disease, mcardle's

Gsd 5

Gsd v

Gsd due to muscle glycogen phosphorylase deficiency

Gsd type 5

Gsd type v

Gsd5

Glycogen storage disease type 5

Glycogen storage disease v

Glycogen storage disease type v

Glycogen storage disease, type v

Glycogenosis 5

Glycogenosis 5s

Glycogenosis due to muscle glycogen phosphorylase deficiency

Glycogenosis type 5

Glycogenosis type v

Glycogenosis, type 5

Mcardle disease

Muscle glycogen phosphorylase deficiency

Myophosphorylase deficiency

Mcardle type glycogen storage disease

Mcardle's disease

Mcardles disease

Mcardle syndrome

Mcardle syndromes

Muscle phosphorylase deficiencies

Muscle phosphorylase deficiency

Myophosphorylase deficiencies

Myophosphorylase deficiency glycogenosis

Pygm deficiency

Pygm deficiencies

Pygm glycogen storage disease

Phosphorylase deficiencies, muscle

Phosphorylase deficiency, muscle

Syndrome, mcardle

Syndromes, mcardle

Deficiencies, myophosphorylase

Deficiency, myophosphorylase

Glycogen storage disease 5

Glycogen storage disease v; gsd5

Glycogen storage disease caused by mutation in pygm

Glycogen storage disease due to muscle glycogen phosphorylase deficiency

Associated Genes (1)
 

NCBI-RefSeq:  PYGM   (Glycogen phosphorylase, muscle associated)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of Glycogen storage disease, type V OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations