GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version
Glycogen Storage Disease, Type VII  
Disease Aliases (38)

Deficiencies, muscle phosphofructokinase

Deficiencies, pfkm

Deficiency, muscle phosphofructokinase

Deficiency, pfkm

Disease, tarui

Disease, tarui's

Gsd 7

Gsd vii

Gsd due to muscle phosphofructokinase deficiency

Gsd type 7

Gsd type vii

Gsd7

Gsdvii

Glycogen storage disease vii

Glycogen storage disease type 7

Glycogen storage disease type vii

Glycogen storage disease, type 7

Glycogen storage disease, type vii

Glycogenosis 7

Glycogenosis due to muscle phosphofructokinase deficiency

Glycogenosis type 7

Glycogenosis type vii

Muscle phosphofructokinase deficiency

Muscle phosphofructokinase deficiencies

Pfkm deficiency

Pfkm glycogen storage disease

Pfkm deficiencies

Phosphofructokinase deficiencies, muscle

Phosphofructokinase deficiency, muscle

Tarui disease

Tarui's disease

Taruis disease

Glycogen storage disease 7

Glycogen storage disease vii; gsd7

Glycogen storage disease caused by mutation in pfkm

Glycogen storage disease due to muscle phosphofructokinase deficiency

Phosphofructokinase deficiency

Phosphofructokinase myopathy

Associated Genes (1)
 

NCBI-RefSeq:  PFKM   (Phosphofructokinase, muscle)

External Links:  gnomAD browser   Ensembl   GeneCards

 


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