Phosphoglycerate Kinase 1 Deficiency malady
Categories: Genetic diseases, Neuronal diseases, Metabolic diseases, Blood diseases, Rare diseases
Aliases & Descriptions for Phosphoglycerate Kinase 1 Deficiency:
Orphanet epidemiological data:53
glycogen storage disease due to phosphoglycerate kinase 1 deficiency:
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages
Global: Genetic diseases, Metabolic diseases, Rare diseases
Anatomical: Neuronal diseases, Blood diseases
OMIM:51 Phosphoglycerate kinase-1 deficiency is an X-linked recessive condition with a highly variable clinical phenotype that... (300653) more...
MalaCards based summary: Phosphoglycerate Kinase 1 Deficiency, also known as glycogen storage disease due to phosphoglycerate kinase 1 deficiency, is related to phosphoglycerate kinase deficiency and prostate cancer, and has symptoms including hemolytic anemia, global developmental delay and myopathy. An important gene associated with Phosphoglycerate Kinase 1 Deficiency is PGK1 (Phosphoglycerate Kinase 1).
UniProtKB/Swiss-Prot:69 Phosphoglycerate kinase 1 deficiency: A condition with a highly variable clinical phenotype that includes hemolytic anemia, rhabdomyolysis, myopathy and neurologic involvement. Patients can express one or more of these manifestations.
Diseases related to Phosphoglycerate Kinase 1 Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of diseases related to Phosphoglycerate Kinase 1 Deficiency:
Human phenotypes related to Phosphoglycerate Kinase 1 Deficiency:63 (show all 17)
UMLS symptoms related to Phosphoglycerate Kinase 1 Deficiency:ataxia, seizures
Drugs for Phosphoglycerate Kinase 1 Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
Search NIH Clinical Center for Phosphoglycerate Kinase 1 Deficiency
Articles related to Phosphoglycerate Kinase 1 Deficiency:
Search GEO for disease gene expression data for Phosphoglycerate Kinase 1 Deficiency.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet