Phosphoglycerate kinase 1 deficiency

Preferred Label : Phosphoglycerate kinase 1 deficiency;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Pgk1 deficiency;

Description : Phosphoglycerate kinase-1 deficiency is an X-linked recessive condition with a highly variable clinical phenotype that includes hemolytic anemia, myopathy, and neurologic involvement. Patients can express 1, 2, or all 3 of these manifestations (Shirakawa et al., 2006).;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the phosphoglycerate kinase 1 gene (PGK1, 311800.0002).;

Laboratory abnormalities : Myoglobinuria after exertion; Decreased hemoglobin; Increased serum bilirubin; Increased reticulocyte count; Decreased activity of phosphoglycerate kinase 1;

Prefixed ID : #300653;

Details

Origin ID

300653;

UMLS CUI

C1970848;

Automatic exact mappings (from CISMeF team)
- Deficiency of phosphoglycerate kinase (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Glycogen storage disease due to phosphoglycerate kinase 1 deficiency [ICD-11 More detail]
- Glycogen storage disease due to phosphoglycerate kinase 1 deficiency [ORDO Disease]
- Phosphoglycerate Kinase 1 Deficiency [NCIt concept]
- phosphoglycerate kinase 1 deficiency [DO Concept]
- phosphoglycerate kinase 1 deficiency [MeSH concept]
- phosphoglycerate kinase 1 deficiency [MeSH Supplementary Concept]
DO Cross reference
- phosphoglycerate kinase 1 deficiency [DO Concept]
Genes related to phenotype
- Phosphoglycerate kinase 1 [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Decreased hemoglobin [HPO term]
- Delayed speech and language development [HPO term]
- Emotional lability [HPO term]
- Exercise intolerance [HPO term]
- Exercise-induced muscle cramps [HPO term]
- Exercise-induced myoglobinuria [HPO term]
- Global developmental delay [HPO term]
- Hemolytic anemia [HPO term]
- Intellectual disability [HPO term]
- Migraine [HPO term]
- Myopathy [HPO term]
- Renal insufficiency [HPO term]
- Reticulocytosis [HPO term]
- Retinal dystrophy [HPO term]
- Rhabdomyolysis [HPO term]
- Seizure [HPO term]
- Speech delay [HPO term]
- Variable age at onset [HPO term]
- Visual loss [HPO term]
- X-linked recessive inheritance [HPO term]
- poikilocytic hemolytic anemia [HPO term]
ORDO concept(s)
- Glycogen storage disease due to phosphoglycerate kinase 1 deficiency [ORDO Disease]
See also inter- (CISMeF)
- Glycogen storage disease due to phosphoglycerate kinase 1 deficiency (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Glycogen storage disease due to phosphoglycerate kinase 1 deficiency [ORDO Disease]
- Glycogen storage disease due to phosphoglycerate kinase 1 deficiency [ICD-11 More detail]
- Phosphoglycerate Kinase 1 Deficiency [NCIt concept]
- phosphoglycerate kinase 1 deficiency [MeSH Supplementary Concept]
- phosphoglycerate kinase 1 deficiency [MeSH concept]
- phosphoglycerate kinase 1 deficiency [DO Concept]

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