Erythrocyte lactate transporter defect

Preferred Label : Erythrocyte lactate transporter defect;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Lactate transporter defect, myopathy due to;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutations in the solute carrier family 16, monocarboxylic acid transporter, member 1 gene (SLC16A1, 600682.0001).;

Laboratory abnormalities : Increased serum creatine kinase; Decreased erythrocyte lactate clearance (transport), 40 to 50% of normal values;

Prefixed ID : #245340;

Details

Origin ID

245340;

UMLS CUI

C1855577;

Currated CISMeF NLP mapping
- Metabolic myopathy due to lactate transporter defect [ORDO Disease]
- Metabolic myopathy due to lactate transporter defect (disorder) [SNOMED CT concept]
- erythrocyte lactate transporter defect [MeSH concept]
- erythrocyte lactate transporter defect [MeSH Supplementary Concept]
Genes related to phenotype
- Solute carrier family 16 (monocarboxylic acid transporter), member 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Exercise-induced muscle cramps [HPO term]
- Exercise-induced muscle fatigue [HPO term]
- Exercise-induced muscle stiffness [HPO term]
Not associated HPO term(s)
- EMG abnormality [HPO term]
ORDO concept(s)
- Metabolic myopathy due to lactate transporter defect [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Metabolic myopathy due to lactate transporter defect [ORDO Disease]
- Metabolic myopathy due to lactate transporter defect (disorder) [SNOMED CT concept]
- erythrocyte lactate transporter defect [MeSH Supplementary Concept]
- erythrocyte lactate transporter defect [MeSH concept]

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