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Metabolic myopathy due to lactate transporter defect
1 OMIM reference -
1 associated gene
5 connected diseases
No signs/symptoms info
Disease Type of connection
Exercise-induced hyperinsulinism
MEDNIK syndrome
Autosomal dominant hypohidrotic ectodermal dysplasia
Glycogen storage disease due to liver phosphorylase kinase deficiency
Pseudohypoaldosteronism type 2E
Synonym(s):
- Erythrocyte lactate transporter defect
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
(no data available)
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
SLC16A1 P53985600682
No signs/symptoms info available.