ORPHA:171690
Metabolic myopathy due to lactate transporter defect
Synonyms: Erythrocyte lactate transporter defect
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Status
- active
Metabolic myopathy due to lactate transporter defect is a rare metabolic myopathy characterized by muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria, and elevation of serum creatine kinase.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Metabolic myopathy due to lactate transporter defect | Erythrocyte lactate transporter defect |
| fr | Myopathie métabolique par défaut de transport du lactate | Anomalie du transporteur de lactate de l'érythrocyte |
| de | Myopathie, metabolische, durch Laktat-Transporter-Defekt | Laktat-Transporter-Defekt der Erythrozyten |
| es | Miopatía metabólica por defecto del trasportador de lactato | Defecto en el trasportador del lactacto eritrocitario |
| it | Miopatia metabolica da difetto del trasportatore del lattato | Difetto del trasportatore del lattato negli eritrociti |
| nl | Metabole myopathie door lactaattransporterdefect | Erytrocyt-lactaattransporterdefect |
| pt | Miopatia metabólica por deficiência do transportador de lactato | |
| pl | Miopatia metaboliczna z powodu defektu transportera kwasu mlekowego | Defekt transportera kwasu mlekowego erytrocytów |
| cs | Metabolická myopatie způsobená poruchou přenašeče laktátu | Porucha přenašeče laktátu v erytrocytu |
| uk | Метаболічна міопатія внаслідок дефекту транспортера лактату | Дефект лактатного транспортера еритроцитів |
| zh | 乳酸转运体缺陷所致代谢性肌病 | 红细胞乳酸转运蛋白缺陷 |
| tr | Laktat taşıyıcı defektine bağlı metabolik miyopati | Eritrosit laktat taşıyıcı defekti |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 245340 | E | validated | |
| ICD-10 | G72.8 | NTBT | attributed | validated |
| MONDO | 0009501 | E | validated | |
| MeSH | C565449 | E | validated | |
| UMLS | C1855577 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:98486Metabolic myopathy
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC16A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:10922 | ENSG00000155380 | 600682 | 1p13.2 | solute carrier family 16 member 1 | 10590411[PMID] |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/171690
- This record as JSON: /data/d/171690.json