ORPHA:716917
Congenital myasthenic syndrome with mitochondrial defect
Synonyms: CMS with mitochondrial defect
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital myasthenic syndrome with mitochondrial defect | CMS with mitochondrial defect |
| fr | Syndrome myasthénique congénital par défaut mitochondrial | SMC par défaut mitochondrial |
| de | Kongenitales Myastheniesyndrom mit mitochondrialem Defekt | CMS mit Mitochondriendefekt |
| es | Síndrome miasténico congénito con defectos mitocondriales | SMC con defectos mitocondriales |
| it | Sindrome miastenica congenita con difetto mitocondriale | SMC con difetto mitocondriale · CMS con difetto mitocondriale |
| nl | Congenitaal myastheen syndroom met mitochondriaal defect | CMS met mitochondriaal defect |
| pt | Congenital myasthenic syndromes with mitochondrial defect | |
| pl | Wrodzone zespoły miasteniczne z defektem mitochondrialnym | = en |
| cs | Congenital myasthenic syndrome with mitochondrial defect | = en |
2
Cross-references
qualifier = Orphanet mapping relationE exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:716913Congenital myasthenic syndrome associated with ubiquitously expressed proteins
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare ophthalmic disorders
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC25A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:10979 | ENSG00000100075 | 190315 | 22q11.21 | solute carrier family 25 member 1 | |
| TEFM | Disease-causing germline mutation(s) in | Assessed | HGNC:26223 | ENSG00000172171 | 616422 | 17q11.2 | transcription elongation factor, mitochondrial | 37239850[PMID]_36823193[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
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/716917
- This record as JSON: /data/d/716917.json