ORPHA:254807
Multiple mitochondrial DNA deletion syndrome
Synonyms: Multiple mtDNA deletion syndrome
- Type
- Category
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Multiple mitochondrial DNA deletion syndrome | Multiple mtDNA deletion syndrome |
| fr | Syndrome de délétions multiples de l'ADN mitochondrial | Syndrome de délétions multiples de l'ADNmt |
| de | Mitochondrial DNA-Deletionssyndrom, multiples | mtDNA-Deletionssyndrom, multiples |
| es | Síndrome de deleción múltiple del ADN mitocondrial | Síndrome de deleción múltiple del ADNmt |
| it | Sindrome da delezioni multiple del DNA mitocondriale | |
| nl | Meervoudig mitochondriaal DNA-deletiesyndroom | Meervoudig mtDNA-deletiesyndroom |
| pt | Síndrome de deleções múltiplas do ADN mitocondrial | Síndrome de deleções múltiplas do ADNmt |
| pl | Zespół wielokrotnych delecji mitochondrialnego DNA | Zespół wielokrotnych delecji mtDNA |
| cs | Syndrom mnohočetné delece mitochondriální DNA | Syndrom mnohočetné delece mtDNA |
| uk | Синдром множинної мітохондріальної ДНК-делеції | Синдром множинної делеції мтДНК |
| zh | 多重线粒体DNA缺失综合征 | 多重线粒体DNA缺失综合征 |
| tr | Çoklu mitokondriyal DNA delesyon sendromu | Çoklu mtDNA delesyon sendromu |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | 5C53.21 | E | specific | validated |
| MONDO | 16797 | E | validated | |
| UMLS | C5679633 | 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:352456Mitochondrial DNA maintenance syndrome
rare inborn errors of metabolism; rare genetic diseases
Children (6):
- ORPHA:329314Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
- ORPHA:254818Ataxia neuropathy spectrum
- ORPHA:1215Autosomal dominant optic atrophy plus syndrome
- ORPHA:254892Autosomal dominant progressive external ophthalmoplegia
- ORPHA:254886Autosomal recessive progressive external ophthalmoplegia
- ORPHA:352470DNA2-related mitochondrial DNA deletion syndrome
4
Genes
0 directOrphanet records no gene directly on this code.
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/254807
- This record as JSON: /data/d/254807.json