Mitochondrial DNA depletion syndrome, encephalomyopathic form
Synonyms: mtDNA depletion syndrome, encephalomyopathic form
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterized by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophtalmoplegia, sensosineural hearing loss, generalized seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mitochondrial DNA depletion syndrome, encephalomyopathic form | mtDNA depletion syndrome, encephalomyopathic form |
| fr | Syndrome de déplétion de l'ADN mitochondrial forme encéphalomyopathique | Syndrome de déplétion de l'ADNmt forme encéphalomyopathique |
| de | Mitochondriales DNA-Depletionssyndrom, enzephalomyopathische Form | mtDNA-Depletionssyndrom, enzephalomyopathische Form |
| es | Síndrome de depleción del ADN mitocondrial, forma encefalomiopática | Síndrome de depleción del ADNmt, forma encefalomiopática |
| it | Sindrome da deplezione del DNA mitocondriale, forma encefalomiopatica | Sindrome da deplezione del mtDNA, forma encefalomiopatica |
| nl | Mitochondriaal DNA-depletiesyndroom, encefalomyopathische vorm | mtDNA-depletiesyndroom, encefalomyopathische vorm |
| pt | Síndrome de depleção do ADN mitocondrial, forma encefalomiopática | Síndrome de depleção do ADNmt, forma encefalomiopática |
| pl | Zespół deplecji mitochondrialnego DNA, postać encefalomiopatyczna | Zespół deplecji mtDNA, postać encefalomiopatyczna |
| cs | Syndrom deplece mitochondriální DNA, encefalomyopatická forma | Syndrom deplece mtDNA, encefalomyopatická forma |
| uk | Синдром виснаження мітохондріальної ДНК, енцефаломіопатична форма | Синдром виснаження мтДНК, енцефаломіопатична форма |
| zh | 脑肌病型线粒体DNA缺失综合征 | 线粒体DNA缺失综合征脑肌病型 |
| tr | Mitokondriyal DNA tükenme sendromu, ensefalomiyopatik form | mtDNA tükenme sendromu, ensefalomiyopatik form |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612073 | BTNT | validated | |
| OMIM | 612075 | BTNT | validated | |
| MONDO | 0016796 | E | validated | |
| MONDO | 16796 | E | validated | |
| UMLS | C4707428 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:35698Mitochondrial DNA depletion syndrome
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
Children (4):
- ORPHA:17Fatal infantile lactic acidosis with methylmalonic aciduria
- ORPHA:1933Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
- ORPHA:255235Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
- ORPHA:369897Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/254803
- This record as JSON: /data/d/254803.json