Mitochondrial DNA depletion syndrome
Synonyms: mtDNA depletion syndrome
- Type
- Category
- Group
- Group of disorders
- Age of onset
- All ages
- Status
- active
A clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mitochondrial DNA copy number in affected tissues without mutations or rearrangements in the mitochondrial DNA. It is phenotypically heterogeneous, and can affect a specific organ or a combination of organs, with the main presentations described being either hepatocerebral (i.e. hepatic dysfunction, psychomotor delay), myopathic (i.e. hypotonia, muscle weakness, bulbar weakness), encephalomyopathic (i.e. hypotonia, muscle weakness, psychomotor delay) or neurogastrointestinal (i.e gastrointestinal dysmotility, peripheral neuropathy). Additional phenotypes include fatal infantile lactic acidosis with methylmalonic aciduria, spastic ataxia (early-onset spastic ataxia-neuropathy syndrome), and Alpers syndrome.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mitochondrial DNA depletion syndrome | mtDNA depletion syndrome |
| fr | Syndrome de déplétion de l'ADN mitochondrial | Déplétion de l'ADNmt |
| de | Mitochondriales DNA-Depletionssyndrom | |
| es | Síndrome de depleción del ADN mitocondrial | Síndrome de depleción del ADNmt |
| it | Sindrome da deplezione del DNA mitocondriale | Sindrome da deplezioni del mtDNA |
| nl | Mitochondriaal DNA-depletiesyndroom | mtDNA-depletiesyndroom |
| pt | Síndrome de depleção de ADN mitocondrial | Síndrome de depleção de ADNmt |
| pl | Zespół deplecji mitochondrialnego DNA | Zespół deplecji mtDNA |
| cs | Mitochondriální DNA depleční syndrom | mtDNA depleční syndrom |
| uk | Синдром виснаження мітохондріальної ДНК | Синдром виснаження мтДНК |
| zh | 线粒体DNA缺失综合征 | 线粒体DNA缺失综合征 |
| tr | Mitokondriyal DNA deplesyon sendromu | mtDNA tükenme sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | 5C53.20 | E | specific | validated |
| MONDO | 0018158 | E | validated | |
| MONDO | 18158 | E | validated | |
| UMLS | C0342782 | E | validated | |
| GARD | 13643 | E | validated | |
| MedDRA | 10059396 | 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:104013Metabolic disease with intestinal involvement
rare genetic diseases - ORPHA:352456Mitochondrial DNA maintenance syndrome
rare inborn errors of metabolism; rare genetic diseases
Children (4):
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
| Prevalence at birth | 1-9 / 1 000 000 | 0.5 / 100 000 | Israel | Value and class | Validated | 33239050[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1.1 / 100 000 | Specific population | Value and class | Validated | 33239050[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/35698
- This record as JSON: /data/d/35698.json