ORPHA:254871
Mitochondrial DNA depletion syndrome, hepatocerebral form
Synonyms: Deoxyguanosine kinase deficiency · mtDNA depletion syndrome, hepatocerebral form
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- 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.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mitochondrial DNA depletion syndrome, hepatocerebral form | Deoxyguanosine kinase deficiency · mtDNA depletion syndrome, hepatocerebral form |
| fr | Déplétion de l'ADN mitochondrial, forme hépatocérébrale | Déficit en deoxyguanosine kinase · Déplétion de l'ADNmt, forme hépatocérébrale |
| de | Mitochondriales DNA-Depletionssyndrom, hepatozerebrale Form | Deoxyguanosin-Kinase-Mangel · mtDNA-Depletionssyndrom, hepatozerebrales |
| es | Síndrome de depleción del ADN mitocondrial, forma hepatocerebral | Deficiencia en desoxiguanosina quinasa · Síndrome de depleción del ADNmt, forma hepatocerebral |
| it | Sindrome da deplezione del DNA mitocondriale, forma epatocerebrale | Sindrome da deplezione del mtDNA, forma epatocerebrale |
| nl | Mitochondriaal DNA-depletiesyndroom, hepatocerebrale vorm | Deoxyguanosinekinasedeficiëntie · mtDNA-depletiesyndroom, hepatocerebrale vorm |
| pt | Síndrome de depleção do ADN mitocondrial, forma hepatocerebral | Síndrome de depleção do ADNmt, forma hepatocerebral |
| pl | Zespół deplecji mitochondrialnego DNA, postać wątrobowo-mózgowa | Zespół deplecji mtDNA, postać wątrobowo-mózgowa |
| cs | Syndrom deplece mitochondriální DNA, hepatocerebrální forma | Syndrom deplece mtDNA, hepatocerebrální forma |
| uk | Синдром виснаження мітохондріальної ДНК, гепатоцеребральна форма | Дефіцит дезоксигуанозинкінази · Синдром виснаження мтДНК, гепатоцеребральна форма |
| zh | 肝脑型线粒体DNA缺失综合征 | 线粒体DNA缺失综合征肝脑型 |
| tr | Mitokondriyal DNA tükenme sendromu, hepatoserebral form | Deoksiguanozin kinaz eksikliği · mtDNA tükenme sendromu, hepatoserebral form |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0100512 | E | validated | |
| MeSH | C580039 | E | validated | |
| UMLS | C3711385 | E | validated |
E 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 (2):
- ORPHA:35698Mitochondrial DNA depletion syndrome
rare inborn errors of metabolism; rare genetic diseases - ORPHA:101940Rare metabolic liver disease
rare genetic diseases; rare hepatic diseases
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.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/254871
- This record as JSON: /data/d/254871.json