ORPHA:279934
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
A rare immune disease characterized by severely reduced mitochondrial DNA content due to DGUOK deficiency typically manifesting with early-onset liver dysfunction, psychomotor delay, hypotonia, rotary nystagmus that develops into opsoclonus, lactic acidosis and hypoglycemia.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency | |
| fr | Déplétion de l'ADN mitochondrial, forme hépatocérébrale par déficit en DGUOK | |
| de | Mitochondriales DNA-Depletions-Syndrom, hepatozerebrale Form durch DGUOK-Mangel | |
| es | Síndrome de depleción del ADN mitocondrial, forma hepatocerebral por deficiencia de DGUOK | |
| it | Sindrome da deplezione del DNA mitocondriale, forma epatocerebrale da deficit di DGUOK | |
| nl | Mitochondriaal DNA-depletiesyndroom, hepatocerebrale vorm door DGUOK-deficiëntie | |
| pt | Síndrome de depleção de ADN mitocondrial, forma hepatocerebral por deficiência de DGUOK | |
| pl | Zespół deplecji mitochondrialnego DNA, postać wątrobowo-mózgowa z powodu niedoboru DGUOK | |
| cs | Syndrom mitochondriální DNA deplece, hepatocerebrální forma způsobená deficitem DGUOK | |
| uk | Синдром виснаження мітохондріальної ДНК, гепатоцеребральна форма внаслідок дефіциту DGUOK | |
| zh | DGUOK基因缺陷所致线粒体DNA缺失综合征，肝脑型 | |
| tr | Mitokondriyal DNA tükenme sendromu, DGUOK eksikliğine bağlı hepatoserebral form |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 251880 | E | validated | |
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 5C53.20 | NTBT | attributed | validated |
| MONDO | 0009636 | E | validated | |
| UMLS | C5191055 | E | validated | |
| GARD | 13644 | 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 (3):
- ORPHA:79191Disorder of purine metabolism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:254871Mitochondrial DNA depletion syndrome, hepatocerebral form
rare inborn errors of metabolism; rare genetic diseases; rare hepatic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DGUOK | Disease-causing germline mutation(s) in | Assessed | HGNC:2858 | ENSG00000114956 | 601465 | 2p13.1 | deoxyguanosine kinase | 20301766[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_[EXPERT] |
| Cases/families | 100 cases | Worldwide | Case(s) | Validated | 29137425[PMID]_[EXPERT] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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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/279934
- This record as JSON: /data/d/279934.json