Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
Synonyms: mtDNA depletion syndrome, hepatocerebrorenal form
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, mitochondrial DNA depletion syndrome characterized by neonatal or early-infantile onset hepatopathy (manifesting with hepatomegaly, cholestasis, increased transaminases, coagulopathy, hypoalbuminemia, ascites, and/or liver failure), associated with renal tubulopathy and progressive neurodegenerative manifestations, which include muscular atrophy, hyporeflexia, ataxia, sensory neuropathy, epilepsy, sensorineural hearing impairment, psychomotor regression, athetosis, nystagmus, and/or ophthalmoplegia. Patients typically present with recurrent vomiting, severe failure to thrive, feeding difficulties, and fasting hypoglycemia.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mitochondrial DNA depletion syndrome, hepatocerebrorenal form | mtDNA depletion syndrome, hepatocerebrorenal form |
| fr | Déplétion de l'ADN mitochondrial, forme hépato-cérébro-rénale | Déplétion de l'ADNmt, forme hépato-cérébro-rénale |
| de | Mitochondriales DNA-Depletionssyndrom, hepato-zerebro-renale Form | mtDNA-Depletionssyndrom, hepatozerebrorenales |
| es | Síndrome de depleción del ADN mitocondrial, forma hepato-cerebro-renal | Síndrome de depleción del ADNmt, forma hepato-cerebro-renal |
| it | Sindrome da deplezione del DNA mitocondriale, forma epato-cerebro-renale | Sindrome da deplezione del mtDNA, forma epato-cerebro-renale |
| nl | Mitochondriaal DNA-depletiesyndroom, hepatocerebrorenale vorm | mtDNA-depletiesyndroom, hepatocerebrorenale vorm |
| pt | Síndrome de depleção do ADN mitocondrial, forma hepatocerebrorenal | Síndrome de depleção do ADNmt, forma hepatocerebrorenal |
| pl | Zespół deplecji mitochondrialnego DNA, postać wątrobowo-mózgowo-nerkowa | Zespół deplecji mtDNA, postać wątrobowo-mózgowo-nerkowa |
| cs | Syndrom deplece mitochondriální DNA, hepatocerebrorenální forma | Syndrom deplece mtDNA, hepatocerebrorenální forma |
| uk | Синдром виснаження мітохондріальної ДНК, гепатоцереброренальна форма | Синдром виснаження мтДНК, гепатоцереброренальна форма |
| zh | 线粒体DNA缺失综合征，肝脑肾型 | mtDNA缺失综合征肝脑肾型 |
| tr | Mitokondriyal DNA deplesyon sendromu, hepatoserebrorenal formu | mtDNA tükenme sendromu, hepatoserebrorenal formu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 271245 | E | validated | |
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 5C53.20 | NTBT | index | validated |
| MONDO | 0018197 | E | validated | |
| UMLS | C5190602 | 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 (5):
- ORPHA:183592Genetic renal tubular disease
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 - ORPHA:506213Rare disorder potentially indicated for kidney transplant
rare transplant-related disorders - ORPHA:93603Rare renal tubular disease
rare renal diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TWNK | Disease-causing germline mutation(s) in | Assessed | HGNC:1160 | ENSG00000107815 | 606075 | 10q24.31 | twinkle mtDNA helicase | 23375728[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 23375728[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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/363534
- This record as JSON: /data/d/363534.json