ORPHA:217371
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
Synonyms: Acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteins
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare mitochondrial respiratory chain deficiency due to TRMU deficiency leading to mitochondrial tRNA synthesis defect and characterized clinically by transient, but life-threatening acute liver failure episodes.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | Acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteins |
| fr | Insuffisance hépatique infantile aiguë par défaut de synthèse des protéines codées par l'ADNmt | Insuffisance hépatique infantile aiguë par défaut de synthèse des protéines codées par l'ADN mitochondrial |
| de | Akutes infantiles Leberversagen durch Synthesedefekt mtDNA-kodierter Proteine | Leberversagen, infantiles, transientes · Transientes Leberversagen im Kindesalter durch TRMU-Defizienz · Transientes infantiles Leberversagen-Syndrom |
| es | Insuficiencia hepática infantil aguda por un defecto de síntesis de las proteínas codificadas por el ADNmt | Fallo hepático infantil agudo por un defecto de síntesis de las proteínas codificadas por el ADN mitocondrial · Fallo hepático infantil agudo por un defecto de síntesis de las proteínas codificadas por el ADNm · Insuficiencia hepática infantil aguda por un defecto de síntesis de las proteínas codificadas por el ADN mitocondrial |
| it | Insufficienza epatica infantile acuta da difetto della sintesi delle proteine codificate da mtDNA | Insufficienza epatica infantile acuta da difetto della sintesi delle proteine codificate dal DNA mitocondriale |
| nl | Acuut infantiel leverfalen door synthesedefect van mtDNA-gecodeerde proteïnen | Acuut infantiel leverfalen door synthesedefect van mitochondriaal DNA-gecodeerde proteïnen · Infantiel leverfalen, transient |
| pt | Insuficiência hepática aguda da infância por defeito na síntese de proteínas codificadas pelo ADNmt | Insuficiência hepática aguda da infância por defeito das proteínas codificadas por ADN mitocondrial |
| pl | Ostra dziecięca niewydolność wątroby z powodu defektu syntezy białek kodowanych przez mtDNA | Ostra dziecięca niewydolność wątroby z powodu defektu syntezy białek kodowanych przez mitochondrialne DNA |
| cs | Akutní infantilní selhání jater v důsledku defektu syntézy mtDNA kódovaných proteinů | Akutní infantilní selhání jater v důsledku defektu syntézy mitochondriálních DNA kódovaných proteinů |
| uk | Гостра дитяча печінкова недостатність внаслідок дефекту синтезу білків, що кодуються мтДНК | Гостра дитяча печінкова недостатність внаслідок дефекту синтезу мітохондріальних ДНК-кодованих білків |
| zh | mtDNA编码蛋白合成缺陷所致急性婴儿肝功能衰竭 | 线粒体DNA编码蛋白合成缺陷所致急性婴儿肝功能衰竭 |
| tr | MtDNA ile kodlanmış proteinlerin sentez defektine bağlı akut infantil karaciğer yetmezliği | Mitokondriyal DNA ile kodlanmış proteinlerin sentez defektine bağlı akut infantil karaciğer yetmezliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613070 | E | validated | |
| ICD-10 | K72.0 | NTBT | attributed | validated |
| ICD-11 | 5C53.23 | NTBT | index | validated |
| MONDO | 13111 | E | validated | |
| UMLS | C4304057 | E | validated | |
| GARD | 10593 | 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 (4):
- ORPHA:156604Genetic parenchymatous liver disease
rare genetic diseases - ORPHA:35696Mitochondrial disorder due to a defect in mitochondrial protein synthesis
rare inborn errors of metabolism; rare genetic diseases - ORPHA:101940Rare metabolic liver disease
rare genetic diseases; rare hepatic diseases - ORPHA:101939Rare parenchymal liver disease
rare hepatic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TRMU | Disease-causing germline mutation(s) in | Assessed | HGNC:25481 | ENSG00000100416 | 610230 | 22q13.31 | tRNA mitochondrial 2-thiouridylase | 19732863[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 32 cases | Worldwide | Case(s) | Validated | 33365252[PMID]_ 33485800[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.
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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/217371
- This record as JSON: /data/d/217371.json