ORPHA:254902
Renal tubulopathy-encephalopathy-liver failure syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in GRACILE syndrome and that can be associated with encephalopathy and psychiatric disorders.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Renal tubulopathy-encephalopathy-liver failure syndrome | |
| fr | Syndrome de tubulopathie rénale-encéphalopathie-insuffisance hépathique | |
| de | Renale Tubulopathie-Enzephalopathie-Leberversagen-Syndrom | Syndrom der renalen Tubulopathie mit Enzephalopathie und Leberversagen |
| es | Síndrome de tubulopatía renal-encefalopatía-insuficiencia hepática | Síndrome de tubulopatía renal-encefalopatía-fallo hepático |
| it | Tubulopatia renale - encefalopatia - insufficienza epatica | |
| nl | Renale tubulopathie - encefalopathie - leverfalen-syndroom | |
| pt | Tubulopatia renal - encefalopatia - insuficiência hepática | |
| pl | Tubulopatia nerkowa - encefalopatia - niewydolność wątroby | |
| cs | Syndrom zahrnující renální tubulopatii, encefalopatii a selhání jater | |
| uk | Синдром ниркової тубулопатії-енцефалопатії-печінкової недостатності | |
| zh | 肾小管病变-脑病-肝衰竭综合征 | |
| tr | Renal tübülopati-ensefalopati-karaciğer yetmezliği sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 124000 | NTBT | validated | |
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 5C53.2Y | NTBT | index | validated |
| MONDO | 0016811 | E | validated | |
| UMLS | C4274075 | 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:309136Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:101940Rare metabolic liver disease
rare genetic diseases; rare hepatic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BCS1L | Disease-causing germline mutation(s) in | Assessed | HGNC:1020 | ENSG00000074582 | 603647 | 2q35 | BCS1 ubiquinol-cytochrome c reductase complex chaperone | 11528392[PMID] |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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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/254902
- This record as JSON: /data/d/254902.json