Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
- Type
- Disease
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- active
A rare mitochondrial disease characterized by prenatal complications including oligohydramnios, fetal growth restriction, hydrops, and anemia, followed by severe lactic acidosis, hyaline membrane disease, pulmonary hypertension, cardiac anomalies, liver dysfunction, urogenital abnormalities and progressive renal disease, seizures, thrombocytopenia, and sideroblastic anemia resulting in multisystem organ failure and death shortly after birth. Less severely affected patients surviving the neonatal period and showing sensorineural hearing loss and developmental delay have been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome | |
| fr | Syndrome d'anasarque-acidose lactique-anémie sidéroblastique-défaillance multisystémique | |
| de | Hydrops-Laktatazidose-sideroblastische Anämie-Multisystemversagen-Syndrom | |
| es | Síndrome de hidropesía-acidosis láctica-anemia sideroblástica-fallo multisistémico | |
| it | Sindrome idrope - acidosi lattica - anemia sideroblastica - insufficienza multisistemica | |
| nl | Hydrops - lactaatacidose - sideroblastische anemie - multisysteemfalen-syndroom | |
| pt | Síndrome de hidrópsia-acidose láctica-anemia sideroblástica-falência multissistémica | |
| pl | Zespół obrzęku-kwasicy mleczanowej-anemii syderoblastycznej-niewydolności wielonarządowej | |
| cs | Syndrom zahrnující hydrops, laktátovou acidózu, sideroblastickou anémii a multisystémové selhání | |
| uk | Синдром водянки-молочнокислого ацидозу-сидеробластної анемії-полісистемної недостатності | |
| zh | 水肿-乳酸酸中毒-铁粒幼细胞性贫血-多系统衰竭综合征 | |
| tr | Hidrops-laktik asidoz-sideroblastik anemi-multisistemik yetmezlik sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617021 | E | validated | |
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 5C53.2Y | NTBT | attributed | validated |
| MONDO | 0014869 | E | validated | |
| UMLS | C4310761 | 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 (1):
- ORPHA:35696Mitochondrial disorder due to a defect in mitochondrial protein synthesis
rare inborn errors of metabolism; rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LARS2 | Candidate gene tested in | Not yet assessed | HGNC:17095 | ENSG00000011376 | 604544 | 3p21.31 | leucyl-tRNA synthetase 2, mitochondrial | 26537577[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 cases | Worldwide | Case(s) | Validated | 26537577[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26537577[PMID] |
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/528091
- This record as JSON: /data/d/528091.json