Hydrops, lactic acidosis, and sideroblastic anemia

Preferred Label : Hydrops, lactic acidosis, and sideroblastic anemia;

Symbol : HLASA;

CISMeF acronym : HLASA;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the leucyl-tRNA synthetase-2 gene (LARS2, 604544.0001);

Laboratory abnormalities : Decreased mitochondrial respiratory complex I in liver and muscle;

Prefixed ID : #617021;

Details

Origin ID

617021;

UMLS CUI

C4310761;

Currated CISMeF NLP mapping
- Hydrops, lactic acidosis, sideroblastic anemia, multisystemic failure syndrome (disorder) [SNOMED CT concept]
- Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome [ORDO Disease]
Genes related to phenotype
- Leucyl-trna synthetase 2 [OMIM gene]
HPO term(s)
- Arrhythmia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Congenital onset [HPO term]
- Decreased liver function [HPO term]
- EEG abnormality [HPO term]
- Hypertension [HPO term]
- Intrauterine growth retardation [HPO term]
- Lactic acidosis [HPO term]
- Oligohydramnios [HPO term]
- Patent ductus arteriosus [HPO term]
- Respiratory insufficiency [HPO term]
- Seizure [HPO term]
- Sideroblastic anemia [HPO term]
- Thrombocytopenia [HPO term]
- Ventricular septal defect [HPO term]
ORDO concept(s)
- Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hydrops, lactic acidosis, sideroblastic anemia, multisystemic failure syndrome (disorder) [SNOMED CT concept]

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