Myopathy, lactic acidosis, and sideroblastic anemia 2

Preferred Label : Myopathy, lactic acidosis, and sideroblastic anemia 2;

Symbol : MLASA2;

CISMeF acronym : MLASA2;

Type : Phenotype, molecular basis known;

Description : Myopathy, lactic acidosis, and sideroblastic anemia-2 is an autosomal recessive disorder of the mitochondrial respiratory chain. The disorder shows marked phenotypic variability: some patients have a severe multisystem disorder from infancy, including cardiomyopathy and respiratory insufficiency resulting in early death, whereas others present in the second or third decade of life with sideroblastic anemia and mild muscle weakness (summary by Riley et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of MLASA, see MLASA1 (600462).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the tyrosyl-tRNA synthetase 2 gene (YARS2, 610957.0001);

Laboratory abnormalities : Increased serum lactate; Abnormal liver enzymes (in some patients);

Prefixed ID : #613561;

Details

Origin ID

613561;

UMLS CUI

C3150802;

Currated CISMeF NLP mapping
- Mitochondrial myopathy with sideroblastic anaemia, type 2 [ICD-11 More detail]
- myopathy lactic acidosis and sideroblastic anemia 2 [Disease (Nov.)]
- myopathy, lactic acidosis, and sideroblastic anemia 2 [DO Concept]
DO Cross reference
- myopathy, lactic acidosis, and sideroblastic anemia 2 [DO Concept]
Genes related to phenotype
- Tyrosyl-trna synthetase 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Dysphagia [HPO term]
- Elevated hepatic transaminase [HPO term]
- Exercise intolerance [HPO term]
- Failure to thrive [HPO term]
- Generalized amyotrophy [HPO term]
- Growth delay [HPO term]
- Hepatomegaly [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
- Increased serum lactate [HPO term]
- Lactic acidosis [HPO term]
- Nystagmus [HPO term]
- Progressive [HPO term]
- Progressive muscle weakness [HPO term]
- Ptosis [HPO term]
- Respiratory insufficiency due to muscle weakness [HPO term]
- Sideroblastic anemia [HPO term]
- Strabismus [HPO term]
ORDO concept(s)
- Mitochondrial myopathy and sideroblastic anemia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- myopathy lactic acidosis and sideroblastic anemia 2 [Disease (Nov.)]

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