Myopathy, lactic acidosis, and sideroblastic anemia 1

Preferred Label : Myopathy, lactic acidosis, and sideroblastic anemia 1;

Symbol : MLASA1;

CISMeF acronym : MLASA1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mitochondrial myopathy and sideroblastic anemia;

Description : Myopathy, lactic acidosis, and sideroblastic anemia (MLASA) is a rare autosomal recessive oxidative phosphorylation disorder specific to skeletal muscle and bone marrow (Bykhovskaya et al., 2004). - Genetic Heterogeneity of MLASA;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the pseudouridine synthase-1 gene (PUS1, 608109.0001);

Laboratory abnormalities : Increased serum lactate; Increased serum ferritin;

Prefixed ID : #600462;

Details

Origin ID

600462;

UMLS CUI

C4551958;

Currated CISMeF NLP mapping
- Mitochondrial myopathy and sideroblastic anemia [ORDO Disease]
- Mitochondrial myopathy with sideroblastic anaemia [ICD-11 More detail]
- Mitochondrial myopathy with sideroblastic anaemia, type 1 [ICD-11 More detail]
- Mitochondrial myopathy with sideroblastic anemia syndrome (disorder) [SNOMED CT concept]
- Myopathy with lactic acidosis and sideroblastic anemia [MeSH concept]
- myopathy lactic acidosis and sideroblastic anemia 1 [Disease (Nov.)]
- myopathy with lactic acidosis and sideroblastic anemia [MeSH Supplementary Concept]
- myopathy, lactic acidosis, and sideroblastic anemia [DO Concept]
- myopathy, lactic acidosis, and sideroblastic anemia 1 [DO Concept]
DO Cross reference
- myopathy, lactic acidosis, and sideroblastic anemia 1 [DO Concept]
Genes related to phenotype
- Pseudouridine synthase 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cytochrome C oxidase-negative muscle fibers [HPO term]
- Delayed puberty [HPO term]
- Distichiasis [HPO term]
- Erythroid hyperplasia [HPO term]
- Exercise intolerance [HPO term]
- Failure to thrive [HPO term]
- Generalized limb muscle atrophy [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hypochromic anemia [HPO term]
- Increased circulating ferritin concentration [HPO term]
- Increased serum lactate [HPO term]
- Intellectual disability [HPO term]
- Lactic acidosis [HPO term]
- Microcephaly [HPO term]
- Microcytic anemia [HPO term]
- Micrognathia [HPO term]
- Pallor [HPO term]
- Pappenheimer bodies [HPO term]
- Progressive muscle weakness [HPO term]
- Sideroblastic anemia [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)
- Mitochondrial myopathy and sideroblastic anemia [ORDO Disease]
- Myopathy with lactic acidosis and sideroblastic anemia [MeSH concept]
- myopathy lactic acidosis and sideroblastic anemia 1 [Disease (Nov.)]
- myopathy with lactic acidosis and sideroblastic anemia [MeSH Supplementary Concept]
- myopathy, lactic acidosis, and sideroblastic anemia [DO Concept]

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