Myopathy with lactic acidosis, hereditary

Preferred Label : Myopathy with lactic acidosis, hereditary;

Symbol : HML;

CISMeF acronym : HML;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Myopathy with deficiency of succinate dehydrogenase and aconitase; Myopathy with exercise intolerance, swedish type; Myoglobinuria due to abnormal glycolysis;

Description : Hereditary myopathy with lactic acidosis is an autosomal recessive muscular disorder characterized by childhood onset of exercise intolerance with muscle tenderness, cramping, dyspnea, and palpitations. Biochemical features include lactic acidosis and, rarely, rhabdomyolysis. It is a chronic disorder with remission and exacerbation of the muscle phenotype (summary by Sanaker et al., 2010).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the human homolog of the iron-sulfur cluster scaffold gene (ISCU, 611911.0001);

Laboratory abnormalities : Myoglobinuria; Disproportionate work-related increase in blood lactate and pyruvate; Low maximal oxygen uptake on exercise testing; Increased serum creatine kinase during episodes;

Prefixed ID : #255125;

Details

Origin ID

255125;

UMLS CUI

C1850718;

Automatic exact mappings (from CISMeF team)
- C-type lectin domain containing 10A [HGNC gene]
- CLEC10A wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Aconitase deficiency [ICD-11 More detail]
- Deficiency of aconitate hydratase (disorder) [SNOMED CT concept]
- Hereditary myopathy with lactic acidosis due to ISCU deficiency [ORDO Disease]
- Myopathy with deficiency of iron-sulfur cluster assembly enzyme (disorder) [SNOMED CT concept]
- myopathy with lactic acidosis, hereditary [MeSH concept]
- myopathy with lactic acidosis, hereditary [MeSH Supplementary Concept]
Genes related to phenotype
- Iron-sulfur cluster assembly enzyme [OMIM gene]
HPO term(s)
- Abnormal iron deposition in mitochondria [HPO term]
- Autosomal recessive inheritance [HPO term]
- Decreased activity of mitochondrial complex I [HPO term]
- Decreased activity of mitochondrial complex II [HPO term]
- Decreased activity of mitochondrial complex III [HPO term]
- Dyspnea [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Exercise intolerance [HPO term]
- Increased intramyocellular lipid droplets [HPO term]
- Increased serum lactate [HPO term]
- Juvenile onset [HPO term]
- Lactic acidosis [HPO term]
- Mitochondrial myopathy [HPO term]
- Muscle spasm [HPO term]
- Muscle weakness [HPO term]
- Myoglobinuria [HPO term]
- Myopathy [HPO term]
- Palpitations [HPO term]
- Rhabdomyolysis [HPO term]
- Sideroblastic anemia [HPO term]
- Subsarcolemmal accumulations of abnormally shaped mitochondria [HPO term]
ORDO concept(s)
- Hereditary myopathy with lactic acidosis due to ISCU deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hereditary myopathy with lactic acidosis due to ISCU deficiency [ORDO Disease]
- Myopathy with deficiency of iron-sulfur cluster assembly enzyme (disorder) [SNOMED CT concept]
- myopathy with lactic acidosis, hereditary [MeSH Supplementary Concept]
- myopathy with lactic acidosis, hereditary [MeSH concept]

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