Mitochondrial myopathy, episodic, with or without optic atrophy and reversible leukoencephalopathy

Preferred Label : Mitochondrial myopathy, episodic, with or without optic atrophy and reversible leukoencephalopathy;

Symbol : MEOAL;

CISMeF acronym : MEOAL;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Multiple mitochondrial dysfunctions syndrome 8; MMDS8;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ferredoxin 2 gene (FDX2, 614585.0001);

Laboratory abnormalities : Increased serum creatine kinase (in some patients); Increased serum lactate (in some patients);

Prefixed ID : #251900;

Details

Origin ID

251900;

UMLS CUI

C5193007;

Currated CISMeF NLP mapping
- Mitochondrial Myopathy [NCIt concept]
- Mitochondrial cytopathy (disorder) [SNOMED CT concept]
- Mitochondrial myopathies [ICD-11 Category]
- Mitochondrial myopathy [PASCAL descriptor]
- Mitochondrial myopathy [HPO term]
- Mitochondrial myopathy [MedDRA Preferred Term]
- Mitochondrial myopathy [ORDO Disease]
- Mitochondrial myopathy (disorder) [SNOMED CT concept]
- mitochondrial myopathies [MeSH Descriptor]
- mitochondrial myopathies [MeSH concept]
- mitochondrial myopathy [DO Concept]
- mitochondrial myopathy [Disease (Nov.)]
- mitochondrial myopathy [SNOMED Notion]
DO Cross reference
- mitochondrial myopathy [DO Concept]
Genes related to phenotype
- Ferredoxin 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Difficulty walking [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Generalized hypotonia [HPO term]
- Hepatomegaly [HPO term]
- Hyperreflexia [HPO term]
- Hyporeflexia [HPO term]
- Hypothyroidism [HPO term]
- Hypotonia [HPO term]
- Increased serum lactate [HPO term]
- Macroglossia [HPO term]
- Microcytic anemia [HPO term]
- Mitochondrial inheritance [HPO term]
- Mitochondrial myopathy [HPO term]
- Motor delay [HPO term]
- Muscle spasm [HPO term]
- Muscle weakness [HPO term]
- Myalgia [HPO term]
- Neutropenia [HPO term]
- Nystagmus [HPO term]
- Optic atrophy [HPO term]
- Pes cavus [HPO term]
- Ptosis [HPO term]
- Rhabdomyolysis [HPO term]
- Sensorimotor neuropathy [HPO term]
- Spasticity [HPO term]
- Visual impairment [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mitochondrial Myopathy [NCIt concept]
- Mitochondrial myopathy [MedDRA Preferred Term]
- Mitochondrial myopathy [ORDO Disease]
- Mitochondrial myopathy [HPO term]
- Mitochondrial myopathy (disorder) [SNOMED CT concept]
- Mitochondrial myopathy, not elsewhere classified [ICD-10 Sub-category (who)]
- mitochondrial myopathies [MeSH Descriptor]
- mitochondrial myopathies [MeSH concept]
- mitochondrial myopathy [SNOMED Notion]
- mitochondrial myopathy [DO Concept]
- mitochondrial myopathy [Disease (Nov.)]
Validated automatic mappings to NTBT
- disorder of mitochondrial functions [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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