Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes

Preferred Label : Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes;

Symbol : MELAS;

CISMeF acronym : MELAS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Melas syndrome;

Inheritance : Mitochondrial;

Molecular basis : Caused by mutation in the mitochondrial transfer RNA serine 2 gene (MTTS2, 590085.0002); Caused by mutation in the mitochondrial transfer RNA glutamine gene (MTTQ, 590030.0003); Caused by mutation in the mitochondrial complex I, subunit ND6 gene (MTND6, 516006.0005); Caused by mutation in the mitochondrial complex I, subunit ND5 gene (MTND5, 516005.0004); Caused by mutation in the mitochondrial transfer RNA leucine 1 gene (MTTL1, 590050.0001); Caused by mutation in the mitochondrial transfer RNA cysteine gene (MTTC, 590020.0001); Caused by mutation in the mitochondrial transfer RNA histidine gene (MTTH, 590040.0003); Caused by mutation in the mitochondrial complex I, subunit ND1 gene (MTND1, 516000.0012); Caused by mutation in the mitochondrial transfer RNA lysine gene (MTTK, 590060.0002); Caused by mutation in the mitochondrial transfer RNA serine 1 gene (MTTS1, 590080.0001);

Laboratory abnormalities : Elevated resting serum lactate, increased with exercise; Subsarcolemmal pleomorphic mitochondria on EM;

Prefixed ID : #540000;

Details

Origin ID

540000;

UMLS CUI

C0162671;

Currated CISMeF NLP mapping
- Juvenile myopathy, encephalopathy, lactic acidosis, stroke (disorder) [SNOMED CT concept]
- MELAS [ORDO Disease]
- MELAS Syndrome [NCIt concept]
- MELAS syndrome [PASCAL descriptor]
- MELAS syndrome [DO Concept]
- MELAS syndrome [Disease (Nov.)]
- MELAS syndrome [MedDRA Preferred Term]
- MELAS syndrome [MeSH Descriptor]
- MELAS syndrome [MeSH concept]
- Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes [MedDRA LLT]
- Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes [ICD-11 More detail]
- juvenile myopathy, encephalopathy, lactic acidosis and stroke [SNOMED Notion]
DO Cross reference
- MELAS syndrome [DO Concept]
HPO term(s)
- Abnormal left ventricular function [HPO term]
- Arrhythmia [HPO term]
- Bilateral sensorineural hearing impairment [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Cerebral visual impairment [HPO term]
- Congestive heart failure [HPO term]
- Cortical blindness [HPO term]
- Dementia [HPO term]
- Developmental cataract [HPO term]
- Diabetes mellitus [HPO term]
- Encephalopathy [HPO term]
- Episodic vomiting [HPO term]
- Growth abnormality [HPO term]
- Hemianopia [HPO term]
- Hemiparesis [HPO term]
- Hypertension [HPO term]
- Lactic acidosis [HPO term]
- Left ventricular hypertrophy [HPO term]
- Migraine [HPO term]
- Mitochondrial inheritance [HPO term]
- Mitochondrial myopathy [HPO term]
- Myopathy [HPO term]
- Ophthalmoplegia [HPO term]
- Progressive bilateral sensorineural hearing loss [HPO term]
- Progressive sensorineural hearing impairment [HPO term]
- Ragged-red muscle fibers [HPO term]
- Stroke-like episode [HPO term]
- Variable expressivity [HPO term]
- Wolff-Parkinson-White syndrome [HPO term]
ORDO concept(s)
- MELAS [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Juvenile myopathy, encephalopathy, lactic acidosis, stroke (disorder) [SNOMED CT concept]
- MELAS [ORDO Disease]
- MELAS Syndrome [NCIt concept]
- MELAS syndrome [MedDRA Preferred Term]
- MELAS syndrome [MeSH Descriptor]
- MELAS syndrome [MeSH concept]
- MELAS syndrome [DO Concept]
- MELAS syndrome [PASCAL descriptor]
- MELAS syndrome [Disease (Nov.)]
- Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes [MedDRA LLT]
- juvenile myopathy, encephalopathy, lactic acidosis and stroke [SNOMED Notion]

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