Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
- Synonyms
- MELAS syndrome; Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes
- Modes of inheritance
- Mitochondrial inheritance (Orphanet)
Not genetically inherited (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Genes See tests for all associated and related genes
Also known as: COI, MTCO1, COX1
Summary: mitochondrially encoded cytochrome c oxidase IAlso known as: COII, MTCO2, COX2
Summary: mitochondrially encoded cytochrome c oxidase IIAlso known as: COIII, MTCO3, COX3
Summary: mitochondrially encoded cytochrome c oxidase IIIAlso known as: MTCYB, CYTB
Summary: mitochondrially encoded cytochrome bAlso known as: MTND1, ND1
Summary: mitochondrially encoded NADH dehydrogenase 1Also known as: MTND5, ND5
Summary: mitochondrially encoded NADH dehydrogenase 5Also known as: MTND6, ND6
Summary: mitochondrially encoded NADH dehydrogenase 6Also known as: MTTC, TRNC
Summary: mitochondrially encoded tRNA cysteineAlso known as: , TRNF
Summary: mitochondrially encoded tRNA phenylalanineAlso known as: MTTK, TRNK
Summary: mitochondrially encoded tRNA lysineAlso known as: MTTL1, TRNL1
Summary: mitochondrially encoded tRNA leucine 1 (UUA/G)Also known as: MTTQ, TRNQ
Summary: mitochondrially encoded tRNA glutamineAlso known as: MTTS1, TRNS1
Summary: mitochondrially encoded tRNA serine 1 (UCN)Also known as: MTTS2, TRNS2
Summary: mitochondrially encoded tRNA serine 2 (AGU/C)Also known as: MTTV, TRNV
Summary: mitochondrially encoded tRNA valineAlso known as: MTTW, TRNW
Summary: mitochondrially encoded tRNA tryptophan
Clinical features
Help- Abnormality of metabolism/homeostasis
- Diabetes mellitus
Diabetes mellitus
- MedGen UID: 8350
- Concept ID: C0011849
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Lactic acidosis
Lactic acidosis
- MedGen UID: 1717
- Concept ID: C0001125
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Diabetes mellitus
- Abnormality of the cardiovascular system
- Abnormal left ventricular function
Abnormal left ventricular function
- MedGen UID: 69237
- Concept ID: C0242698
- Finding: Pathologic Function
Abnormality of the cardiovascular system
- Cardiac arrhythmia
Cardiac arrhythmia
- MedGen UID: 2039
- Concept ID: C0003811
- Finding: Finding
Abnormality of the cardiovascular system
- Congestive heart failure
Congestive heart failure
- MedGen UID: 9169
- Concept ID: C0018802
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Hypertensive disorder
Hypertensive disorder
- MedGen UID: 6969
- Concept ID: C0020538
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Left ventricular hypertrophy
Left ventricular hypertrophy
- MedGen UID: 57442
- Concept ID: C0149721
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Stroke-like episode
Stroke-like episode
- MedGen UID: 346558
- Concept ID: C1857287
- Finding: Finding
Abnormality of the cardiovascular system
- Wolff-Parkinson-White pattern
Wolff-Parkinson-White pattern
- MedGen UID: 12162
- Concept ID: C0043202
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Abnormal left ventricular function
- Abnormality of the digestive system
- Episodic vomiting
Episodic vomiting
- MedGen UID: 333228
- Concept ID: C1838993
- Finding: Finding
Abnormality of the digestive system
- Episodic vomiting
- Abnormality of the eye
- Cerebral visual impairment
Cerebral visual impairment
- MedGen UID: 890568
- Concept ID: C4048268
- Finding: Pathologic Function
Abnormality of the eye
- Developmental cataract
Developmental cataract
- MedGen UID: 3202
- Concept ID: C0009691
- Finding: Congenital Abnormality
Abnormality of the eye
- Hemianopia
Hemianopia
- MedGen UID: 9193
- Concept ID: C0018979
- Finding: Finding
Abnormality of the eye
- Ophthalmoplegia
Ophthalmoplegia
- MedGen UID: 45205
- Concept ID: C0029089
- Finding: Sign or Symptom
Abnormality of the eye
- Cerebral visual impairment
- Abnormality of the musculoskeletal system
- Inborn mitochondrial myopathy
Inborn mitochondrial myopathy
- MedGen UID: 56484
- Concept ID: C0162670
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Myopathy
Myopathy
- MedGen UID: 10135
- Concept ID: C0026848
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Ragged-red muscle fibers
Ragged-red muscle fibers
- MedGen UID: 477048
- Concept ID: C3275417
- Finding: Finding
Abnormality of the musculoskeletal system
- Inborn mitochondrial myopathy
- Abnormality of the nervous system
- Bilateral tonic-clonic seizure
Bilateral tonic-clonic seizure
- MedGen UID: 141670
- Concept ID: C0494475
- Finding: Sign or Symptom
Abnormality of the nervous system
- Dementia
Dementia
- MedGen UID: 99229
- Concept ID: C0497327
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Encephalopathy
Encephalopathy
- MedGen UID: 39314
- Concept ID: C0085584
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Hemiparesis
Hemiparesis
- MedGen UID: 6783
- Concept ID: C0018989
- Finding: Finding
Abnormality of the nervous system
- Migraine
Migraine
- MedGen UID: 57451
- Concept ID: C0149931
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Bilateral tonic-clonic seizure
- Ear malformation
- Bilateral sensorineural hearing impairment
Bilateral sensorineural hearing impairment
- MedGen UID: 96788
- Concept ID: C0452138
- Finding: Disease or Syndrome
Ear malformation
- Progressive sensorineural hearing impairment
Progressive sensorineural hearing impairment
- MedGen UID: 335894
- Concept ID: C1843156
- Finding: Disease or Syndrome
Ear malformation
- Bilateral sensorineural hearing impairment
- Growth abnormality
- Growth abnormality
Growth abnormality
- MedGen UID: 808205
- Concept ID: C0262361
- Finding: Finding
Growth abnormality
- Growth abnormality
- OMIM
- View MT-TC variations in ClinVar
- View MT-CO1 variations in ClinVar
- View MT-CO2 variations in ClinVar
- View MT-CO3 variations in ClinVar
- View MT-CYB variations in ClinVar
- View MT-ND1 variations in ClinVar
- View MT-ND5 variations in ClinVar
- View MT-ND6 variations in ClinVar
- View MT-TF variations in ClinVar
- View MT-TK variations in ClinVar
- View MT-TL1 variations in ClinVar
- View MT-TQ variations in ClinVar
- View MT-TS1 variations in ClinVar
- View MT-TS2 variations in ClinVar
- View MT-TV variations in ClinVar
- View MT-TW variations in ClinVar
- Coriell Institute for Medical Research
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