MELAS syndrome

GPTKB entity

Statements (49)
Predicate Object
gptkbp:instanceOf genetic disorder
mitochondrial disease
gptkbp:abbreviation gptkb:MELAS
gptkbp:affects gptkb:nervous_system
muscles
multiple organs
gptkbp:category gptkb:mitochondrial_disorder
rare disease
muscular dystrophy
gptkbp:causedBy gptkb:MT-ND5_gene_mutation
gptkb:MT-TL1_gene_mutation
mutations in mitochondrial DNA
gptkbp:complication gptkb:dementia
gptkb:diabetes
hearing impairment
kidney disease
vision loss
cardiomyopathy
gptkbp:diagnosedBy genetic testing
muscle biopsy
blood lactate test
gptkbp:firstDescribed 1984
gptkbp:frequency rare
gptkbp:hasOrphanetID ORPHA:320
https://www.w3.org/2000/01/rdf-schema#label MELAS syndrome
gptkbp:ICD-10_code G31.81
gptkbp:inheritance maternal
gptkbp:MeSH_ID D020158
gptkbp:OMIM 540000
gptkbp:onset childhood
adolescence
gptkbp:prognosis progressive
gptkbp:standsFor gptkb:Mitochondrial_Encephalomyopathy,_Lactic_Acidosis,_and_Stroke-like_episodes
gptkbp:symptom gptkb:diabetes_mellitus
vomiting
short stature
muscle weakness
hearing loss
seizures
lactic acidosis
recurrent headaches
stroke-like episodes
gptkbp:treatment gptkb:coenzyme_Q10
anticonvulsants
arginine
symptomatic management
L-carnitine
gptkbp:bfsParent gptkb:P00441
gptkbp:bfsLayer 6