|
gptkbp:instanceOf
|
gptkb:genetic_disorder
gptkb:mitochondrial_disease
|
|
gptkbp:abbreviation
|
gptkb:MELAS
|
|
gptkbp:affects
|
gptkb:nervous_system
muscles
multiple organs
|
|
gptkbp:category
|
gptkb:mitochondrial_disorder
gptkb:muscular_dystrophy
gptkb:rare_disease
|
|
gptkbp:causedBy
|
gptkb:MT-ND5_gene_mutation
gptkb:MT-TL1_gene_mutation
mutations in mitochondrial DNA
|
|
gptkbp:complication
|
gptkb:kidney_disease
gptkb:dementia
gptkb:diabetes
gptkb:cardiomyopathy
hearing impairment
vision loss
|
|
gptkbp:diagnosedBy
|
genetic testing
muscle biopsy
blood lactate test
|
|
gptkbp:firstDescribed
|
1984
|
|
gptkbp:frequency
|
rare
|
|
gptkbp:hasOrphanetID
|
ORPHA:320
|
|
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
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
MELAS syndrome
|