Mitochondrial DNA-associated Leigh syndrome

Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome (see this term) characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA.



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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 53

HPO ID Term Frequency
HP:0000816 Abnormality of Krebs cycle metabolism Very frequent (99-80%)
HP:0002490 Increased CSF lactate Very frequent (99-80%)
HP:0000580 Pigmentary retinopathy Frequent (79-30%)
HP:0000597 Ophthalmoparesis Frequent (79-30%)
HP:0001250 Seizures Frequent (79-30%)
HP:0001251 Ataxia Frequent (79-30%)
HP:0001257 Spasticity Frequent (79-30%)
HP:0001276 Hypertonia Frequent (79-30%)
HP:0001324 Muscle weakness Frequent (79-30%)
HP:0001332 Dystonia Frequent (79-30%)
HP:0001508 Failure to thrive Frequent (79-30%)
HP:0002066 Gait ataxia Frequent (79-30%)
HP:0002069 Generalized tonic-clonic seizures Frequent (79-30%)
HP:0002072 Chorea Frequent (79-30%)
HP:0002123 Generalized myoclonic seizures Frequent (79-30%)
HP:0002151 Increased serum lactate Frequent (79-30%)
HP:0002572 Episodic vomiting Frequent (79-30%)
HP:0003648 Lacticaciduria Frequent (79-30%)
HP:0007141 Sensorimotor neuropathy Frequent (79-30%)
HP:0007183 Focal T2 hyperintense basal ganglia lesion Frequent (79-30%)
HP:0008947 Infantile muscular hypotonia Frequent (79-30%)
HP:0011344 Severe global developmental delay Frequent (79-30%)
HP:0100660 Dyskinesia Frequent (79-30%)
HP:0000091 Abnormal renal tubule morphology Occasional (29-5%)
HP:0000407 Sensorineural hearing impairment Occasional (29-5%)
HP:0000510 Rod-cone dystrophy Occasional (29-5%)
HP:0000639 Nystagmus Occasional (29-5%)
HP:0000648 Optic atrophy Occasional (29-5%)
HP:0001265 Hyporeflexia Occasional (29-5%)
HP:0001347 Hyperreflexia Occasional (29-5%)
HP:0001399 Hepatic failure Occasional (29-5%)
HP:0001639 Hypertrophic cardiomyopathy Occasional (29-5%)
HP:0001644 Dilated cardiomyopathy Occasional (29-5%)
HP:0001945 Fever Occasional (29-5%)
HP:0002015 Dysphagia Occasional (29-5%)
HP:0002045 Hypothermia Occasional (29-5%)
HP:0002094 Dyspnea Occasional (29-5%)
HP:0002104 Apnea Occasional (29-5%)
HP:0002240 Hepatomegaly Occasional (29-5%)
HP:0002376 Developmental regression Occasional (29-5%)
HP:0002483 Bulbar signs Occasional (29-5%)
HP:0002883 Hyperventilation Occasional (29-5%)
HP:0003348 Hyperalaninemia Occasional (29-5%)
HP:0003481 Segmental peripheral demyelination/remyelination Occasional (29-5%)
HP:0003737 Mitochondrial myopathy Occasional (29-5%)
HP:0004885 Episodic respiratory distress Occasional (29-5%)
HP:0007108 Demyelinating peripheral neuropathy Occasional (29-5%)
HP:0012469 Infantile spasms Occasional (29-5%)
HP:0031434 Abnormal speech prosody Occasional (29-5%)
HP:0031546 Cardiac conduction abnormality Occasional (29-5%)
HP:0100611 Multiple glomerular cysts Occasional (29-5%)
HP:0003200 Ragged-red muscle fibers Very rare (4-1%)
HP:0003572 Low plasma citrulline Very rare (4-1%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 11

Gene Symbol Gene Name Entrez Gene ID
MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 4508
MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 4535
MT-ND2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 4536
MT-ND3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 4537
MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 4538
MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 4540
MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 4541
MT-TL1 mitochondrially encoded tRNA-Leu (UUA/G) 1 4567
MT-TK mitochondrially encoded tRNA-Lys (AAA/G) 4566
MT-TW mitochondrially encoded tRNA-Trp (UGA/G) 4578
MT-TV mitochondrially encoded tRNA-Val (GUN) 4577