Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures

Preferred Label : Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures;

Symbol : NEMMLAS;

CISMeF acronym : NEMMLAS;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the tryptophanyl-tRNA synthetase 2 gene (WARS2, 604733.0001);

Laboratory abnormalities : Defects in mitochondrial oxidative phosphorylation (OXPHOS) activity (in some patients); Hypoglycemia; Increased serum lactate;

Prefixed ID : #617710;

Details

Origin ID

617710;

UMLS CUI

C4540192;

Currated CISMeF NLP mapping
- Tryptophanyl tRNA synthetase 2, mitochondrial-related combined oxidative phosphorylation defect (disorder) [SNOMED CT concept]
- WARS2-related combined oxidative phosphorylation defect [ORDO Disease]
Genes related to phenotype
- Tryptophanyl-trna synthetase 2 [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Aggressive behavior [HPO term]
- Amblyopia [HPO term]
- Ataxia [HPO term]
- Athetosis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cardiomyopathy [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral atrophy [HPO term]
- Delayed myelination [HPO term]
- Dysmetria [HPO term]
- Dystonia [HPO term]
- Exotropia [HPO term]
- Feeding difficulties [HPO term]
- Global developmental delay [HPO term]
- Hyperreflexia [HPO term]
- Hypertonia [HPO term]
- Hypoglycemia [HPO term]
- Increased serum lactate [HPO term]
- Intellectual disability [HPO term]
- Intrauterine growth retardation [HPO term]
- Lactic acidosis [HPO term]
- Limb hypertonia [HPO term]
- Muscle weakness [HPO term]
- Neurological speech impairment [HPO term]
- Nystagmus [HPO term]
- Optic atrophy [HPO term]
- Rod-cone dystrophy [HPO term]
- Seizure [HPO term]
- Skeletal muscle atrophy [HPO term]
- Spastic tetraplegia [HPO term]
- Strabismus [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- WARS2-related combined oxidative phosphorylation defect [ORDO Disease]
See also inter- (CISMeF)
- WARS2 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Tryptophanyl tRNA synthetase 2, mitochondrial-related combined oxidative phosphorylation defect (disorder) [SNOMED CT concept]

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