Details of Disease | DrugMAP

General Information of Disease (ID: DISFF60A)

Disease Name	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures
Synonyms	NEMMLAS; neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures
Disease Hierarchy	DISYOKTG: Mendelian neurodevelopmental disorder DISFF60A: Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures
Disease Identifiers	MONDO ID MONDO_0060578 UMLS CUI C4540192 OMIM ID 617710 MedGen ID 1619876 Orphanet ID 572798 SNOMED CT ID 1260128008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
WARS2	OT68H24R	Strong	Autosomal recessive	[1]
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This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
WARS2	DEPTKBQ	Strong	Autosomal recessive	[1]
WARS2	DEPTKBQ	Strong	Genetic Variation	[2]
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References

1	Prevention of atopic dermatitis. F1000 Med Rep. 2012;4:24. doi: 10.3410/M4-24. Epub 2012 Dec 3.
2	Expanding the Phenotype: Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements and Lactic Acidosis, With or Without Seizures (NEMMLAS) due to WARS2 Biallelic Variants, Encoding Mitochondrial Tryptophanyl-tRNA Synthase.J Child Neurol. 2019 Oct;34(12):778-781. doi: 10.1177/0883073819854604. Epub 2019 Jul 8.