Details of Disease | DrugMAP

General Information of Disease (ID: DIS05BFD)

Disease Name	Glutamate pyruvate transaminase 2 deficiency
Synonyms	MRT49; mental retardation, autosomal recessive type 49; neurodevelopmental disorder with microcephaly and spastic paraplegia; GPT2 deficiency; GPT2 Deficiency; postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome; glutamate pyruvate transaminase 2 deficiency; mental retardation, autosomal recessive 49
Disease Hierarchy	DIS9KXQY: Complex hereditary spastic paraplegia DIS05BFD: Glutamate pyruvate transaminase 2 deficiency
Disease Identifiers	MONDO ID MONDO_0014567 UMLS CUI C4225388 OMIM ID 616281 MedGen ID 906606 Orphanet ID 477673

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
GPT2	OTS5VF7N	Definitive	Autosomal recessive	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.