Details of Disease | DrugMAP

General Information of Disease (ID: DISNXD8Z)

Disease Name	PSAT deficiency
Synonyms	PSATD; phosphoserine aminotransferase deficiency; PSAT deficiency
Definition	Phosphoserine aminotransferase deficiency is an extremely rare form of serine deficiency syndrome characterized clinically in the two reported cases to date by acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia.
Disease Hierarchy	DISCF5UM: Neurometabolic disorder due to serine deficiency DISNXD8Z: PSAT deficiency
Disease Identifiers	MONDO ID MONDO_0012596 MESH ID C567032 UMLS CUI C1970253 OMIM ID 610992 MedGen ID 410026 Orphanet ID 284417 SNOMED CT ID 718603002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
PSAT1	DEBS17P	Limited	Genetic Variation	[1]
PSAT1	DEBS17P	Strong	Autosomal recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PSAT1	OTVV1YV9	Strong	Autosomal recessive	[2]
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References

1	Phosphoserine aminotransferase deficiency: imaging findings in a child with congenital microcephaly.J Matern Fetal Neonatal Med. 2020 Mar;33(6):1033-1035. doi: 10.1080/14767058.2018.1514375. Epub 2018 Sep 19.
2	Phosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathway. Am J Hum Genet. 2007 May;80(5):931-7. doi: 10.1086/517888. Epub 2007 Mar 30.