Details of Disease | DrugMAP

General Information of Disease (ID: DISD3IJD)

Disease Name	PSPH deficiency
Synonyms	3-phosphoserine phosphatase deficiency; phosphoserine phosphatase deficiency; PSPHD; PSPH deficiency
Definition	3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome.
Disease Hierarchy	DISCF5UM: Neurometabolic disorder due to serine deficiency DISD3IJD: PSPH deficiency
Disease Identifiers	MONDO ID MONDO_0013531 UMLS CUI C1291463 OMIM ID 614023 MedGen ID 452940 Orphanet ID 79350 SNOMED CT ID 124432005

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
PSPH	OTV1PVAX	Definitive	Autosomal recessive	[1]
------------------------------------------------------------------------------------

References

1	Mutations responsible for 3-phosphoserine phosphatase deficiency. Eur J Hum Genet. 2004 Feb;12(2):163-6. doi: 10.1038/sj.ejhg.5201083.