Details of Disease

General Information of Disease (ID: DISCF5UM)

• Disease Name: Neurometabolic disorder due to serine deficiency
• Synonyms: serine deficiency; neurometabolic disorder due to serine deficiency
• Definition: Serine-deficiency syndrome is a very rare infantile-onset potentially treatable neurometabolic disorder characterized clinically by microcephaly, neurodevelopmental disorders and seizures. Three serine-deficiency syndromes have been described: 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, 3-phosphoserine phosphatase (3-PSP) deficiency, and phosphoserine aminotransferase deficiency.|This term was considered for obsoletion, but it is used by ClinGen and they requested we keep it.
• Disease Hierarchy:
  DISF52P8: Inborn serine deficiency
  DISCF5UM: Neurometabolic disorder due to serine deficiency
• Disease Identifiers:
  MONDO ID: MONDO_0018162
  UMLS CUI: C5680148
  MedGen ID: 1842451
  Orphanet ID: 35705

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PHGDH	TT8DRCK	Definitive	Autosomal recessive	[1]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
PSAT1	DEBS17P	Definitive	Autosomal recessive	[1]

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PSPH	OTV1PVAX	Moderate	Autosomal recessive	[1]
PHGDH	OT1LMRTG	Definitive	Autosomal recessive	[1]
PSAT1	OTVV1YV9	Definitive	Autosomal recessive	[1]

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.