Details of Disease

General Information of Disease (ID: DISUFH0J)

• Disease Name: P5CS deficiency
• Synonyms: delta1-pyrroline-5-carboxylate synthetase deficiency; P5CS deficiency
• Definition: An inborn error of proline/orinthine metabolism that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the aldehyde dehydrogenase 18 family member A1 (ALDH18A1) gene. These variants lead to a variety of neurocutaneous and motor syndromes characterized by cutis laxa, connective tissue weakness, facial dysmorphism, growth restriction, developmental delay, cataracts, hypotonia, hypertonia, and amyotrophy.
• Disease Hierarchy:
  DIS5BDC1: Inborn disorder of ornithine metabolism
  DIS179YA: Inborn disorder of proline metabolism
  DISUFH0J: P5CS deficiency

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ALDH18A1	OT6W40XU	Definitive	Semidominant	[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.