Pyrroline-5-carboxylate reductase 1 deficiency

(PYCR1 deficiency)

Type

Disease
External link(s)
- IEMbase
Gene
- PYCR1 / Pyrroline-5-carboxylate reductase 1
  17q25.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Pyrroline-5-carboxylate reductase 1
Pathway
- Ornithine, proline and hydroxyproline metabolism
Disease group(s)
- 1.7 Disorders of ornithine, proline and hydroxyproline metabolism
Child entries
- PYCR1 deficiency, cutis laxa phenotype
- PYCR1-related De Barsy syndrome