GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version
Hyperprolinemia Type 2  
Disease Aliases (19)

1 alpha pyrroline-5-carboxylate dehydrogenase deficiency

1-pyrroline-5-carboxylate dehydrogenase deficiency

Aldh4a1 hyperprolinemia

Deficiency of pyrroline-5-carboxylate reductase

Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency

Hpii

Hyrpro2

Hyperprolinemia type 2

Hyperprolinemia type ii

Hyperprolinemia, type ii

Pyrroline carboxylate dehydrogenase deficiency

Pyrroline-5-carboxylate dehydrogenase deficiency

Pyrroline-5-carboxylate reductase deficiency

Type 2 hyperprolinemia

Delta'-pyrroline-5-carboxylate dehydrogenase deficiency

Delta1-pyrroline-5-carboxylate dehydrogenase deficiency

Hyperprolinemia caused by mutation in aldh4a1

Hyperprolinemia, type 2

Hyperprolinemia, type ii; hyrpro2

Associated Genes (1)
 

NCBI-RefSeq:  ALDH4A1   (Aldehyde dehydrogenase 4 family member A1)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of Hyperprolinemia type 2 OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations