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