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hyperprolinemia type 2

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Hyperprolinemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay.
Uniprot Description An inborn error of proline metabolism resulting in elevated plasma levels of proline and delta-1-pyrroline-5-carboxylate (P5C). The condition is considered to be benign, but affected individuals can exhibit neurological manifestations that vary in severity. Clinical signs include seizures, intellectual deficit and mild developmental delay.
Mondo Term and Equivalent IDs
MONDO:0009401:  hyperprolinemia type 2
DOID:0080543: 
GARD:0006710: 
MESH:C538385: 
Orphanet:79101: 
SCTID:717181004: 
UMLS:C2931835: