Details of Disease | DrugMAP

General Information of Disease (ID: DISSEJ2T)

Disease Name	Hyperprolinemia type 2
Synonyms	hyperprolinemia, type II; HPII; 1-pyrroline-5-carboxylate dehydrogenase deficiency; hyperprolinemia, type 2; type 2 hyperprolinemia; 1 alpha pyrroline-5-carboxylate dehydrogenase deficiency; HYRPRO2; ALDH4A1 hyperprolinemia; delta1-pyrroline-5-carboxylate dehydrogenase deficiency; hyperprolinemia type 2; hyperprolinemia caused by mutation in ALDH4A1
Definition	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.
Disease Hierarchy	DISV2Y24: Hyperprolinemia DISSEJ2T: Hyperprolinemia type 2
Disease Identifiers	MONDO ID MONDO_0009401 MESH ID C538385 UMLS CUI C2931835 OMIM ID 239510 MedGen ID 419175 Orphanet ID 79101 SNOMED CT ID 124177001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PLPBP	OT9DZ8P6	Strong	Biomarker	[1]
ALDH4A1	OT25Z6XH	Definitive	Autosomal recessive	[2]
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References

1	Disorders affecting vitamin B(6) metabolism.J Inherit Metab Dis. 2019 Jul;42(4):629-646. doi: 10.1002/jimd.12060. Epub 2019 Mar 20.
2	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.