Details of Disease

General Information of Disease (ID: DISSFNEV)

Disease Name Hyperprolinemia type 1
Synonyms hyperprolinemia, type 1; hyperprolinemia, type I; HPI; HYRPRO1; PRODH hyperprolinemia; hyperprolinemia type 1; hyperprolinemia caused by mutation in PRODH; proline oxidase deficiency
Definition
Hyperprolinaemia type I is an inborn error of proline metabolism characterized by elevated levels of proline in the plasma and urine. The prevalence is unknown. The disorder is generally considered to be benign but associations with renal abnormalities, epileptic seizures, and other neurological manifestations, as well as certain forms of schizophrenia have been reported. It is transmitted as an autosomal recessive trait and is caused by mutations in the proline dehydrogenase or proline oxidase gene (PRODH or POX, 22q11.2).
Disease Hierarchy
DISV2Y24: Hyperprolinemia
DISSFNEV: Hyperprolinemia type 1
Disease Identifiers
MONDO ID
MONDO_0009400
UMLS CUI
C0268529
OMIM ID
239500
MedGen ID
120645
Orphanet ID
419
SNOMED CT ID
61071003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
PRODH DEVJIHS Limited Biomarker [1]
PRODH DEVJIHS Definitive Autosomal recessive [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PRODH OT7SQ1C7 Definitive Autosomal recessive [2]
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References

1 An atlas of genetic influences on human blood metabolites.Nat Genet. 2014 Jun;46(6):543-550. doi: 10.1038/ng.2982. Epub 2014 May 11.
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.