Details of Disease

General Information of Disease (ID: DISV2Y24)

Disease Name Hyperprolinemia
Synonyms proline hydrogenase deficiency; hyperprolinemia type 1; proline oxidase deficiency
Definition
Hyperprolinemia is when there isan excess of a particular protein building block (amino acid), called proline, in the blood. This condition generally occurs when proline is not broken down properly by the body. There are two inherited forms:hyperprolinemia type1 and hyperprolinemia type 2. People with hyperprolinemia type I often do not show any symptoms, although they have proline levels in their blood between 3 and 10 times the normal level. Less commonly, affected individuals can experience seizures, intellectual disability, or other neurological or psychiatric problems. Hyperprolinemia is caused by mutations in the PRODH gene and is inherited in an autosomal recessive pattern.
Disease Hierarchy
DIS179YA: Inborn disorder of proline metabolism
DISV2Y24: Hyperprolinemia
Disease Identifiers
MONDO ID
MONDO_0023419
UMLS CUI
C0268528
MedGen ID
75690
HPO ID
HP:0008358
SNOMED CT ID
59655002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC25A22 DTJCWP8 Strong Genetic Variation [1]
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This Disease Is Related to 1 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
PRODH DEVJIHS moderate Biomarker [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ALDH4A1 OT25Z6XH moderate Genetic Variation [3]
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References

1 Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay.J Inherit Metab Dis. 2017 May;40(3):385-394. doi: 10.1007/s10545-017-0025-7. Epub 2017 Mar 2.
2 Vitamin D insufficiency and schizophrenia risk: evaluation of hyperprolinemia as a mediator of association.Schizophr Res. 2014 Jun;156(1):15-22. doi: 10.1016/j.schres.2014.03.017. Epub 2014 Apr 29.
3 The three-dimensional structural basis of type II hyperprolinemia.J Mol Biol. 2012 Jul 13;420(3):176-89. doi: 10.1016/j.jmb.2012.04.010. Epub 2012 Apr 16.