Details of Disease

General Information of Disease (ID: DISR0LB5)

Disease Name 5-oxoprolinase deficiency
Synonyms
5-alpha-oxoprolinase deficiency; oxoprolinuria due to 5-oxoprolinase deficiency; OPLAHD; inborn 5-oxoprolinase (ATP-hydrolyzing) activity disorder; 5-oxoprolinase deficiency (disease); rare inborn error of 5-oxoprolinase (ATP-hydrolyzing) activity; inborn error of 5-oxoprolinase (ATP-hydrolyzing) activity; oxoprolinuria due to oxoprolinase deficiency; 5-oxoprolinase deficiency
Definition 5-Oxoprolinase deficiency is clinically a very heterogeneous condition characterized by 5-oxoprolinuria.
Disease Hierarchy
DISHJT9E: Inherited glutathione metabolism disease
DISO5FAY: Inborn error of metabolism
DISR0LB5: 5-oxoprolinase deficiency
Disease Identifiers
MONDO ID
MONDO_0009825
MESH ID
C535322
UMLS CUI
C0268525
OMIM ID
260005
MedGen ID
82814
HPO ID
HP:0040142
Orphanet ID
33572
SNOMED CT ID
26132002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
GSS TTVEWR4 Strong Biomarker [1]
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This Disease Is Related to 2 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
OPLAH DEJ1LMB moderate Biomarker [2]
OPLAH DEJ1LMB Strong Autosomal recessive [3]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
OPLAH OTX7S4OW Strong Autosomal recessive [3]
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References

1 Five Chinese patients with 5-oxoprolinuria due to glutathione synthetase and 5-oxoprolinase deficiencies.Brain Dev. 2015 Nov;37(10):952-9. doi: 10.1016/j.braindev.2015.03.005. Epub 2015 Apr 4.
2 Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families.Mol Genet Metab. 2016 Sep;119(1-2):44-9. doi: 10.1016/j.ymgme.2016.07.008. Epub 2016 Jul 22.
3 5-Oxoprolinase deficiency: report of the first human OPLAH mutation. Clin Genet. 2012 Aug;82(2):193-6. doi: 10.1111/j.1399-0004.2011.01728.x. Epub 2011 Jun 30.