Details of Disease

General Information of Disease (ID: DISL7NZ6)

Disease Name Adenine phosphoribosyltransferase deficiency
Synonyms
APRTD; urolithiasis, Dha; Dihydroxyadeninuria; nephrolithiasis, Dha; urolithiasis, 2,8-dihydroxyadenine; adenine phosphoribosyltransferase deficiency; APRT deficiency; 2,8-dihydroxyadeninuria disease; 2,8-dihydroxyadenine urolithiasis
Definition
Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy.
Disease Hierarchy
DISQZI8H: Inborn disorder of purine metabolism
DISFWXCM: Inborn disorder of amino acid metabolism
DISL7NZ6: Adenine phosphoribosyltransferase deficiency
Disease Identifiers
MONDO ID
MONDO_0013869
MESH ID
C538228
UMLS CUI
C0268120
OMIM ID
614723
MedGen ID
82772
Orphanet ID
976
SNOMED CT ID
124274002

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
APRT DE2MV1R Definitive Autosomal recessive [1]
APRT DE2MV1R Definitive 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
APRT OT5ZUKVF Definitive Autosomal recessive [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
2 Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.Brain. 2016 Nov 1;139(11):2844-2854. doi: 10.1093/brain/aww221.