Adenine Phosphoribosyltransferase Deficiency

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

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.

Genes related to Adenine Phosphoribosyltransferase Deficiency

APRT

View recommended genes panels

Clinical Features

Phenotypes and symptoms related to Adenine Phosphoribosyltransferase Deficiency

Renal insufficiency
Arthritis
Stage 5 chronic kidney disease
Hematuria
Nephropathy
Recurrent urinary tract infections
Nephrolithiasis
Hyperuricemia
Gout
Dysuria

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Adenine Phosphoribosyltransferase Deficiency Is also known as aprt deficiency, 2,8-dihydroxyadenine urolithiasis, urolithiasis, 2,8-dihydroxyadenine, nephrolithiasis, dha, urolithiasis, dha.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Adenine Phosphoribosyltransferase Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
APRT Familial Mutation/Variant Analysis. By Baylor Miraca Genetics Laboratories (United States). APRT Specificity 100 % Genes 100 %
APRT Prenatal Sequence Analysis. By Baylor Miraca Genetics Laboratories (United States). APRT Specificity 100 % Genes 100 %
APRT Sequence Analysis. By Baylor Miraca Genetics Laboratories (United States). APRT Specificity 100 % Genes 100 %
ExomePLUS Electrolyte & Kidney Stone. By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine (United States). SCNN1A, SCNN1B, SLC12A1, SLC12A3, SLC2A2, VDR, WNK4, CASR, BSND, CDC73, SLC22A12, CLCN5, CLCNKB, SLC34A3, CLDN16, CLDN19, FAM20C, FAM20A, HOGA1, CTNS , (...) View the complete list with 28 more genes Panel complete gene list SCNN1A, SCNN1B, SLC12A1, SLC12A3, SLC2A2, VDR, WNK4, CASR, BSND, CDC73, SLC22A12, CLCN5, CLCNKB, SLC34A3, CLDN16, CLDN19, FAM20C, FAM20A, HOGA1, CTNS, CUL3, CYP11B2, CYP24A1, ENPP1, AGXT, FAH, FGF23, GALNT3, GATA3, GCM2, GNA11, GNAS, GRHPR, HPRT1, HSD11B2, AP2S1, KCNJ1, APRT, AQP2, KLHL3, NR3C2, OCRL, ATP6V1B1, ATP6V0A4, PHEX, AVP, AVPR2, PTH Specificity 3 % Genes 100 %
Deficiency of AMP pyrophorylase. By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders (Germany). APRT Specificity 100 % Genes 100 %
Test for Adenine Phosphoribosyltransferase Deficiency. By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders (Germany). APRT Specificity 100 % Genes 100 %
Nephrolithiasis and Nephrocalcinosis Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). SLC12A1, SLC26A1, SLC34A1, SLC3A1, SLC7A9, SLC9A3R1, VDR, XDH, SLC2A9, CA2, CASR, SLC22A12, CLCN5, SLC34A3, CLDN16, CLDN19, ADCY10, FAM20A, HOGA1, CYP24A1 , (...) View the complete list with 9 more genes Panel complete gene list SLC12A1, SLC26A1, SLC34A1, SLC3A1, SLC7A9, SLC9A3R1, VDR, XDH, SLC2A9, CA2, CASR, SLC22A12, CLCN5, SLC34A3, CLDN16, CLDN19, ADCY10, FAM20A, HOGA1, CYP24A1, AGXT, GRHPR, HNF4A, HPRT1, KCNJ1, APRT, OCRL, ATP6V1B1, ATP6V0A4 Specificity 4 % Genes 100 %
Nephrolithiasis and related disorders NGS panel. By Connective Tissue Gene Tests (United States). SLC12A1, SLC26A1, SLC34A1, SLC3A1, SLC7A9, SLC9A3R1, XDH, SLC2A9, CA2, CASR, SLC22A12, CLCN5, SLC34A3, CLDN16, CLDN19, ADCY10, FAM20A, HOGA1, CYP24A1, AGXT , (...) View the complete list with 10 more genes Panel complete gene list SLC12A1, SLC26A1, SLC34A1, SLC3A1, SLC7A9, SLC9A3R1, XDH, SLC2A9, CA2, CASR, SLC22A12, CLCN5, SLC34A3, CLDN16, CLDN19, ADCY10, FAM20A, HOGA1, CYP24A1, AGXT, GNA11, GRHPR, HNF4A, HPRT1, AP2S1, KCNJ1, APRT, OCRL, ATP6V1B1, ATP6V0A4 Specificity 4 % Genes 100 %

You can get up to 9 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like POPLITEAL PTERYGIUM SYNDROME; PPS MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE); MTDPS1 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3; FECD3