Adenine Phosphoribosyltransferase Deficiency

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.

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.


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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
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
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
Specificity
4 %
Genes
100 %

We have 9 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Symptoms Checker

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