APRT gene related symptoms and diseases

All the information presented here about the APRT gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,OMIM,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to APRT gene

Symptoms // Phenotype % Cases
Renal insufficiency Uncommon - Between 30% and 50% cases
Highly arched eyebrow Uncommon - Between 30% and 50% cases
Upslanted palpebral fissure Uncommon - Between 30% and 50% cases
Autism Uncommon - Between 30% and 50% cases
High forehead Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with APRT gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Intellectual disability, moderate
  • Protruding ear
  • Autistic behavior
  • Wide mouth
  • Dilated cardiomyopathy
  • Smooth philtrum
  • Astigmatism
  • Long face

And 46 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to APRT gene

Here you will find a list of rare diseases related to the APRT. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY


Alternate names

ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY Is also known as aprt deficiency, 2,8-dihydroxyadenine urolithiasis, urolithiasis, 2,8-dihydroxyadenine, nephrolithiasis, dha, urolithiasis, dha

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.

Most common symptoms of ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY

  • Renal insufficiency
  • Arthritis
  • Stage 5 chronic kidney disease
  • Hematuria
  • Nephropathy


More info about ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY

SOURCES: ORPHANET OMIM

16Q24.3 MICRODELETION SYNDROME


Alternate names

16Q24.3 MICRODELETION SYNDROME Is also known as monosomy 16q24.3, del(16)(q24.3)

Description

16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.

Most common symptoms of 16Q24.3 MICRODELETION SYNDROME

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Scoliosis
  • Nystagmus


More info about 16Q24.3 MICRODELETION SYNDROME

SOURCES: ORPHANET


Potential gene panels for APRT gene

APRT Familial Mutation/Variant Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the APRT gene.

More info about this panel

APRT Prenatal Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the APRT gene.

More info about this panel

APRT Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the APRT gene.

More info about this panel

ExomePLUS Electrolyte & Kidney Stone Panel

United States.

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine ExomePLUS Electrolyte & Kidney Stone that also includes the following genes: SCNN1A SCNN1B SLC12A1 SLC12A3 SLC2A2 VDR WNK4 CASR BSND CDC73

More info about this panel

Deficiency of AMP pyrophorylase Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the APRT gene.

More info about this panel

Test for Adenine Phosphoribosyltransferase Deficiency Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the APRT gene.

More info about this panel

Nephrolithiasis and Nephrocalcinosis Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Nephrolithiasis and Nephrocalcinosis Sequencing Panel with CNV Detection that also includes the following genes: SLC12A1 SLC26A1 SLC34A1 SLC3A1 SLC7A9 SLC9A3R1 VDR XDH SLC2A9 CA2

More info about this panel

Nephrolithiasis and related disorders NGS panel Panel

United States.

By Connective Tissue Gene Tests Nephrolithiasis and related disorders NGS panel that also includes the following genes: SLC12A1 SLC26A1 SLC34A1 SLC3A1 SLC7A9 SLC9A3R1 XDH SLC2A9 CA2 CASR

More info about this panel

Nephrolithiasis and related disorders Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Nephrolithiasis and related disorders Comprehensive panel that also includes the following genes: SLC12A1 SLC26A1 SLC34A1 SLC3A1 SLC7A9 SLC9A3R1 XDH SLC2A9 CA2 CASR

More info about this panel

Nephrolithiasis and related disorders Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Nephrolithiasis and related disorders Deletion / Duplication panel that also includes the following genes: SLC12A1 SLC26A1 SLC34A1 SLC3A1 SLC7A9 SLC9A3R1 XDH SLC2A9 CA2 CASR

More info about this panel

Hereditary kidney disorders - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8

More info about this panel

Adenine phosphoribosyltransferase deficiency Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the APRT gene.

More info about this panel

APRT Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the APRT gene.

More info about this panel

KidneySeq - 264 Genes Panel

United States.

By Iowa Institute of Human Genetics University of Iowa KidneySeq - 264 Genes that also includes the following genes: ROBO2 CNNM2 SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 BMP4 SEMA3E

More info about this panel

Comprehensive Metabolism Panel Panel

Finland.

By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3

More info about this panel

Nephrolithiasis Panel Panel

Finland.

By Blueprint Genetics Nephrolithiasis Panel that also includes the following genes: SLC12A1 SLC26A1 SLC34A1 SLC3A1 SLC7A9 SLC9A3R1 VDR XDH SLC2A9 CA2

More info about this panel

Purine and Pyrimidine Metabolism Disorders Panel Panel

Finland.

By Blueprint Genetics Purine and Pyrimidine Metabolism Disorders Panel that also includes the following genes: TPMT UMOD UMPS XDH GPHN UPB1 NT5C3A MOCOS ADA DHODH

More info about this panel


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