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.
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
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
Search interest in APRT
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 United States.
APRT Prenatal Sequence Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the APRT gene.
More info about this panel United States.
APRT Sequence Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the APRT gene.
More info about this panel United States.
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 United States.
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 Germany.
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 Germany.
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 United States.
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 United States.
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 United States.
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 United States.
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 Germany.
Adenine phosphoribosyltransferase deficiency Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the APRT gene.
More info about this panel Germany.
APRT Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the APRT gene.
More info about this panel United States.
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 United States.
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 Finland.
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 Finland.
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 Finland.
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