XPNPEP3 gene related symptoms and diseases
All the information presented here about the XPNPEP3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to XPNPEP3 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Uncommon - Between 30% and 50% cases |
| Renal cyst | Uncommon - Between 30% and 50% cases |
| Renal corticomedullary cysts | Uncommon - Between 30% and 50% cases |
| Chronic pancreatitis | Uncommon - Between 30% and 50% cases |
| Pancreatic cysts | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with XPNPEP3 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Kinetic tremor
- Tubular atrophy
- Gout
- Arachnoid cyst
- Nephronophthisis
- Pancreatitis
- Retinal degeneration
- Seizures
And 10 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to XPNPEP3 gene
Here you will find a list of rare diseases related to the XPNPEP3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1; NPHPL1
Description
Nephronophthisis is an autosomal recessive cystic kidney disease characterized by onset of end-stage renal failure in the first 3 decades of life. The disorder is often associated with extrarenal manifestations, including liver fibrosis, retinal degeneration, and central nervous system abnormalities (summary by O'Toole et al., 2010).For a general phenotypic description and a discussion of genetic heterogeneity of nephronophthisis, see NPHP1 (OMIM ).
Most common symptoms of NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1; NPHPL1
- Intellectual disability
- Seizures
- Hearing impairment
- Sensorineural hearing impairment
- Hypertension
More info about NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1; NPHPL1
SOURCES: OMIM
LATE-ONSET NEPHRONOPHTHISIS
Search interest in XPNPEP3
Potential gene panels for XPNPEP3 gene
MitoMet®Plus aCGH Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65
More info about this panel United States.
Ciliopathies Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Ciliopathies that also includes the following genes: RPE65 RPGR SDCCAG8 TSC1 TSC2 CEP41 TULP1 USH1C USH2A CLRN1
More info about this panel United States.
Nephronophthisis Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Nephronophthisis Deletion/Duplication Panel that also includes the following genes: SDCCAG8 NEK8 ZNF423 INVS CEP83 DCDC2 WDR19 NPHP4 TTC21B ANKS6
More info about this panel United States.
Renal Cystic Disorders Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Renal Cystic Disorders Sequencing Panel that also includes the following genes: SALL1 SDCCAG8 HNF1B TFAP2A TSC1 TSC2 CEP41 UMOD VHL ARL6
More info about this panel United States.
Nephronophthisis Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Nephronophthisis Sequencing Panel that also includes the following genes: SDCCAG8 NEK8 ZNF423 INVS CEP83 DCDC2 WDR19 NPHP4 TTC21B ANKS6
More info about this panel United States.
Nephronophthisis-like nephropathy 1 (sequence analysis of XPNPEP3 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the XPNPEP3 gene.
More info about this panel Portugal.
Nephronophthisis (NGS panel for 19 genes) Panel
Portugal.
By CGC Genetics Nephronophthisis (NGS panel for 19 genes) that also includes the following genes: SDCCAG8 NEK8 ZNF423 INVS CEP83 DCDC2 WDR19 NPHP4 TTC21B ANKS6
More info about this panel Portugal.
Ciliopathies (NGS panel for 90 genes) Panel
Portugal.
By CGC Genetics Ciliopathies (NGS panel for 90 genes) that also includes the following genes: SDCCAG8 SPAG1 CEP41 RSPH1 CFAP298 ARL6 NEK8 TMEM237 TRIM32 NME8
More info about this panel Portugal.
Nephronophthisis-Like Nephropathy-1 (NPHPL1) via XPNPEP3 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the XPNPEP3 gene.
More info about this panel United States.
Nephronophthisis and related disorders NGS panel Panel
United States.
By Connective Tissue Gene Tests Nephronophthisis and related disorders NGS panel that also includes the following genes: SDCCAG8 CEP41 NEK8 ZNF423 TRAF3IP1 INVS CEP83 DCDC2 WDR19 NPHP4
More info about this panel United States.
Nephronophthisis and related disorders Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Nephronophthisis and related disorders Comprehensive panel that also includes the following genes: SDCCAG8 CEP41 NEK8 ZNF423 TRAF3IP1 INVS CEP83 DCDC2 WDR19 NPHP4
More info about this panel United States.
Nephronophthisis and related disorders Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Nephronophthisis and related disorders Deletion / Duplication panel that also includes the following genes: SDCCAG8 CEP41 NEK8 ZNF423 TRAF3IP1 INVS CEP83 DCDC2 WDR19 NPHP4
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.
Nephronophthisis-like nephropathy 1 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the XPNPEP3 gene.
More info about this panel Germany.
Nephronophthisis Panel Panel
Germany.
By CeGaT GmbH Nephronophthisis Panel that also includes the following genes: NEK8 ZNF423 INVS CEP83 DCDC2 WDR19 NPHP4 SLC41A1 TTC21B ANKS6
More info about this panel Germany.
Nuclear encoded Mitochondriopathies Panel Panel
Germany.
By CeGaT GmbH Nuclear encoded Mitochondriopathies Panel that also includes the following genes: RMRP BCS1L MRPL3 SACS SCO1 SCO2 SDHA SDHB SDHC SDHD
More info about this panel Germany.
Invitae Nephronophthisis Panel Panel
United States.
By Invitae Invitae Nephronophthisis Panel that also includes the following genes: SDCCAG8 NEK8 TMEM237 ZNF423 INVS CEP83 DCDC2 WDR19 NPHP4 AHI1
More info about this panel United States.
Invitae Ciliopathies Panel Panel
United States.
By Invitae Invitae Ciliopathies Panel that also includes the following genes: RPGR SDCCAG8 SPAG1 CEP41 RSPH1 CFAP298 ARL6 NEK8 IFT122 TMEM237
More info about this panel United States.
Ciliopathies: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Ciliopathies: Sequencing Panel that also includes the following genes: RPE65 RPGR ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 TSC1 TSC2 CEP41
More info about this panel United States.
Ciliopathies: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Ciliopathies: Deletion/Duplication Panel that also includes the following genes: RPE65 RPGR ATXN10 SDCCAG8 TSC1 TSC2 TULP1 UMOD USH1C USH2A
More info about this panel United States.
Ciliopathies NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Ciliopathies NGS Panel that also includes the following genes: RPE65 RPGR ATXN10 SDCCAG8 TULP1 UMOD USH1C USH2A CLRN1 VHL
More info about this panel United States.
Intellectual Disability NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3
More info about this panel United States.
Nuclear-Mito NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7
More info about this panel United States.
XPNPEP3 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the XPNPEP3 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.
Cystic Disease and Nephronopthisis Gene Set Panel
United States.
By Genomics and Pathology Services Washington University in St. Louis Cystic Disease and Nephronopthisis Gene Set that also includes the following genes: SIX5 HNF1B UMOD NEK8 INVS CRB2 NPHP4 BICC1 AHI1 TTC21B
More info about this panel United States.
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