UMOD gene related symptoms and diseases
All the information presented here about the UMOD gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to UMOD gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Renal insufficiency | Common - Between 50% and 80% cases |
| Abnormality of the kidney | Common - Between 50% and 80% cases |
| Stage 5 chronic kidney disease | Common - Between 50% and 80% cases |
| Renal cyst | Common - Between 50% and 80% cases |
| Hyperuricemia | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with UMOD gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Nephropathy
- Nephritis
- Gout
- Tubulointerstitial nephritis
- Arthritis
- Multiple glomerular cysts
Rarely - Less than 30% cases
- Hyperechogenic kidneys
- Polycystic kidney dysplasia
And 10 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to UMOD gene
Here you will find a list of rare diseases related to the UMOD. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MEDULLARY CYSTIC KIDNEY DISEASE 2; MCKD2
Alternate names
MEDULLARY CYSTIC KIDNEY DISEASE 2; MCKD2 Is also known as admckd2, medullary cystic kidney disease 2, autosomal dominant
Description
Medullary cystic kidney disease (MCKD) is an autosomal dominant form of tubulointerstitial nephropathy characterized by formation of renal cysts at the corticomedullary junction. It is characterized by adult onset of impaired renal function and salt wasting resulting in end-stage renal failure by the sixth decade (Wolf et al., 2004).For a general phenotypic description and a discussion of genetic heterogeneity of medullary cystic kidney disease, see MCKD1 (OMIM ).
Most common symptoms of MEDULLARY CYSTIC KIDNEY DISEASE 2; MCKD2
- Renal insufficiency
- Arthritis
- Abnormality of the kidney
- Stage 5 chronic kidney disease
- Nephropathy
More info about MEDULLARY CYSTIC KIDNEY DISEASE 2; MCKD2
SOURCES: OMIM
FAMILIAL JUVENILE HYPERURICEMIC NEPHROPATHY TYPE 1
Alternate names
FAMILIAL JUVENILE HYPERURICEMIC NEPHROPATHY TYPE 1 Is also known as familial nephropathy with gout, umod-associated fjhn, hnfj, familial juvenile hyperuricemic nephropathy, gouty nephropathy, familial juvenile, familial juvenile gouty nephropathy, fjhn type 1, fjhn, hyperuricemic nephropathy, familial juvenile, umod-associated fam
Description
Familial juvenile hyperuricemic nephropathy type 1 (FJHN1) is a rare kidney disorder characterized by hyperuricemia, progressive nephropathy, and gout occurring at an early age.
Most common symptoms of FAMILIAL JUVENILE HYPERURICEMIC NEPHROPATHY TYPE 1
- Hypertension
- Renal insufficiency
- Arthritis
- Abnormality of the kidney
- Stage 5 chronic kidney disease
More info about FAMILIAL JUVENILE HYPERURICEMIC NEPHROPATHY TYPE 1
GLOMERULOCYSTIC KIDNEY DISEASE WITH HYPERURICEMIA AND ISOSTHENURIA
Description
Glomerulocystic kidney disease is characterized by cystic dilatation of the Bowman space and the initial proximal convoluted tubule. Both sporadic and familial occurrences have been observed. Sharp et al. (1997) noted that GCKD had primarily been recognized in infants with a family history of classic, autosomal dominant polycystic kidney disease (PKD). However, dominantly transmitted GCKD associated with either hypoplastic or normal-sized kidneys has also been reported in older children and adults. Hypoplastic GCKD has been identified in some families with mutations in the TCF2 gene (OMIM ) as part of the clinical phenotype of renal cysts and diabetes syndrome (OMIM ).
Most common symptoms of GLOMERULOCYSTIC KIDNEY DISEASE WITH HYPERURICEMIA AND ISOSTHENURIA
- Renal insufficiency
- Dilatation
- Proteinuria
- Abnormality of the kidney
- Stage 5 chronic kidney disease
More info about GLOMERULOCYSTIC KIDNEY DISEASE WITH HYPERURICEMIA AND ISOSTHENURIA
UMOD-RELATED AUTOSOMAL DOMINANT TUBULOINTERSTITIAL KIDNEY DISEASE
Alternate names
UMOD-RELATED AUTOSOMAL DOMINANT TUBULOINTERSTITIAL KIDNEY DISEASE Is also known as autosomal dominant medullary cystic kidney disease type 2, mckd2, adtkd-umod, umod-related adtkd
More info about UMOD-RELATED AUTOSOMAL DOMINANT TUBULOINTERSTITIAL KIDNEY DISEASE
SOURCES: ORPHANET
Search interest in UMOD
Potential gene panels for UMOD gene
Hereditary Interstitial Kidney Disease Assay Panel
United States.
By Athena Diagnostics Inc
This panel specifically test the UMOD gene.
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.
ExomePLUS Cystic Disease & Dysplasia/Agenesis Panel
United States.
By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine ExomePLUS Cystic Disease & Dysplasia/Agenesis that also includes the following genes: BMP4 HNF1B TSC1 TSC2 UMOD WT1 INVS NPHP4 FRAS1 ANKS6
More info about this panel United States.
UMOD-Associated Kidney Disease Panel
Czech Republic.
By Clinic of Pediatrics and Adolescent Medicine General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague
This panel specifically test the UMOD gene.
More info about this panel Czech Republic.
Polycystic kidney and liver disease modifier panel Panel
United Kingdom.
By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust Polycystic kidney and liver disease modifier panel that also includes the following genes: HNF1B TSC1 TSC2 UMOD DNAJB11 SEC61B SEC61A1 SEC63 ALG8 DZIP1L
More info about this panel United Kingdom.
UMOD. Sequencing of the exons 3 and 4 Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the UMOD gene.
More info about this panel Spain.
UMOD. Sequencing of the exons 3, 4, 5 and 7 Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the UMOD gene.
More info about this panel Spain.
UMOD. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the UMOD gene.
More info about this panel Spain.
UMOD. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the UMOD gene.
More info about this panel Spain.
Medullary cystic kidney disease, AD (sequence analysis of UMOD gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the UMOD gene.
More info about this panel Portugal.
UMOD-Associated Kidney Disease Panel
Belgium.
By Centre de Genetique Humaine Institut de Pathologie et de Genetique
This panel specifically test the UMOD gene.
More info about this panel Belgium.
UMOD-Associated Kidney Disease Panel
Germany.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the UMOD gene.
More info about this panel Germany.
Medullary cystic kidney disease 2 Panel
Germany.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the UMOD gene.
More info about this panel Germany.
Medullary Cystic Kidney Disease type 2 and Familial Juvenile Hyperuricemic Nephropathy type 1 via UMOD Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the UMOD gene.
More info about this panel United States.
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel with CNV Detection that also includes the following genes: ROBO2 SALL1 BMP4 BMP7 SIX1 SIX2 SIX5 SOX11 TBX18 HNF1B
More info about this panel United States.
Hereditary Cystic Kidney Diseases Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Hereditary Cystic Kidney Diseases Sequencing Panel with CNV Detection that also includes the following genes: SDCCAG8 HNF1B TSC1 TSC2 UMOD VHL NEK8 DNAJB11 ZNF423 DICER1
More info about this panel United States.
Polycystic kidney disease and related disorders NGS panel Panel
United States.
By Connective Tissue Gene Tests Polycystic kidney disease and related disorders NGS panel that also includes the following genes: HNF1B TSC1 TSC2 UMOD ALG9 ZNF423 INVS SEC61A1 BICC1 OFD1
More info about this panel United States.
Polycystic kidney disease and related disorders Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Polycystic kidney disease and related disorders Deletion / Duplication panel that also includes the following genes: HNF1B TSC1 TSC2 UMOD ALG9 ZNF423 INVS SEC61A1 BICC1 OFD1
More info about this panel United States.
Polycystic kidney disease and related disorders Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Polycystic kidney disease and related disorders Comprehensive panel that also includes the following genes: HNF1B TSC1 TSC2 UMOD ALG9 ZNF423 INVS SEC61A1 BICC1 OFD1
More info about this panel United States.
Hyperuricemic nephropathy, familial juvenile Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Hyperuricemic nephropathy, familial juvenile Deletion / Duplication panel that also includes the following genes: UMOD SEC61A1 REN
More info about this panel United States.
Hyperuricemic nephropathy, familial juvenile Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Hyperuricemic nephropathy, familial juvenile Deletion / Duplication panel that also includes the following genes: UMOD SEC61A1 REN
More info about this panel United States.
Hyperuricemic nephropathy, familial juvenile NGS panel Panel
United States.
By Connective Tissue Gene Tests Hyperuricemic nephropathy, familial juvenile NGS panel that also includes the following genes: UMOD SEC61A1 REN
More info about this panel United States.
Medullary cystic kidney disease 2 Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen
This panel specifically test the UMOD gene.
More info about this panel Germany.
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.
Nephrology Endocrinology and Electrolytes - panels Panel
Germany.
By MGZ Medical Genetics Center Nephrology Endocrinology and Electrolytes - panels that also includes the following genes: ROBO2 SALL1 BLK BMP4 BMP7 SIX1 SIX2 SIX5 SLC12A1 SLC12A3
More info about this panel Germany.
Medullary cystic kidney disease 2 Panel
Germany.
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the UMOD gene.
More info about this panel Germany.
Medullary cystic kidney disease type 2 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the UMOD gene.
More info about this panel Germany.
Cystic Kidney Disease Panel Panel
Germany.
By CeGaT GmbH Cystic Kidney Disease Panel that also includes the following genes: SIX5 HNF1B UMOD BICC1 EYA1 MUC1 PAX2 PKD2 PKHD1
More info about this panel Germany.
Glomerulocystic kidney disease with hyperuricemia and isosthenuria Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the UMOD gene.
More info about this panel Austria.
Hyperuricemic nephropathy, familial juvenile 1 Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the UMOD gene.
More info about this panel Austria.
Medullary cystic kidney disease 2 Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the UMOD gene.
More info about this panel Austria.
Glomerulocystic kidney disease with hyperuricemia and isosthenuria Panel
Slovakia.
By MedGene
This panel specifically test the UMOD gene.
More info about this panel Slovakia.
Hyperuricemic nephropathy, familial juvenile 1 Panel
Slovakia.
By MedGene
This panel specifically test the UMOD gene.
More info about this panel Slovakia.
Medullary cystic kidney disease 2 Panel
Slovakia.
By MedGene
This panel specifically test the UMOD gene.
More info about this panel Slovakia.
Hyperuricemic nephropathy, Familial juvenile : UMOD gene screening (exons 3-7) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the UMOD gene.
More info about this panel Spain.
Medullary Cystic Kidney Disease 2: UMOD Full Gene Sequencing Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the UMOD gene.
More info about this panel United States.
Medullary Cystic Kidney Disease 2: UMOD Gene Deletion/Duplication Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the UMOD gene.
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.
UMOD Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the UMOD 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 Kidney Disease Panel Panel
Finland.
By Blueprint Genetics Cystic Kidney Disease Panel that also includes the following genes: SDCCAG8 SIX5 HNF1B TSC1 TSC2 UMOD VHL NEK8 ZNF423 INVS
More info about this panel Finland.
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.
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.
Familial juvenile hyperuricemic nephropathy type 1 Panel
Spain.
By Bioarray
This panel specifically test the UMOD gene.
More info about this panel Spain.
Medullary cystic kidney disease 2 Panel
Spain.
By Bioarray
This panel specifically test the UMOD gene.
More info about this panel Spain.
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.
HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE TYPE1 Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the UMOD gene.
More info about this panel Spain.
MEDULLARY CYSTIC KIDNEY DISEASE TYPE 2 (MCKD2) Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the UMOD gene.
More info about this panel Spain.
CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT (CAKUT) NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT (CAKUT) NGS PANEL that also includes the following genes: ROBO2 SALL1 BMP4 BMP7 SIX1 SIX2 SIX5 HNF1B UMOD UPK3A
More info about this panel Spain.
Autosomal Dominant Medullary Cystic Kidney Disease , Sequencing UMOD Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the UMOD gene.
More info about this panel Spain.
Familial Juvenile Hyperuricemic Nephropathy , Sequencing Exons (3-7) UMOD Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the UMOD gene.
More info about this panel Spain.
Familial Juvenile Hyperuricemic Nephropathy , Sequencing Rest Exons (2, 8-11) UMOD Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the UMOD gene.
More info about this panel Spain.
Medullary Cystic Kidney Disease with or without Hyperuricemia , Panel Massive Sequencing (NGS) MUC1, UMOD Genes Panel
Spain.
By Reference Laboratory Genetics Medullary Cystic Kidney Disease with or without Hyperuricemia , Panel Massive Sequencing (NGS) MUC1, UMOD Genes that also includes the following genes: UMOD MUC1
More info about this panel Spain.
Polycystic Kidney Disease Panel
Australia.
By Genome.One Polycystic Kidney Disease that also includes the following genes: HNF1B TSC1 TSC2 UMOD OFD1 GANAB PKD1 PKD2 PKHD1
More info about this panel Australia.
Medullary Cystic Kidney Disease 2: UMOD Gene Deletion/Duplication Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the UMOD gene.
More info about this panel Canada.
Medullary Cystic Kidney Disease 2: UMOD Gene Sequencing Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the UMOD gene.
More info about this panel Canada.
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