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 ).
Genes related to Glomerulocystic Kidney Disease With Hyperuricemia And Isosthenuria
- UMOD
Clinical Features
Phenotypes and symptoms related to Glomerulocystic Kidney Disease With Hyperuricemia And Isosthenuria
- Renal insufficiency
- Dilatation
- Proteinuria
- Abnormality of the kidney
- Stage 5 chronic kidney disease
- Renal cyst
- Polycystic kidney dysplasia
- Hyperuricemia
- Abnormality of the renal tubule
- Multiple glomerular cysts
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.
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.Glomerulocystic Kidney Disease With Hyperuricemia And Isosthenuria Recommended genes panels
| Panel Name, Specifity and genes Tested/covered |
|---|
 Hereditary Interstitial Kidney Disease Assay.
By Athena Diagnostics Inc (United States).
UMOD
Specificity
100 %
Genes
100 % |
|
Renal Cystic Disorders Sequencing Panel.
By Genetic Services Laboratory University of Chicago (United States).
SALL1, SDCCAG8, HNF1B, TFAP2A, TSC1, TSC2, CEP41, UMOD, VHL, ARL6, NEK8, TMEM237, TRIM32, CDC73, INVS, CEP83, DCDC2, WDR19, CRB2, BBS7 , (...)
View the complete list with 55 more genes
Specificity
2 %
Genes
100 % |
|
ExomePLUS Cystic Disease & Dysplasia/Agenesis.
By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine (United States).
BMP4, HNF1B, TSC1, TSC2, UMOD, WT1, INVS, NPHP4, FRAS1, ANKS6, IQCB1, CEP290, EYA1, GATA3, MUC1, NPHP1, NPHP3, PAX2, PKD2, PKHD1 , (...)
View the complete list with 1 more genes
Specificity
5 %
Genes
100 % |
 UMOD-Associated Kidney Disease.
By Clinic of Pediatrics and Adolescent Medicine General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague (Czech Republic).
UMOD
Specificity
100 %
Genes
100 % |
 Polycystic kidney and liver disease modifier panel.
By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust (United Kingdom).
HNF1B, TSC1, TSC2, UMOD, DNAJB11, SEC61B, SEC61A1, SEC63, ALG8, DZIP1L, GANAB, LRP5, PKD1, PKD2, PKHD1, PRKCSH, REN
Specificity
6 %
Genes
100 % |
 UMOD. Sequencing of the exons 3 and 4.
By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).
UMOD
Specificity
100 %
Genes
100 % |
|
UMOD. Sequencing of the exons 3, 4, 5 and 7.
By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).
UMOD
Specificity
100 %
Genes
100 % |
|
UMOD. Complete sequencing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).
UMOD
Specificity
100 %
Genes
100 % |
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Learn moreSources and references
You can check the following sources for additional information.
MESH OMIM Genetic Syndrome FinderIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like NOVELTY SEEKING PERSONALITY TRAIT MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3; MMDS3 D-BIFUNCTIONAL PROTEIN DEFICIENCY DYSTONIA 16; DYT16 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 23; SCAR23