Medullary Cystic Kidney Disease 2; Mckd2

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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 ).

Genes related to Medullary Cystic Kidney Disease 2; Mckd2

UMOD

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Clinical Features

Top most frequent phenotypes and symptoms related to Medullary Cystic Kidney Disease 2; Mckd2

Renal insufficiency
Arthritis
Abnormality of the kidney
Stage 5 chronic kidney disease
Nephropathy
Renal cyst
Nephritis
Nephronophthisis
Hyperuricemia
Gout

And another 4 symptoms. If you need more information about this disease we can help you.

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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.

Alternative names

Medullary Cystic Kidney Disease 2; Mckd2 Is also known as admckd2, medullary cystic kidney disease 2, autosomal dominant.

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.

Medullary Cystic Kidney Disease 2; Mckd2 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 Panel complete gene list SALL1, SDCCAG8, HNF1B, TFAP2A, TSC1, TSC2, CEP41, UMOD, VHL, ARL6, NEK8, TMEM237, TRIM32, CDC73, INVS, CEP83, DCDC2, WDR19, CRB2, BBS7, NPHP4, KIF14, KIAA0586, TTC8, INPP5E, AHI1, B9D1, BMPER, TCTN3, CEP104, TMEM216, ARL13B, TTC21B, OFD1, TCTN2, CPLANE1, TCTN1, CSPP1, BBS10, BBS12, ANKS6, TMEM138, WDPCP, XPNPEP3, TMEM107, TMEM67, GLIS3, B9D2, IQCB1, CEP290, KIAA0556, IFT140, RPGRIP1L, CEP164, CC2D2A, GLIS2, BBS9, IFT172, KIF7, TMEM231, JAG1, MKKS, MKS1, MUC1, NOTCH2, NPHP1, NPHP3, PDE6D, PKD2, PKHD1, BBS1, BBS2, BBS4, BBS5, REN 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 Panel complete gene list BMP4, HNF1B, TSC1, TSC2, UMOD, WT1, INVS, NPHP4, FRAS1, ANKS6, IQCB1, CEP290, EYA1, GATA3, MUC1, NPHP1, NPHP3, PAX2, PKD2, PKHD1, REN 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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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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