Congenital Anomalies Of Kidney And Urinary Tract 1; Cakut1

Description

Congenital anomalies of the kidney and urinary tract (CAKUT) comprise a broad spectrum of renal and urinary tract malformations. CAKUT structural anomalies range from complete renal agenesis (the most severe), to renal hypodysplasia, multicystic kidney dysplasia, duplex renal collecting system, ureteropelvic junction obstruction (UPJO), megaureter, posterior urethral valves (PUV), and vesicoureteral reflux (VUR). Renal abnormalities are observed in close relatives of up to 10% of CAKUT patients, although these are frequently asymptomatic. The phenotype often does not follow classic mendelian inheritance: family members with the same genetic defect may have variable phenotypes, ranging from severe renal insufficiency to asymptomatic anomalies. CAKUT occurs in about 1 in 500 live births, but are severe enough to cause neonatal death in about 1 in 2,000 births. In addition, CAKUT can occur in syndromic disorders in association with other congenital anomalies, such as papillorenal syndrome (OMIM ) (summary by Renkema et al., 2011). Genetic Heterogeneity of Congenital Anomalies of Kidney and Urinary TractAlso see CAKUT2 (OMIM ), caused by mutation in the TBX18 gene (OMIM ) on chromosome 6q14.

Clinical Features

Top most frequent phenotypes and symptoms related to Congenital Anomalies Of Kidney And Urinary Tract 1; Cakut1

  • Hearing impairment
  • Hypertension
  • Renal insufficiency
  • Hydronephrosis
  • Stage 5 chronic kidney disease
  • Vesicoureteral reflux
  • Renal agenesis
  • Oligohydramnios
  • Renal hypoplasia
  • Renal dysplasia

And another 6 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

Congenital Anomalies Of Kidney And Urinary Tract 1; Cakut1 Is also known as renal hypodysplasia, nonsyndromic, 1, rhdns1.

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.


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Congenital Anomalies Of Kidney And Urinary Tract 1; Cakut1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

ROBO2, SALL1, BMP4, BMP7, SIX1, SIX2, SIX5, SOX11, TBX18, HNF1B, UMOD, UPK3A, WNT4, TRAP1, SRGAP1, CDC5L, SOX17, HPSE2, GRIP1, CHD1L , (...)

View the complete list with 27 more genes
Specificity
3 %
Genes
100 %
Complex Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SACS, SLC16A2, KDM5C, SPG11, ATL1, SPAST, SPG7, TFG, UCHL1, USP8, VCP, ERLIN2, CAPN1, BSCL2, CCT5, PNPLA6, NIPA1, RAB3GAP2, BICD2, GJC2 , (...)

View the complete list with 50 more genes
Specificity
2 %
Genes
100 %
Hereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RTN2, SACS, SLC16A2, KDM5C, SPG11, ATL1, SPAST, SPG7, TFG, UCHL1, USP8, VCP, ERLIN2, CAPN1, BSCL2, CCT5, PNPLA6, ERLIN1, NIPA1, RAB3GAP2 , (...)

View the complete list with 60 more genes
Specificity
2 %
Genes
100 %
Congenital Anomalies of Kidney and Urinary Tract (CAKUT) via DSTYK Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

DSTYK
Specificity
100 %
Genes
100 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).

BCS1L, ROBO2, CNNM2, CFB, SALL1, ATXN10, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SDHA, SDHB, SDHC, SDHD, BMP4, BMP7, SGPL1, SIX1, SIX2, SIX5 , (...)

View the complete list with 386 more genes
Specificity
1 %
Genes
100 %
Nephrology Endocrinology and Electrolytes - panels.

By MGZ Medical Genetics Center (Germany).

ROBO2, SALL1, BLK, BMP4, BMP7, SIX1, SIX2, SIX5, SLC12A1, SLC12A3, SLC3A1, SLC7A9, SMARCAL1, HNF1A, HNF1B, KLF11, TRPC6, TSC1, TSC2, UMOD , (...)

View the complete list with 95 more genes
Specificity
1 %
Genes
100 %
Renal Dysplasia, Renal Agenesia, CAKUT Panel.

By CeGaT GmbH (Germany).

ROBO2, SDCCAG8, BMP4, SIX1, SIX5, SPRY1, TBX18, HNF1B, TFAP2A, UPK3A, WT1, ALDH1A2, TRAP1, SOX17, GRIP1, CHD1L, FRAS1, BICC1, FREM1, FREM2 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
DSTYK.

By Fulgent Genetics Fulgent Genetics (United States).

DSTYK
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM MESH Rare Disease Symptoms Checker

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