Congenital Anomalies Of Kidney And Urinary Tract 2; Cakut2

Description

Congenital anomalies of the kidneys and urinary tract (CAKUT) encompasses a spectrum of developmental disorders of the urinary tract that can range from mild vesicoureteral reflux to severe renal agenesis. Other phenotypes include renal duplication, small kidneys, ureteropelvic junction obstruction, hydronephrosis, and renal dysplasia. These abnormalities can result in kidney damage, and possibly renal failure (summary by Vivante et al., 2015).

Clinical Features

Top most frequent phenotypes and symptoms related to Congenital Anomalies Of Kidney And Urinary Tract 2; Cakut2

  • Pain
  • Renal insufficiency
  • Coma
  • Polyhydramnios
  • Abnormality of the genital system
  • Hydronephrosis
  • Nephrotic syndrome
  • Abnormality of the kidney
  • Vesicoureteral reflux
  • Hematuria
And another 17 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Congenital Anomalies Of Kidney And Urinary Tract 2; Cakut2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Bilateral multicystic renal dysplasia (sequence analysis of TBX18 gene).

By CGC Genetics in Portugal.

TBX18
Specificity
100 %
Genes
100 %
Bilateral multicystic renal dysplasia (sequence analysis of TBX18 gene).

By CGC Genetics in Portugal.

TBX18
Specificity
100 %
Genes
100 %
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

EYA1, HNF1B, RET, PAX2, FGFR2, NIPBL, UMOD, SALL1, SIX5, SIX1, GATA3, MYH9, FOXP1, FAT4, GLI2, GLI3, SOX11, ACE, FREM1, BMP4 , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
100 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

VHL, ACAT1, ARG1, ATP7B, AUH, BCS1L, INVS, HNF1A, MMACHC, EYA1, LRP5, SLC34A1, WT1, PAX6, SDHAF2, HNF1B, RET, INPP5E, CPS1, GLB1 , (...)

View the complete list with 391 more genes
Specificity
1 %
Genes
100 %
Renal Dysplasia, Renal Agenesia, CAKUT Panel.

By CeGaT GmbH in Germany.

EYA1, WT1, HNF1B, RET, FOXC1, NPHP3, PAX2, GATA2, SIX5, SIX1, GATA3, TFAP2A, SDCCAG8, FREM1, BMP4, GRIP1, FREM2, FRAS1, GDNF, SOX17 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
TBX18.

By Fulgent Genetics Fulgent Genetics in United States.

TBX18
Specificity
100 %
Genes
100 %
KidneySeq - 264 Genes.

By Iowa Institute of Human Genetics University of Iowa in United States.

TTR, VHL, ATP7B, INVS, EYA1, SLC34A1, WT1, HNF1B, RET, INPP5E, CC2D2A, OCRL, JAG1, HPRT1, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290 , (...)

View the complete list with 232 more genes
Specificity
1 %
Genes
100 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
100 %

Alternate names

Congenital Anomalies Of Kidney And Urinary Tract 2; Cakut2 Is also known as ureteropelvic junction obstruction;upjo, pelviureteric junction obstruction;pujo, hydronephrosis due to pujo, multicystic renal dysplasia, bilateral;mcrd;.



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