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Condition report · Urological

CAKUT (Kidney and Urinary Tract Anomalies)

Differences in how the kidneys and urinary tract form before birth, ranging from small or absent kidneys to urine reflux. They are the leading cause of chronic kidney disease in children, and some have a genetic cause.

A condition report looks for rare variants known to cause the conditions it covers.

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The 8 conditions we analyse

Congenital Anomaly of Kidney and Urinary Tract

A broad group of developmental kidney and urinary tract malformations; genetic causes include variants in PAX2, HNF1B, GREB1L and other genes, often with variable penetrance.

What a diagnosis changes

Knowing can prompt kidney imaging and function checks in the person and relatives.

Genes analysed

Also known as

CAKUT; congenital anomalies of kidney and urinary tract; renal or urinary tract malformation

Includes 3 related subtypes ↓
  • congenital anomalies of kidney and urinary tract 1
  • congenital anomalies of kidney and urinary tract 2
  • congenital anomalies of kidney and urinary tract 3
MONDO:0019719Orphanet 93545MedGen 369894

Vesicoureteral Reflux

Backward flow of urine from the bladder towards the kidneys, which can run in families and increases the risk of kidney infection and scarring.

What a diagnosis changes

Knowing can prompt earlier evaluation of urinary infections in the person and their children.

Genes analysed

Also known as

vesicoureteral reflux (disease)

Includes 10 related subtypes ↓
  • familial vesicoureteral reflux
  • vesicoureteral reflux 1
  • vesicoureteral reflux 2
  • vesicoureteral reflux 3
  • vesicoureteral reflux 4
  • vesicoureteral reflux 5
  • vesicoureteral reflux 6
  • vesicoureteral reflux 7
  • vesicoureteral reflux 8
  • vesicoureteral reflux, X-linked
MONDO:0006007MedGen 21852

Renal Hypodysplasia/Aplasia 1

Autosomal recessive

Small, malformed or absent kidneys linked to ITGA8 variants.

Genes analysed

Also known as

renal dysplasia, megalocystis, and sirenomelia; RHDA1; Selig Benacerraf Greene syndrome

MONDO:0024519OMIM 191830MedGen 301437

Renal Hypodysplasia/Aplasia 2

Autosomal recessive

Small, malformed or absent kidneys linked to FGF20 variants.

Also known as

FGF20 renal agenesis (disease); renal agenesis (disease) caused by mutation in FGF20; renal hypodysplasia/aplasia type 2; RHDA2

MONDO:0014319OMIM 615721MedGen 816689

Renal Coloboma Syndrome

Autosomal dominant

A PAX2-related condition combining kidney malformation with defects of the optic nerve.

What a diagnosis changes

Knowing prompts eye examination and kidney function monitoring.

Genes analysed

Also known as

CAKUT with or without ocular abnormalities; coloboma of optic nerve with renal disease; congenital anomalies of the kidney and urinary tract with or without ocular abnormalities; Papillo-renal syndrome; PAPILLORENAL syndrome; PAPRS; renal-coloboma syndrome with macular abnormalities

MONDO:0007352OMIM 120330Orphanet 1475MedGen 339002

Branchio-Oto-Renal Syndrome

Autosomal dominant

A condition caused by EYA1 or SIX1 variants affecting the neck, ears and hearing, and kidneys.

What a diagnosis changes

Knowing prompts hearing assessment and kidney imaging.

Genes analysed

Also known as

branchiootorenal syndrome; Melnick-Fraser syndrome

Includes 2 related subtypes ↓
  • branchiootorenal syndrome 1
  • branchiootorenal syndrome 2
MONDO:0007029Orphanet 107MedGen 82693

Limitations

  • A substantial share of genetic causes are larger deletions or duplications, such as the 17q12 deletion that removes HNF1B. These are detected by copy-number analysis rather than standard variant calling, so sensitivity for them may be lower than for small variants. Many gene links have variable or incomplete penetrance.

Other urological conditions

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