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Condition report · Urological

Renal Tubular Dysgenesis

A rare, severe recessive condition in which the kidney tubules do not develop properly before birth. Its main relevance to adults is carrier status for family planning.

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

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The condition we analyse

Autosomal recessive

A recessive disorder of the renin-angiotensin system caused by variants in REN, AGT, ACE or AGTR1, leading to absent urine production before birth and usually fatal in the newborn period.

What a diagnosis changes

Carrier status can inform reproductive planning for couples.

Genes analysed

Also known as

primitive renal tubule syndrome; renotubular dysgenesis

Includes 4 related subtypes ↓
  • drug-related renal tubular dysgenesis
  • renal tubular dysgenesis - ACE
  • renal tubular dysgenesis due to twin-twin transfusion
  • renal tubular dysgenesis of genetic origin
MONDO:0017609Orphanet 3033MedGen 82738

Other urological conditions

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