Kidney agenesis / dysgenesis

Synonyms: -

Material:

EDTA blood
(1 ml)

TAT:

Basic diagnostics: 3-6 weeks, extended diagnostics: on request

Method:

NGS, CNV

Overview

Renal agenesis, in which the kidneys are completely or partially absent, and renal hypoplasia, in which the kidneys are underdeveloped, are rare disorders. Bilateral renal agenesis, characterised by absence of both kidneys, occurs with a frequency of approximately 1 in 10,000 births and is usually incompatible with life. Unilateral renal agenesis is often discovered incidentally, as it may be clinically inconspicuous. The distinction between renal hypoplasia, with a reduced number of nephrons, and renal dysplasia, with disorganised renal tissue, is usually made histologically. A possible cause includes pathogenic variants in various genes that play an important role in nephrogenesis.

Kidney agenesis / dysgenesis

28 Gene(s)*

ANOS1

BICC1

BMP4

CDC5L

CEP55

DHCR7

DSTYK

FAT4

FGF20

FRAS1

FREM1

FREM2

GATA3

GREM1

HNF1B

ITGA8

NEK8

NRIP1

PAX2

PBX1

RET

ROBO1

SALL1

SIX2

TBX18

UPK3A

WBP11

WNT4

Clinical description

Frequency

Causes

Diagnosis

Differential diagnosis

Created by

Our editorial team consists of medical specialists and scientists in the field of human genetics. All content is created and reviewed in accordance with current scientific standards.

Last Update : 28.09.2026

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