Renal Tubular Dysgenesis; Rtd

Description

Autosomal recessive renal tubular dysgenesis is a severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios (the Potter phenotype) (Gribouval et al., 2005). Absence or paucity of differentiated proximal tubules is the histopathologic hallmark of the disorder and may be associated with skull ossification defects.

Clinical Features

Top most frequent phenotypes and symptoms related to Renal Tubular Dysgenesis; Rtd

  • Intellectual disability
  • Microcephaly
  • Hypertelorism
  • Ventricular septal defect
  • Respiratory insufficiency
  • Renal insufficiency
  • Clinodactyly
  • Respiratory failure
  • Polyhydramnios
  • Abnormality of the pinna

And another 34 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

Renal Tubular Dysgenesis; Rtd Is also known as primitive renal tubule syndrome.

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.

Renal Tubular Dysgenesis; Rtd Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Renal tubular dysgenesis.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders (Germany).

AGTR1, REN
Specificity
100 %
Genes
100 %
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
5 %
Genes
100 %
Autosomal Recessive Renal Tubular Dysgenesis (RTD) via AGTR1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

AGTR1
Specificity
100 %
Genes
50 %
Autosomal Recessive Renal Tubular Dysgenesis (RTD) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

AGTR1, REN
Specificity
100 %
Genes
100 %
Renal tubular dysgenesis Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

AGTR1, REN
Specificity
100 %
Genes
100 %
Renal tubular dysgenesis Comprehensive panel.

By Connective Tissue Gene Tests (United States).

AGTR1, REN
Specificity
100 %
Genes
100 %
Renal tubular dysgenesis NGS panel.

By Connective Tissue Gene Tests (United States).

AGTR1, REN
Specificity
100 %
Genes
100 %
Renal tubular dysgenesis, AGTR1-related.

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

AGTR1
Specificity
100 %
Genes
50 %

You can get up to 36 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Symptoms Checker

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