Renal Hypodysplasia/aplasia 2; Rhda2

Description

Renal hypodysplasia/aplasia belongs to a group of perinatally lethal renal diseases, including bilateral renal aplasia, unilateral renal agenesis with contralateral dysplasia (URA/RD), and severe obstructive uropathy. Renal aplasia falls at the most severe end of the spectrum of congenital anomalies of the kidney and urinary tract (CAKUT ), and usually results in death in utero or in the perinatal period. Families have been documented in which bilateral renal agenesis or aplasia coexists with unilateral renal aplasia, renal dysplasia, or renal aplasia with renal dysplasia, suggesting that these conditions may belong to a pathogenic continuum or phenotypic spectrum (summary by Joss et al., 2003; Humbert et al., 2014).For a discussion of genetic heterogeneity of renal hypodysplasia/aplasia, see RHDA1 (OMIM ).

Clinical Features

Phenotypes and symptoms related to Renal Hypodysplasia/aplasia 2; Rhda2

  • Falls
  • Pulmonary hypoplasia
  • Renal agenesis
  • Renal dysplasia
  • Redundant skin
  • Unilateral renal agenesis
  • Bilateral renal agenesis
  • Potter facies

Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

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.


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Renal Hypodysplasia/aplasia 2; Rhda2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Renal aplasia 2 (sequence analysis of FGF20 gene).

By CGC Genetics (Portugal).

FGF20
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
3 %
Genes
100 %
Congenital Anomalies of Kidney and Urinary Tract (CAKUT) via FGF20 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

FGF20
Specificity
100 %
Genes
100 %
Hereditary kidney disorders - different panels.

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

BCS1L, ROBO2, CNNM2, CFB, SALL1, ATXN10, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SDHA, SDHB, SDHC, SDHD, BMP4, BMP7, SGPL1, SIX1, SIX2, SIX5 , (...)

View the complete list with 386 more genes
Specificity
1 %
Genes
100 %
Nephrology Endocrinology and Electrolytes - panels.

By MGZ Medical Genetics Center (Germany).

ROBO2, SALL1, BLK, BMP4, BMP7, SIX1, SIX2, SIX5, SLC12A1, SLC12A3, SLC3A1, SLC7A9, SMARCAL1, HNF1A, HNF1B, KLF11, TRPC6, TSC1, TSC2, UMOD , (...)

View the complete list with 95 more genes
Specificity
1 %
Genes
100 %
Renal hypodysplasia/aplasia.

By GeneTech ATS GeneTech Private Limited (India).

FGF20
Specificity
100 %
Genes
100 %
Renal Hypodysplasia /Aplasia.

By GeneTech ATS GeneTech Private Limited (India).

FGF20
Specificity
100 %
Genes
100 %
Renal Dysplasia, Renal Agenesia, CAKUT Panel.

By CeGaT GmbH (Germany).

ROBO2, SDCCAG8, BMP4, SIX1, SIX5, SPRY1, TBX18, HNF1B, TFAP2A, UPK3A, WT1, ALDH1A2, TRAP1, SOX17, GRIP1, CHD1L, FRAS1, BICC1, FREM1, FREM2 , (...)

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

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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