Renal Hypodysplasia/aplasia 3; Rhda3

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

RHDA3 is an autosomal dominant disorder characterized by abnormal kidney development beginning in utero. The phenotype is highly variable, even within families, and there is evidence for incomplete penetrance. Some affected individuals have bilateral renal agenesis, which is usually fatal in utero or in the perinatal period, whereas others may have unilateral agenesis that is compatible with life, or milder manifestations, such as vesicoureteral reflux (VUR). Female mutation carriers may also have uterine or ovarian abnormalities. Renal aplasia falls at the most severe end of the spectrum of congenital anomalies of the kidney and urinary tract (CAKUT; see {610805}) (summary by Brophy et al., 2017 and Sanna-Cherchi et al., 2017).For a discussion of genetic heterogeneity of renal hypodysplasia/aplasia, see RHDA1 (OMIM ).

Genes related to Renal Hypodysplasia/aplasia 3; Rhda3

GREB1L

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Renal Hypodysplasia/aplasia 3; Rhda3

Hydronephrosis
Abnormality of the kidney
Falls
Vesicoureteral reflux
Renal agenesis
Abnormality of the ribs
Renal dysplasia
Horseshoe kidney
Multicystic kidney dysplasia
Abnormality of the genitourinary system

And another 5 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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.

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 Hypodysplasia/aplasia 3; Rhda3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 Panel complete gene list ROBO2, SALL1, BMP4, BMP7, SIX1, SIX2, SIX5, SOX11, TBX18, HNF1B, UMOD, UPK3A, WNT4, TRAP1, SRGAP1, CDC5L, SOX17, HPSE2, GRIP1, CHD1L, FRAS1, FAT4, FREM1, FREM2, NIPBL, DSTYK, GREB1L, AGTR1, EYA1, FGF20, FGFR2, FOXP1, GATA3, GLI2, GLI3, HOXA13, HOXA4, HOXB6, ITGA8, LIFR, LRP4, MUC1, MYH9, PAX2, PBX1, REN, RET Specificity 3 % Genes 100 %
Renal Hypodysplasia/Aplasia Type 3 via GREB1L Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics (United States). GREB1L Specificity 100 % Genes 100 %
GREB1L. By Fulgent Genetics Fulgent Genetics (United States). GREB1L Specificity 100 % Genes 100 %

You can get up to -5 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MUCOLIPIDOSIS IV; ML4 HYPERTRIGLYCERIDEMIA, FAMILIAL CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A; CMT2A2A HOLOPROSENCEPHALY 4; HPE4 CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1 EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE RETINAL ARTERIES, TORTUOSITY OF; RATOR