GREB1L gene related symptoms and diseases
All the information presented here about the GREB1L gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to GREB1L gene
Symptoms // Phenotype | % Cases |
---|---|
Multicystic kidney dysplasia | Common - Between 50% and 80% cases |
Bilateral renal agenesis | Common - Between 50% and 80% cases |
Falls | Common - Between 50% and 80% cases |
Renal agenesis | Common - Between 50% and 80% cases |
Renal dysplasia | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with GREB1L gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Abnormality of the kidney
- Bilateral renal dysplasia
- Abnormality of the genitourinary system
- Unilateral renal agenesis
Not very common - Between 30% and 50% cases
- Non-midline cleft lip
- Tracheoesophageal fistula
- Hydronephrosis
- Polycystic kidney dysplasia
And 35 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to GREB1L gene
Here you will find a list of rare diseases related to the GREB1L. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
RENAL HYPODYSPLASIA/APLASIA 3; RHDA3
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 ).
Most common symptoms of RENAL HYPODYSPLASIA/APLASIA 3; RHDA3
- Hydronephrosis
- Abnormality of the kidney
- Falls
- Vesicoureteral reflux
- Renal agenesis
More info about RENAL HYPODYSPLASIA/APLASIA 3; RHDA3
SOURCES: OMIM
RENAL AGENESIS, BILATERAL
Alternate names
RENAL AGENESIS, BILATERAL Is also known as renal aplasia, renal adysplasia, hereditary renal aplasia, renal agenesis, hra
Description
Bilateral renal agenesis is the most profound form of renal agenesis (see this term), characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth.
Most common symptoms of RENAL AGENESIS, BILATERAL
- Hypertelorism
- Abnormal facial shape
- Cleft palate
- Cryptorchidism
- Low-set ears
More info about RENAL AGENESIS, BILATERAL
RENAL AGENESIS, UNILATERAL
Description
Unilateral renal agenesis (URA) is a form of renal agenesis (see this term) characterized by the complete absence of development of one kidney accompanied by an absent ureter.
More info about RENAL AGENESIS, UNILATERAL
SOURCES: ORPHANET
Search interest in GREB1L
Potential gene panels for GREB1L gene
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel with CNV Detection that also includes the following genes: ROBO2 SALL1 BMP4 BMP7 SIX1 SIX2 SIX5 SOX11 TBX18 HNF1B
More info about this panelRenal Hypodysplasia/Aplasia Type 3 via GREB1L Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the GREB1L gene.
More info about this panelGREB1L Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the GREB1L gene.
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like CD28 ATP7B NPHS1 CNTN1 STX1B SKIV2L UVSSA