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

SOURCES: OMIM ORPHANET

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


Potential gene panels for GREB1L gene

Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel with CNV Detection Panel

United States.

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 panel
United States.

Renal Hypodysplasia/Aplasia Type 3 via GREB1L Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the GREB1L gene.

More info about this panel
United States.

GREB1L Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the GREB1L gene.

More info about this panel
United States.

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