FGF20 gene related symptoms and diseases
All the information presented here about the FGF20 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 FGF20 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Unilateral renal agenesis | Very Common - Between 80% and 100% cases |
| Falls | Very Common - Between 80% and 100% cases |
| Renal dysplasia | Very Common - Between 80% and 100% cases |
| Renal agenesis | Very Common - Between 80% and 100% cases |
| Pulmonary hypoplasia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with FGF20 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Bilateral renal agenesis
- Potter facies
Not very common - Between 30% and 50% cases
- Bilateral renal dysplasia
- Tracheoesophageal fistula
- Fetal polyuria
- Non-midline cleft lip
- Breech presentation
- Bicornuate uterus
And 30 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to FGF20 gene
Here you will find a list of rare diseases related to the FGF20. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
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 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 ).
Most common symptoms of RENAL HYPODYSPLASIA/APLASIA 2; RHDA2
- Falls
- Pulmonary hypoplasia
- Renal agenesis
- Renal dysplasia
- Redundant skin
More info about RENAL HYPODYSPLASIA/APLASIA 2; RHDA2
SOURCES: OMIM
Search interest in FGF20
Potential gene panels for FGF20 gene
Renal aplasia 2 (sequence analysis of FGF20 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the FGF20 gene.
More info about this panel Portugal.
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.
Congenital Anomalies of Kidney and Urinary Tract (CAKUT) via FGF20 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the FGF20 gene.
More info about this panel United States.
Hereditary kidney disorders - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8
More info about this panel Germany.
Nephrology Endocrinology and Electrolytes - panels Panel
Germany.
By MGZ Medical Genetics Center Nephrology Endocrinology and Electrolytes - panels that also includes the following genes: ROBO2 SALL1 BLK BMP4 BMP7 SIX1 SIX2 SIX5 SLC12A1 SLC12A3
More info about this panel Germany.
Renal hypodysplasia/aplasia Panel
India.
By GeneTech ATS GeneTech Private Limited
This panel specifically test the FGF20 gene.
More info about this panel India.
Renal Hypodysplasia /Aplasia Panel
India.
By GeneTech ATS GeneTech Private Limited
This panel specifically test the FGF20 gene.
More info about this panel India.
Renal Dysplasia, Renal Agenesia, CAKUT Panel Panel
Germany.
By CeGaT GmbH Renal Dysplasia, Renal Agenesia, CAKUT Panel that also includes the following genes: ROBO2 SDCCAG8 BMP4 SIX1 SIX5 SPRY1 TBX18 HNF1B TFAP2A UPK3A
More info about this panel Germany.
FGF20 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the FGF20 gene.
More info about this panel United States.
KidneySeq - 264 Genes Panel
United States.
By Iowa Institute of Human Genetics University of Iowa KidneySeq - 264 Genes that also includes the following genes: ROBO2 CNNM2 SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 BMP4 SEMA3E
More info about this panel United States.
CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT (CAKUT) NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT (CAKUT) NGS PANEL that also includes the following genes: ROBO2 SALL1 BMP4 BMP7 SIX1 SIX2 SIX5 HNF1B UMOD UPK3A
More info about this panel Spain.
Tempus xO assay Panel
United States.
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panel United States.
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