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.

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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

SOURCES: OMIM ORPHANET

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


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

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

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

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

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

Renal hypodysplasia/aplasia Panel

India.

By GeneTech ATS GeneTech Private Limited

This panel specifically test the FGF20 gene.

More info about this panel

Renal Hypodysplasia /Aplasia Panel

India.

By GeneTech ATS GeneTech Private Limited

This panel specifically test the FGF20 gene.

More info about this panel

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

FGF20 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the FGF20 gene.

More info about this panel

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

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

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


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