FAM20A gene related symptoms and diseases

All the information presented here about the FAM20A 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 FAM20A gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Gingival fibromatosis Very Common - Between 80% and 100% cases
Increased circulating osteocalcin level Very Common - Between 80% and 100% cases
Hypophosphaturia Very Common - Between 80% and 100% cases
Medullary nephrocalcinosis Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with FAM20A gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Yellow-brown discoloration of the teeth
  • Impaired renal concentrating ability
  • Pulp stones
  • Abnormality of calcium-phosphate metabolism
  • Enuresis nocturna
  • Abnormality of dental color
  • Hypocalciuria
  • Anterior open bite

And 17 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to FAM20A gene

Here you will find a list of rare diseases related to the FAM20A. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


ENAMEL-RENAL SYNDROME


Alternate names

ENAMEL-RENAL SYNDROME Is also known as enamel-renal-gingival syndrome, amelogenesis imperfecta and gingival fibromatosis syndrome, ers, amelogenesis imperfecta, hypoplastic, with nephrocalcinosis, enamel-renal syndrome, amelogenesis imperfecta-nephrocalcinosis syndrome, aigfs

Description

Amelogenesis imperfecta-nephrocalcinosis, also called enamel-renal syndrome, is an extremely rare syndrome which is characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function (e.g. recurrent urinary infections and renal tubular acidosis), and rarely to end-stage renal failure.

Most common symptoms of ENAMEL-RENAL SYNDROME

  • Intellectual disability
  • Abnormality of the dentition
  • Renal insufficiency
  • Nephropathy
  • Delayed eruption of teeth


More info about ENAMEL-RENAL SYNDROME

SOURCES: ORPHANET OMIM MESH


Potential gene panels for FAM20A gene

ExomePLUS Electrolyte & Kidney Stone Panel

United States.

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine ExomePLUS Electrolyte & Kidney Stone that also includes the following genes: SCNN1A SCNN1B SLC12A1 SLC12A3 SLC2A2 VDR WNK4 CASR BSND CDC73

More info about this panel

Amelogenesis Imperfecta with Gingival Hyperplasia Syndrome and Amelogenesis Imperfecta with Renal Syndrome via FAM20A Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the FAM20A gene.

More info about this panel

Amelogenesis Imperfecta Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Amelogenesis Imperfecta Sequencing Panel with CNV Detection that also includes the following genes: CNNM4 SLC24A4 SMOC2 FAM20A FAM83H ODAPH WDR72 DLX3 ROGDI ENAM

More info about this panel

Nephrolithiasis and Nephrocalcinosis Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Nephrolithiasis and Nephrocalcinosis Sequencing Panel with CNV Detection that also includes the following genes: SLC12A1 SLC26A1 SLC34A1 SLC3A1 SLC7A9 SLC9A3R1 VDR XDH SLC2A9 CA2

More info about this panel

Amelogenesis imperfecta and related disorders Deletion/ Duplication panel Panel

United States.

By Connective Tissue Gene Tests Amelogenesis imperfecta and related disorders Deletion/ Duplication panel that also includes the following genes: SLC24A4 SMOC2 FAM20A FAM83H ODAPH WDR72 DLX3 DSPP ENAM GPR68

More info about this panel

Amelogenesis imperfecta and related disorders Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Amelogenesis imperfecta and related disorders Comprehensive panel that also includes the following genes: SLC24A4 SMOC2 FAM20A FAM83H ODAPH WDR72 DLX3 DSPP ENAM GPR68

More info about this panel

Amelogenesis imperfecta and related disorders NGS panel Panel

United States.

By Connective Tissue Gene Tests Amelogenesis imperfecta and related disorders NGS panel that also includes the following genes: SLC24A4 SMOC2 FAM20A FAM83H ODAPH WDR72 DLX3 DSPP ENAM GPR68

More info about this panel

Nephrolithiasis and related disorders NGS panel Panel

United States.

By Connective Tissue Gene Tests Nephrolithiasis and related disorders NGS panel that also includes the following genes: SLC12A1 SLC26A1 SLC34A1 SLC3A1 SLC7A9 SLC9A3R1 XDH SLC2A9 CA2 CASR

More info about this panel

Nephrolithiasis and related disorders Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Nephrolithiasis and related disorders Comprehensive panel that also includes the following genes: SLC12A1 SLC26A1 SLC34A1 SLC3A1 SLC7A9 SLC9A3R1 XDH SLC2A9 CA2 CASR

More info about this panel

Nephrolithiasis and related disorders Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Nephrolithiasis and related disorders Deletion / Duplication panel that also includes the following genes: SLC12A1 SLC26A1 SLC34A1 SLC3A1 SLC7A9 SLC9A3R1 XDH SLC2A9 CA2 CASR

More info about this panel

Amelogenesis imperfecta panel Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht Amelogenesis imperfecta panel that also includes the following genes: FAM20A FAM83H ODAPH WDR72 DLX3 ENAM AMELX KLK4

More info about this panel

Amelogenesis imperfecta type 1G Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the FAM20A gene.

More info about this panel

Amelogenesis Imperfecta NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Amelogenesis Imperfecta NGS Panel that also includes the following genes: BMP1 SERPINH1 IFITM5 SP7 FKBP10 P3H1 COL1A2 FAM20A CRTAP FAM83H

More info about this panel

FAM20A Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the FAM20A gene.

More info about this panel

Comprehensive Skeletal Dysplasias and Disorders Panel Panel

Finland.

By Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders Panel that also includes the following genes: RMRP ROR2 BGN RUNX2 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 SHOX

More info about this panel

Nephrolithiasis Panel Panel

Finland.

By Blueprint Genetics Nephrolithiasis Panel that also includes the following genes: SLC12A1 SLC26A1 SLC34A1 SLC3A1 SLC7A9 SLC9A3R1 VDR XDH SLC2A9 CA2

More info about this panel

Amelogenesis Imperfecta and Dentinogenesis Imperfecta Panel Panel

Finland.

By Blueprint Genetics Amelogenesis Imperfecta and Dentinogenesis Imperfecta Panel that also includes the following genes: SLC24A4 FAM20A FAM83H ODAPH WDR72 DLX3 DSPP ENAM GPR68 AMELX

More info about this panel

Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel

Finland.

By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D

More info about this panel

Amelogenesis Imperfecta , Panel Massive Sequencing (NGS) 9 Genes Panel

Spain.

By Reference Laboratory Genetics Amelogenesis Imperfecta , Panel Massive Sequencing (NGS) 9 Genes that also includes the following genes: FAM20A FAM83H WDR72 DLX3 ENAM AMELX KLK4 LAMB3 MMP20

More info about this panel


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