FAM20C gene related symptoms and diseases
All the information presented here about the FAM20C gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to FAM20C gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Global developmental delay | Very Common - Between 80% and 100% cases |
| Large fontanelles | Very Common - Between 80% and 100% cases |
| Sleep apnea | Very Common - Between 80% and 100% cases |
| Plagiocephaly | Very Common - Between 80% and 100% cases |
| Narrow palate | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with FAM20C gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Increased bone mineral density
- Wide anterior fontanel
- Gingival overgrowth
- Hypoplasia of dental enamel
- Bowing of the long bones
- Elevated alkaline phosphatase
- Choanal atresia
- Depressed nasal ridge
And 72 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to FAM20C gene
Here you will find a list of rare diseases related to the FAM20C. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
LETHAL OSTEOSCLEROTIC BONE DYSPLASIA
Alternate names
LETHAL OSTEOSCLEROTIC BONE DYSPLASIA Is also known as raine syndrome, osteosclerotic bone dysplasia, lethal
Description
Lethal osteosclerotic bone dysplasia is defined by generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course.
Most common symptoms of LETHAL OSTEOSCLEROTIC BONE DYSPLASIA
- Global developmental delay
- Short stature
- Hearing impairment
- Microcephaly
- Hypertelorism
More info about LETHAL OSTEOSCLEROTIC BONE DYSPLASIA
Search interest in FAM20C
Potential gene panels for FAM20C gene
MitoMet®Plus aCGH Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65
More info about this panel United States.
FAM20C Comprehensive - Sequence & Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the FAM20C gene.
More info about this panel United States.
FAM20C Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the FAM20C gene.
More info about this panel United States.
FAM20C Sequence Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the FAM20C gene.
More info about this panel United States.
FAM20C Sequence Analysis (Prenatal Diagnosis) Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the FAM20C gene.
More info about this panel United States.
Craniofacial Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Craniofacial Sequencing Panel that also includes the following genes: RUNX2 SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 ALX1
More info about this panel United States.
Craniofacial Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Craniofacial Deletion/Duplication Panel that also includes the following genes: RUNX2 SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 ALX1
More info about this panel United States.
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 United States.
Raine-Syndrome Panel
Germany.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the FAM20C gene.
More info about this panel Germany.
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection that also includes the following genes: RMRP ROR2 RUNX2 SALL1 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 FBXW4
More info about this panel United States.
Osteopetrosis and Dense bone dysplasia Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Osteopetrosis and Dense bone dysplasia Deletion / Duplication panel that also includes the following genes: SLCO2A1 TBXAS1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 TYROBP CA2 SOST
More info about this panel United States.
Osteopetrosis Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Osteopetrosis Deletion / Duplication panel that also includes the following genes: TCIRG1 TNFRSF11A TNFSF11 CA2 SNX10 CLCN7 OSTM1 FAM20C FERMT3 CTSK
More info about this panel United States.
Osteopetrosis and Dense bone dysplasia NGS panel Panel
United States.
By Connective Tissue Gene Tests Osteopetrosis and Dense bone dysplasia NGS panel that also includes the following genes: SLCO2A1 TBXAS1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 TYROBP CA2 SOST
More info about this panel United States.
Osteopetrosis Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Osteopetrosis Comprehensive panel that also includes the following genes: TCIRG1 TNFRSF11A TNFSF11 CA2 SNX10 CLCN7 OSTM1 FAM20C FERMT3 CTSK
More info about this panel United States.
Osteopetrosis and Dense bone dysplasia Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Osteopetrosis and Dense bone dysplasia Comprehensive panel that also includes the following genes: SLCO2A1 TBXAS1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 TYROBP CA2 SOST
More info about this panel United States.
Osteopetrosis NGS panel Panel
United States.
By Connective Tissue Gene Tests Osteopetrosis NGS panel that also includes the following genes: TCIRG1 TNFRSF11A TNFSF11 CA2 SNX10 CLCN7 OSTM1 FAM20C FERMT3 CTSK
More info about this panel United States.
Raine syndrome Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the FAM20C gene.
More info about this panel Germany.
Potentially lethal skeletal disorders Panel Panel
Germany.
By CeGaT GmbH Potentially lethal skeletal disorders Panel that also includes the following genes: SLC26A2 SOX9 TRIP11 WNT7A NSDHL TRPV4 P3H1 CANT1 SLC35D1 COL11A1
More info about this panel Germany.
Skeletal dysplasia with increased bone density Panel Panel
Germany.
By CeGaT GmbH Skeletal dysplasia with increased bone density Panel that also includes the following genes: SLCO2A1 TBXAS1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 CA2 SOST SNX10
More info about this panel Germany.
Disproportionate Short Stature: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Disproportionate Short Stature: Sequencing Panel that also includes the following genes: ROR2 RUNX2 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TBCE TBX6 TRIP11
More info about this panel United States.
Skeletal Dysplasia: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Skeletal Dysplasia: Sequencing Panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SHOX SLC25A12 SLC26A2
More info about this panel United States.
Disproportionate Short Stature: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Disproportionate Short Stature: Deletion/Duplication Panel that also includes the following genes: ROR2 RUNX2 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TBCE TRIP11 TRPS1
More info about this panel United States.
Skeletal Dysplasias NGS panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Skeletal Dysplasias NGS panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SLC25A12 SLC26A2 SMARCAL1
More info about this panel United States.
FAM20C Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the FAM20C gene.
More info about this panel United States.
Osteopetrosis and Dense Bone Dysplasia Panel Panel
Finland.
By Blueprint Genetics Osteopetrosis and Dense Bone Dysplasia Panel that also includes the following genes: SLCO2A1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 TYROBP CA2 SOST SNX10
More info about this panel Finland.
Skeletal Dysplasias Core Panel Panel
Finland.
By Blueprint Genetics Skeletal Dysplasias Core Panel that also includes the following genes: RMRP ROR2 RUNX2 BMP1 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TCIRG1
More info about this panel Finland.
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 Finland.
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 Finland.
Abnormal Mineralization , Panel Massive Sequencing (NGS) 28 Genes Panel
Spain.
By Reference Laboratory Genetics Abnormal Mineralization , Panel Massive Sequencing (NGS) 28 Genes that also includes the following genes: SLC34A1 SLC9A3R1 TJP2 VDR CASR ANKH CLCN5 SLC34A3 CYP2R1 FAM20C
More info about this panel Spain.
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