ACVR1 gene related symptoms and diseases
All the information presented here about the ACVR1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ACVR1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Short 1st metacarpal | Very Common - Between 80% and 100% cases |
| Sarcoma | Very Common - Between 80% and 100% cases |
| Back pain | Very Common - Between 80% and 100% cases |
| Metaphyseal widening | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with ACVR1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Hallux valgus
- Spinal rigidity
- Hamartoma
- Basal ganglia calcification
- Alopecia of scalp
- Ankylosis
- Exostoses
- Broad neck
And 53 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ACVR1 gene
Here you will find a list of rare diseases related to the ACVR1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
FIBRODYSPLASIA OSSIFICANS PROGRESSIVA
Alternate names
FIBRODYSPLASIA OSSIFICANS PROGRESSIVA Is also known as stone man syndrome, fop, myositis ossificans progressiva
Description
Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites.
Most common symptoms of FIBRODYSPLASIA OSSIFICANS PROGRESSIVA
- Intellectual disability
- Seizures
- Global developmental delay
- Hearing impairment
- Scoliosis
More info about FIBRODYSPLASIA OSSIFICANS PROGRESSIVA
Search interest in ACVR1
Potential gene panels for ACVR1 gene
NGS Connective Tissue Disorders Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Connective Tissue Disorders Panel that also includes the following genes: SKI TGFB2 TGFBR1 TGFBR2 TNXB ACTA2 SLC2A10 CBS ACVR1 ATP6V0A2
More info about this panel United States.
Optic Atrophy and Early Glaucoma Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Optic Atrophy and Early Glaucoma Panel that also includes the following genes: SLC4A4 SPG7 TBK1 ACO2 BEST1 WFS1 ACVR1 OPTN ASB10 MFRP
More info about this panel United States.
Fibrodysplasia Ossificans Progressiva Panel
United States.
By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine
This panel specifically test the ACVR1 gene.
More info about this panel United States.
ACVR1. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the ACVR1 gene.
More info about this panel Spain.
ACVR1. Detection of the mutation c.617G>A (p.Arg206His) Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the ACVR1 gene.
More info about this panel Spain.
Fibrodysplasia ossificans progressiva (sequence analysis of ACVR1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the ACVR1 gene.
More info about this panel Portugal.
Test for Fibrodysplasia Ossificans Progressiva Panel
Germany.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the ACVR1 gene.
More info about this panel Germany.
Fibrodysplasia Ossificans progressiva (FOP) via ACVR1 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the ACVR1 gene.
More info about this panel United States.
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.
Fibrodysplasia ossificans progressiva NGS Test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the ACVR1 gene.
More info about this panel United States.
Fibrodysplasia ossificans progressiva Deletion / Duplication Test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the ACVR1 gene.
More info about this panel United States.
Fibrodysplasia ossificans progressiva Comprehensive Test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the ACVR1 gene.
More info about this panel United States.
Mental retardation - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
More info about this panel Germany.
Fibrodysplasia ossificans progressiva Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the ACVR1 gene.
More info about this panel Germany.
Congenital and Distal Myopathies Panel Panel
Germany.
By CeGaT GmbH Congenital and Distal Myopathies Panel that also includes the following genes: RYR1 BIN1 STIM1 SUCLA2 TWNK TIA1 TK2 TNNT1 TPM2 TPM3
More info about this panel Germany.
Glaucoma Panel
Estonia.
By Asper Biogene Asper Biogene LLC Glaucoma that also includes the following genes: SLC4A4 BEST1 ACVR1 OPTN ASB10 CANT1 SBF2 COL18A1 CYP1B1 WDR36
More info about this panel Estonia.
NGS Panel for Iron related Anemias (including Aceruloplasminemia, Atransferrinemia, IRIDA, DMT1-deficiency =AHMIO1, Hypochromic microcytic anemia with iron overload 2=AHMIO2) Panel
Spain.
By BLOODGENETICS BLOODGENETICS NGS Panel for Iron related Anemias (including Aceruloplasminemia, Atransferrinemia, IRIDA, DMT1-deficiency =AHMIO1, Hypochromic microcytic anemia with iron overload 2=AHMIO2) that also includes the following genes: SLC11A2 TF TMPRSS6 ACVR1 CP STEAP3 ATP4A ATP7B
More info about this panel Spain.
Fibrodysplasia ossificans progressiva(FOP), ACVR1 sequencing Panel
United States.
By Molecular Diagnostics Laboratory University of Toledo Medical Center
This panel specifically test the ACVR1 gene.
More info about this panel United States.
Fibrodysplasia ossificans progressiva(FOP),ACVR1 ,R206H sequencing Panel
United States.
By Molecular Diagnostics Laboratory University of Toledo Medical Center
This panel specifically test the ACVR1 gene.
More info about this panel United States.
Cardiovascular Diseases_General Panel Panel
Spain.
By Health in Code Cardiovascular Diseases_General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR1 RYR2 SAR1B BLK SCN10A SCN1B SCN2B
More info about this panel Spain.
Congenital heart diseases Panel Panel
Spain.
By Health in Code Congenital heart diseases Panel that also includes the following genes: BRAF SOS1 TBX1 TBX20 TBX5 TFAP2B TNNI3 MED12 ZIC3 ACTA2
More info about this panel Spain.
Glaucoma (Advance) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Glaucoma (Advance) that also includes the following genes: RPS19 SLC4A4 TTR BEST1 RPGRIP1 CA4 ACVR1 OPTN ASB10 OLFM2
More info about this panel Spain.
Connective Tissue Disorders: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Connective Tissue Disorders: Sequencing Panel that also includes the following genes: TGFBR1 TGFBR2 ACTA2 SLC2A10 CBS ACVR1 ATP6V0A2 FKBP14 SLC39A13 ADAMTS2
More info about this panel United States.
Connective Tissue Disorders: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Connective Tissue Disorders: Deletion/Duplication Panel that also includes the following genes: TGFBR1 TGFBR2 ACTA2 SLC2A10 CBS ACVR1 ATP6V0A2 FKBP14 SLC39A13 ADAMTS2
More info about this panel United States.
Connective Tissue NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Connective Tissue NGS Panel that also includes the following genes: TGFBR1 TGFBR2 ACTA2 SLC2A10 CBS ACVR1 ATP6V0A2 FKBP14 SLC39A13 ADAMTS2
More info about this panel United States.
Glaucoma NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Glaucoma NGS Panel that also includes the following genes: RPS19 SLC4A4 TTR BEST1 CA4 ACVR1 OPTN RRM2B CANT1 SBF2
More info about this panel United States.
ACVR1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ACVR1 gene.
More info about this panel United States.
Congenital Structural Heart Disease Panel Panel
Finland.
By Blueprint Genetics Congenital Structural Heart Disease Panel that also includes the following genes: BMPR2 SOS2 TBX1 TBX20 TBX5 TFAP2B TLL1 ZIC3 ACTA2 ACTB
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.
Fibrodysplasia ossificans progressiva Panel
Spain.
By Bioarray
This panel specifically test the ACVR1 gene.
More info about this panel Spain.
GLAUCOMA NGS ÀNEL Panel
Spain.
By Laboratorio de Genetica Clinica SL GLAUCOMA NGS ÀNEL that also includes the following genes: SLC4A4 TEK BEST1 ACVR1 OPTN ASB10 MFRP CANT1 SBF2 COL18A1
More info about this panel Spain.
Progressive Ossificans Fibrodysplasia, Sequencing ACVR1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the ACVR1 gene.
More info about this panel Spain.
Conective Tissue Related Disorders , Panel Massive Sequencing (NGS) 39 Genes Panel
Spain.
By Reference Laboratory Genetics Conective Tissue Related Disorders , Panel Massive Sequencing (NGS) 39 Genes that also includes the following genes: TGFB2 TGFB3 TGFBR1 TGFBR2 TNXB ACTA2 ADAMTS10 SLC2A10 CBS ACVR1
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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