DMP1 gene related symptoms and diseases
All the information presented here about the DMP1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to DMP1 gene
Symptoms // Phenotype | % Cases |
---|---|
Sensorineural hearing impairment | Very Common - Between 80% and 100% cases |
Coxa vara | Very Common - Between 80% and 100% cases |
Renal phosphate wasting | Very Common - Between 80% and 100% cases |
Hypophosphatemic rickets | Very Common - Between 80% and 100% cases |
Genu varum | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with DMP1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Osteomalacia
- Craniosynostosis
- Increased bone mineral density
Not very common - Between 30% and 50% cases
- Elevated alkaline phosphatase of bone origin
- Hyperphosphaturia
- Enlargement of the wrists
- Hypocalcemic tetany
- Sclerotic vertebral endplates
And 33 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to DMP1 gene
Here you will find a list of rare diseases related to the DMP1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 1; ARHR1
Alternate names
HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 1; ARHR1 Is also known as hypophosphatemia, autosomal recessive, arhr, arhp
Most common symptoms of HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 1; ARHR1
- Sensorineural hearing impairment
- Pain
- Joint stiffness
- Craniosynostosis
- Carious teeth
More info about HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 1; ARHR1
SOURCES: OMIM
AUTOSOMAL RECESSIVE HYPOPHOSPHATEMIC RICKETS
Alternate names
AUTOSOMAL RECESSIVE HYPOPHOSPHATEMIC RICKETS Is also known as arhr
Description
Autosomal recessive hypophosphatemic rickets (ARHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth.
Most common symptoms of AUTOSOMAL RECESSIVE HYPOPHOSPHATEMIC RICKETS
- Seizures
- Short stature
- Growth delay
- Sensorineural hearing impairment
- Muscle weakness
More info about AUTOSOMAL RECESSIVE HYPOPHOSPHATEMIC RICKETS
SOURCES: ORPHANET
Search interest in DMP1
Potential gene panels for DMP1 gene
Hypophosphatemic Rickets Deletion/Duplication Panel Panel
By Genetic Services Laboratory University of Chicago Hypophosphatemic Rickets Deletion/Duplication Panel that also includes the following genes: VDR CLCN5 SLC34A3 CYP2R1 CYP27B1 DMP1 ENPP1 FGF23 ALPL PHEX
More info about this panelHypophosphatemic Rickets Sequencing Panel Panel
By Genetic Services Laboratory University of Chicago Hypophosphatemic Rickets Sequencing Panel that also includes the following genes: VDR CLCN5 SLC34A3 CYP2R1 CYP27B1 DMP1 ENPP1 FGF23 ALPL PHEX
More info about this panelDMP1 Gene Sequencing Panel
By GeneDx
This panel specifically test the DMP1 gene.
More info about this panelOsteogenesis Imperfecta & Low Bone Mass Disorders Panel Panel
By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Osteogenesis Imperfecta & Low Bone Mass Disorders Panel that also includes the following genes: BMP1 SEC24D SPARC WNT1 CASR SERPINH1 IFITM5 SP7 FKBP10 CREB3L1
More info about this panelAutosomal recessive hypophosphatemic rickets (sequence analysis of DMP1 gene) Panel
By CGC Genetics
This panel specifically test the DMP1 gene.
More info about this panelRickets (NGS panel for 10 genes) Panel
By CGC Genetics Rickets (NGS panel for 10 genes) that also includes the following genes: VDR CLCN5 SLC34A3 CYP2R1 CYP27B1 DMP1 ENPP1 FGF23 ALPL PHEX
More info about this panelAutosomal recessive hypophosphatemic bone disease Panel
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the DMP1 gene.
More info about this panelAutosomal recessive hypophosphatemic vitamin D refractory rickets Panel
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the DMP1 gene.
More info about this panelHypophosphatemic Rickets, Autosomal Recessive 1 Panel
By Exeter Molecular Genetics Laboratory
This panel specifically test the DMP1 gene.
More info about this panelOsteogenesis Imperfecta, Hypophosphatasia (HPP), and Inherited Hypophosphatemic Rickets Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Osteogenesis Imperfecta, Hypophosphatasia (HPP), and Inherited Hypophosphatemic Rickets Sequencing Panel with CNV Detection that also includes the following genes: SCN9A BMP1 SEC24D SLC2A2 SPARC WNT1 MBTPS2 SERPINH1 XYLT2 NBAS
More info about this panelHypophosphatasia (HPP) and Inherited Hypophosphatemic Rickets Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Hypophosphatasia (HPP) and Inherited Hypophosphatemic Rickets Sequencing Panel with CNV Detection that also includes the following genes: SLC34A3 CYP27B1 DMP1 ENPP1 FGF23 ALPL PHEX
More info about this panelSkeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel
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 panelAbnormal mineralization disorders Comprehensive Panel Panel
By Connective Tissue Gene Tests Abnormal mineralization disorders Comprehensive Panel that also includes the following genes: SLC34A1 SLC9A3R1 VDR CASR ANKH CLCN5 SLC34A3 CYP27B1 DMP1 ENPP1
More info about this panelAbnormal mineralization disorders Deletion/ Duplication Panel Panel
By Connective Tissue Gene Tests Abnormal mineralization disorders Deletion/ Duplication Panel that also includes the following genes: SLC34A1 SLC9A3R1 VDR CASR ANKH CLCN5 SLC34A3 CYP27B1 DMP1 ENPP1
More info about this panelAbnormal mineralization disorders NGS panel Panel
By Connective Tissue Gene Tests Abnormal mineralization disorders NGS panel that also includes the following genes: SLC34A1 SLC9A3R1 VDR CASR ANKH CLCN5 SLC34A3 CYP27B1 DMP1 ENPP1
More info about this panelHereditary kidney disorders - different panels Panel
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 panelDentin matrix acidic phosphoprotein 1 deficiency (DMP1) Panel
By VU University Medical Center Metabolic Unit, PX 1X 009
This panel specifically test the DMP1 gene.
More info about this panelHypophosphatemic rickets, AR type 1 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the DMP1 gene.
More info about this panelHypophosphatemic rickets Panel Panel
By CeGaT GmbH Hypophosphatemic rickets Panel that also includes the following genes: SLC34A1 VDR CLCN5 SLC34A3 DMP1 ENPP1 FAH FGF23 KL OCRL
More info about this panelSkeletal dysplasia with abnormal mineralization Panel Panel
By CeGaT GmbH Skeletal dysplasia with abnormal mineralization Panel that also includes the following genes: SLC34A1 SLC9A3R1 VDR CASR ANKH CLCN5 SLC34A3 CYP2R1 CYP27B1 DMP1
More info about this panelSingle gene testing DMP1 Panel
By CeGaT GmbH
This panel specifically test the DMP1 gene.
More info about this panelDMP1 Gene Sequencing Panel
By GENETIX Centro de Investigación en Genética Humana y Reproductiva
This panel specifically test the DMP1 gene.
More info about this panelOsteogenesis Imperfecta and Decreased Bone Density: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Osteogenesis Imperfecta and Decreased Bone Density: Sequencing Panel that also includes the following genes: TNFRSF11A TYROBP ZMPSTE24 CASR SERPINH1 ANKH IFITM5 SP7 TREM2 FKBP10
More info about this panelSkeletal Dysplasia: Sequencing Panel Panel
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 panelSkeletal Dysplasias NGS panel Panel
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 panelDMP1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the DMP1 gene.
More info about this panelKidneySeq - 264 Genes Panel
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 panelHypophosphatemic Rickets Panel Panel
By Blueprint Genetics Hypophosphatemic Rickets Panel that also includes the following genes: SLC34A1 VDR CLCN5 SLC34A3 CYP2R1 CYP27B1 DMP1 ENPP1 FAH FGF23
More info about this panelComprehensive Skeletal Dysplasias and Disorders Panel Panel
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 panelComprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel
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 panelHYPOPHOSPHATEMIA (FAMILIAL HYPOPHOSPHATEMIC RICKETS) (AUTOSOMAL RECESSIVE) Panel
By Laboratorio de Genetica Clinica SL HYPOPHOSPHATEMIA (FAMILIAL HYPOPHOSPHATEMIC RICKETS) (AUTOSOMAL RECESSIVE) that also includes the following genes: DMP1 ENPP1
More info about this panelFAMILIAL HYPOPHOSPHATEMIC RICKETS: NGS PANEL Panel
By Laboratorio de Genetica Clinica SL FAMILIAL HYPOPHOSPHATEMIC RICKETS: NGS PANEL that also includes the following genes: SLC34A3 DMP1 ENPP1 FGF23 PHEX
More info about this panelHYPOPHOSPHATEMIA (FAMILIAL HYPOPHOSPHATEMIC RICKETS): NGS PANEL Panel
By Laboratorio de Genetica Clinica SL HYPOPHOSPHATEMIA (FAMILIAL HYPOPHOSPHATEMIC RICKETS): NGS PANEL that also includes the following genes: SLC34A3 DMP1 ENPP1 FGF23 PHEX
More info about this panelHYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE Panel
By Laboratorio de Genetica Clinica SL HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE that also includes the following genes: DMP1 ENPP1
More info about this panelAutosomal Recessive Hypophosphatemic Rickets , Sequencing DMP1 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the DMP1 gene.
More info about this panelHypophosphatemic Rickets , Panel Massive Sequencing (NGS) 7 Genes Panel
By Reference Laboratory Genetics Hypophosphatemic Rickets , Panel Massive Sequencing (NGS) 7 Genes that also includes the following genes: SLC34A3 CYP27B1 DMP1 ENPP1 FGF23 ALPL PHEX
More info about this panelAbnormal Mineralization , Panel Massive Sequencing (NGS) 28 Genes Panel
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
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