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.

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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


Potential gene panels for DMP1 gene

Hypophosphatemic Rickets Deletion/Duplication Panel Panel

United States.

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 panel

Hypophosphatemic Rickets Sequencing Panel Panel

United States.

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 panel

DMP1 Gene Sequencing Panel

United States.

By GeneDx

This panel specifically test the DMP1 gene.

More info about this panel

Osteogenesis Imperfecta & Low Bone Mass Disorders Panel Panel

United States.

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 panel

Autosomal recessive hypophosphatemic rickets (sequence analysis of DMP1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the DMP1 gene.

More info about this panel

Rickets (NGS panel for 10 genes) Panel

Portugal.

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 panel

Autosomal recessive hypophosphatemic bone disease Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the DMP1 gene.

More info about this panel

Autosomal recessive hypophosphatemic vitamin D refractory rickets Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the DMP1 gene.

More info about this panel

Hypophosphatemic Rickets, Autosomal Recessive 1 Panel

United Kingdom.

By Exeter Molecular Genetics Laboratory

This panel specifically test the DMP1 gene.

More info about this panel

Osteogenesis Imperfecta, Hypophosphatasia (HPP), and Inherited Hypophosphatemic Rickets Sequencing Panel with CNV Detection Panel

United States.

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 panel

Hypophosphatasia (HPP) and Inherited Hypophosphatemic Rickets Sequencing Panel with CNV Detection Panel

United States.

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 panel

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

Abnormal mineralization disorders Comprehensive Panel Panel

United States.

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 panel

Abnormal mineralization disorders Deletion/ Duplication Panel Panel

United States.

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 panel

Abnormal mineralization disorders NGS panel Panel

United States.

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 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

Dentin matrix acidic phosphoprotein 1 deficiency (DMP1) Panel

Netherlands.

By VU University Medical Center Metabolic Unit, PX 1X 009

This panel specifically test the DMP1 gene.

More info about this panel

Hypophosphatemic rickets, AR type 1 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the DMP1 gene.

More info about this panel

Hypophosphatemic rickets Panel Panel

Germany.

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 panel

Skeletal dysplasia with abnormal mineralization Panel Panel

Germany.

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 panel

Single gene testing DMP1 Panel

Germany.

By CeGaT GmbH

This panel specifically test the DMP1 gene.

More info about this panel

DMP1 Gene Sequencing Panel

Colombia.

By GENETIX Centro de Investigación en Genética Humana y Reproductiva

This panel specifically test the DMP1 gene.

More info about this panel

Osteogenesis Imperfecta and Decreased Bone Density: Sequencing Panel Panel

United States.

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 panel

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

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

DMP1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the DMP1 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

Hypophosphatemic Rickets Panel Panel

Finland.

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 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

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

HYPOPHOSPHATEMIA (FAMILIAL HYPOPHOSPHATEMIC RICKETS) (AUTOSOMAL RECESSIVE) Panel

Spain.

By Laboratorio de Genetica Clinica SL HYPOPHOSPHATEMIA (FAMILIAL HYPOPHOSPHATEMIC RICKETS) (AUTOSOMAL RECESSIVE) that also includes the following genes: DMP1 ENPP1

More info about this panel

FAMILIAL HYPOPHOSPHATEMIC RICKETS: NGS PANEL Panel

Spain.

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 panel

HYPOPHOSPHATEMIA (FAMILIAL HYPOPHOSPHATEMIC RICKETS): NGS PANEL Panel

Spain.

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 panel

HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE Panel

Spain.

By Laboratorio de Genetica Clinica SL HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE that also includes the following genes: DMP1 ENPP1

More info about this panel

Autosomal Recessive Hypophosphatemic Rickets , Sequencing DMP1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the DMP1 gene.

More info about this panel

Hypophosphatemic Rickets , Panel Massive Sequencing (NGS) 7 Genes Panel

Spain.

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 panel

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


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