DSPP gene related symptoms and diseases

All the information presented here about the DSPP gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to DSPP gene

Symptoms // Phenotype % Cases
Dentinogenesis imperfecta Common - Between 50% and 80% cases
Periapical bone loss Uncommon - Between 30% and 50% cases
Dentinogenesis imperfecta limited to primary teeth Uncommon - Between 30% and 50% cases
Pulp stones Uncommon - Between 30% and 50% cases
Tinnitus Rare - less than 30% cases

Other less frequent symptoms and clinical features

Patients with DSPP gene alterations may also develop some of the following symptoms and phenotypes:
  • Rarely - Less than 30% cases

  • Bilateral sensorineural hearing impairment
  • Shell teeth
  • Periodontitis
  • Sensorineural hearing impairment
  • Hearing impairment
  • Double tooth
  • Obliteration of the pulp chamber
  • Short dental roots

And 12 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to DSPP gene

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


DENTIN DYSPLASIA TYPE II


Alternate names

DENTIN DYSPLASIA TYPE II Is also known as dtdp2, pulp stones, dd-ii, pulpal dysplasia, dentin dysplasia, shields type ii, anomalous dysplasia of dentin, coronal dentin dysplasia

Description

Dentin dysplasia type II (DD-II) is a rare mild form of dentin dysplasia (DD, see this term) characterized by normal tooth roots but abnormal primary dentition.

Most common symptoms of DENTIN DYSPLASIA TYPE II

  • Dentinogenesis imperfecta
  • Pulp stones
  • Failure of eruption of permanent teeth
  • Dentinogenesis imperfecta limited to primary teeth


More info about DENTIN DYSPLASIA TYPE II

SOURCES: ORPHANET OMIM

DENTIN DYSPLASIA TYPE I


Alternate names

DENTIN DYSPLASIA TYPE I Is also known as dtdp1, dentin dysplasia, shields type i, dd-i, rootless teeth, radicular dentin dysplasia

Description

Dentin dysplasia type I (DD-I) is a rare form of dentin dysplasia (DD, see this term) characterized by sharp conical short roots or rootless teeth.

Most common symptoms of DENTIN DYSPLASIA TYPE I

  • Carious teeth
  • Delayed eruption of teeth
  • Microdontia
  • Increased bone mineral density
  • Oligodontia


More info about DENTIN DYSPLASIA TYPE I

SOURCES: ORPHANET OMIM

DENTINOGENESIS IMPERFECTA TYPE 2


Alternate names

DENTINOGENESIS IMPERFECTA TYPE 2 Is also known as capdepont teeth, opalescent dentin, dgi-ii, opalescent teeth without osteogenesis imperfecta, dentinogenesis imperfecta without osteogenesis imperfecta, di-2, dentinogenesis imperfecta, shields type 2, dentinogenesis imperfecta, shields type ii, dgi-2

Description

Dentinogenesis imperfecta type 2 (DGI-2) is a rare, severe form of dentinogenesis imperfecta (DGI, see this term) and is characterized by weakness and discoloration of all teeth.

Most common symptoms of DENTINOGENESIS IMPERFECTA TYPE 2

  • Hearing impairment
  • Sensorineural hearing impairment
  • Dentinogenesis imperfecta


More info about DENTINOGENESIS IMPERFECTA TYPE 2

SOURCES: ORPHANET OMIM

DENTINOGENESIS IMPERFECTA TYPE 3


Alternate names

DENTINOGENESIS IMPERFECTA TYPE 3 Is also known as dgi-iii, brandywine type dentinogenesis imperfecta, dentinogenesis imperfecta, shields type 3

Description

Dentinogenesis imperfecta type 3 (DGI-3) is a rare, severe form of dentinogenesis imperfecta (DGI, see this term) characterized by opalescent primary and permanent teeth, marked attrition, large pulp chambers, multiple pulp exposure and shell teeth radiographically (i.e. teeth which appear hollow due to dentin hypotrophy).

Most common symptoms of DENTINOGENESIS IMPERFECTA TYPE 3

  • Periodontitis
  • Dentinogenesis imperfecta
  • Shell teeth
  • Periapical bone loss


More info about DENTINOGENESIS IMPERFECTA TYPE 3

SOURCES: OMIM ORPHANET MESH

DEAFNESS, AUTOSOMAL DOMINANT 39, WITH DENTINOGENESIS IMPERFECTA 1


Alternate names

DEAFNESS, AUTOSOMAL DOMINANT 39, WITH DENTINOGENESIS IMPERFECTA 1 Is also known as dfna39/dgi1 syndrome, dfna39/dentinogenesis imperfecta 1 syndrome, dgi1/dfna39 syndrome

Most common symptoms of DEAFNESS, AUTOSOMAL DOMINANT 39, WITH DENTINOGENESIS IMPERFECTA 1

  • Bilateral sensorineural hearing impairment
  • Tinnitus
  • High-frequency hearing impairment
  • Dentinogenesis imperfecta


More info about DEAFNESS, AUTOSOMAL DOMINANT 39, WITH DENTINOGENESIS IMPERFECTA 1

SOURCES: OMIM MESH


Potential gene panels for DSPP gene

Hearing Loss Advanced Sequencing and CNV Evaluation Panel

United States.

By Athena Diagnostics Inc Hearing Loss Advanced Sequencing and CNV Evaluation that also includes the following genes: BCS1L ROR1 SALL1 SEMA3E SIX1 SIX5 SLC12A1 SLC19A2 SLC22A4 SNAI2

More info about this panel

OtoSCOPE Panel

United States.

By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics OtoSCOPE that also includes the following genes: ROR1 SIX1 SIX5 SLC22A4 SNAI2 SMPX SOX10 TBX1 TWNK TCOF1

More info about this panel

Hearing Loss Panel Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Hearing Loss Panel that also includes the following genes: RPS6KA3 SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SMPX SOX10 BTD

More info about this panel

Expanded Hearing Loss Panel, Sequencing and Deletion/Duplication Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Expanded Hearing Loss Panel, Sequencing and Deletion/Duplication that also includes the following genes: SMPX TECTA TMPRSS3 USH1C USH2A CLRN1 WFS1 ESPN CDH23 ACTG1

More info about this panel

DSPP. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the DSPP gene.

More info about this panel

Non syndromic deafness AD (NGS panel for 33 genes) Panel

Portugal.

By CGC Genetics Non syndromic deafness AD (NGS panel for 33 genes) that also includes the following genes: SIX1 TECTA TJP2 WFS1 ACTG1 DIAPH3 TMC1 TMC2 CCDC50 SLC17A8

More info about this panel

Syndromic and non syndromic deafness (NGS panel for 127 genes) Panel

Portugal.

By CGC Genetics Syndromic and non syndromic deafness (NGS panel for 127 genes) that also includes the following genes: SEMA3E SIX1 SIX5 SLC12A1 SLC19A2 SNAI2 SMPX SOX10 TCOF1 TECTA

More info about this panel

Non syndromic deafness AD, AR and XL (NGS panel for 79 genes) Panel

Portugal.

By CGC Genetics Non syndromic deafness AD, AR and XL (NGS panel for 79 genes) that also includes the following genes: SIX1 SLC12A1 SMPX TECTA TJP2 TMPRSS3 USH1C TSPEAR WFS1 ESPN

More info about this panel

Dentinogenesis Imperfecta (DGI) and Dentin Dysplasia (DD) via DSPP Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the DSPP gene.

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

Deafness, autosomal dominant type 36 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the DSPP gene.

More info about this panel

Hearing Loss, nonsyndromic, autosomal dominant and X-linked Panel Panel

Germany.

By CeGaT GmbH Hearing Loss, nonsyndromic, autosomal dominant and X-linked Panel that also includes the following genes: SMPX TECTA TJP2 WFS1 ACTG1 DIAPH3 TMC1 TMC2 CCDC50 SLC17A8

More info about this panel

Usher Syndrome Panel

Estonia.

By Asper Biogene Asper Biogene LLC Usher Syndrome that also includes the following genes: USH1C USH2A CLRN1 CDH23 PCDH15 ABHD12 USH1G WHRN ADGRV1 GIPC3

More info about this panel

qGenEx Craniofacial Anomalies Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qGenEx Craniofacial Anomalies that also includes the following genes: RUNX2 SALL1 TSHZ1 BMP4 SEMA3E SF3B4 SH3BP2 SHH SIX1 SIX3

More info about this panel

Dentinogenesis imperfecta, type 1: DSPP gene sequence analysis. Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the DSPP gene.

More info about this panel

Hearing Loss: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hearing Loss: Sequencing Panel that also includes the following genes: RPS6KA3 SALL1 SIX1 SIX5 SMPX SOX10 BTD TCOF1 TECTA TIMM8A

More info about this panel

Hearing Loss: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hearing Loss: Deletion/Duplication Panel that also includes the following genes: RPS6KA3 SALL1 SIX1 SMPX BTD TECTA TIMM8A TJP2 TMPRSS3 USH1C

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

Hearing Loss NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Hearing Loss NGS Panel that also includes the following genes: BCS1L SIX1 SNAI2 SMPX SOX10 TBL1X TCF21 TECTA TIMM8A TJP2

More info about this panel

DSPP Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the DSPP gene.

More info about this panel

Comprehensive Hearing Loss and Deafness Panel Panel

Finland.

By Blueprint Genetics Comprehensive Hearing Loss and Deafness Panel that also includes the following genes: BCS1L RPS6KA3 SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SMPX SOX10

More info about this panel

Non-Syndromic Hearing Loss Panel Panel

Finland.

By Blueprint Genetics Non-Syndromic Hearing Loss Panel that also includes the following genes: SIX1 SMPX TECTA TJP2 TMPRSS3 USH1C TSPEAR WBP2 WFS1 ESPN

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

Dentinogenesis imperfecta, Shields type II Panel

Spain.

By Bioarray

This panel specifically test the DSPP gene.

More info about this panel

Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel Panel

United States.

By Otogenetics Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel that also includes the following genes: BCS1L SIX1 SIX5 SNAI2 SMPX SOX2 TBL1X TCF21 TECTA TFCP2

More info about this panel

DENTINOGENESIS IMPERFECTA Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the DSPP gene.

More info about this panel

DEAFNESS, NONSYNDROMIC SENSORINEURAL (AUTOSOMAL DOMINANT) NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL DEAFNESS, NONSYNDROMIC SENSORINEURAL (AUTOSOMAL DOMINANT) NGS PANEL that also includes the following genes: SIX1 SMPX TECTA TJP2 WFS1 ACTG1 P2RX2 DIAPH3 OSBPL2 CD164

More info about this panel

Dentinogenesis Imperfecta, Sequencing DSPP Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the DSPP gene.

More info about this panel

Dentinogenesis Imperfecta, Panel Massive Sequencing (NGS) 4 Genes Panel

Spain.

By Reference Laboratory Genetics Dentinogenesis Imperfecta, Panel Massive Sequencing (NGS) 4 Genes that also includes the following genes: WNT10A DSPP MSX1 PTH1R

More info about this panel


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