RUNX2 gene related symptoms and diseases

All the information presented here about the RUNX2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to RUNX2 gene

Symptoms // Phenotype % Cases
Short stature Very Common - Between 80% and 100% cases
Brachydactyly Very Common - Between 80% and 100% cases
Skeletal dysplasia Common - Between 50% and 80% cases
Short clavicles Common - Between 50% and 80% cases
Increased number of teeth Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with RUNX2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Short middle phalanx of the 2nd finger
  • Short middle phalanx of the 5th finger
  • Coxa vara
  • Wormian bones
  • Large fontanelles
  • Hearing impairment
  • Delayed eruption of teeth
  • High, narrow palate

And 107 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to RUNX2 gene

Here you will find a list of rare diseases related to the RUNX2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


CLEIDOCRANIAL DYSPLASIA

Alternate names

CLEIDOCRANIAL DYSPLASIA Is also known as high scapula, cleidocranial dysostosis

Description

Cleidocranial dysplasia (CCD) is a rare genetic developmental abnormality of bone characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanels and sutures and multiple dental abnormalities.

Most common symptoms of CLEIDOCRANIAL DYSPLASIA

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia


More info about CLEIDOCRANIAL DYSPLASIA

SOURCES: ORPHANET OMIM

CLEIDOCRANIAL DYSPLASIA; CCD

Alternate names

CLEIDOCRANIAL DYSPLASIA; CCD Is also known as clcd, cleidocranial dysostosis

Description

The main clinical features of CCD include persistently open skull sutures with bulging calvaria, hypoplasia or aplasia of the clavicles permitting abnormal facility in apposing the shoulders, wide pubic symphysis, short middle phalanx of the fifth fingers, dental anomalies, and often vertebral malformation.See {168550} for a discussion of the combination of cleidocranial dysplasia and parietal foramina. Pycnodysostosis (OMIM ) and mandibuloacral dysplasia (OMIM ) are disorders to be considered in the differential diagnosis of cleidocranial dysplasia. Acroosteolysis and bone sclerosis with tendency to fracture are differentiating features of pycnodysostosis.Mundlos (1999) provided a review of the clinical features of cleidocranial dysplasia and the molecular basis of this disorder.

Most common symptoms of CLEIDOCRANIAL DYSPLASIA; CCD

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay


More info about CLEIDOCRANIAL DYSPLASIA; CCD

SOURCES: OMIM

METAPHYSEAL DYSPLASIA-MAXILLARY HYPOPLASIA-BRACHYDACTY SYNDROME

Description

Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome is characterized by metaphyseal dysplasia associated with short stature and facial dysmorphism (a beaked nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth) and acral anomalies (short fifth metacarpals and/or short middle phalanges of fingers two and five). It has been described in several members spanning four generations of a French-Canadian family. The syndrome is likely to be transmitted as an autosomal dominant trait.

Most common symptoms of METAPHYSEAL DYSPLASIA-MAXILLARY HYPOPLASIA-BRACHYDACTY SYNDROME

  • Short stature
  • Brachydactyly
  • Osteoporosis
  • Short philtrum
  • Platyspondyly


More info about METAPHYSEAL DYSPLASIA-MAXILLARY HYPOPLASIA-BRACHYDACTY SYNDROME

SOURCES: OMIM ORPHANET


Potential gene panels for RUNX2 gene

RUNX2 Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the RUNX2 gene.

More info about this panel
United States.

RUNX2 Sequence Analysis (Prenatal Diagnosis) Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the RUNX2 gene.

More info about this panel
United States.

RUNX2 Sequence Analysis (Familial Mutation/Variant Analysis) Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the RUNX2 gene.

More info about this panel
United States.

RUNX2 Sequencing Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the RUNX2 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.

Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication that also includes the following genes: RUNX2 SLC26A2 SOX9 TRIP11 SERPINH1 TRPV4 FKBP10 WDR19 P3H1 EVC2

More info about this panel
United States.

Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication, Fetal Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication, Fetal that also includes the following genes: RUNX2 SLC26A2 SOX9 TRIP11 SERPINH1 TRPV4 FKBP10 WDR19 P3H1 EVC2

More info about this panel
United States.

Craniosynostosis Panel

United States.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Craniosynostosis that also includes the following genes: RUNX2 SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 CDC45

More info about this panel
United States.

RUNX2. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the RUNX2 gene.

More info about this panel
Spain.

Craniosynostosis Sequence Analysis Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniosynostosis Sequence Analysis that also includes the following genes: RUNX2 SKI TCF12 TWIST1 ZIC1 IFT122 RAB23 CD96 SPECC1L WDR35

More info about this panel
United States.

Craniofacial Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniofacial Del/Dup Panel that also includes the following genes: RUNX2 SALL1 SF3B4 SIX1 SIX5 SKI SNRPB TCF12 TCOF1 TWIST1

More info about this panel
United States.

Craniosynostosis Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniosynostosis Del/Dup Panel that also includes the following genes: RUNX2 SKI TCF12 TWIST1 ZIC1 IFT122 RAB23 CD96 SPECC1L WDR35

More info about this panel
United States.

Craniosynostosis Seq + Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniosynostosis Seq + Del/Dup Panel that also includes the following genes: RUNX2 SKI TCF12 TWIST1 ZIC1 IFT122 RAB23 CD96 SPECC1L WDR35

More info about this panel
United States.

Craniofacial Seq + Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniofacial Seq + Del/Dup Panel that also includes the following genes: RUNX2 SALL1 SF3B4 SIX1 SIX5 SKI SNRPB TCF12 TCOF1 TWIST1

More info about this panel
United States.

Craniofacial Seq Analysis Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniofacial Seq Analysis that also includes the following genes: RUNX2 SALL1 SF3B4 SIX1 SIX5 SKI SNRPB TCF12 TCOF1 TWIST1

More info about this panel
United States.

Cleidocranial dysplasia (sequence analysis of RUNX2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the RUNX2 gene.

More info about this panel
Portugal.

Craniofacial anomalies (deletions/duplications analysis of FGFR1, FGFR2, FGFR3, TWIST1, MSX2, ALX1, ALX3, ALX4, EFNB1 and RUNX2 genes) Panel

Portugal.

By CGC Genetics Craniofacial anomalies (deletions/duplications analysis of FGFR1, FGFR2, FGFR3, TWIST1, MSX2, ALX1, ALX3, ALX4, EFNB1 and RUNX2 genes) that also includes the following genes: RUNX2 TWIST1 ALX1 EFNB1 FGFR1 FGFR2 FGFR3 ALX3 ALX4 MSX2

More info about this panel
Portugal.

Cleidocranial Dysplasia (CCD) via RUNX2 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the RUNX2 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.

Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel that also includes the following genes: RMRP BGN RUNX2 SLC26A2 SMARCAL1 ACP5 CFAP410 CCN6 XYLT1 RAB33B

More info about this panel
United States.

Spondylo-Epi-Metaphyseal dysplasias Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Spondylo-Epi-Metaphyseal dysplasias Comprehensive panel that also includes the following genes: RMRP BGN RUNX2 SLC26A2 SMARCAL1 ACP5 CFAP410 CCN6 XYLT1 RAB33B

More info about this panel
United States.

Spondylo-Epi-Metaphyseal dysplasias NGS panel Panel

United States.

By Connective Tissue Gene Tests Spondylo-Epi-Metaphyseal dysplasias NGS panel that also includes the following genes: RMRP BGN RUNX2 SLC26A2 SMARCAL1 ACP5 CFAP410 CCN6 XYLT1 RAB33B

More info about this panel
United States.

Cleidocranial dysplasia Comprehensive Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the RUNX2 gene.

More info about this panel
United States.

Cleidocranial dysplasia NGS Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the RUNX2 gene.

More info about this panel
United States.

Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly NGS Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the RUNX2 gene.

More info about this panel
United States.

Cleidocranial dysplasia Deletion / Duplication Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the RUNX2 gene.

More info about this panel
United States.

Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly Deletion / Duplication Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the RUNX2 gene.

More info about this panel
United States.

Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly Comprehensive Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the RUNX2 gene.

More info about this panel
United States.

Cleidocranial Dysplasia Panel

Germany.

By Bioscientia GmbH Center for Human Genetics

This panel specifically test the RUNX2 gene.

More info about this panel
Germany.

Metaphyseal dysplasia panel Panel

Germany.

By Centogene AG - the Rare Disease Company Metaphyseal dysplasia panel that also includes the following genes: RMRP RUNX2 ANKH CDKN1C FLNA MMP13 MMP9 NKX3-2

More info about this panel
Germany.

Cleidocranial dysplasia Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the RUNX2 gene.

More info about this panel
Germany.

Cleidocranial Dysplasia Panel

Germany.

By bio.logis Center for Human Genetics Diagnosticum

This panel specifically test the RUNX2 gene.

More info about this panel
Germany.

Metaphyseal dysplasia Panel Panel

Germany.

By CeGaT GmbH Metaphyseal dysplasia Panel that also includes the following genes: RMRP RUNX2 SBDS COL10A1 FGFR3 MMP13 MMP9 PTH1R

More info about this panel
Germany.

Syndromes with immunodeficiency Panel Panel

Germany.

By CeGaT GmbH Syndromes with immunodeficiency Panel that also includes the following genes: RMRP RUNX2 BLM SMARCAL1 STAT3 TBX1 TERC TERT TINF2 TREX1

More info about this panel
Germany.

Single gene testing RUNX2 Panel

Germany.

By CeGaT GmbH

This panel specifically test the RUNX2 gene.

More info about this panel
Germany.

qChip Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qChip that also includes the following genes: RS1 RUNX2 SALL1 SCN1A BMPR1A SH2D1A SEM1 SHH SHOX SIM1

More info about this panel
Spain.

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
Spain.

Cleidocranial dysplasia: RUNX2 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the RUNX2 gene.

More info about this panel
Spain.

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.

RUNX2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the RUNX2 gene.

More info about this panel
United States.

Metaphyseal Dysplasia Panel Panel

Finland.

By Blueprint Genetics Metaphyseal Dysplasia Panel that also includes the following genes: RMRP RUNX2 ANKH CDKN1C SBDS COL10A1 FGFR3 FLNA MMP13 MMP9

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.

RUNX2 full sequence Panel

Spain.

By Bioarray

This panel specifically test the RUNX2 gene.

More info about this panel
Spain.

Cleidocranial dysplasia Panel

Spain.

By Bioarray

This panel specifically test the RUNX2 gene.

More info about this panel
Spain.

Rapid microarray (CGH and SNP) Panel

United States.

By Allele Diagnostics Allele Diagnostics Rapid microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A

More info about this panel
United States.

High-Resolution Rapid Microarray (CGH and SNP) Panel

United States.

By Allele Diagnostics Allele Diagnostics High-Resolution Rapid Microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A

More info about this panel
United States.

CLEIDOCRANIAL DYSPLASIA (DYSOSTOSIS) Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the RUNX2 gene.

More info about this panel
Spain.

Cleidocranial Dysplasia, Sequencing RUNX2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the RUNX2 gene.

More info about this panel
Spain.

Cleidocranial Dysplasia, Panel Massive Sequencing (NGS) RUNX2, ALX4, MSX2 Genes Panel

Spain.

By Reference Laboratory Genetics Cleidocranial Dysplasia, Panel Massive Sequencing (NGS) RUNX2, ALX4, MSX2 Genes that also includes the following genes: RUNX2 ALX4 MSX2

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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