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
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
Search interest in RUNX2
Potential gene panels for RUNX2 gene
RUNX2 Sequence Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the RUNX2 gene.
More info about this panelRUNX2 Sequence Analysis (Prenatal Diagnosis) Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the RUNX2 gene.
More info about this panelRUNX2 Sequence Analysis (Familial Mutation/Variant Analysis) Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the RUNX2 gene.
More info about this panelRUNX2 Sequencing Panel
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 panelCraniofacial Sequencing Panel Panel
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 panelCraniofacial Deletion/Duplication Panel Panel
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 panelSkeletal Dysplasia Panel, Sequencing and Deletion/Duplication Panel
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 panelSkeletal Dysplasia Panel, Sequencing and Deletion/Duplication, Fetal Panel
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 panelCraniosynostosis Panel
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 panelRUNX2. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the RUNX2 gene.
More info about this panelCraniosynostosis Sequence Analysis Panel
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 panelCraniofacial Del/Dup Panel Panel
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 panelCraniosynostosis Del/Dup Panel Panel
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 panelCraniosynostosis Seq + Del/Dup Panel Panel
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 panelCraniofacial Seq + Del/Dup Panel Panel
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 panelCraniofacial Seq Analysis Panel
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 panelCleidocranial dysplasia (sequence analysis of RUNX2 gene) Panel
By CGC Genetics
This panel specifically test the RUNX2 gene.
More info about this panelCraniofacial anomalies (deletions/duplications analysis of FGFR1, FGFR2, FGFR3, TWIST1, MSX2, ALX1, ALX3, ALX4, EFNB1 and RUNX2 genes) Panel
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 panelCleidocranial Dysplasia (CCD) via RUNX2 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the RUNX2 gene.
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 panelSpondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel Panel
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 panelSpondylo-Epi-Metaphyseal dysplasias Comprehensive panel Panel
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 panelSpondylo-Epi-Metaphyseal dysplasias NGS panel Panel
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 panelCleidocranial dysplasia Comprehensive Test Panel
By Connective Tissue Gene Tests
This panel specifically test the RUNX2 gene.
More info about this panelCleidocranial dysplasia NGS Test Panel
By Connective Tissue Gene Tests
This panel specifically test the RUNX2 gene.
More info about this panelMetaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly NGS Test Panel
By Connective Tissue Gene Tests
This panel specifically test the RUNX2 gene.
More info about this panelCleidocranial dysplasia Deletion / Duplication Test Panel
By Connective Tissue Gene Tests
This panel specifically test the RUNX2 gene.
More info about this panelMetaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly Deletion / Duplication Test Panel
By Connective Tissue Gene Tests
This panel specifically test the RUNX2 gene.
More info about this panelMetaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly Comprehensive Test Panel
By Connective Tissue Gene Tests
This panel specifically test the RUNX2 gene.
More info about this panelCleidocranial Dysplasia Panel
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the RUNX2 gene.
More info about this panelMetaphyseal dysplasia panel Panel
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 panelCleidocranial dysplasia Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the RUNX2 gene.
More info about this panelCleidocranial Dysplasia Panel
By bio.logis Center for Human Genetics Diagnosticum
This panel specifically test the RUNX2 gene.
More info about this panelMetaphyseal dysplasia Panel Panel
By CeGaT GmbH Metaphyseal dysplasia Panel that also includes the following genes: RMRP RUNX2 SBDS COL10A1 FGFR3 MMP13 MMP9 PTH1R
More info about this panelSyndromes with immunodeficiency Panel Panel
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 panelSingle gene testing RUNX2 Panel
By CeGaT GmbH
This panel specifically test the RUNX2 gene.
More info about this panelqChip Panel
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 panelqGenEx Craniofacial Anomalies Panel
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 panelCleidocranial dysplasia: RUNX2 gene sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the RUNX2 gene.
More info about this panelDisproportionate Short Stature: Sequencing Panel Panel
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 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 panelDisproportionate Short Stature: Deletion/Duplication Panel Panel
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 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 panelRUNX2 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the RUNX2 gene.
More info about this panelMetaphyseal Dysplasia Panel Panel
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 panelSkeletal Dysplasias Core Panel Panel
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 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 panelRUNX2 full sequence Panel
By Bioarray
This panel specifically test the RUNX2 gene.
More info about this panelCleidocranial dysplasia Panel
By Bioarray
This panel specifically test the RUNX2 gene.
More info about this panelRapid microarray (CGH and SNP) Panel
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 panelHigh-Resolution Rapid Microarray (CGH and SNP) Panel
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 panelCLEIDOCRANIAL DYSPLASIA (DYSOSTOSIS) Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the RUNX2 gene.
More info about this panelCleidocranial Dysplasia, Sequencing RUNX2 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the RUNX2 gene.
More info about this panelCleidocranial Dysplasia, Panel Massive Sequencing (NGS) RUNX2, ALX4, MSX2 Genes Panel
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 panelTempus xO assay Panel
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
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