MMP9 gene related symptoms and diseases
All the information presented here about the MMP9 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to MMP9 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Flexion contracture | Uncommon - Between 30% and 50% cases |
| Metaphyseal dysplasia | Uncommon - Between 30% and 50% cases |
| Abnormality of the lower limb | Uncommon - Between 30% and 50% cases |
| Abnormality of the ulna | Uncommon - Between 30% and 50% cases |
| Aplasia/Hypoplasia of the radius | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with MMP9 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Abnormality of epiphysis morphology
- Bowing of the long bones
- Abnormality of the metaphysis
- Joint stiffness
- Short stature
- Short femoral neck
- Narrow mouth
- Bowing of the legs
And 8 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to MMP9 gene
Here you will find a list of rare diseases related to the MMP9. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ORAL SUBMUCOUS FIBROSIS
Alternate names
ORAL SUBMUCOUS FIBROSIS Is also known as osmf
Description
Oral submucous fibrosis (OSMF) is a chronic, progressive disease that alters the fibroelasticity of the oral submucosa, prevalent in India and Southeast Asia but rare elsewhere, and characterized by burning and pain in the oral cavity, loss of gustatory sensation, the presence of blanched fibrous bands and stiffening of the oral mucosa and oro-pharynx (leading to trismus and a progressive reduction in mouth opening) and an increased risk of developing oral squamous cell cancer (3-19%). It is usually associated with the chewing of the areca nut (an ingredient in betel quid) but the exact etiology is unknown and there is currently no effective treatment.
Most common symptoms of ORAL SUBMUCOUS FIBROSIS
- Flexion contracture
- Narrow mouth
- Trismus
- Cheilitis
- Abnormality of the pharynx
More info about ORAL SUBMUCOUS FIBROSIS
METAPHYSEAL ANADYSPLASIA 2; MANDP2
Most common symptoms of METAPHYSEAL ANADYSPLASIA 2; MANDP2
- Metaphyseal widening
- Metaphyseal irregularity
- Bowing of the legs
- Short femoral neck
- Metaphyseal dysplasia
More info about METAPHYSEAL ANADYSPLASIA 2; MANDP2
METAPHYSEAL ANADYSPLASIA
Alternate names
METAPHYSEAL ANADYSPLASIA Is also known as maroteaux-verloes-stanescu syndrome, regressive metaphyseal dysplasia
Description
Metaphyseal anadysplasia is a very rare form of metaphyseal dysplasia characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that is associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolves by the age of three years. Severe autosomal dominant and milder recessive variants have been observed.
Most common symptoms of METAPHYSEAL ANADYSPLASIA
- Short stature
- Joint stiffness
- Abnormality of the metaphysis
- Bowing of the long bones
- Abnormality of epiphysis morphology
More info about METAPHYSEAL ANADYSPLASIA
SOURCES: ORPHANET
Search interest in MMP9
Potential gene panels for MMP9 gene
Metaphyseal anadysplasia 2 (sequence analysis of MMP9 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the MMP9 gene.
More info about this panel Portugal.
Skeletal dysplasia (NGS panel for 31 genes) Panel
Portugal.
By CGC Genetics Skeletal dysplasia (NGS panel for 31 genes) that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 NSDHL TRPV4 P3H1 SBDS SLC35D1 COL10A1
More info about this panel Portugal.
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.
Metaphyseal anadysplasia Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Metaphyseal anadysplasia Deletion / Duplication panel that also includes the following genes: MMP13 MMP9
More info about this panel United States.
Metaphyseal anadysplasia NGS panel Panel
United States.
By Connective Tissue Gene Tests Metaphyseal anadysplasia NGS panel that also includes the following genes: MMP13 MMP9
More info about this panel United States.
Metaphyseal anadysplasia Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Metaphyseal anadysplasia Comprehensive panel that also includes the following genes: MMP13 MMP9
More info about this panel United States.
Skeletal dysplasia extended NGS panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia extended NGS panel that also includes the following genes: RMRP NSDHL TRPV4 SBDS SLC35D1 COL10A1 COL11A1 COL11A2 DDR2 EBP
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.
Skeletal dysplasia core & extended Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia core & extended Deletion / Duplication panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 NSDHL TRPV4 SBDS SLC35D1 COL10A1 COL11A1
More info about this panel United States.
Skeletal dysplasia extended Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia extended Comprehensive panel that also includes the following genes: RMRP NSDHL TRPV4 SBDS SLC35D1 COL10A1 COL11A1 COL11A2 DDR2 EBP
More info about this panel United States.
Skeletal dysplasia core & extended Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia core & extended Comprehensive panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 NSDHL TRPV4 SBDS SLC35D1 COL10A1 COL11A1
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.
Skeletal dysplasia core & extended NGS panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia core & extended NGS panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 NSDHL TRPV4 SBDS SLC35D1 COL10A1 COL11A1
More info about this panel United States.
Skeletal dysplasia extended Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia extended Deletion / Duplication panel that also includes the following genes: RMRP NSDHL TRPV4 SBDS SLC35D1 COL10A1 COL11A1 COL11A2 DDR2 EBP
More info about this panel United States.
Skeletal dysplasia and skeletal ciliopathy Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia and skeletal ciliopathy Comprehensive panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CFAP410 NSDHL IFT122 IFT81 IFT52 TRPV4
More info about this panel United States.
Skeletal dysplasia and skeletal ciliopathy NGS panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia and skeletal ciliopathy NGS panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CFAP410 NSDHL IFT122 IFT81 IFT52 TRPV4
More info about this panel United States.
Skeletal dysplasia and skeletal ciliopathy Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia and skeletal ciliopathy Deletion / Duplication panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CFAP410 NSDHL IFT122 IFT81 IFT52 TRPV4
More info about this panel United States.
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.
Metaphyseal anadysplasia type 2 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the MMP9 gene.
More info about this panel Germany.
Metaphyseal anadysplasia type 2 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the MMP9 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.
Skeletal dysplasias Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Skeletal dysplasias that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CCN6 NSDHL TRPV4 SBDS EVC2 SLC35D1
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.
MMP9 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the MMP9 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.
SKELETAL DYSPLASIA NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL SKELETAL DYSPLASIA NGS PANEL that also includes the following genes: SLC26A2 SOX9 TRIP11 TRPV4 EVC2 SLC35D1 COL10A1 COL11A1 COL11A2 COL1A2
More info about this panel Spain.
Metaphyseal Dysplasia Related Disorders , Panel Massive Sequencing (NGS) 5 Genes Panel
Spain.
By Reference Laboratory Genetics Metaphyseal Dysplasia Related Disorders , Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: RMRP COL10A1 MMP13 MMP9 PTH1R
More info about this panel Spain.
Skeletal Dysplasias , Panel Massive Sequencing (NGS) 36 Genes Panel
Spain.
By Reference Laboratory Genetics Skeletal Dysplasias , Panel Massive Sequencing (NGS) 36 Genes that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CCN6 NSDHL TRPV4 SBDS EVC2 SLC35D1
More info about this panel Spain.
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