MMP2 gene related symptoms and diseases

All the information presented here about the MMP2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to MMP2 gene

Symptoms // Phenotype % Cases
Flexion contracture Uncommon - Between 30% and 50% cases
Hip contracture Rare - less than 30% cases
Delayed closure of the anterior fontanelle Rare - less than 30% cases
Generalized osteoporosis Rare - less than 30% cases
Vertebral compression fractures Rare - less than 30% cases

Other less frequent symptoms and clinical features

Patients with MMP2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Rarely - Less than 30% cases

  • Antinuclear antibody positivity
  • Ankylosis
  • Ankle contracture
  • Arthropathy
  • Generalized hypertrichosis
  • Narrow nasal bridge
  • Abnormality of the thyroid gland
  • Abnormality of the ear

And 65 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to MMP2 gene

Here you will find a list of rare diseases related to the MMP2. 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

SOURCES: MESH ORPHANET

NODULOSIS-ARTHROPATHY-OSTEOLYSIS SYNDROME


Alternate names

NODULOSIS-ARTHROPATHY-OSTEOLYSIS SYNDROME Is also known as multicentric osteolysis-nodulosis-arthropathy syndrome, nao syndrome


More info about NODULOSIS-ARTHROPATHY-OSTEOLYSIS SYNDROME

SOURCES: ORPHANET

TORG-WINCHESTER SYNDROME


Alternate names

TORG-WINCHESTER SYNDROME Is also known as winchester syndrome


More info about TORG-WINCHESTER SYNDROME

SOURCES: ORPHANET

MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA


Alternate names

MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA Is also known as osteolysis, hereditary multicentric, torg syndrome, al-aqeel sewairi syndrome, nodulosis-arthropathy-osteolysis syndrome, torg-winchester syndrome, formerly, nao syndrome

Description

Zankl et al. (2007) defined what they considered to be a continuous clinical spectrum involving Torg syndrome, Winchester syndrome (OMIM ), and NAO syndrome. Torg syndrome is characterized by the presence of multiple, painless, subcutaneous nodules and mild to moderate osteoporosis and osteolysis that is usually limited to the hands and feet. Radiographically, the osteolysis is accompanied by a characteristic widening of the metacarpal and metatarsal bones. Winchester syndrome presents with severe osteolysis in the hands and feet and generalized osteoporosis and bone thinning, similar to NAO, but subcutaneous nodules are characteristically absent. Various additional features including coarse face, corneal opacities, gum hypertrophy, and EKG changes have been reported. NAO syndrome, which has only been described in patients from Saudi Arabia, is generally more severe, with multiple prominent and painful subcutaneous nodules, massive osteolysis in the hands and feet, and generalized osteoporosis. Coarse face and body hirsutism are additional features.

Most common symptoms of MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Cataract


More info about MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA

SOURCES: ORPHANET OMIM


Potential gene panels for MMP2 gene

MMP2 - Torg Winchester syndrome Panel

Switzerland.

By Centre of Molecular Diseases (CMM) CHUV

This panel specifically test the MMP2 gene.

More info about this panel

Multicentric osteolysis, nodulosis and arthropathy (sequence analysis MMP2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the MMP2 gene.

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

Osteogenesis imperfecta and osteoporosis - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Osteogenesis imperfecta and osteoporosis - different panels that also includes the following genes: BMP1 SEC24D SPARC WNT1 SERPINH1 IFITM5 SP7 FKBP10 CREB3L1 P3H1

More info about this panel

Multicentric osteolysis, nodulosis, and arthropathy Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the MMP2 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

MMP2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MMP2 gene.

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

Osteolysis and Related Disorders , Panel Massive Sequencing (NGS) 6 Genes Panel

Spain.

By Reference Laboratory Genetics Osteolysis and Related Disorders , Panel Massive Sequencing (NGS) 6 Genes that also includes the following genes: SQSTM1 TNFRSF11A TYROBP BANF1 TREM2 MMP2

More info about this panel

Multicentric Osteolysis Nodulosis and Arthropathy: gene sequencing Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the MMP2 gene.

More info about this panel


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