MMP1 gene related symptoms and diseases

All the information presented here about the MMP1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to MMP1 gene

Symptoms // Phenotype % Cases
Flexion contracture Common - Between 50% and 80% cases
Narrow mouth Common - Between 50% and 80% cases
Hypoalbuminemia Uncommon - Between 30% and 50% cases
Ectropion Uncommon - Between 30% and 50% cases
Squamous cell carcinoma Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with MMP1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Malnutrition
  • Milia
  • Atrophic scars
  • Skin vesicle
  • Fragile skin
  • Blepharitis
  • Atypical scarring of skin
  • Corneal erosion

And 53 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to MMP1 gene

Here you will find a list of rare diseases related to the MMP1. 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

SEVERE GENERALIZED RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA


Alternate names

SEVERE GENERALIZED RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA Is also known as rdeb, hallopeau-siemens type, severe generalized rdeb, dystrophic epidermolysis bullosa, autosomal recessive, rdeb generalisata gravis, epidermolysis bullosa dystrophica, hallopeau-siemens type, rdeb-sev gen, autosomal recessive dystrophic epidermolysis bullosa

Description

Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement.

Most common symptoms of SEVERE GENERALIZED RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA

  • Growth delay
  • Neoplasm
  • Cataract
  • Anemia
  • Flexion contracture


More info about SEVERE GENERALIZED RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA

SOURCES: ORPHANET OMIM

PULMONARY DISEASE, CHRONIC OBSTRUCTIVE; COPD


Description

Chronic obstructive pulmonary disease (COPD) is a common, complex disorder associated with substantial morbidity and mortality. COPD is defined by irreversible airflow obstruction due to chronic bronchitis, emphysema, and/or small airways disease. Airflow obstruction is typically determined by reductions in quantitative spirometric indices, including forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (FVC) (Silverman et al., 2002; Celedon et al., 2004).

Most common symptoms of PULMONARY DISEASE, CHRONIC OBSTRUCTIVE; COPD

  • Asthma
  • Abnormal lung morphology
  • Emphysema
  • Bronchitis
  • Chronic lung disease


More info about PULMONARY DISEASE, CHRONIC OBSTRUCTIVE; COPD

SOURCES: OMIM


Potential gene panels for MMP1 gene

MMP1 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the MMP1 gene.

More info about this panel

Epidermolysis bullosa (NGS panel for 18 genes) Panel

Portugal.

By CGC Genetics Epidermolysis bullosa (NGS panel for 18 genes) that also includes the following genes: DST FERMT1 COL17A1 COL7A1 DSP EXPH5 ITGA3 ITGA6 ITGB4 KRT1

More info about this panel

Epidermolysis bullosa dystrophica (NGS panel for 2 genes) Panel

Portugal.

By CGC Genetics Epidermolysis bullosa dystrophica (NGS panel for 2 genes) that also includes the following genes: COL7A1 MMP1

More info about this panel

Epidermolysis bullosa panel Panel

Germany.

By Centogene AG - the Rare Disease Company Epidermolysis bullosa panel that also includes the following genes: DST TGM5 FERMT1 CHST8 COL17A1 COL7A1 CSTA DSG1 DSP EXPH5

More info about this panel

Genetic Epidermolyses and blistering disorders Panel Panel

Germany.

By CeGaT GmbH Genetic Epidermolyses and blistering disorders Panel that also includes the following genes: DST FERMT1 COL17A1 COL7A1 DSP EXPH5 ITGA3 ITGA6 ITGB4 KRT1

More info about this panel

Epidermolysis Bullosa NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Epidermolysis Bullosa NGS Panel that also includes the following genes: CD151 COL17A1 COL7A1 DSP ITGA3 ITGB4 KRT14 KRT5 LAMA3 LAMB3

More info about this panel

MMP1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MMP1 gene.

More info about this panel

EPIDERMOLISIS BULLOSA: NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL EPIDERMOLISIS BULLOSA: NGS PANEL that also includes the following genes: DST TGM5 FERMT1 COL17A1 COL7A1 KLHL24 DSP EXPH5 ITGA3 ITGA6

More info about this panel


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