MMP14 gene related symptoms and diseases
All the information presented here about the MMP14 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 MMP14 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Short stature | Uncommon - Between 30% and 50% cases |
| Flexion contracture | Uncommon - Between 30% and 50% cases |
| Severe short stature | Uncommon - Between 30% and 50% cases |
| Osteoporosis | Uncommon - Between 30% and 50% cases |
| Coarse facial features | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with MMP14 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Arthritis
- Corneal opacity
- Subcutaneous nodule
- Gingival overgrowth
- Osteolysis
- Rheumatoid arthritis
- Arthropathy
- Generalized osteoporosis
And 2 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to MMP14 gene
Here you will find a list of rare diseases related to the MMP14. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
WINCHESTER SYNDROME; WNCHRS
Description
Winchester syndrome presents with severe osteolysis in the hands and feet and generalized osteoporosis and bone thinning, similar to multicentric osteolysis, nodulosis, and arthropathy (MONA ), but subcutaneous nodules are characteristically absent. Various additional features including coarse face, corneal opacities, gum hypertrophy, and EKG changes have been reported (summary by Zankl et al., 2007).
Most common symptoms of WINCHESTER SYNDROME; WNCHRS
- Short stature
- Flexion contracture
- Severe short stature
- Osteoporosis
- Coarse facial features
More info about WINCHESTER SYNDROME; WNCHRS
SOURCES: OMIM
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
Search interest in MMP14
Potential gene panels for MMP14 gene
Winchester Syndrome (sequence analysis of MMP14 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the MMP14 gene.
More info about this panel Portugal.
Winchester Syndrome Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the MMP14 gene.
More info about this panel Germany.
MMP14 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the MMP14 gene.
More info about this panel United States.
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