10

Which are the causes of Multiple epiphyseal dysplasia?

See some of the causes of Multiple epiphyseal dysplasia according to people who have experience in Multiple epiphyseal dysplasia

Multiple epiphyseal dysplasia causes

Multiple epiphyseal dysplasia (MED) is a rare genetic disorder that affects the development of the bones and joints. It is characterized by abnormalities in the growth plates, which are the areas of cartilage at the ends of long bones that allow for bone growth. MED can lead to various skeletal abnormalities and joint problems, causing pain, stiffness, and limited mobility.



Causes:



The primary cause of Multiple epiphyseal dysplasia is mutations in certain genes that are involved in the development and maintenance of cartilage and bone. These mutations are typically inherited in an autosomal dominant manner, meaning that an affected individual has a 50% chance of passing the condition on to each of their children.



Several genes have been associated with MED, including COMP (cartilage oligomeric matrix protein), MATN3 (matrilin-3), COL9A1, COL9A2, and COL9A3 (collagen type IX alpha 1, 2, and 3). Mutations in these genes disrupt the normal structure and function of cartilage, leading to the characteristic features of MED.



COMP mutations are the most common cause of MED. The COMP gene provides instructions for producing a protein that is essential for the normal development and maintenance of cartilage. Mutations in this gene can result in the production of an abnormal COMP protein, which disrupts the formation of cartilage and its ability to withstand mechanical stress.



MATN3 mutations are another common cause of MED. The MATN3 gene provides instructions for producing matrilin-3, a protein that helps regulate the assembly and organization of cartilage. Mutations in this gene can lead to the production of an abnormal matrilin-3 protein, which affects the structure and function of cartilage in the growth plates.



COL9A1, COL9A2, and COL9A3 mutations are less common causes of MED. These genes provide instructions for producing collagen type IX alpha chains, which are essential components of the extracellular matrix in cartilage. Mutations in these genes can disrupt the assembly and stability of collagen type IX, impairing the structure and function of cartilage.



It is important to note that not all individuals with MED have identifiable mutations in these known genes, suggesting that there may be additional genetic causes yet to be discovered.



Conclusion:



Multiple epiphyseal dysplasia is primarily caused by mutations in genes involved in cartilage and bone development. These mutations disrupt the normal structure and function of cartilage, leading to the characteristic skeletal abnormalities and joint problems seen in individuals with MED. The identification of specific genes associated with MED has improved our understanding of the condition and may contribute to the development of targeted treatments in the future.


Diseasemaps
5 answers
M.E.D. comes in dominant and recessive forms, meaning it's genetic! I personally have the recessive form. While neither of my parents have the condition, they both happened to carry the recessive gene. My brother did not get the disease, but I did; Meaning just because both parents carry the gene doesn't mean it is 100% certain it will be inherited.

Posted Mar 4, 2017 by Sarah 2000
Genetics

Posted Mar 5, 2017 by Chloe_MED 820
both parents have the gene.

Posted Dec 14, 2017 by Annalise 900
Translated from portuguese Improve translation
Genetic origin, with change in some of the genes

Posted Nov 19, 2017 by Daniela Corrêa De 2500

Multiple epiphyseal dysplasia causes

Multiple epiphyseal dysplasia life expectancy

What is the life expectancy of someone with Multiple epiphyseal dysplasia?

5 answers
Celebrities with Multiple epiphyseal dysplasia

Celebrities with Multiple epiphyseal dysplasia

1 answer
Is Multiple epiphyseal dysplasia hereditary?

Is Multiple epiphyseal dysplasia hereditary?

3 answers
Is Multiple epiphyseal dysplasia contagious?

Is Multiple epiphyseal dysplasia contagious?

3 answers
Natural treatment of Multiple epiphyseal dysplasia

Is there any natural treatment for Multiple epiphyseal dysplasia?

2 answers
ICD9 and ICD10 codes of Multiple epiphyseal dysplasia

ICD10 code of Multiple epiphyseal dysplasia and ICD9 code

2 answers
Living with Multiple epiphyseal dysplasia

Living with Multiple epiphyseal dysplasia. How to live with Multiple epiphy...

5 answers
Multiple epiphyseal dysplasia diet

Multiple epiphyseal dysplasia diet. Is there a diet which improves the qual...

4 answers

World map of Multiple epiphyseal dysplasia

Find people with Multiple epiphyseal dysplasia through the map. Connect with them and share experiences. Join the Multiple epiphyseal dysplasia community.

Stories of Multiple epiphyseal dysplasia

MULTIPLE EPIPHYSEAL DYSPLASIA STORIES
Multiple epiphyseal dysplasia stories
- Agreements between Morquio and Med-Sed. Both are growth failure due to defects in the growth plates. The disease has a similar progress and problems. - Difference between Morquio and Med-Sed. Morquio is a metabolic disease and Med-Sed is genetical...
Multiple epiphyseal dysplasia stories
I was diagnosed at 9 months. I inherited MED from my mum, who has had 5 hip replacements and 2 shoulders. And is now awaiting a knee replacement. It's been very hard living with this, it causes pain everyday and I'm on a lot of pain meds. I have my h...

Tell your story and help others

Tell my story

Multiple epiphyseal dysplasia forum

MULTIPLE EPIPHYSEAL DYSPLASIA FORUM

Ask a question and get answers from other users.

Ask a question

Find your symptoms soulmates

From now on you can add your symptoms in diseasemaps and find your symptoms soulmates. Symptoms soulmates are people with similar symptoms to you.

Symptoms soulmates

Add your symptoms and discover your soulmates map

Soulmates map