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Osteogenesis Imperfecta Type 11

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Description: Osteogenesis imperfecta type 11 (OI11) is a rare genetic disorder characterized by brittle bones that break easily, as well as other connective tissue manifestations, resulting from mutations in the FKBP10 gene.

One-sentence description: Osteogenesis imperfecta type 11 is a genetic disorder marked by fragile bones and connective tissue abnormalities due to FKBP10 gene mutations.
Type: Osteogenesis imperfecta type 11 is an autosomal recessive disorder.
Signs And Symptoms: Osteogenesis Imperfecta Type 11 (OI Type XI) is a rare genetic bone disorder characterized by the following signs and symptoms:

- Bone fragility resulting in frequent fractures
- Short stature
- Blue sclerae (blue tint to the whites of the eyes)
- Progressive hearing loss
- Dentinogenesis imperfecta (defective tooth development)
- Joint hypermobility and chronic pain
- Bowing of the long bones
- Scoliosis (curvature of the spine)
- Triangular face shape

The severity of these symptoms can vary widely among individuals.
Prognosis: The prognosis for osteogenesis imperfecta type 11, a rare and severe form of osteogenesis imperfecta, can vary significantly depending on the severity of the disease. Individuals with this condition typically experience multiple fractures, bone deformities, and other complications from a young age. Management involves a multidisciplinary approach including orthopedic interventions, physical therapy, and pain management. Lifespan and quality of life can be impacted; however, advances in medical care are improving outcomes.
Onset: Osteogenesis imperfecta type 11 typically has an onset during infancy or early childhood.
Prevalence: The prevalence of Osteogenesis Imperfecta Type 11 has not been precisely determined, and specific data is not available (nan).
Epidemiology: Osteogenesis imperfecta type 11 (OI type 11) is a rare genetic disorder characterized by brittle bones and skeletal abnormalities. The exact prevalence is not well-documented due to its rarity, but it is considered an uncommon subtype of osteogenesis imperfecta within the diverse spectrum of OI types. Like other forms of osteogenesis imperfecta, type 11 is inherited in an autosomal recessive manner.
Intractability: Osteogenesis imperfecta type 11 (OI type 11) is considered intractable in the sense that there is no cure for the underlying genetic disorder. Management primarily focuses on symptom relief, improving the quality of life, and preventing complications. Treatment strategies may include physical therapy, surgical interventions, and medications to strengthen bones or manage pain. However, the disease remains chronic and requires ongoing care.
Disease Severity: Osteogenesis imperfecta type 11 (OI type 11) is generally considered to be a moderate to severe form of the disease. The severity can vary greatly among individuals.
Healthcare Professionals: Disease Ontology ID - DOID:0110351
Pathophysiology: Osteogenesis imperfecta type 11 (OI type 11) is a rare genetic disorder caused by mutations in the FKBP10 gene. This gene encodes for the protein FKBP65, which is essential for proper collagen folding. The pathophysiology involves impaired collagen maturation, leading to defects in the extracellular matrix. As a result, bones become brittle and prone to fractures. The disease also affects other collagen-rich tissues, causing additional symptoms such as joint hypermobility, skin abnormalities, and dental issues.
Carrier Status: Osteogenesis Imperfecta Type 11 is a rare genetic disorder caused by mutations in the FKBP10 gene. Carrier status for this disease would typically involve an individual who has one mutated copy of the FKBP10 gene but does not exhibit symptoms. If you need information about "nan" (which might be a typo or abbreviation that needs clarification), please provide more details.
Mechanism: Osteogenesis imperfecta type 11 (OI type 11) is a genetic disorder characterized by brittle bones that are prone to fractures. The mechanism underlying OI type 11 involves mutations in the gene FKBP10.

**Molecular Mechanisms:**

1. **Mutations in FKBP10**: FKBP10 encodes an endoplasmic reticulum-resident peptidyl-prolyl cis-trans isomerase (PPIase), which assists in the proper folding of type I collagen. Mutations in FKBP10 disrupt its normal function.

2. **Collagen Modification**: FKBP10 is essential for post-translational modification of collagen. Dysfunctional FKBP10 affects collagen folding and stability, leading to defective collagen production.

3. **Extracellular Matrix Defects**: Properly formed collagen is crucial for the integrity and strength of connective tissues. Defective collagen results in weakened bone matrix, leading to the characteristic brittle bones seen in OI type 11.

These molecular disruptions culminate in the clinical manifestation of increased bone fragility and other connective tissue abnormalities typical of OI type 11.
Treatment: Osteogenesis imperfecta type 11 is a rare form of a genetic disorder characterized by fragile bones. Treatment focuses on managing symptoms and may include:

1. **Bisphosphonates**: Medications to strengthen bones.
2. **Physical Therapy**: To improve mobility and muscle strength.
3. **Orthopedic Interventions**: Surgical procedures, such as rodding, to support and stabilize bones.
4. **Pain Management**: Medications or techniques to relieve pain.
5. **Healthy Lifestyle**: Adequate nutrition, particularly calcium and vitamin D, and avoiding activities that increase fracture risk.
Compassionate Use Treatment: Osteogenesis imperfecta type 11 (OI type 11) is a rare and severe form of osteogenesis imperfecta, primarily caused by mutations in the FKBP10 gene. Compassionate use and experimental treatments for OI type 11 may include:

1. **Bisphosphonates**: Typically used to increase bone density and reduce fracture rates, although not specifically approved for OI type 11, they are commonly used off-label for various OI types.

2. **Teriparatide**: An anabolic agent, teriparatide may be considered for off-label use to stimulate bone formation, though more research is needed for its efficacy in OI type 11.

3. **Gene Therapy**: Still in experimental stages, gene therapy aims to correct the underlying genetic defect responsible for OI.

4. **Stem Cell Therapy**: Early-stage research is exploring the potential for stem cell transplantation to improve bone quality and reduce fractures.

5. **Enzyme Replacement Therapy (ERT)**: For forms of OI linked to enzyme deficiencies, ERT is being investigated as a potential treatment option.

6. **Bone Marrow Transplantation**: In highly experimental contexts, bone marrow transplantation has been considered to introduce healthy progenitor cells that might improve bone formation.

Consult with a medical professional specializing in genetic disorders or osteogenesis imperfecta for the most current and personalized treatment options.
Lifestyle Recommendations: For Osteogenesis Imperfecta Type 11 (OI Type 11), lifestyle recommendations typically focus on preventing fractures and maintaining overall health. Here are some general suggestions:

1. **Physical Activity**: Engage in low-impact exercises like swimming or walking to improve muscle strength and coordination while minimizing fracture risk.
2. **Diet**: Ensure a balanced diet rich in calcium and vitamin D to support bone health. Consult a nutritionist if needed.
3. **Fall Prevention**: Make home environments safe by removing tripping hazards and using assistive devices if necessary.
4. **Regular Medical Follow-Up**: Keep regular appointments with healthcare providers to monitor bone health and manage any complications.
5. **Pain Management**: Work with healthcare providers to manage pain effectively, possibly through physical therapy or approved medications.
6. **Avoid High-Risk Activities**: Refrain from high-impact sports and activities that increase the risk of fractures.
7. **Weight Management**: Maintain a healthy weight to reduce stress on bones and joints.
8. **Custom Orthotics**: Consider custom shoes or braces to support weak bones and joints.

It's essential to tailor these recommendations to individual needs in consultation with healthcare providers.
Medication: Osteogenesis imperfecta type 11 (OI type 11) is a rare genetic disorder characterized by brittle bones and other connective tissue defects. There is currently no specific medication that targets OI type 11 directly. Management often involves a multidisciplinary approach including:

1. **Bisphosphonates:** These medications help increase bone density and reduce fracture risk.
2. **Calcium and Vitamin D supplements:** To support bone health.
3. **Physical therapy and occupational therapy:** To improve mobility and strengthen muscles.
4. **Surgical interventions:** For fracture repair and correction of bone deformities.
5. **Pain management:** Through medications and other therapies.

Regular monitoring by specialists is crucial to address the various complications and improve the quality of life for individuals with OI type 11.
Repurposable Drugs: Osteogenesis imperfecta type 11 is a genetic disorder characterized by brittle bones. Currently, no specific repurposable drugs are widely recognized for treating this exact subtype. Management typically focuses on supportive therapies such as bisphosphonates to increase bone density, pain management, physical therapy, and mobility aids. Research is ongoing to identify potential treatments, including gene therapies and small molecules that target the underlying genetic defects.
Metabolites: Osteogenesis imperfecta type 11 (OI type 11) is a rare genetic disorder characterized by brittle bones that are more prone to fractures and deformities. In the context of OI type 11, metabolites that are notably involved include those related to collagen synthesis and bone mineral metabolism. Specific abnormalities may be seen in the metabolites associated with the LEPRE1 gene mutation, which is implicated in OI type 11. Consequently, disruptions in post-translational modification of collagen, such as hydroxylation, are typical metabolic findings.
Nutraceuticals: For osteogenesis imperfecta type 11, there is limited specific information available regarding the efficacy of nutraceuticals. Management typically focuses on comprehensive medical care, including physical therapy, medications to increase bone density, and sometimes surgical interventions to manage fractures and bone deformities. Nutraceuticals such as calcium, vitamin D, and other bone health supplements may be recommended to support overall bone health, but their direct impact on this specific type of osteogenesis imperfecta needs further research. Always consult a healthcare provider for personalized guidance.
Peptides: Osteogenesis imperfecta type 11 (OI type 11) is a rare genetic disorder characterized by brittle bones that are prone to fractures. It is caused by mutations in the FKBP10 gene, which is important for proper collagen formation. As a result, collagen, a key structural protein in bones and connective tissues, is improperly formed, leading to weak bones and other symptoms like joint hypermobility and growth deficiencies.

Peptides in this context refer to shorter chains of amino acids that can play various roles in biological functions, including signaling and structural roles in the body. In relation to OI type 11, peptide-based therapies might be studied to correct or mitigate the defective collagen production.

Nan refers to nanotechnology, which in the context of osteogenesis imperfecta, could involve the use of nanoscale materials to deliver drugs, improve bone strength, or enhance the delivery of gene-editing tools with more precision and efficiency. This is an area of ongoing research with the potential to provide innovative treatments for genetic disorders like OI type 11.