Osteogenesis Imperfecta Type 17
Disease Details
Family Health Simplified
- Description
- Osteogenesis imperfecta type 17 is a rare genetic disorder characterized by bone fragility, recurrent fractures, and skeletal deformities resulting from a mutation in the SPARC gene.
- Type
- Osteogenesis imperfecta type 17 is typically transmitted in an autosomal recessive manner.
- Signs And Symptoms
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Osteogenesis imperfecta type 17 is a rare genetic disorder characterized by brittle bones and a propensity for fractures. Specific signs and symptoms may include:
- Frequent bone fractures with minimal or no trauma
- Bone deformities
- Short stature
- Blue sclera (a bluish tint to the whites of the eyes)
- Hearing loss
- Dental issues, such as brittle teeth (dentinogenesis imperfecta)
- Joint hypermobility or laxity
It's important for individuals with osteogenesis imperfecta type 17 to receive appropriate medical care to manage symptoms and improve quality of life. - Prognosis
- Osteogenesis imperfecta type 17 is a rare genetic disorder characterized by brittle bones and other connective tissue abnormalities. The prognosis for individuals with type 17 can vary widely based on the severity of the condition. Some patients may experience frequent fractures and have significant physical disabilities, while others might have a milder course. Lifelong medical management and supportive therapies can help improve the quality of life, but there is currently no cure.
- Onset
- Osteogenesis imperfecta type 17 (OI type 17) is typically apparent from birth or early infancy. Symptoms may include frequent bone fractures, growth deficiencies, and skeletal deformities.
- Prevalence
- The prevalence of osteogenesis imperfecta type 17 (OI type 17) is extremely rare, and specific data on the number of cases is not well-documented.
- Epidemiology
- Osteogenesis imperfecta type 17 (OI type 17) is an extremely rare form of osteogenesis imperfecta, caused by mutations in the SPARC gene. Epidemiological data for this particular subtype is insufficient due to its rarity, and precise prevalence and incidence rates are not well-documented in the scientific literature. The disease is inherited in an autosomal recessive manner, and detailed epidemiological studies specific to OI type 17 are generally not available due to the extremely small number of reported cases.
- Intractability
- Osteogenesis imperfecta type 17 is considered intractable. It is a genetic disorder characterized by brittle bones, and, like other types of osteogenesis imperfecta, it does not currently have a cure. Management typically focuses on mitigating symptoms and improving quality of life through measures such as physical therapy, surgical interventions, and bisphosphonate treatment.
- Disease Severity
- Osteogenesis imperfecta type 17 generally presents with moderate to severe disease severity. This type involves mutations in the SPARC gene and is characterized by fragile bones that can fracture easily, skeletal deformities, and growth deficiencies. The severity can vary among individuals, but it typically includes significant skeletal complications and potential mobility issues.
- Healthcare Professionals
- Disease Ontology ID - DOID:0110338
- Pathophysiology
- Osteogenesis imperfecta type 17 is a genetic disorder caused by mutations in the SPARC gene. The SPARC gene encodes a protein called osteonectin, which is involved in bone mineralization and collagen binding. Mutations in SPARC disrupt normal bone formation, leading to brittle bones that fracture easily, a hallmark of osteogenesis imperfecta. This condition is typically inherited in an autosomal recessive pattern. Key symptoms include frequent bone fractures, skeletal deformities, and, often, short stature due to impaired bone growth.
- Carrier Status
- Osteogenesis imperfecta type 17 (OI type 17) is a rare genetic disorder characterized by fragile bones that break easily. It follows an autosomal recessive pattern of inheritance. Carrier status for OI type 17 means an individual has one copy of the mutated gene but does not usually exhibit symptoms of the disease. Carriers can pass the mutated gene to their offspring, and if both parents are carriers, there is a 25% chance with each pregnancy that their child will inherit both mutated genes and present with the condition.
- Mechanism
- Osteogenesis imperfecta type 17 is primarily associated with defects in the SPARC gene. The molecular mechanism involves mutations in this gene, which encodes a protein called Osteonectin or SPARC (Secreted Protein Acidic and Rich in Cysteine). SPARC plays a critical role in bone matrix mineralization and collagen binding. Mutations in the SPARC gene lead to dysfunctional protein production, thereby impairing collagen fibrillogenesis and bone mineralization. This results in the clinical manifestations of brittle bones and frequent fractures characteristic of osteogenesis imperfecta type 17.
- Treatment
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Osteogenesis imperfecta type 17 is a rare genetic disorder characterized by fragile bones that break easily. Treatment primarily focuses on managing symptoms and preventing fractures. This may include:
- Physical therapy to strengthen muscles and improve mobility.
- Orthopedic interventions, such as the use of rods to stabilize bones.
- Bisphosphonates to increase bone density.
- Pain management with medications.
- Occupational therapy to assist with daily activities.
Ongoing medical supervision is essential to tailor the treatment plan to individual needs. - Compassionate Use Treatment
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Osteogenesis imperfecta type 17 is a rare genetic disorder characterized by brittle bones and other connective tissue abnormalities. For compassionate use treatment, off-label, or experimental treatments, there are several approaches being considered or tried, despite the lack of extensive clinical trials:
1. **Bisphosphonates**: These drugs are commonly used off-label to increase bone density and reduce fracture rates. Examples include pamidronate and zoledronic acid.
2. **Teriparatide**: This is a parathyroid hormone analog that is used off-label to stimulate bone formation.
3. **Stem Cell Therapy**: Experimental treatment involving mesenchymal stem cells (MSCs) aims to differentiate into osteoblasts and improve bone formation.
4. **Gene Therapy**: Research is ongoing to correct the underlying genetic defect in osteogenesis imperfecta. Although still experimental, it holds promise for future treatments.
5. **Bone Marrow Transplant**: Another experimental approach, aiming to introduce healthy osteoblasts that can produce normal collagen.
6. **Orthopedic Interventions**: Surgical procedures, such as rodding, to stabilize and straighten bones, although not a cure, can significantly improve quality of life.
Always consult with a healthcare professional to understand the best available treatments and clinical trials for specific cases. - Lifestyle Recommendations
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For Osteogenesis Imperfecta Type 17, lifestyle recommendations focus on maximizing bone health and minimizing fracture risk. Key recommendations include:
1. **Regular Monitoring and Medical Follow-Up**: Regular visits to healthcare providers specializing in bone health to monitor the condition and adjust treatments as needed.
2. **Diet and Nutrition**: Ensure a diet rich in calcium and vitamin D to support bone health. Supplements may be recommended if dietary intake is insufficient.
3. **Physical Therapy and Exercise**: Engage in low-impact, weight-bearing exercises like swimming or walking to strengthen muscles and improve coordination without putting excessive stress on the bones.
4. **Avoid High-Risk Activities**: Refrain from high-impact or high-risk activities that could lead to fractures.
5. **Adaptive Devices**: Use mobility aids, braces, or other adaptive devices as recommended to help prevent falls and manage mobility.
6. **Home Modifications**: Modify the living environment to reduce the risk of falls, such as installing grab bars, securing loose rugs, and ensuring adequate lighting.
7. **Education and Awareness**: Educate family members, caregivers, and teachers about the condition to ensure supportive and safe environments both at home and in educational settings.
8. **Pain Management**: Work with healthcare providers to manage pain effectively, which may include medications as well as non-pharmacological approaches like physical therapy.
Adhering to these guidelines can help individuals with Osteogenesis Imperfecta Type 17 lead healthier and safer lives. - Medication
- There is currently no specific medication for osteogenesis imperfecta type 17. Management typically focuses on supportive care measures, which may include physical therapy, surgical interventions for fracture repair, and other treatments to improve bone strength and overall quality of life. Bisphosphonates are sometimes used to increase bone density in osteogenesis imperfecta, though their effectiveness specifically for type 17 is not well-documented. Always consult a healthcare provider for personalized medical advice.
- Repurposable Drugs
- There are currently no known repurposable drugs specifically identified for the treatment of osteogenesis imperfecta type 17. This rare genetic disorder primarily affects bone strength and is caused by mutations in the SPARC gene. Management typically focuses on supportive care, including physical therapy, surgical interventions, and treatments to improve bone density, such as bisphosphonates. Further research may be needed to explore potential repurposable drugs for this specific type.
- Metabolites
- For osteogenesis imperfecta type 17, specific information regarding abnormal metabolites is not well-documented. Osteogenesis imperfecta (OI) generally involves defects in collagen production or structure. However, metabolic studies focusing exclusively on OI type 17 are limited. If you need detailed and specific data on metabolic changes, consulting recent and specialized scientific literature or metabolic databases might be necessary.
- Nutraceuticals
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Osteogenesis imperfecta type 17 (OI type 17) is a rare genetic disorder affecting the bone structure and strength. Currently, there is limited information on the role of nutraceuticals specifically tailored for OI type 17. In general, for osteogenesis imperfecta, maintaining bone health through adequate intake of nutrients such as calcium, vitamin D, and magnesium is crucial. Consultation with a healthcare provider for personalized management is recommended.
As of now, there are no nanotechnology-based treatments specifically approved for osteogenesis imperfecta type 17, but research is ongoing in the field of nanomedicine for various bone-related conditions. - Peptides
- Osteogenesis imperfecta type 17 (OI type 17) is a rare genetic disorder characterized by brittle bones that are prone to fractures. It is caused by mutations in the SPARC gene, which encodes the protein osteonectin, involved in bone matrix formation and mineralization. Currently, there is no specific peptide therapy for OI type 17. Treatment mainly focuses on managing symptoms and may include physical therapy, surgical interventions, and the use of bisphosphonates to strengthen bones. Research in peptide-based therapies and nanotechnology for OI is ongoing but not yet established for clinical use in OI type 17.