GeneHealth - Your precision medicine

Osteogenesis Imperfecta Type 14

Disease Details

Family Health Simplified

Buy Membership

Description: Osteogenesis imperfecta type 14 is a rare genetic disorder characterized by fragile bones that break easily, often with little or no apparent cause, due to mutations in the TMEM38B gene.
Type: Osteogenesis imperfecta type 14 is transmitted in an autosomal recessive manner.
Signs And Symptoms: Signs and symptoms of osteogenesis imperfecta type 14 include:

- Frequent bone fractures, often with minimal or no trauma
- Bone deformities and short stature
- Blue or gray sclerae (the whites of the eyes)
- Hearing loss starting in childhood or early adulthood
- Dental issues such as brittle teeth (dentinogenesis imperfecta)
- Joint hypermobility and muscle weakness

Please specify what "nan" refers to, or if there's another aspect you need information on.
Prognosis: Osteogenesis imperfecta type 14 is a rare genetic disorder characterized by brittle bones that are prone to fractures. The severity of symptoms can vary significantly among individuals. Some may experience frequent fractures, bone deformities, and growth issues, while others might have milder manifestations. The prognosis for individuals with osteogenesis imperfecta type 14 depends largely on the severity of the symptoms and the effectiveness of the management strategies in place. Generally, with appropriate medical care, physical therapy, and lifestyle adjustments, individuals can lead active lives, although they may face challenges related to mobility and chronic pain.
Onset: Osteogenesis imperfecta type 14 typically has a prenatal onset, meaning symptoms can be present before birth. This is a rare genetic disorder characterized by bones that break easily, often with little or no apparent cause.
Prevalence: The prevalence of osteogenesis imperfecta type 14 is extremely rare. Specific prevalence data for this subtype is not well-documented due to its rarity and the limited number of reported cases.
Epidemiology: Osteogenesis imperfecta type 14 is an extremely rare subtype of osteogenesis imperfecta (OI), a genetic disorder characterized by brittle bones that are prone to fracture. Specific epidemiological data for OI type 14 are not readily available due to its rarity. It is known to be caused by mutations in the TMEM38B gene, which codes for a protein involved in calcium ion transport necessary for bone mineralization.

Given the scarcity of cases, comprehensive demographic details, prevalence, and incidence rates for OI type 14 are not well-established. The condition is usually diagnosed through clinical assessment, family history, and genetic testing. Studies and case reports on this subtype are limited, which constrains a full understanding of its epidemiology.
Intractability: Osteogenesis imperfecta type 14 is a genetic disorder characterized by fragile bones that break easily, among other symptoms. It is caused by mutations in specific genes involved in collagen production. The condition is considered intractable because there is currently no cure. However, treatment can manage symptoms and improve quality of life. Management typically involves a multidisciplinary approach including medications like bisphosphonates, physical therapy, surgical interventions to correct bone deformities, and lifestyle modifications to prevent fractures.
Disease Severity: Osteogenesis imperfecta type 14 is characterized by variable disease severity, ranging from mild to severe forms. The severity can include frequent bone fractures, bone deformities, and growth deficiencies, reflecting the clinical diversity of this type of osteogenesis imperfecta.
Healthcare Professionals: Disease Ontology ID - DOID:0110343
Pathophysiology: Osteogenesis imperfecta type 14 is a rare genetic disorder characterized by brittle bones that are prone to fractures. The underlying pathophysiology involves mutations in the TMEM38B gene, which encodes for the protein trimeric intracellular cation channel type B (TRIC-B). This protein is essential for proper calcium ion transit within cells, particularly in osteoblasts, the cells responsible for bone formation. The mutations impair calcium signaling and disrupt normal bone mineralization, leading to the characteristic bone fragility seen in the disorder.
Carrier Status: Osteogenesis imperfecta type 14 is a genetic disorder typically inherited in an autosomal recessive manner. In this form of inheritance, both parents must be carriers of the mutated gene, and carriers themselves usually do not show symptoms. Their carrier status can be identified through genetic testing.
Mechanism: Osteogenesis imperfecta (OI) type 14 is a rare genetic disorder characterized mainly by fragile bones that break easily, often with little or no apparent cause. The mechanism underlying OI type 14 involves mutations in the TMEM38B gene, which encodes trimeric intracellular cation channel type B (TRIC-B).

**Molecular Mechanisms:**
1. **TMEM38B Mutations**: Mutations in the TMEM38B gene disrupt the normal function of TRIC-B. This channel plays a crucial role in calcium release from the sarcoplasmic and endoplasmic reticulum, which is vital for various cellular processes, including skeletal development and maintenance.
2. **Calcium Homeostasis**: The impairment of TRIC-B affects calcium signaling pathways within bone cells (osteoblasts and osteoclasts), leading to defects in bone mineralization and structure, making bones more susceptible to fractures.
3. **Collagen Production**: Although the mutations primarily affect calcium channels, they secondarily impact the production and quality of collagen, a key structural component of bone. Aberrant collagen synthesis contributes to the overall fragility associated with the disease.

This combination of disrupted calcium homeostasis and impaired collagen production underlies the clinical manifestations observed in OI type 14.
Treatment: Osteogenesis Imperfecta Type 14 is a rare genetic disorder characterized by fragile bones that break easily, often with little or no apparent cause. Treatment for this condition primarily focuses on managing symptoms and improving quality of life. Key components of treatment include:

1. **Medications**: Bisphosphonates, like pamidronate or zoledronic acid, can help increase bone density and reduce fracture risk.
2. **Physical Therapy**: Regular exercise to strengthen muscles and improve mobility, although care must be taken to avoid injuries.
3. **Surgical Interventions**: Procedures such as rodding surgeries to insert metal rods can help stabilize and strengthen bones.
4. **Assistive Devices**: Braces, wheelchairs, or other mobility aids can help individuals move around safely.
5. **Nutritional Support**: Adequate intake of calcium and vitamin D is important for bone health.
6. **Genetic Counseling**: Useful for affected individuals and their families to understand the condition and its inheritance patterns.

There currently is no cure for Osteogenesis Imperfecta Type 14, so treatment focuses on symptom management and supporting an individual's ability to lead a normal life.
Compassionate Use Treatment: Osteogenesis imperfecta type 14 is a rare genetic disorder characterized by brittle bones and other connective tissue issues. As a rare condition, treatment options can be limited and may sometimes involve compassionate use, off-label, or experimental treatments. Some potential approaches include:

1. **Bisphosphonates**: While not specific to type 14, these drugs are commonly used to increase bone density and reduce fracture risk in osteogenesis imperfecta patients.

2. **Teriparatide**: Although primarily used for osteoporosis, teriparatide has been explored off-label for osteogenesis imperfecta to stimulate bone formation.

3. **Bone Marrow Transplantation**: Experimental treatments involving bone marrow transplantation have been investigated to possibly improve bone strength and reduce fracture rates.

4. **Gene Therapy**: Still largely experimental, gene therapy aims to correct the underlying genetic defect causing the disorder.

5. **Stem Cell Therapy**: Research is ongoing into the potential for stem cell therapy to treat osteogenesis imperfecta by promoting healthier bone tissue growth.

Consultation with a specialist in genetic disorders and participation in clinical trials could provide access to experimental treatments that might not be widely available.
Lifestyle Recommendations: For individuals with Osteogenesis Imperfecta Type 14, here are some general lifestyle recommendations:

1. **Regular Medical Check-ups**: Regular visits to healthcare providers to monitor bone health and manage any complications.
2. **Physical Therapy**: Engage in physical therapy to strengthen muscles and improve mobility, while being mindful of bone fragility.
3. **Safe Physical Activity**: Participate in low-impact exercises such as swimming to enhance fitness without putting excessive stress on bones.
4. **Proper Nutrition**: Maintain a balanced diet rich in calcium and vitamin D to support bone health.
5. **Fall Prevention**: Implement home safety measures like non-slip mats, grab bars, and proper lighting to reduce the risk of falls.
6. **Assistive Devices**: Use mobility aids such as braces, crutches, or wheelchairs as recommended by healthcare providers to enhance mobility and prevent fractures.
7. **Healthy Weight**: Maintain a healthy weight to avoid additional stress on bones and joints.
8. **Avoid Smoking and Alcohol**: Avoid smoking and limit alcohol consumption as these can negatively affect bone health.

Each individual's needs may vary, so it is important to tailor these recommendations with the guidance of healthcare professionals.
Medication: Osteogenesis imperfecta type 14 is a rare genetic disorder characterized by fragile bones that break easily, usually due to mutations in the TMEM38B gene. Treatment is generally aimed at managing symptoms and reducing fracture risk. Medications may include:

1. Bisphosphonates: These drugs, such as pamidronate or zoledronic acid, help increase bone density and reduce fracture risk.
2. Vitamin D and calcium supplements: These can support bone health.
3. Growth hormone therapy: In some cases, to improve growth and bone density.

Always consult with a healthcare professional for tailored treatment plans.
Repurposable Drugs: Osteogenesis imperfecta type 14 (OI type 14) is a rare genetic disorder characterized by brittle bones and other connective tissue problems. There are currently no specific repurposable drugs approved for this condition. Treatment typically focuses on managing symptoms and may include bisphosphonates to strengthen bones, physical therapy, and surgical interventions. Researchers are continually exploring potential therapies, but none are widely accepted or proven specifically for OI type 14 as of now.
Metabolites: Osteogenesis imperfecta (OI) type 14 is primarily characterized by mutations in the TMEM38B gene. This gene is involved in the regulation of intracellular calcium, which is essential for bone mineralization and strength. While specific ancillary metabolites directly linked to OI type 14 are not well-documented, disruptions in calcium homeostasis and possibly other bone matrix-related metabolites can be inferred. Given the genetic basis of the disease, targeted genomic and biochemical studies are essential to elucidate the precise metabolic alterations involved.
Nutraceuticals: Osteogenesis imperfecta type 14 is a rare genetic disorder characterized by fragile bones. While there's no specific nutraceutical regimen exclusively for this type, general recommendations for osteogenesis imperfecta may include supplements like:

1. **Calcium**: Essential for bone strength.
2. **Vitamin D**: Crucial for calcium absorption and bone health.
3. **Magnesium**: Supports bone structure.
4. **Omega-3 fatty acids**: May help with inflammation and overall bone health.

These should be considered as supportive measures and not as a substitute for medical treatments prescribed by a healthcare provider.
Peptides: Osteogenesis imperfecta type 14 (OI type XIV) is a genetic disorder characterized by brittle bones that are prone to fractures. This specific type of OI is linked to mutations in the TMEM38B gene.

Peptides are short chains of amino acids, and while they are not the primary focus in the treatment of OI type XIV, they can play a role in understanding protein interactions and signaling pathways involved in bone formation. Research into peptides might help in developing therapeutic approaches or supplements to support bone health.

Nanotechnology (nan) refers to the use of materials and devices on an atomic or molecular scale. In the context of OI type XIV, nanotechnology could be explored for developing novel drug delivery systems, bone repair materials, or diagnostic tools to manage the condition more effectively. For example, nanoparticles might be used to deliver drugs targeting bone strength directly to the affected areas, potentially offering more effective and localized treatment options.