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Kiaa0586-related Condition

Disease Details

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Description: KIAA0586-related condition, often associated with Joubert syndrome, involves mutations in the KIAA0586 gene, which plays a critical role in ciliary function and brain development.

One-sentence description: KIAA0586-related condition is a genetic disorder characterized by impaired ciliary function leading to brain malformations and developmental delays, commonly presenting as Joubert syndrome.
Type: KIAA0586-related condition refers to Joubert syndrome, type 23. This condition is inherited in an autosomal recessive manner.
Signs And Symptoms: KIAA0586-related conditions are linked to mutations in the KIAA0586 gene, which can lead to Joubert syndrome, a disorder affecting the cerebellum. Signs and symptoms often include:

1. Hypotonia (decreased muscle tone)
2. Ataxia (lack of muscle coordination)
3. Developmental delay
4. Abnormal eye movements
5. Breathing irregularities
6. Characteristic facial features (e.g., wide-set eyes, low-set ears)
7. Molar tooth sign on MRI (a specific brain malformation)

Given the variability, the presentation and severity can differ among individuals.
Prognosis: KIAA0586-related conditions, such as Joubert syndrome, are genetic disorders primarily affecting the cerebellum, resulting in motor and developmental delays. The prognosis varies significantly based on the severity of the symptoms and the presence of other health issues. Early intervention with therapies and supportive care can improve outcomes, but some individuals may have lifelong challenges.
Onset: The term "KIAA0586-related condition" typically refers to disorders associated with mutations in the KIAA0586 gene. One well-documented condition related to KIAA0586 mutations is Jeune syndrome, also known as asphyxiating thoracic dystrophy.

The onset of KIAA0586-related conditions such as Jeune syndrome usually occurs in infancy or early childhood, often identified through physical symptoms shortly after birth. Symptoms can include a small, narrow chest, short ribs, shortened limbs, and respiratory issues due to the restricted thoracic cavity.

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Prevalence: The prevalence of conditions related to the KIAA0586 gene, which is often associated with Joubert syndrome and related disorders (JSRD), is not well-documented in the broader population. Joubert syndrome is considered a rare disorder, with an estimated prevalence of around 1 in 80,000 to 1 in 100,000 live births. Specific prevalence rates for conditions solely attributed to mutations in the KIAA0586 gene are not readily available.
Epidemiology: The epidemiology of conditions related to the KIAA0586 gene, such as Joubert syndrome, is relatively rare. Joubert syndrome, a ciliopathy, has an estimated incidence of approximately 1 in 100,000 to 1 in 250,000 live births. These conditions often present with neurological symptoms, and the KIAA0586 gene is one of several genes associated with this syndrome. The exact prevalence may vary by population and geographic region.
Intractability: KIAA0586-related conditions, such as Joubert syndrome, can be complex and challenging to manage. While there is no cure for these genetic disorders, the degree of intractability can vary. Symptom management and supportive therapies can improve quality of life, but the effectiveness depends on the specific manifestations and the severity of the condition.
Disease Severity: The gene KIAA0586 is associated with Joubert syndrome, a rare genetic disorder. Joubert syndrome is characterized by developmental delay, intellectual disability, and abnormal eye and breathing movements. Disease severity varies widely among individuals, ranging from mild motor impairments to severe physical and intellectual disabilities. The variability in symptoms often depends on the specific mutations within the KIAA0586 gene and the presence of other genetic or environmental factors.
Pathophysiology: KIAA0586-related conditions, often associated with mutations in the KIAA0586 gene, typically disrupt cilia function, critical for many cellular processes. Mutations can cause ciliopathies, with Joubert syndrome being one prominent example, leading to issues in cell signaling and structural integrity, manifesting in a range of developmental and neurological symptoms.
Carrier Status: KIAA0586-related conditions are often associated with autosomal recessive inheritance. This means that a person needs to inherit two defective copies of the KIAA0586 gene, one from each parent, to be affected by the condition. Carriers, who have only one defective copy, typically do not show symptoms but can pass the gene to their offspring. Carrier screening and genetic counseling can provide more information about an individual's carrier status.
Mechanism: KIAA0586-related conditions are typically associated with Joubert syndrome and related disorders (JSRD). The KIAA0586 gene is essential for proper ciliogenesis; mutations in this gene disrupt normal ciliogenesis and ciliary function. This leads to malformations in the cerebellar vermis, which are central to the characteristic "molar tooth sign" seen in brain imaging of affected individuals.

**Mechanism:**
KIAA0586, also known as TALPID3, plays a crucial role in the development and functioning of the primary cilium, a microtubule-based organelle critical for cellular signaling and sensory activities.

**Molecular Mechanisms:**
1. **Centriole Biogenesis:** KIAA0586 is integral in centriolar satellite function and recruitment of core centriolar proteins, which are necessary for the formation of centrioles, precursors to the basal bodies that give rise to cilia.
2. **Ciliogenesis:** The protein encoded by KIAA0586 is involved in the early steps of ciliogenesis, specifically in the cartwheel structure formation, which is crucial for the assembly of cilia.
3. **Ciliary Function:** The primary cilia are essential in several signaling pathways, including Hedgehog signaling. Defects in ciliary function due to KIAA0586 mutations impair these pathways, leading to developmental anomalies typical in Joubert syndrome.

Mutations in KIAA0586 disrupt these processes, leading to dysfunctional cilia, and contribute to the pathology observed in JSRD, characterized by neurological symptoms, delayed development, and various organ system involvements.
Treatment: KIAA0586-related conditions are linked to mutations in the KIAA0586 gene, which is crucial for cilia function. One of the primary disorders associated with KIAA0586 mutations is Joubert syndrome, a rare genetic disorder that affects brain development.

**Treatment**: Currently, there is no cure for KIAA0586-related conditions or Joubert syndrome. Management primarily focuses on addressing symptoms and improving quality of life. Treatment strategies may include:

1. **Neurological and Developmental Support**: Physical therapy, occupational therapy, and speech therapy to assist with motor skills, coordination, and communication.

2. **Medical Interventions**: Regular monitoring by a neurologist, ophthalmologist, and other specialists as needed for associated symptoms such as vision problems, kidney issues, or liver disease.

3. **Supportive Therapies**: Educational interventions and individualized education plans to help with learning difficulties.

4. **Genetic Counseling**: Providing information and support to affected individuals and their families about the genetic nature of the disorder and potential implications for family planning.

These approaches aim to manage symptoms and support developmental progress rather than treating the underlying genetic cause.
Compassionate Use Treatment: KIAA0586-related conditions often fall under ciliopathies, a group of genetic disorders caused by defects in the function or structure of cilia. Given the rarity and complexity of these conditions, there are limited established therapeutic options.

**Compassionate Use Treatment:**
Compassionate use, also known as expanded access, may be considered for patients with life-threatening conditions who have exhausted all available treatment options. For KIAA0586-related conditions, this could include access to experimental drugs or therapies that are in clinical trials but not yet approved for general use.

**Off-label or Experimental Treatments:**
1. **Gene Therapy**: Experimental approaches aimed at correcting the underlying genetic defect are being studied. This involves delivering a normal copy of the KIAA0586 gene to affected cells.
2. **Protein Replacement Therapy**: Efforts to replace the nonfunctional protein produced by the mutated gene are also in experimental stages.
3. **Small Molecules**: Some studies are investigating small molecules that can enhance or mimic the function of the defective protein.
4. **Morpholino Oligonucleotides**: These synthetic molecules can modify gene expression and have shown promise in preclinical models for certain ciliopathies.

Because these treatments are still largely experimental, they may be available only through clinical trials or compassionate use programs. Always consult with a healthcare provider or genetic specialist to explore the most current and personalized treatment options.
Lifestyle Recommendations: KIAA0586-related conditions are typically genetic disorders that might not be significantly impacted by lifestyle changes alone. However, general health recommendations for individuals with genetic conditions can include:

1. **Regular Medical Follow-Up:** Consistent check-ups with healthcare providers who understand the specific genetic condition to monitor and manage symptoms.
2. **Healthy Diet:** A balanced diet rich in fruits, vegetables, lean proteins, and whole grains to support overall health.
3. **Physical Activity:** Engage in appropriate levels of physical activity as recommended by a healthcare provider to maintain muscle strength and overall well-being.
4. **Rest and Sleep:** Ensure adequate rest and quality sleep to help manage energy levels and overall health.
5. **Stress Management:** Use techniques such as mindfulness, meditation, or counseling to handle stress effectively.
6. **Avoidance of Toxins:** Stay away from smoking, excessive alcohol, and other harmful substances.
7. **Support Groups:** Joining support groups for individuals with genetic conditions can provide emotional support and practical advice.

For personalized recommendations, consulting with healthcare providers, including specialists like genetic counselors, can be beneficial.
Medication: KIAA0586-related conditions are typically genetic disorders affecting ciliogenesis and ciliary function, often resulting in conditions like Joubert syndrome. As genetic disorders, treatment usually focuses on managing symptoms and associated complications rather than direct medication for the genetic alteration itself. If you have specific symptoms or complications in mind, those might be managed with different medications targeted at those issues. Regular monitoring and supportive therapies are key. Consult a healthcare professional for personalized management strategies.
Repurposable Drugs: Research on the specific repurposable drugs for KIAA0586-related conditions, such as certain ciliopathies like Joubert Syndrome, is still ongoing. While there isn't a definitive list of repurposed drugs directly targeting KIAA0586 mutations, common strategies include targeting symptoms and associated pathways. Off-label use of drugs to manage symptoms, like seizure medications, are usually individualized based on patient presentation. For precise drug options, consulting a specialist with expertise in ciliopathies is recommended.
Metabolites: KIAA0586, also known as TALPID3, is associated with Joubert syndrome, which affects the cerebellum and brainstem. There is no direct, specific information available about metabolites related to KIAA0586 or TALPID3. Research typically focuses on genetic mutations and their impact on cellular processes and development rather than specific metabolites.
Nutraceuticals: KIAA0586-related conditions, particularly those involving mutations in the KIAA0586 gene, are often connected to ciliopathies, which are disorders related to cilia function. There is currently no established nutraceutical treatment specifically targeting these genetic conditions. Nutraceuticals are often used for general health support and might not directly address the underlying genetic and molecular issues of ciliopathies. Consulting a healthcare provider specializing in genetic disorders is recommended for personalized management and treatment options.
Peptides: KIAA0586-related condition, often associated with Joubert syndrome, is linked to mutations in the KIAA0586 gene. Such mutations can lead to ciliopathies, affecting the function of cilia, which are microscopic hair-like structures on cells. In terms of peptides, there is currently no specific peptide therapy directly targeting KIAA0586 mutations. Research is ongoing in the broader context of genetic and molecular therapies for ciliopathies. Nanotechnology applications in this context are also in early research phases, with potential future uses in targeted drug delivery or gene therapy to address the underlying genetic defects.