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Intellectual Disability Autosomal Recessive 24

Disease Details

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Description: Intellectual disability, autosomal recessive 24 (MRT24) is a genetic disorder characterized by significantly impaired cognitive function and adaptive behaviors manifesting from early childhood, due to mutations in the gene involved.
Type: Autosomal Recessive
Signs And Symptoms: Intellectual disability, autosomal recessive 24 (OMIM #615552) typically includes the following signs and symptoms:

1. **Intellectual disability** – This is the primary characteristic, often ranging from mild to severe.
2. **Developmental delay** – Affected individuals generally exhibit significant delays in reaching developmental milestones.
3. **Motor skills impairment** – Difficulties with fine and gross motor skills are common.
4. **Speech and language delays** – Individuals often have delayed speech development and may eventually have limited expressive language abilities.
5. **Behavioral issues** – Some may display behavioral problems, including hyperactivity, aggression, or social withdrawal.

Other features may include but are not limited to hypotonia (decreased muscle tone) and specific facial dysmorphisms. As with many genetic conditions, the presentation can vary among affected individuals.
Prognosis: Intellectual Disability, Autosomal Recessive 24 (MRT24) is a rare genetic disorder characterized by severe intellectual disability and developmental delay. Prognosis can vary depending on individual circumstances, but generally, individuals with MRT24 will have lifelong cognitive impairment. Supportive care, special education programs, and therapies can help improve quality of life and maximize potential. There is no cure, and management mainly focuses on addressing symptoms and providing supportive care.
Onset: Intellectual Disability, Autosomal Recessive 24 typically has an onset in early childhood.
Prevalence: The prevalence of intellectual disability-autosomal recessive 24 (IDAR24) is not well-documented, and specific data on its frequency in the general population is not readily available.
Epidemiology: There is limited information available on the epidemiology of Intellectual Disability, Autosomal Recessive 24, often due to its rarity. Detailed prevalence rates and demographic data are generally not well-documented for such rare genetic disorders. This condition is typically inherited in an autosomal recessive pattern, meaning both parents must be carriers of the mutated gene for a child to be affected.
Intractability: Intellectual disability, autosomal recessive 24 (IDAR24) is generally considered intractable, meaning that it is difficult to manage or treat effectively. This is because it is a genetic disorder caused by mutations that result in significant and often irreversible impairments in cognitive function and development. Treatment is typically supportive and focuses on managing symptoms and improving the quality of life rather than curing the condition.
Disease Severity: The severity of intellectual disability in autosomal recessive 24 (IDAR24) can vary widely among affected individuals. Generally, it is characterized by moderate to severe intellectual disability.
Pathophysiology: Intellectual disability autosomal recessive 24 (MIM #615786) is caused by mutations in the gene SLC6A17. This gene encodes a sodium-dependent neurotransmitter transporter protein, primarily expressed in the central nervous system. Mutations in SLC6A17 impair the transporter's function, leading to disrupted neurotransmitter homeostasis. This disruption affects synaptic function and neuronal communication, contributing to the intellectual disability observed in affected individuals.
Carrier Status: Carrier status for intellectual disability, autosomal recessive 24 (IDAR24) refers to individuals who carry one copy of the mutated gene associated with this condition but do not exhibit symptoms themselves. They can potentially pass the mutated gene to their offspring, who may develop the condition if they inherit a second mutated gene from the other parent.

The term "nan" is unclear in this context. If you meant to ask about another specific aspect of IDAR24, please clarify.
Mechanism: Intellectual disability, autosomal recessive 24 (MRT24) is primarily associated with mutations in the gene THOC6, which is located on chromosome 15. THOC6 encodes a component of the THO complex that is involved in mRNA processing and export from the nucleus. Disruptions in the function of this gene can lead to abnormal mRNA metabolism, thereby impairing neuronal development and function.

Molecular mechanisms include:
1. Mutations in the THOC6 gene that lead to loss of function or truncated proteins.
2. Impaired assembly or stability of the THO complex, affecting mRNA processing.
3. Disruption in the export of mRNA from the nucleus to the cytoplasm, which impacts protein synthesis essential for normal brain development and function.

These molecular disruptions contribute to the clinical manifestations of intellectual disability observed in individuals with MRT24.
Treatment: Autosomal recessive intellectual disability 24 (ARID24) is a genetic disorder characterized by intellectual disability resulting from mutations inherited in an autosomal recessive pattern. Currently, there is no cure for ARID24, and treatment primarily focuses on supportive care and symptom management. Approaches may include:

1. **Educational interventions**: Special education programs tailored to the individual's needs can help maximize learning potential.
2. **Therapies**: Speech, occupational, and physical therapy can assist with communication, daily living skills, and motor function.
3. **Medical management**: Regular medical follow-up and management of associated health issues, if any.
4. **Behavioral support**: Behavioral therapies can help address any behavioral challenges and improve social skills.
5. **Family support**: Providing support and resources to families to help them care for affected individuals.

Management should involve a multidisciplinary team to provide comprehensive care tailored to the specific needs of the patient.
Compassionate Use Treatment: Intellectual Disability Autosomal Recessive 24 (IDAR24) is a genetic disorder that results in intellectual disability. Information on specific compassionate use treatments or experimental therapies for IDAR24 is limited, as it is a rare condition.

1. **Compassionate Use Treatment**:
- Compassionate use typically involves the use of investigational drugs or therapies outside of clinical trials for patients with serious or immediately life-threatening conditions. Information about compassionate use for IDAR24 is sparse, and treatment generally focuses on supportive care and symptom management.

2. **Off-label Treatments**:
- Off-label treatments may involve the use of approved medications for other indications to manage symptoms associated with intellectual disabilities, such as anti-epileptic drugs if seizures are present, or medications to address behavioral issues.

3. **Experimental Treatments**:
- Research into genetic therapies, such as gene editing or replacement, is ongoing for various genetic disorders, including intellectual disabilities. Clinical trials exploring new treatments for similar genetic conditions may provide insights or future therapeutic options. However, access to these therapies would likely be through participation in clinical trials.

Patients and caregivers should consult neurologists or geneticists who specialize in rare genetic disorders for the most current treatment options and information on ongoing research or clinical trials.
Lifestyle Recommendations: Intellectual disability autosomal recessive 24 (IDAR24) is a genetic condition characterized by impaired intellectual development.

**Lifestyle Recommendations for Managing IDAR24:**
1. **Early Intervention and Education:** Early diagnosis and intervention can help optimize developmental outcomes. Specialized educational programs tailored to the individual's needs can be beneficial.
2. **Therapies:** Consistent engagement with speech, occupational, and physical therapy can enhance communication, motor skills, and daily living skills.
3. **Routine and Structure:** Establishing a consistent daily routine can provide a sense of security and help manage behavioral issues.
4. **Healthy Diet:** Ensure a balanced diet to support overall physical health and well-being.
5. **Regular Physical Activity:** Encourage age-appropriate physical activities to maintain physical health and motor skills.
6. **Social Interaction:** Facilitate opportunities for socialization to help develop social skills and prevent isolation.
7. **Mental Health Support:** Regular psychological support can assist in managing any co-occurring mental health issues such as anxiety or depression.
8. **Family Support:** Providing support and resources for family members to cope with the complexities of caring for someone with IDAR24.

Consult healthcare professionals familiar with IDAR24 to tailor these recommendations to individual needs.
Medication: Currently, there are no specific medications approved for treating intellectual disability autosomal recessive 24 (IDAR24). Management typically focuses on supportive therapies, including special education programs, occupational therapy, physical therapy, and speech therapy to enhance the individual’s developmental and functional abilities.
Repurposable Drugs: Currently, there are no specific repurposable drugs recognized for Intellectual Disability, Autosomal Recessive 24 (IDAR24). As this condition is a genetic disorder, treatments primarily focus on managing symptoms and supportive care. Research is ongoing, and new discoveries may provide potential therapeutic options in the future.
Metabolites: Intellectual disability autosomal recessive 24 (IDAR24) is associated with mutations in the gene PUS7. As of now, there is limited specific information about distinct metabolites directly linked to IDAR24. Generally, metabolic profiling in cases of intellectual disability may involve looking at a broad range of metabolites to identify any abnormalities, but no particular metabolites have been definitively associated with IDAR24. If you are looking for details about metabolic disturbances in this specific condition, specialized genetic and biochemical tests guided by a healthcare professional would be most informative.
Nutraceuticals: There is no established information or specific nutraceuticals for the treatment or management of intellectual disability autosomal recessive 24. Nutraceuticals, which include dietary supplements, vitamins, and minerals, are not recognized as a treatment for this genetic condition. It is important to consult healthcare professionals for personalized medical advice and management strategies for genetic disorders.
Peptides: Intellectual Disability, Autosomal Recessive 24 (IDAR24) is a genetic disorder characterized by intellectual disability and various other neurological features. It is caused by mutations in the PGAP3 gene. As this is a genetic condition, it is not typically associated with specific peptides or nanomaterial applications. The focus is primarily on genetic and molecular understanding for diagnosis and potential therapeutic approaches. If you need more specific information about treatment or genetic aspects, please let me know!