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Intellectual Disability Autosomal Recessive 7

Disease Details

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Description: Intellectual disability autosomal recessive 7 (MRT7) is a genetic disorder characterized by significantly impaired intellectual functioning and adaptive behavior due to autosomal recessive inheritance.
Type: Intellectual disability autosomal recessive 7 (IDAR7) follows an autosomal recessive pattern of genetic transmission.
Signs And Symptoms: Intellectual Disability, Autosomal Recessive 7 (IDAR7) is characterized by the following signs and symptoms:

1. **Intellectual Disability**: Significant impairment in cognitive functioning and adaptive behaviors, manifesting before adulthood.
2. **Delayed Development**: Slower than typical development of motor skills, such as sitting, standing, and walking.
3. **Speech and Language Delays**: Difficulty in developing and using speech and language skills.
4. **Behavioral Issues**: Potential for behavioral problems, including difficulties with social interactions or adaptive behaviors.

Note that the exact presentation can vary among individuals.
Prognosis: The prognosis for intellectual disability autosomal recessive 7 (IDAR7) varies depending on the specific genetic mutation and other individual factors. Generally, intellectual disabilities are lifelong conditions, but the severity may differ among individuals. There is no cure, and treatment typically focuses on managing symptoms and providing supportive care, such as educational interventions, behavioral therapies, and possibly medications to address associated conditions. Early intervention and continuous support can help improve quality of life and functional abilities.
Onset: The onset of intellectual disability related to autosomal recessive intellectual disability 7 typically occurs in early childhood.
Prevalence: The prevalence of intellectual disability autosomal recessive 7 (IDAR7) is not well-established in the general population. It is considered a rare genetic disorder.
Epidemiology: Intellectual disability autosomal recessive 7 (IDAR7) is a rare genetic disorder primarily affecting intellectual development. It is inherited in an autosomal recessive pattern, meaning both copies of the gene in each cell have mutations. The specific prevalence of IDAR7 is not well-documented due to its rarity and the wide spectrum of symptoms. Although exact epidemiological data are not available, autosomal recessive intellectual disabilities often have higher incidence rates in populations with high rates of consanguinity.
Intractability: Intellectual disability autosomal recessive 7, caused by mutations in the ADAT3 gene, is generally considered intractable. There are no current cures, and management is largely supportive, focusing on addressing symptoms and improving quality of life through therapies and interventions.
Disease Severity: Disease severity for intellectual disability autosomal recessive 7 (IDAR7) can vary, but generally, it involves significant intellectual impairment. The severity can differ among individuals, with some experiencing mild to severe intellectual challenges.
Pathophysiology: Intellectual disability, autosomal recessive 7 (MRT7) is associated with mutations in the ADAT3 gene, which encodes for the enzyme adenosine deaminase acting on transfer RNA 3. This enzyme is crucial for the modification of adenosine residues in tRNA molecules, impacting protein translation. Mutations leading to the loss of function in ADAT3 disrupt proper tRNA editing, which impairs protein synthesis and affects normal brain development and function, resulting in intellectual disability.
Carrier Status: Carrier status for intellectual disability, autosomal recessive 7 (MRT7) refers to individuals who have one copy of the mutated gene but do not exhibit symptoms of the condition. These carriers can still pass on the mutation to their offspring. For a child to be affected by MRT7, they must inherit two copies of the mutated gene, one from each parent.
Mechanism: Intellectual disability, autosomal recessive 7, is a genetic condition characterized by significantly impaired intellectual and adaptive functioning.

The disorder is linked to mutations in the gene TUSC3, which is found on chromosome 8. TUSC3 encodes a protein that is involved in the process of N-glycosylation, an essential cellular mechanism that attaches carbohydrate groups to proteins. This modification is important for protein folding and stability.

Mutations in TUSC3 disrupt the normal function of this protein, leading to defects in N-glycosylation. As a result, improperly folded or unstable proteins accumulate, particularly affecting neuronal cells. This disruption in protein processing and function contributes to the neurological impairments observed in individuals with intellectual disability, autosomal recessive 7.
Treatment: Currently, there is no specific treatment for intellectual disability autosomal recessive 7 (IDAR7). Management typically involves supportive care, which may include special education programs, behavioral therapy, and supportive services to maximize the individual's potential and improve their quality of life. Genetic counseling may also be recommended for affected families.
Compassionate Use Treatment: Intellectual disability autosomal recessive 7 (IDAR7) is a genetic condition that typically requires a targeted approach to treatment. For compassionate use treatment, off-label, or experimental treatments, specific options are limited due to the rarity and genetic nature of the disorder. However, potential approaches could include:

1. **Genetic Counseling and Supportive Care**: Primary focus on tailored supportive treatments, including special education programs, physical, occupational, and speech therapies.

2. **Nutritional Interventions and Supplements**: If identified genetic mutations affect metabolic pathways, some specific nutritional supplements may be considered off-label.

3. **Emerging Therapies**: Participation in clinical trials investigating novel therapeutics, such as gene therapies, might be an option. Experimental treatments would depend on the specific gene mutation involved.

4. **Pharmacological Management**: Off-label use of medications to manage symptoms like seizures or behavioral issues, under close clinical supervision.

Families should consult with a geneticist or a specialist in metabolic or neurodevelopmental disorders to explore these options.
Lifestyle Recommendations: For individuals with intellectual disability autosomal recessive 7, lifestyle recommendations to support overall well-being may include:

1. **Structured Routine**: Establishing a consistent daily routine can provide stability and predictability.

2. **Specialized Education**: Enrolling in educational programs tailored to their specific developmental needs.

3. **Therapeutic Interventions**: Engaging in speech, occupational, and physical therapies to address specific challenges.

4. **Nutritional Support**: Ensuring a balanced diet tailored to their health needs.

5. **Physical Activity**: Encouraging regular physical exercise suitable for their abilities.

6. **Social Interaction**: Facilitating opportunities for socialization with peers to enhance social skills.

7. **Parental and Caregiver Support**: Providing training and support for caregivers to effectively meet the needs of the individual.

8. **Regular Medical Check-Ups**: Maintaining frequent health evaluations to monitor and address any arising health issues.

9. **Safety Measures**: Implementing safety precautions at home and in other environments to prevent accidents.

10. **Community Resources**: Utilizing available community resources and support groups for additional assistance and connection with other families.

These recommendations should be tailored to the individual's unique needs and regularly reviewed with healthcare professionals.
Medication: Currently, there is no specific medication for intellectual disability autosomal recessive 7 (MRT7). Management typically focuses on supportive care and addressing symptoms or complications. This may include behavioral therapy, educational interventions, and other supportive services rather than targeted pharmacological treatment.
Repurposable Drugs: Currently, there are no specific repurposable drugs identified for Intellectual Disability Autosomal Recessive 7 (IDAR7). Treatment primarily focuses on managing symptoms and supportive care. Research is ongoing to understand the condition better and identify potential therapeutic strategies.
Metabolites: Intellectual disability, autosomal recessive 7 (IDAR7) is a genetic disorder, but specific information regarding metabolites directly associated with IDAR7 is not well-documented in the literature. Generally, autosomal recessive intellectual disability disorders may involve disruptions in various metabolic pathways, but further specific details would depend on the underlying genetic mutations and their effects on metabolism. Detailed metabolic analysis would be necessary for precise metabolite identification.
Nutraceuticals: Intellectual Disability Autosomal Recessive 7 (IDAR7) is primarily a genetic condition, and as such, its management does not typically involve nutraceuticals (dietary supplements) as a standard treatment. The focus is usually on supportive care, behavioral therapies, and educational interventions tailored to the individual's needs. It is crucial to consult with healthcare professionals for personalized management strategies.
Peptides: Intellectual disability, autosomal recessive 7 (IDAR7) is caused by mutations in the gene encoding the glutamate metabotropic receptor 7 (GRM7). Peptide information specific to this condition is not directly related, as the disorder primarily involves genetic mutations affecting brain function rather than peptide abnormalities.