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Syndromic X-linked Intellectual Disability 94

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Description: Syndromic X-linked intellectual disability 94 (XLID94) is a genetic disorder characterized by intellectual disability, developmental delay, and distinctive facial features, affecting only males due to its X-linked inheritance pattern.

One-sentence description: XLID94 is a genetic disorder causing intellectual disability, developmental delay, and distinct facial features, primarily affecting males due to its inheritance on the X chromosome.
Type: Syndromic X-linked intellectual disability 94 is transmitted in an X-linked recessive manner.
Signs And Symptoms: Syndromic X-linked intellectual disability 94 (SXLID94) is a genetic disorder characterized primarily by the following signs and symptoms:

1. Intellectual Disability: Varying degrees of cognitive impairment.
2. Developmental Delay: Delays in reaching developmental milestones.
3. Behavioral Issues: Such as hyperactivity, aggression, or other behavioral abnormalities.
4. Dysmorphic Features: Distinctive facial features may be present but can vary widely.
5. Speech and Language Delay: Significant delay or impairment in speech development.
6. Hypotonia: Reduced muscle tone.
7. Motor Coordination Problems: Difficulties with fine and gross motor skills.

Each patient may present with a different combination and severity of these symptoms due to the variability typical of X-linked genetic disorders.
Prognosis: Syndromic X-linked intellectual disability 94 (XLID-94) is a genetic disorder characterized by intellectual disability along with other syndromic features, often affecting males due to its X-linked inheritance pattern. Prognosis for individuals with XLID-94 can vary widely based on the severity of symptoms and associated health issues. Effective management and supportive care can improve quality of life, but the intellectual and developmental impairments are typically lifelong. Life expectancy may be influenced by the presence of additional medical complications often associated with the syndrome.
Onset: For Syndromic X-linked Intellectual Disability 94 (MRXS94), the onset typically occurs in infancy or early childhood. This disorder is characterized by delays in developmental milestones and intellectual disability that are evident from a young age.
Prevalence: The prevalence for Syndromic X-linked Intellectual Disability 94 (MRXS94) is not well-documented in the medical literature, likely due to its rarity. As such, specific prevalence data is not available.
Epidemiology: Syndromic X-linked intellectual disability 94 (XLID 94) is a rare genetic disorder with limited epidemiological data due to its rarity. It primarily affects males, as it is linked to the X chromosome. The exact prevalence and incidence are not well-established, but cases are typically identified through genetic testing and diagnostic criteria in affected individuals. Since it is a genetic disorder, it can occur in any population, but detailed epidemiological data remain sparse.
Intractability: Syndromic X-linked Intellectual Disability 94 is typically characterized by intellectual disability along with additional clinical features. The term "intractable" refers to conditions that are difficult to manage or cure. Intellectual disabilities, including those associated with genetic syndromes like this, are generally not curable. Management focuses on supportive care, educational interventions, and addressing associated medical issues. Therefore, while aspects of the condition, particularly the intellectual disability component, can be considered intractable, there may be variability in the response to interventions for other symptoms.
Disease Severity: Syndromic X-linked intellectual disability 94 is a genetic disorder characterized by intellectual disability, developmental delays, and often other physical and neurological symptoms. The severity of the disease can vary widely among affected individuals. Some may experience mild to moderate intellectual disability, while others may have more severe impairments and additional health issues. The variability in severity makes individualized assessment and management crucial.
Healthcare Professionals: Disease Ontology ID - DOID:0060823
Pathophysiology: Syndromic X-linked Intellectual Disability 94 (XLID 94) is a genetic disorder caused by mutations in the USP27X gene, located on the X chromosome. The pathophysiology involves the disruption of normal cognitive development due to the dysfunction in the USP27X gene, which plays a role in various cellular processes, including protein degradation through the ubiquitin-proteasome system. The disrupted protein degradation can lead to an accumulation of dysfunctional proteins, resulting in impaired neuronal function and intellectual disability.
Carrier Status: Syndromic X-linked Intellectual Disability 94 is an X-linked recessive disorder. In this inheritance pattern, females who have one mutated copy of the gene are typically carriers and usually do not show symptoms of the disease. Males, on the other hand, with one mutated copy of the gene, are usually affected because they have only one X chromosome.

If "nan" refers to "not applicable" or "not available" in this context, it may suggest that there's no additional specific information provided or required beyond the carrier status explanation provided above.
Mechanism: Syndromic X-linked Intellectual Disability 94 (XLID-94) is a genetic disorder primarily affecting cognitive development.

**Mechanism:** The disorder is caused by mutations in the FGD1 gene located on the X chromosome. The FGD1 gene codes for a protein involved in actin cytoskeleton organization, which is crucial for cell signaling and migration.

**Molecular Mechanisms:** Mutations in the FGD1 gene disrupt its function, leading to improper actin cytoskeleton organization. This disruption affects various cellular processes, including neural development and signal transduction, ultimately resulting in intellectual disability and other associated phenotypes.
Treatment: Syndromic X-linked Intellectual Disability 94 is a rare genetic disorder. Currently, there are no specific treatments for this condition. Management typically focuses on supportive care and symptomatic treatment, including:

1. Special education programs
2. Speech and language therapy
3. Occupational therapy
4. Behavioral therapy
5. Regular medical follow-up to monitor and address any associated health issues

Genetic counseling is also recommended for affected families.
Compassionate Use Treatment: Syndromic X-linked intellectual disability 94 is a rare genetic disorder, and due to its rarity, specific treatments may not be well-established. Compassionate use treatment refers to providing investigational drugs outside of clinical trials to patients with serious diseases who have no other treatment options. In this context, treatment options might include:

1. **Compassionate Use**: Potential access to experimental drugs or therapies not yet approved for general use.
2. **Off-Label Use**: Use of medications approved for other conditions that might alleviate some symptoms. For instance, medications used for managing behavioral issues or seizures could be prescribed based on clinical judgment.

It is important to work closely with a healthcare provider to explore appropriate treatment options, given the highly individualized nature of the condition.
Lifestyle Recommendations: Syndromic X-linked Intellectual Disability 94 (XLID 94) is a rare genetic disorder typically affecting males and characterized by intellectual disability, often accompanied by other physical, behavioral, and neurological features. While there are no specific lifestyle recommendations uniquely prescribed for XLID 94, general lifestyle tips aimed at improving overall quality of life and well-being can be beneficial. These may include:

1. **Routine Medical Care**: Regular check-ups with healthcare providers specialized in genetic disorders and intellectual disabilities are crucial for managing health issues and monitoring progress.

2. **Therapy and Support Services**: Engaging in physical, occupational, and speech therapies can enhance functional abilities and communication skills. Behavioral therapy may also help manage any associated behavioral concerns.

3. **Education**: Enrollment in special education programs tailored to the individual's learning needs can foster academic growth and social development. It's beneficial to work closely with educators to create an individualized education plan (IEP).

4. **Social Interaction**: Encouraging participation in social activities and support groups can help with social skills development and provide emotional support.

5. **Healthy Diet**: A balanced diet supports overall health, which is especially important for individuals with additional health complications. Consulting a dietitian for personalized advice may be beneficial.

6. **Physical Activity**: Engaging in regular physical activity can promote physical health, flexibility, and coordination. Activities should be adapted to the individual's abilities and preferences.

7. **Family Support**: Family involvement and support are key. Families may also benefit from connecting with support groups and resources for caregivers of individuals with intellectual disabilities.

8. **Safety**: Ensuring a safe living environment, considering any specific needs or vulnerabilities, can prevent accidents and provide a stable space for living and learning.

Ultimately, a multidisciplinary approach involving medical professionals, therapists, educators, and family members is essential for optimizing the care and development of individuals with XLID 94.
Medication: For Syndromic X-linked Intellectual Disability 94 (XLID-94), there is currently no specific medication available to treat the underlying genetic condition. Management primarily focuses on symptomatic treatment and supportive care, involving a multidisciplinary approach. This may include behavioral therapy, educational support, physical therapy, occupational therapy, and speech therapy to maximize the individual’s potential and quality of life. Medications may be prescribed to manage specific symptoms or coexisting conditions, such as seizure disorders, ADHD, or anxiety. Genetic counseling is also recommended for affected families.
Repurposable Drugs: Currently, there is limited information on repurposable drugs specifically for X-linked intellectual disability type 94 (XLID-94). Research into potential pharmacological treatments for such rare genetic conditions is ongoing, and therapeutic strategies often focus on managing symptoms and improving quality of life rather than addressing the underlying genetic cause directly. Consulting with a specialist in genetic disorders or a clinical geneticist is recommended for personalized medical advice and up-to-date information on potential treatments.
Metabolites: Syndromic X-linked intellectual disability 94 currently does not have specific known metabolites directly associated with the condition. This disorder is primarily linked to genetic mutations, particularly in the gene UBE2A.
Nutraceuticals: Syndromic X-linked intellectual disability 94 (SXLID 94) is caused by mutations in the CUL4B gene. Management primarily focuses on symptomatic treatment, including educational and developmental support. To date, there is no specific information or evidence regarding the use of nutraceuticals for this condition. Consulting a healthcare provider for personalized advice is recommended.
Peptides: Syndromic X-linked Intellectual Disability 94 (SXLID 94) is tied to mutations in the MECP2 gene but there are no specific peptides associated with the diagnosis or treatment of this condition. "Nan" appears to be an incomplete or unclear term in this context. If you were referring to a specific aspect or treatment involving nanotechnology, please provide more details for a precise answer.