GeneHealth - Your precision medicine

Pacs1-related Syndrome

Disease Details

Family Health Simplified

Buy Membership

Description: PACS1-related syndrome is a rare genetic disorder characterized by developmental delays, intellectual disability, distinct facial features, and various congenital anomalies due to mutations in the PACS1 gene.
Type: PACS1-related syndrome is a genetic disorder characterized by developmental delays and distinctive facial features. It follows an autosomal dominant pattern of inheritance.
Signs And Symptoms: ### PACS1-Related Syndrome

**Signs and Symptoms:**
1. **Developmental Delays:** Children often experience delays in reaching developmental milestones, such as walking and talking.
2. **Intellectual Disability:** Mild to moderate intellectual disability is common, affecting cognitive functions and learning abilities.
3. **Facial Features:** Distinctive facial characteristics include bushy eyebrows, long eyelashes, a prominent, arched eyebrow, a broad nasal bridge, and a downturned mouth.
4. **Speech and Language Issues:** Significant speech delay, often with better receptive than expressive language skills.
5. **Behavioral Issues:** Autism spectrum disorder (ASD) features, attention deficit hyperactivity disorder (ADHD), and other behavioral problems may be present.
6. **Growth Abnormalities:** Some individuals may have short stature and other growth-related issues.
7. **Hypotonia:** Low muscle tone (hypotonia) is often observed, contributing to motor development delays.
8. **Seizures:** Some children may experience seizures or epilepsy.
9. **Vision and Hearing Problems:** Issues such as refractive errors, strabismus (crossed eyes), and hearing loss may occur.
10. **Congenital Anomalies:** Possible congenital heart defects, gastrointestinal issues, and other anatomical anomalies.

**NAN:** (nan = "Not Applicable" or "No Additional Information")

This comprehensive view of PACS1-related syndrome highlights the prominent characteristics and potential challenges faced by affected individuals.
Prognosis: PACS1-related syndrome is a rare genetic disorder characterized by developmental delays, intellectual disability, and distinctive facial features. The prognosis for individuals with PACS1-related syndrome can vary widely depending on the individual, as the symptoms and their severity differ from case to case. Generally, with appropriate medical care, early intervention, and supportive therapies (such as physical, occupational, and speech therapy), individuals with PACS1-related syndrome can achieve developmental milestones and improve their quality of life. However, lifelong management and support are typically necessary.
Onset: PACS1-related syndrome typically becomes evident in early childhood. The onset of symptoms often includes developmental delays, intellectual disability, distinctive facial features, and other congenital anomalies.
Prevalence: There is currently no precise data on the prevalence of PACS1-related syndrome, as it is considered a very rare genetic disorder. It is caused by mutations in the PACS1 gene and is typically identified through genetic testing after the presentation of associated clinical features.
Epidemiology: PACS1-related syndrome, a rare genetic disorder caused by mutations in the PACS1 gene, is extremely rare with an incidence and prevalence that are not well-documented due to the limited number of reported cases. As a newly identified condition, most information about its epidemiology is gathered from individual case reports or small patient cohorts. Further studies are needed to determine its precise epidemiological characteristics.
Intractability: PACS1-related syndrome is generally not considered intractable. However, it is a genetic condition that presents with a range of developmental delays, intellectual disabilities, and various other health issues. Management and treatment focus on addressing the specific symptoms and providing supportive therapies, such as physical, occupational, and speech therapy, rather than curing the underlying genetic cause. The effectiveness of these interventions can vary among individuals.
Disease Severity: PACS1-related syndrome, also known as Schuurs-Hoeijmakers syndrome, is a genetic disorder caused by mutations in the PACS1 gene. The severity of the disease can vary among individuals but generally, it involves moderate to severe intellectual disability, developmental delays, distinctive facial features, and other possible health issues such as heart defects, skeletal abnormalities, and seizures. The severity is influenced by the specific mutation and other individual factors. No association with nanomaterials (nan) has been established.
Pathophysiology: PACS1-related syndrome, also known as Schuurs-Hoeijmakers syndrome, is a genetic disorder caused by a mutation in the PACS1 gene. The PACS1 gene provides instructions for making a protein involved in the proper sorting and transportation of other proteins within cells, particularly in the Golgi apparatus. The pathophysiology involves a mutation that disrupts the normal function of this protein, leading to a variety of developmental and cognitive impairments. This disruption affects multiple systems in the body, contributing to the syndrome's characteristic features, including intellectual disability, distinctive facial features, and various congenital anomalies.
Carrier Status: PACS1-related syndrome, also known as Schuurs-Hoeijmakers syndrome, is caused by a mutation in the PACS1 gene. Carrier status typically refers to whether an individual carries a single copy of a recessive gene mutation. However, PACS1-related syndrome is autosomal dominant, meaning only one copy of the altered gene is sufficient to cause the disorder. Therefore, the concept of being a "carrier" does not apply in the same way it would for recessive conditions, because individuals with a mutation in PACS1 will manifest symptoms of the syndrome.
Mechanism: PACS1-related syndrome, also known as Schuurs-Hoeijmakers syndrome, is a rare genetic disorder caused by mutations in the PACS1 gene. The PACS1 gene encodes for the phosphofurin acidic cluster sorting protein 1, which is involved in intracellular protein trafficking.

**Mechanism:**
The syndrome is primarily caused by a de novo heterozygous missense mutation in the PACS1 gene. The most common mutation associated with the syndrome is the c.607C>T (p.Arg203Trp) variant. This Mutation disrupts the normal function of the PACS1 protein, leading to various developmental and physiological abnormalities.

**Molecular Mechanisms:**
The Arg203Trp mutation affects the protein's cargo-sorting capabilities, disrupting the normal transport and localization of other proteins within the cell. This can interfere with multiple cellular pathways, including those involved in neurodevelopment and craniofacial development. Aberrations in these processes lead to the characteristic features of PACS1-related syndrome, which include intellectual disability, distinctive facial features, and developmental delays. The exact pathways and proteins impacted can vary, contributing to the diverse manifestations of the disorder.
Treatment: PACS1-related syndrome is a rare genetic disorder caused by mutations in the PACS1 gene. Treatment for PACS1-related syndrome is symptomatic and supportive, focusing on managing the individual symptoms and associated developmental issues. This may include:

1. **Developmental and Educational Support**: Individualized educational programs and early intervention services to address developmental delays.
2. **Speech Therapy**: To assist with speech and language difficulties.
3. **Occupational and Physical Therapy**: To improve motor skills and assist with daily activities.
4. **Management of Medical Issues**: Regular monitoring and management of any associated medical conditions, which may include seizures, heart defects, and gastrointestinal issues.
5. **Genetic Counseling**: For families to understand the nature and implications of the syndrome.

There are currently no specific medications or treatments that target the underlying genetic cause of PACS1-related syndrome.
Compassionate Use Treatment: PACS1-related syndrome is a rare genetic disorder caused by mutations in the PACS1 gene, leading to developmental delays, intellectual disability, and distinctive facial features. There is no cure, and treatment generally focuses on managing symptoms and improving quality of life.

For compassionate use or off-label treatments, there aren't specific therapies identified for PACS1-related syndrome due to its rarity and the complexity of its presentation. Supportive treatments such as physical therapy, occupational therapy, speech therapy, and special education services are often utilized to address developmental and intellectual challenges.

Experimental treatments may include participation in clinical trials studying new interventions for genetic disorders, though specific trials for PACS1-related syndrome might be limited. Genetic counseling is recommended for affected families to discuss potential future therapies and management strategies.

It's crucial for caregivers and healthcare providers to stay updated on research developments that might offer new insights or emerging treatments for PACS1-related syndrome.
Lifestyle Recommendations: PACS1-related syndrome is a genetic disorder caused by mutations in the PACS1 gene, leading to developmental delays, intellectual disabilities, and various physical anomalies. Lifestyle recommendations for individuals with PACS1-related syndrome typically focus on supportive care and optimizing the quality of life. These may include:

1. **Medical Management**: Regular consultations with healthcare professionals such as geneticists, neurologists, and pediatricians to monitor and manage health issues.

2. **Therapies**: Engaging in physical, occupational, and speech therapies to improve motor skills, daily living activities, and communication abilities.

3. **Educational Support**: Tailored educational programs and special education services to address intellectual disabilities and learning challenges.

4. **Social Interaction**: Encouraging socialization with peers and participation in group activities to enhance social skills.

5. **Healthy Diet**: Ensuring a balanced diet to support overall health and development, and addressing any feeding difficulties that may arise.

6. **Routine and Structure**: Maintaining a consistent daily routine to provide stability and reduce anxiety.

7. **Family Support**: Counseling and support groups for family members to help them cope with the challenges and provide the best care possible.

8. **Regular Exercise**: Incorporating appropriate physical activities to promote physical health and well-being, within the individual's capabilities.

Given the complex nature of PACS1-related syndrome, these recommendations should be personalized and adjusted based on individual needs and medical advice.
Medication: PACS1-related syndrome is primarily a genetic condition caused by mutations in the PACS1 gene. It typically manifests with developmental delays, intellectual disabilities, and distinctive facial features. As of now, there is no specific medication to treat the underlying genetic cause of PACS1-related syndrome. Management typically focuses on addressing individual symptoms and may involve supportive therapies such as speech therapy, occupational therapy, and physical therapy, along with educational support. Regular follow-up with a multidisciplinary medical team is usually recommended to address the various aspects of the condition.
Repurposable Drugs: PACS1-related syndrome is a rare genetic disorder caused by mutations in the PACS1 gene. There is currently limited information on repurposable drugs specifically for PACS1-related syndrome, as treatment primarily focuses on managing the symptoms and complications on a case-by-case basis. Supportive therapies such as physical, occupational, and speech therapy are commonly recommended. For precise and updated treatment options, consultation with a geneticist or a medical professional specializing in rare genetic disorders is advised.
Metabolites: PACS1-related syndrome, also known as Schuurs-Hoeijmakers syndrome, is a genetic disorder caused by mutations in the PACS1 gene. However, there is no specific information about unique metabolites associated with this syndrome. It mainly presents with developmental delay, intellectual disability, distinctive facial features, and other congenital anomalies.
Nutraceuticals: PACS1-related syndrome is a rare genetic disorder caused by mutations in the PACS1 gene. There are currently no specific nutraceuticals identified for treating this syndrome. Management typically focuses on addressing the symptoms and may involve a multidisciplinary approach, including medical, developmental, and supportive therapies.
Peptides: PACS1-related syndrome does not typically involve a treatment approach centered on peptides. This rare genetic disorder is caused by de novo mutations in the PACS1 gene and primarily affects neurodevelopment. Most management strategies focus on addressing the symptoms and complications through multidisciplinary care, including developmental therapies, educational support, and medical management for associated health issues. Research into treatments involving peptides or other molecular interventions is still in early stages or non-existent for this particular syndrome.