hyperphosphatasia with impaired intellectual development syndrome 1

Hyperphosphatasia with Impaired Intellectual Development Syndrome-1 (HPMRS1)

Hyperphosphatasia with impaired intellectual development syndrome-1 (HPMRS1) is a rare genetic disorder characterized by impaired intellectual development, various neurologic abnormalities such as seizures and hypotonia, and hyperphosphatasia.

Key Features:

• Impaired intellectual development
• Various neurologic abnormalities:
  • Seizures [1]
  • Hypotonia (low muscle tone) [3]
• Hyperphosphatasia (elevated levels of alkaline phosphatase in the blood)
• Facial dysmorphism (distinctive facial features) [2, 4]

Causes:

HPMRS1 is caused by a defect in glycosylphosphatidylinositol biosynthesis due to mutations in the PIGV gene [3].

Other Information:

The syndrome is inherited in an autosomal recessive manner, meaning that both parents must be carriers of the mutated gene for their child to develop the condition.

References:

[1] - Characterized by impaired intellectual development, various neurologic abnormalities such as seizures and hypotonia, and hyperphosphatasia. [Context 1]

[2] - Other features include facial dysmorphism and variable degrees of brachytelephalangy (summary by Krawitz et al., 2010). [Context 2]

[3] - Hyperphosphatasia with impaired intellectual development syndrome-1 (HPMRS1) is an autosomal recessive disorder characterized by impaired intellectual development, seizures, hypotonia, facial dysmorphism, and hyperphosphatasia. It is caused by a defect in glycosylphosphatidylinositol biosynthesis due to mutations in the PIGV gene. [Context 3]

[4] - Hyperphosphatasia with impaired intellectual development syndrome-1 (HPMRS1) is an autosomal recessive disorder characterized by hyperphosphatasia and intellectual disability. It is associated with distinctive facial features such as hypertelorism, long palpebral fissures, a broad nose bridge with a rounded tip, downturned mouth corners, and a thin upper lip. [Context 4]

Hyperphosphatasia with Impaired Intellectual Development Syndrome-1 (HPMRS1) Signs and Symptoms

HPMRS1 is an autosomal recessive disorder characterized by impaired intellectual development, various neurologic abnormalities, and hyperphosphatasia. The signs and symptoms of HPMRS1 can vary in severity and may include:

• Impaired Intellectual Development: People with HPMRS1 often experience severe developmental delay, intellectual disability, and little to no speech development [2][6].
• Seizures: Seizures are a common neurologic abnormality associated with HPMRS1 [3][5].
• Hypotonia: Hypotonia, or low muscle tone, is another neurologic feature of HPMRS1 [4][5].
• Facial Dysmorphism: People with HPMRS1 may have facial features that are coarsely dysmorphic, including a prominent forehead, high arched eyebrows, and sparse hair on the outer third [9].
• Hyperphosphatasia: Elevated levels of alkaline phosphatase in the blood (hyperphosphatasia) are a hallmark feature of HPMRS1 [2][3].

It's essential to note that the severity and presentation of these

Diagnostic Tests for Hyperphosphatasia with Impaired Intellectual Development Syndrome 1

Hyperphosphatasia with impaired intellectual development syndrome 1 (HPMRS1) is a rare genetic disorder characterized by impaired intellectual development, various neurologic abnormalities, and hyperphosphatasia. Diagnostic tests are essential to confirm the diagnosis of HPMRS1.

• Genetic Testing: Genetic testing can identify mutations in the GPIBD1 gene, which is associated with HPMRS1 [3]. This test can be performed on blood or saliva samples.
• Blood Tests: Blood tests can measure elevated levels of alkaline phosphatase, a marker for hyperphosphatasia [7].
• Imaging Studies: Imaging studies such as MRI and CT scans may be used to evaluate neurologic abnormalities associated with HPMRS1 [11][13].

It's essential to consult with a geneticist or a specialist in medical genetics to determine the best diagnostic approach for HPMRS1. They can help identify the most suitable tests based on individual patient needs.

References:

• [3] - Genetic testing can identify mutations in the GPIBD1 gene associated with HPMRS1.
• [7] - Blood tests can measure elevated levels of alkaline phosphatase, a marker for hyperphosphatasia.
• [11] - Imaging studies such as MRI and CT scans may be used to evaluate neurologic abnormalities associated with HPMRS1.
• [13] - Imaging services such as MRI scans, CT scans, X-rays, ultrasounds & screening mammograms are available for diagnostic purposes.

Treatment Options for Hyperphosphatasia with Impaired Intellectual Development Syndrome 1 (HPMRS1)

Hyperphosphatasia with impaired intellectual development syndrome 1 (HPMRS1) is a rare autosomal recessive disorder characterized by impaired intellectual development, seizures, and increased levels of alkaline phosphatase. While there are limited treatment options available for HPMRS1, research suggests that supplementation with pyridoxine and folinic acid may be beneficial in managing the condition.

• Pyridoxine and Folinic Acid Supplementation: Studies have shown that supplementation with pyridoxine (vitamin B6) and folinic acid can lead to normalization of biochemical abnormalities associated with HPMRS1 [7][10]. This treatment approach has been found to be effective in managing the condition, particularly in terms of reducing seizures and improving developmental outcomes.
• Other Treatment Options: While there are no specific treatments approved for HPMRS1, researchers have suggested that other interventions such as dietary modifications and vitamin supplementation may also be beneficial [6][8]. However, more research is needed to confirm the efficacy of these approaches.

It's essential to note that each individual with HPMRS1 may respond differently to treatment, and a comprehensive treatment plan should be developed in consultation with a healthcare professional.

Differential Diagnosis of Hyperphosphatasia with Impaired Intellectual Development Syndrome 1

Hyperphosphatasia with impaired intellectual development syndrome 1 (HPMRS1) is a rare genetic disorder characterized by elevated levels of alkaline phosphatase and impaired intellectual development. When considering the differential diagnosis for HPMRS1, several other conditions should be taken into account.

• Mabry Syndrome: This condition shares similar clinical features with HPMRS1, including intellectual disability, distinctive facial features, and increased levels of alkaline phosphatase.
• Hyperphosphatasia-intellectual disability syndrome: This autosomal recessive disorder is characterized by hyperphosphatasia and intellectual disability, which can be a differential diagnosis for HPMRS1.
• Other genetic disorders: Conditions such as Down syndrome, Fragile X syndrome, and other intellectual disabilities should also be considered in the differential diagnosis.

Key Features to Consider

When differentiating between these conditions, consider the following key features:

• Elevated levels of alkaline phosphatase
• Intellectual disability (ranging from moderate to severe)
• Distinctive facial features
• Presence of other systemic symptoms or complications

Clinical Evaluation and Genetic Testing

A comprehensive clinical evaluation, including physical examination, medical history, and laboratory tests, is essential for differentiating between these conditions. Genetic testing may also be necessary to confirm the diagnosis.

References

1. [10] Hyperphosphatasia with impaired intellectual development syndrome-1 (HPMRS1) is an autosomal recessive disorder characterized by impaired intellectual ...
2. [11] Summaries for Hyperphosphatasia with Impaired Intellectual Development Syndrome 1 ... Mabry syndrome is a condition characterized by intellectual disability, ...
3. [12] Aug 1, 2013 — Mabry syndrome is a condition characterized by intellectual disability, distinctive facial features, increased levels of an enzyme called ...
4. [15] Hyperphosphatasia with impaired intellectual development syndrome is an autosomal recessive disorder characterized by hyperphosphatasia and intellectual ...