autosomal dominant intellectual developmental disorder 23

Autosomal dominant intellectual developmental disorder 23, also known as MRD23, is a genetic condition characterized by below-average intellectual functioning and impairments in adaptive behavior.

Key Features:

• Moderate to severe intellectual disability
• Physical features such as brachycephaly (short skull), low hairline, and thin upper lip [1]
• Impairments in adaptive behavior, affecting daily life and social interactions

Causes: MRD23 is caused by a heterozygous mutation in the SETD5 gene on chromosome 3p25. This genetic mutation leads to haploinsufficiency of the SETD5 protein, resulting in the development of intellectual disability-facial dysmorphism syndrome [2].

Prevalence and Diagnosis: While specific prevalence rates are not provided, MRD23 is a rare condition that affects individuals worldwide. Diagnosis typically involves genetic testing to confirm the presence of the SETD5 mutation.

References:

[1] Grozeva et al. (2014) reported 7 unrelated boys with moderately to severely impaired intellectual development, associated with physical features such as brachycephaly and low hairline [3].

[2] Mutations in human and/or mouse homologs are associated with this disease, highlighting the importance of genetic testing for diagnosis [4].

Note: The information provided is based on the search results and may not be an exhaustive or definitive description of MRD23.

Based on the provided context, here are the signs and symptoms of autosomal dominant intellectual developmental disorder 23:

Developmental Delays: Individuals with autosomal dominant intellectual developmental disorder 23 may experience global developmental delay, which can manifest as delays in achieving milestones such as sitting, standing, and walking [3]. This can also affect speech development.

Intellectual Disability: The condition is characterized by impaired intellectual development, leading to mild to severe intellectual disability [10].

Other Features: Additional features of this disorder may include behavioral abnormalities, such as autism spectrum disorder (ASD) and attention deficit-hyperactivity disorder (ADHD), as well as language and sleeping difficulties [4]. Some individuals may also experience anxiety or other emotional challenges.

It's essential to note that the severity and specific symptoms can vary among affected individuals. If you're looking for more detailed information, I'd be happy to help with summarizing content from relevant links.

Autosomal dominant intellectual developmental disorder 23 (IDDD23) is characterized by below-average intellectual functioning and impairments in adaptive behavior [5]. Diagnostic tests for IDDD23 are crucial for accurate diagnosis and management.

Available Diagnostic Tests:

• Clinical tests: 16 available tests are in the database for this condition, including molecular genetics tests such as deletion/duplication analysis (12) [1].
• Prenatal diagnosis is possible where the pathogenic variant has previously been identified in a family member. This is because the disorder is autosomal dominant, meaning that only one copy of the mutated gene is needed to cause the condition [2].

Genetic Testing:

• Chromosomal microarray analysis can be used to identify genetic abnormalities associated with IDDD23 [4].
• Testing for fragile X syndrome may also be recommended, as it is a common cause of intellectual disability [4].
• Karyotype analysis and metabolic testing may also be considered in the diagnostic workup [4].

Diagnostic Exome Sequencing:

• Diagnostic exome sequencing involves analysis of exome sequencing data in a predefined yet regularly updated set of genes associated with non-syndromic intellectual disability, including IDDD23 [9]. This test can help identify genetic mutations that may be causing the condition.

It's essential to note that a comprehensive diagnostic evaluation should be conducted by a qualified healthcare professional, taking into account the individual's medical history, physical examination, and laboratory results.

Based on the provided context, it appears that there isn't any specific information available about the drug treatment for Autosomal Dominant Intellectual Developmental Disorder-23 (MRD23). However, I can provide some general information about the condition and its management.

Autosomal dominant intellectual developmental disorders are a group of genetic conditions characterized by intellectual disability and varying degrees of physical and behavioral abnormalities. While there is no specific cure or drug treatment for these conditions, various therapies and interventions may be used to manage symptoms and improve quality of life.

• Early Intervention: Early intervention programs that include speech, occupational, and physical therapy can help children with MRD23 develop their skills and abilities (1).
• Behavioral Therapies: Behavioral therapies such as applied behavior analysis (ABA) and positive behavioral supports may be used to manage challenging behaviors associated with MRD23 (2).
• Medications: In some cases, medications may be prescribed to help manage symptoms such as attention deficit hyperactivity disorder (ADHD), anxiety, or sleep disturbances that can co-occur with MRD23. However, these medications are not specifically targeted at the underlying genetic cause of the condition.
• Genetic Counseling: Genetic counseling is an essential part of managing MRD23 and other autosomal dominant intellectual developmental disorders. It can help families understand the risk of passing the condition to future generations and provide guidance on reproductive options (3).

It's essential to note that each individual with MRD23 may have a unique set of needs, and treatment plans should be tailored accordingly.

References:

(1) [1] - Early intervention programs for children with intellectual disabilities can help improve their developmental outcomes. (2) [4] - Behavioral therapies such as ABA and positive behavioral supports can be effective in managing challenging behaviors associated with MRD23. (3) [5] - Genetic counseling is essential for families affected by autosomal dominant intellectual developmental disorders like MRD23.

Please note that the above information is general and not specific to drug treatment. If you're looking for more detailed or up-to-date information, I recommend consulting a medical professional or a genetic counselor who can provide personalized guidance.

Autosomal dominant intellectual developmental disorder (ID) 23, also known as MAND (Microdeletion Ablating NIPA1 and DYRK1A), is a rare genetic disorder characterized by intellectual disability, delayed speech, and various physical abnormalities.

Similar Conditions:

• Autosomal Dominant Intellectual Developmental Disorder: This condition shares similar symptoms with ID 23, including intellectual disability, delayed speech, and behavioral problems. [7]
• Microdeletion Syndromes: MAND is a type of microdeletion syndrome, which involves the deletion of small genetic material from a specific region of a chromosome. Other microdeletion syndromes, such as Wolf-Hirschhorn syndrome, may also present with similar symptoms. [1]
• Intellectual Disability: ID 23 is characterized by intellectual disability, which can range from mild to severe. This symptom is also common in other conditions, such as Down syndrome and Fragile X syndrome. [2]

Key Differences:

• Genetic Cause: MAND is caused by a microdeletion on chromosome 17p13.3, whereas other autosomal dominant ID disorders may be caused by mutations in different genes.
• Physical Abnormalities: Individuals with ID 23 often have distinct physical features, such as a small head size (microcephaly) and delayed speech development. These symptoms can help differentiate MAND from other conditions.

References:

[1] De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability. [Context #1]

[2] Non-genetic causes of intellectual disability include pre- and postnatal infections, perinatal asphyxia, maternal conditions such as diabetes or... [Context #2]

[7] Intellectual developmental disorder, autosomal dominant 34 is a condition characterized by below-average intellectual functioning and impairments in adaptive behavior. [Context #7]

Note: The above response is based on the provided context and may not be comprehensive or up-to-date information on the topic.