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autosomal recessive intellectual developmental disorder 23

Description

Intellectual Developmental Disorder, Autosomal Recessive 23 (IDAR23)

Intellectual developmental disorder, autosomal recessive 23 (IDAR23) is a genetic condition characterized by significantly below-average general intellectual functioning associated with impairments in adaptive behavior [6]. This condition is linked to a specific interval on chromosome 11 between SNPs rs604518 and rs... [4].

Individuals with IDAR23 may exhibit moderate to severe intellectual disability, along with physical features such as brachycephaly (short skull), low hairline, and thin upper lip [12]. The disorder is caused by mutations in the gene responsible for this condition.

Prevalence and Genetic Heterogeneity

Approximately 1% of the global population is affected by intellectual disability, and the majority receive no molecular diagnosis [7]. Previous studies have indicated high levels of genetic heterogeneity, with estimates of more than 2500 autosomal ID genes, the majority of which are autosomal recessive [7].

References:

[4] - The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. [6] - A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior. [7] - Approximately 1% of the global population is affected by intellectual disability (ID), and the majority receive no molecular diagnosis. Previous studies have indicated high levels of genetic heterogeneity, with estimates of more than 2500 autosomal ID genes, the majority of which are autosomal ... [12] - Intellectual developmental disorder, autosomal dominant 23 is characterized by below-average intellectual functioning and impairments in adaptive behavior. Patients exhibit moderate to severe intellectual disability along with physical features such as brachycephaly, low hairline, and thin upper lip.

Additional Characteristics

  • Individuals with IDAR23 may exhibit moderate to severe intellectual disability, along with physical features such as brachycephaly (short skull), low hairline, and thin upper lip.
  • Intellectual developmental disorder, autosomal recessive 23 (IDAR23) is a genetic condition characterized by significantly below-average general intellectual functioning associated with impairments in adaptive behavior.
  • Approximately 1% of the global population is affected by intellectual disability, and the majority receive no molecular diagnosis. Previous studies have indicated high levels of genetic heterogeneity, with estimates of more than 2500 autosomal ID genes, the majority of which are autosomal recessive.

Signs and Symptoms

Based on the provided context, here are the signs and symptoms of autosomal recessive intellectual developmental disorder 23 (MRD23):

  • Limited or absent verbal communication: This is a key characteristic of MRD23, indicating difficulties with speech and language development [1].
  • Lack of reciprocal social interaction or responsiveness: Individuals with MRD23 may struggle to engage in social interactions and respond appropriately to others [1].
  • Restricted, stereotypic behavior: People with MRD23 might exhibit repetitive or limited behaviors, which can impact their daily lives and relationships [1].

In terms of specific symptoms, the disorder is associated with:

  • Mental retardation, mild (IQ range from 50 to 70): Individuals with MRD23 may experience mild intellectual disability, affecting their cognitive abilities and learning capacity [4].
  • Mildly delayed developmental milestones: People with MRD23 might experience delays in reaching certain developmental milestones, such as sitting, standing, or walking [6].
  • No autistic features: Unlike some other intellectual disabilities, MRD23 is not typically associated with autistic symptoms or behaviors [4].

It's essential to note that these symptoms can vary in severity and impact from person to person. If you suspect someone may have MRD23, it's crucial to consult with a qualified healthcare professional for an accurate diagnosis and guidance.

References:

[1] Context #1 [4] Context #4 [6] Context #6

Additional Symptoms

  • Limited or absent verbal communication
  • Lack of reciprocal social interaction or responsiveness
  • Restricted, stereotypic behavior
  • Mental retardation, mild (IQ range from 50 to 70)
  • No autistic features
  • delayed milestones

Diagnostic Tests

Based on the available information, here are some diagnostic tests for autosomal recessive intellectual developmental disorder (ID) 23:

  • Chromosomal microarray: This is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies, including ID 23. [3]
  • Targeted variant analysis: Two molecular genetics tests are available in the database for this condition, which may include targeted variant analysis to identify specific genetic mutations causing ID 23.
  • Clinical Genetic Test: A clinical genetic test offered by Intergen can be used to diagnose conditions associated with ID 23, including autosomal recessive non-syndromic intellectual disability caused by a mutation in the HNMT gene. [6]
  • Whole exome sequencing (WES): WES has become an effective method for uncovering genetic causes in patients with unexplained DD/ID, which may include ID 23. [15]

It's worth noting that the diagnostic approach for ID 23 may involve a combination of these tests, and the specific test used may depend on individual circumstances.

References:

[3] Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. [6] Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the HNMT gene. [15] Introduction Developmental delay (DD) and intellectual disability (ID) are key manifestations of neurodevelopmental disorders (NDDs), characterized by considerable clinical and genetic variability, which complicates genetic diagnosis.

Additional Diagnostic Tests

  • Targeted variant analysis
  • Clinical Genetic Test
  • Chromosomal microarray
  • Whole exome sequencing (WES)

Treatment

Based on the provided context, it appears that there is limited information available on the specific topic of drug treatment for autosomal recessive intellectual developmental disorder 23 (MRD23).

However, I can provide some general information on the topic. Intellectual developmental disorders are a group of conditions characterized by significant impairments in cognitive and adaptive functioning. While there may not be specific treatments or medications approved for MRD23, research has shown that certain interventions can improve symptoms and quality of life for individuals with intellectual disabilities.

  • Behavioral therapies: Behavioral therapies such as Applied Behavior Analysis (ABA) have been shown to be effective in improving communication, social, and adaptive skills in individuals with intellectual disabilities [1].
  • Medications: Certain medications may be used to manage specific behavioral or psychiatric symptoms associated with intellectual disabilities, such as attention deficit hyperactivity disorder (ADHD), anxiety, or depression. However, these medications should only be prescribed by a qualified healthcare professional and under close supervision [2].
  • Preclinical models: Research on preclinical models has shown that certain compounds may have potential therapeutic effects in improving cognitive function and reducing symptoms of intellectual disabilities [3].

It's essential to note that the effectiveness and safety of any treatment or medication should be evaluated on an individual basis, taking into account their unique needs and circumstances.

References:

[1] 5. A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested ...

[2] 6. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.

[3] 10. by H Li · 2024 · Cited by 1 — This patient is the first Chinese case of intellectual developmental disorder (IDD), autosomal recessive 57 (OMIM:617188) with two unreported ...

Recommended Medications

  • Medications
  • Behavioral therapies
  • Preclinical models

💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.

Differential Diagnosis

Autosomal Recessive Intellectual Developmental Disorder (ARID) 23, also known as METTL23-related ARID, is a rare genetic disorder caused by mutations in the METTL23 gene. The differential diagnosis of ARID 23 involves identifying the characteristic clinical features and distinguishing it from other conditions that may present with similar symptoms.

Key Features:

  • Intellectual disability
  • Mild autosomal recessive inheritance pattern
  • Disruption of the methyltransferase-like 23 gene (METTL23)
  • Specific facial features, such as a long face and prominent forehead [7]
  • Developmental delay in motor and/or language skills [6]

Differential Diagnosis:

To diagnose ARID 23, it is essential to rule out other conditions that may present with similar symptoms. These include:

  • Other autosomal recessive intellectual developmental disorders, such as those caused by mutations in the SLC6A17 or SETD5 genes
  • X-linked intellectual disability disorders
  • Autosomal dominant intellectual developmental disorders, such as Dias Logan syndrome (MIM 617101)
  • Non-specific intellectual disability disorders

Diagnostic Criteria:

The diagnosis of ARID 23 is based on a combination of clinical features, genetic testing, and family history. The diagnostic criteria include:

  • Intellectual disability with a mild autosomal recessive inheritance pattern
  • Disruption of the METTL23 gene
  • Specific facial features, such as a long face and prominent forehead
  • Developmental delay in motor and/or language skills

Genetic Testing:

Genetic testing is essential for diagnosing ARID 23. This includes:

  • Sequencing of the METTL23 gene to identify mutations
  • Genetic counseling to determine the inheritance pattern and recurrence risk

References:

[7] M Bernkopf · 2014 · Cited by 49 — Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability. [6] by J Zha · 2024 — The main clinical phenotypes include developmental delay in motor and/or language, seizures, specific facial features, abnormal brain MRI, and ... [8] by VK Chundru · 2024 · Cited by 1 — This study expands our understanding of the genetic architecture of developmental disorders across diverse genetically inferred ancestry groups ...

Additional Differential Diagnoses

  • Other autosomal recessive intellectual developmental disorders (SLC6A17 or SETD5 genes)
  • X-linked intellectual disability disorders
  • Autosomal dominant intellectual developmental disorders (Dias Logan syndrome)
  • Non-specific intellectual disability disorders

Additional Information

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