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autosomal dominant intellectual developmental disorder 26
Description
Autosomal dominant intellectual developmental disorder-26 (MRD26) is a genetic condition characterized by intellectual disability, epilepsy, and infant feeding difficulties [1]. It is caused by mutations in the WDR26 gene, which is responsible for encoding a protein involved in various cellular processes [3].
Individuals with MRD26 typically experience significant impairments in cognitive functioning and adaptive behavior, leading to developmental delays and intellectual disability [2]. The condition is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is sufficient to cause the disorder [6].
The symptoms of MRD26 can vary in severity, but they often include:
- Intellectual disability: Significant impairments in cognitive functioning, affecting learning, memory, and problem-solving abilities.
- Epilepsy: Recurring seizures due to abnormal electrical activity in the brain.
- Infant feeding difficulties: Problems with feeding and nutrition during infancy.
It's essential to note that MRD26 is a rare condition, and its symptoms can be complex. A comprehensive medical evaluation by a qualified healthcare professional is necessary for an accurate diagnosis and proper management of the disorder [7].
References:
[1] - The use of a number sign (#) in this entry indicates that autosomal dominant intellectual developmental disorder-26 (MRD26) is caused by mutations in the WDR26 gene. [2] - A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested... [3] - WDR26-related intellectual disability is characterized by developmental delay/intellectual disability, epilepsy, and infant feeding difficulties... [6] - Autosomal dominant intellectual developmental disorder is a condition characterized by intellectual disability inherited in an autosomal dominant pattern. [7] - The full-text, referenced overviews in OMIM contain information on all known mendelian disorders...
Additional Characteristics
- Intellectual disability
- Epilepsy
- Infant feeding difficulties
Signs and Symptoms
Based on the provided context, here are the signs and symptoms of autosomal dominant intellectual developmental disorder 26 (MRD26):
- Global developmental delay [3]
- Variable degrees of intellectual disability [3]
- Behavioral abnormalities may include autism spectrum disorder (ASD) and ADHD [4]
- Language and sleeping problems may also be present [4]
It's worth noting that the context does not provide specific information on MRD26, but rather mentions it as a rare genetic neurodevelopmental disorder. The symptoms listed above are more general and can be associated with other conditions as well.
References: [3] - A rare genetic neurodevelopmental disorder characterized by global developmental delay (DD) and variable degrees of intellectual disability (ID) [4] - Jun 29, 2022 — Additional features may include behavioral abnormalities, such as autism spectrum disorder (ASD) and ADHD, as well as language and sleeping problems...
Additional Symptoms
- Global developmental delay
- Variable degrees of intellectual disability
- Language and sleeping problems
- Behavioral abnormalities (autism spectrum disorder and ADHD)
Diagnostic Tests
Based on the available information, here are some diagnostic tests that may be relevant for autosomal dominant intellectual developmental disorder 26:
- Clinical tests: There are 16 clinical tests available in the database for this condition. These tests can help identify the presence of the disorder and rule out other potential causes.
- Molecular Genetics Tests: Deletion/duplication analysis is one of the molecular genetics tests that may be used to diagnose autosomal dominant intellectual developmental disorder 26 (12 available). This test can help identify genetic mutations associated with the condition.
- Diagnostic exome sequencing: This test involves analyzing exome sequencing data in a predefined set of genes associated with non-syndromic intellectual disability, including autosomal dominant intellectual developmental disorder 26 (9).
- Chromosomal microarray analysis: This test can help identify chromosomal abnormalities that may be contributing to the condition.
- Testing for fragile X syndrome: Fragile X syndrome is a genetic disorder that can cause intellectual disability. Testing for this condition may be relevant if there are concerns about autosomal dominant intellectual developmental disorder 26.
It's essential to consult with a healthcare professional or a genetic counselor to determine the most appropriate diagnostic tests for an individual case. They can help interpret the results and provide guidance on next steps (3).
References: * [1] - There are 16 clinical tests available in the database for this condition. * [12] - Deletion/duplication analysis is one of the molecular genetics tests that may be used to diagnose autosomal dominant intellectual developmental disorder 26. * [9] - Diagnostic exome sequencing involves analyzing exome sequencing data in a predefined set of genes associated with non-syndromic intellectual disability, including autosomal dominant intellectual developmental disorder 26. * [3] - Consultation with a healthcare professional or genetic counselor is recommended to determine the most appropriate diagnostic tests.
Additional Diagnostic Tests
- Chromosomal microarray analysis
- Testing for fragile X syndrome
- Clinical Tests (16 available)
- duplication analysis (12 available)
- Diagnostic exome sequencing (9)
Treatment
Autosomal dominant intellectual developmental disorder 26 (MRD26) is a rare genetic condition that affects brain development and can lead to various challenges.
Treatment Options
While there are no specific treatments for MRD26, various medications may help manage associated symptoms. According to the search results, Risperidone has been documented as a treatment for disruptive, aggressive, and self-injurious behaviors in children with intellectual developmental disorders, including those caused by genetic mutations [4].
Other Considerations
It's essential to note that each individual with MRD26 may have unique needs and responses to treatment. A comprehensive care plan, developed in consultation with a multidisciplinary team of healthcare professionals, is crucial for addressing the complex needs associated with this condition.
Additional Resources
For more information on diagnosis, care, and treatment options, as well as other resources, you may want to consult Orphanet's summary on intellectual developmental disorders [5].
References: [1] - Not relevant to the query [2] - Not relevant to the query [3] - Not relevant to the query [4] - Risperidone is a well-documented treatment of disruptive, aggressive, and self-injurious behaviors in children with intellectual development disorder with good ... [5] - Orphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the ...
Recommended Medications
💊 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
The differential diagnosis for autosomal dominant intellectual developmental disorder 26 (WDR26-related ID) includes other chromatin disorders such as:
- Kabuki syndrome
- KAT6B-related disorders
- Mowat-Wilson syndrome
These conditions can present with similar symptoms and characteristics, making it essential to consider them in the differential diagnosis. [5][6]
Additionally, Bardet-Biedl syndrome (BBS) is another genetic disorder that may be considered in the differential diagnosis due to its overlapping features with WDR26-related ID. BBS is characterized by early-onset obesity, polydactyly, genital and kidney anomalies, developmental delay, and intellectual disability. [7]
It's worth noting that whole-exome sequencing can be a useful diagnostic approach for identifying molecular defects in patients with suspected genetic disorders, including WDR26-related ID. [8]
Additional Differential Diagnoses
- KAT6B-related disorders
- Kabuki syndrome
- Mowat-Wilson syndrome
- Bardet-Biedl syndrome 1
Additional Information
- rdf-schema#domain
- https://w3id.org/def/predibionto#has_symptom_1928
- owl#annotatedSource
- t345910
- oboInOwl#hasOBONamespace
- disease_ontology
- oboInOwl#id
- DOID:0070056
- core#notation
- DOID:0070056
- oboInOwl#hasDbXref
- MIM:615834
- IAO_0000115
- An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the AUTS2 gene on chromosome 7q11.22.
- rdf-schema#label
- autosomal dominant intellectual developmental disorder 26
- oboInOwl#hasExactSynonym
- MRD26
- rdf-schema#subClassOf
- http://purl.obolibrary.org/obo/DOID_0060307
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
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