4 free views remaining today
autosomal genetic disease
ICD-10 Codes
Related ICD-10:
Description
Understanding Autosomal Genetic Diseases
Autosomal genetic diseases, also known as autosomal recessive disorders, are a group of conditions that occur when an individual inherits two copies of a mutated gene, one from each parent. This pattern of inheritance is characterized by the fact that the genes responsible for these diseases are located on the 22 non-sex chromosomes (autosomes), rather than on the sex chromosomes (X and Y).
Key Features
- Inheritance: Autosomal recessive disorders require an individual to inherit two copies of a mutated gene, one from each parent, to express the disease.
- Gene Location: The genes responsible for these diseases are located on the 22 non-sex chromosomes (autosomes).
- Examples: Cystic fibrosis, sickle cell anemia, and Tay-Sachs disease are examples of autosomal recessive disorders.
How Autosomal Recessive Disorders Are Passed Down
Autosomal recessive disorders are passed down from parents to their children in a specific way. Both parents must be carriers of the mutated gene, meaning they have one normal copy and one mutated copy of the gene. When both parents pass on their mutated genes to their child, the child inherits two copies of the mutated gene, resulting in the expression of the disease.
Examples of Autosomal Recessive Disorders
- Cystic Fibrosis: A genetic disorder that affects the respiratory and digestive systems.
- Sickle Cell Anemia: A blood disorder that affects hemoglobin production.
- Tay-Sachs Disease: A rare genetic disorder that affects nerve cells in the brain.
In Conclusion
Autosomal genetic diseases are a group of conditions that occur when an individual inherits two copies of a mutated gene, one from each parent. These disorders require specific inheritance patterns and are characterized by their location on the 22 non-sex chromosomes (autosomes). Understanding these diseases is crucial for early diagnosis and treatment.
References:
- [1] Autosomal refers to the 22 numbered chromosomes as opposed to the sex chromosomes (X and Y).
- [2] “Autosomal” means that the gene in question is located on one of the numbered, or non-sex, chromosomes. “Recessive” means that two copies of the mutated gene (one from each parent) are required to cause the disorder.
- [8] Examples of autosomal recessive disorders include cystic fibrosis, sickle cell anemia, and Tay-Sachs disease.
- [4] May 23, 2023 - To have a child born with what’s called an “autosomal recessive disease” like sickle cell disease or cystic fibrosis, both you and your partner must have a mutated (changed) gene that you pass on to your child.
Additional Characteristics
- Cystic Fibrosis
- Sickle Cell Anemia
- Tay-Sachs Disease
Signs and Symptoms
Autosomal genetic diseases, also known as autosomal recessive disorders, are conditions that occur when an individual inherits two copies of a mutated gene, one from each parent. The symptoms and signs of these diseases can vary depending on the specific condition, but here are some common ones:
- Organ enlargement: In many cases, individuals with autosomal genetic diseases may experience enlargement of organs such as the liver and spleen [1].
- Anemia: Anemia is a common symptom in people with autosomal recessive disorders, including conditions like cystic fibrosis and sickle cell anemia [6].
- Seizures and brain damage: Some individuals with autosomal genetic diseases may experience seizures and brain damage, which can be severe in some cases [1].
- Developmental problems: Certain autosomal recessive disorders can cause developmental problems, including issues related to growth and development [8].
It's worth noting that the severity and specific symptoms of autosomal genetic diseases can vary widely depending on the condition. Some conditions may also have additional symptoms not listed here.
References: [1] - Context result 1: May 23, 2023 — An enlarged liver and spleen, as well as anemia, are common. Some people also have seizures and brain damage. [6] - Context result 6: Examples of autosomal recessive disorders include cystic fibrosis, sickle cell anemia, and Tay-Sachs disease. [8] - Context result 8: Genetic disorders include certain types of birth defects, chronic diseases, developmental problems, and sensory deficits that are inherited from one or both parents.
Additional Symptoms
- Organ enlargement
- Seizures and brain damage
- Developmental problems
- anemia
Diagnostic Tests
Types of Diagnostic Tests for Autosomal Genetic Diseases
Autosomal genetic diseases are conditions that affect both males and females, and are caused by mutations in genes located on the non-sex chromosomes (autosomes). Diagnostic tests for these diseases have evolved significantly over the years, allowing for earlier detection and more accurate diagnosis. Here are some common types of diagnostic tests used to diagnose autosomal genetic diseases:
- Panel Testing: This test analyzes a specific set of genes known to be associated with autosomal genetic diseases [8]. Panel testing is often used as an initial screening tool to identify individuals who may carry a genetic mutation.
- Whole Exome Sequencing (WES): WES involves analyzing the protein-coding regions of the genome, which account for about 1% of the total DNA sequence [4]. This test can detect mutations in genes that are not included in panel testing.
- Whole Genome Sequencing: This test analyzes the entire genome, including non-coding regions, to identify genetic variations [4].
- Microarray Analysis: Microarrays can be used to determine whether an individual's DNA contains a duplication, deletion, or large stretches of repetitive sequences [7].
Diagnostic Approaches
In addition to these tests, diagnostic approaches may also involve:
- Physical Exams and Laboratory Tests: These can help diagnose many autosomal recessive disorders, allowing for early counseling, management, and treatment [9].
- Genetic Counseling: Genetic counselors can provide individuals with information about their genetic risk, discuss testing options, and offer guidance on reproductive decisions.
Importance of Early Detection
Early detection of autosomal genetic diseases is crucial for effective management and treatment. Diagnostic tests can help identify individuals who are at risk or have already developed a condition, allowing for timely intervention and improved outcomes [9].
References:
[4] - Whole exome sequencing/whole genome sequencing: These tests analyze the bulk of an individual's DNA to find genetic variations. [7] - In diagnostic testing, microarrays may be used to determine whether an individual's DNA contains a duplication, deletion, or large stretches of repetitive sequences. [8] - Types of genetic tests. Generally, there are three types of genetic testing used to diagnose PI: panel testing, whole exome sequencing (WES), and whole genome sequencing. [9] - by A Gulani · 2023 · Cited by 23 — Physical exams and laboratory tests can help to diagnose many autosomal recessive disorders so that counseling, management, and treatment can commence.
Additional Diagnostic Tests
- Panel Testing
- Whole Exome Sequencing (WES)
- Whole Genome Sequencing
- Microarray Analysis
Treatment
Autosomal dominant and autosomal recessive inheritance are pathways that traits pass onto the next generation [5]. Autosomal dominant inheritance means that a single copy of the mutated gene is enough to cause the condition, whereas autosomal recessive inheritance requires two copies of the mutated gene (one from each parent) to express the disease [6].
Regarding drug treatment for autosomal genetic diseases, there are some promising approaches. Gene therapy is a strategy that involves replacing or modifying a faulty gene with a healthy one to treat inherited disorders [3][4]. While still in its early stages, gene therapy has shown promise in treating certain autosomal dominant and recessive conditions.
For instance, the newest combination medication containing elexacaftor, ivacaftor, and tezacaftor (Trikafta) is approved for people age 12 years and older with a specific type of cystic fibrosis, which is an autosomal recessive disorder [7]. This medication works by targeting the underlying genetic mutation that causes the disease.
Additionally, gene therapy has been explored as a potential treatment for Huntington's disease (HD), an autosomal dominant genetic disease. HD is caused by a faulty gene that leads to progressive damage in the brain, resulting in cognitive and motor decline [12].
It's worth noting that existing drugs may also show promise in treating certain autosomal genetic diseases. For example, a drug used to treat another condition has been found to be effective in treating a rare genetic disorder caused by a deficiency in a gene that keeps the immune system's T cells from attacking cells of the body [14].
Overall, while there are some promising approaches to treating autosomal genetic diseases with drugs, more research is needed to fully understand their potential and limitations.
References: [3] Most treatment strategies for genetic disorders do not alter the underlying genetic mutation; however, a few disorders have been treated with gene therapy. [4] Gene therapy is a promising strategy for treating inherited disorders, but much research remains necessary before it can be considered an actual treatment option. [5] Autosomal dominant and autosomal recessive inheritance are pathways that traits pass onto the next generation. [6] Autosomal recessive inheritance means that the gene in question is located on one of the autosomes. These are numbered pairs of chromosomes, 1 through 22. [7] The newest combination medication containing elexacaftor, ivacaftor and tezacaftor (Trikafta) is approved for people age 12 years and older and ... [12] Huntington's disease (HD) is an autosomal dominant genetic disease, and the most fundamental treatment is gene therapy. [14] Existing drug shows promise as treatment for rare genetic disorder ...
💊 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
Understanding Autosomal Genetic Diseases
Autosomal genetic diseases are conditions that occur when there is a mutation in one or both copies of a gene, leading to a disorder or disease. In the context of autosomal genetic diseases, differential diagnosis refers to the process of identifying and distinguishing between different possible causes of a condition.
Key Points to Consider:
- Autosomal recessive disorders are caused by mutations in both copies of a gene, one inherited from each parent.
- Examples of autosomal recessive disorders include cystic fibrosis, sickle cell anemia, and Tay-Sachs disease [1][2].
- To have a child born with an autosomal recessive disease, both parents must be carriers of the mutated gene [8].
Differential Diagnosis in Autosomal Genetic Diseases
The differential diagnosis of autosomal genetic diseases involves identifying the specific genetic mutation responsible for the condition. This can be done through various diagnostic tests, such as genetic testing or DNA sequencing.
- A differential is a gear train that allows different speeds of rotation for two or more shafts [12].
- In mathematics, a differential is an expression based on the derivative of a function, useful for approximating certain values of the function [14].
Implications and Considerations
Understanding the concept of differential diagnosis in autosomal genetic diseases can have significant implications for individuals and families affected by these conditions.
- The term "differential" is also used to refer to an infinitesimal change in some varying quantity, which can be relevant in calculus and other mathematical contexts [10].
- In medicine, a differential diagnosis refers to the process of identifying and distinguishing between different possible causes of a condition [13].
References:
[1] Examples of autosomal recessive disorders include cystic fibrosis, sickle cell anemia, and Tay-Sachs disease. [2] Cystic fibrosis is a common example of an autosomal recessive disorder. [8] To have a child born with an autosomal recessive disease, both parents must be carriers of the mutated gene. [10] The term "differential" is also used to refer to an infinitesimal change in some varying quantity. [12] A differential is a gear train that allows different speeds of rotation for two or more shafts. [13] In medicine, a differential diagnosis refers to the process of identifying and distinguishing between different possible causes of a condition. [14] In mathematics, a differential is an expression based on the derivative of a function.
Additional Differential Diagnoses
- Autosomal recessive disorders
- sickle cell anemia
- cystic fibrosis
- Tay-Sachs disease
Additional Information
- oboInOwl#hasOBONamespace
- disease_ontology
- oboInOwl#created_by
- lschriml
- oboInOwl#creation_date
- 2012-07-24T04:45:53Z
- oboInOwl#id
- DOID:0050739
- IAO_0000115
- A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes.
- oboInOwl#inSubset
- http://purl.obolibrary.org/obo/doid#DO_MGI_slim
- relatedICD
- http://example.org/icd10/E72.11
- core#notation
- DOID:0050739
- rdf-schema#label
- autosomal genetic disease
- rdf-schema#subClassOf
- http://purl.obolibrary.org/obo/DOID_0070512
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
- owl#equivalentClass
- t332690
- rdf-schema#domain
- https://w3id.org/def/predibionto#has_symptom_775
- owl#annotatedSource
- t332517
Medical Disclaimer: The information provided on this website is for general informational and educational purposes only.
It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.