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Y-linked monogenic disease
ICD-10 Codes
Related ICD-10:
Description
A Y-linked monogenic disease is a type of genetic disorder that is caused by mutations on the Y chromosome, one of the two sex chromosomes in humans.
Characteristics:
- Affect only males, as females have two X chromosomes and one Y chromosome, but males have one X and one Y chromosome.
- Caused by mutations on the Y chromosome, which can lead to various health problems.
- Can be inherited from an affected father, who passes on the mutated Y chromosome to his sons.
Definition:
A monogenic disease that has_material_basis_in mutations on the Y chromosome. (Source: Disease Ontology Definition)
Key Points:
- Y-linked monogenic diseases are rare and can have significant health implications for males.
- Females are not affected by these diseases, as they do not inherit the mutated Y chromosome.
- These diseases are caused by specific mutations on the Y chromosome, which can be inherited from an affected father.
References:
[10] A condition is considered Y-linked if the altered gene that causes the disorder is located on the Y chromosome... (Source: context 10) [11] Definition: A monogenic disease that has_material_basis_in mutations on the Y chromosome. (Source: context 11) [12] Disease Ontology Definition:A monogenic disease that has_material_basis_in mutations on the Y chromosome. (Source: context 12) [13] Definition. A monogenic disease that has_material_basis_in mutations on the Y chromosome. [1]. (Source: context 13)
Additional Characteristics
- A Y-linked monogenic disease is a type of genetic disorder that is caused by mutations on the Y chromosome, one of the two sex chromosomes in humans.
- Affect only males, as females have two X chromosomes and one Y chromosome, but males have one X and one Y chromosome.
- Caused by mutations on the Y chromosome, which can lead to various health problems.
- Can be inherited from an affected father, who passes on the mutated Y chromosome to his sons.
- Y-linked monogenic diseases are rare and can have significant health implications for males.
- Females are not affected by these diseases, as they do not inherit the mutated Y chromosome.
- These diseases are caused by specific mutations on the Y chromosome, which can be inherited from an affected father.
Signs and Symptoms
Y-linked monogenic diseases are extremely rare conditions that are caused by mutations in a single
Additional Symptoms
- caused by mutations
- extremely rare conditions
Diagnostic Tests
Understanding Y-linked Monogenic Diseases
Y-linked monogenic diseases are conditions caused by mutations in genes located on the Y chromosome, one of the two sex chromosomes. These diseases are inherited in a pattern where only males can be affected, as females have two X chromosomes and one Y chromosome, which makes it unlikely for them to inherit a mutated gene from their mother.
Diagnostic Tests
The diagnostic tests for Y-linked monogenic diseases typically involve genetic testing to identify the specific mutation causing the condition. Some common diagnostic tests include:
- Genetic sequencing: This test involves analyzing the DNA sequence of the Y chromosome to identify any mutations.
- PCR (Polymerase Chain Reaction): This test is used to amplify and detect specific DNA sequences, including those associated with Y-linked monogenic diseases.
- Microarray analysis: This test uses a microarray chip to analyze the expression levels of genes on the Y chromosome.
Specific Diagnostic Tests
Some specific diagnostic tests for Y-linked monogenic diseases include:
- SRY gene testing: The SRY gene is located on the Y chromosome and plays a crucial role in sex determination. Testing for mutations in this gene can help diagnose conditions such as Swyer syndrome.
- AZF gene testing: The AZF region on the Y chromosome contains genes involved in spermatogenesis. Mutations in these genes can cause infertility or other reproductive issues.
References
- [7] A condition is considered Y-linked if the altered gene that causes the disorder is located on the Y chromosome, one of the two sex chromosomes.
- [8] We summarized phenotypes and laboratory findings for more than 50 monogenic disorders and suggest a diagnostic strategy to identify these extremely rare conditions.
Additional Diagnostic Tests
- PCR (Polymerase Chain Reaction)
- Genetic sequencing
- Microarray analysis
- SRY gene testing
- AZF gene testing
Treatment
I couldn't find any information on "Y-linked monogenic disease". However, I can provide some general information on monogenic diseases and their treatment.
Monogenic diseases are caused by mutations in a single gene and are typically inherited in an autosomal dominant or recessive pattern. They can affect various organs and systems, such as the nervous system (e.g., Huntington's disease), muscles (e.g., muscular dystrophy), skin (e.g., epidermolysis bullosa), and others.
Treatment for monogenic diseases often depends on the specific condition and its severity. Some treatments may include:
- Gene therapy: This involves replacing or repairing the faulty gene with a healthy copy.
- Pharmacological interventions: Medications can be used to manage symptoms, slow disease progression, or even reverse some conditions (e.g., cystic fibrosis).
- Supportive care: Providing supportive care, such as physical therapy, occupational therapy, and speech therapy, can help individuals with monogenic diseases maintain their quality of life.
- Surgical interventions: In some cases, surgery may be necessary to correct anatomical abnormalities or remove affected tissue.
However, I couldn't find any specific information on Y-linked monogenic disease, which suggests that it might not be a recognized medical condition. If you could provide more context or clarify what you mean by "Y-linked," I'd be happy to try and assist you further.
Recommended Medications
- Supportive care
- Gene therapy
- Surgical interventions
- Pharmacological interventions
💊 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 Y-linked Monogenic Diseases
Y-linked disorders are a type of genetic condition that affects males, as they inherit the Y chromosome from their father. These conditions are often polygenic, meaning they involve multiple genes, and can be caused by spontaneous mutations or environmental changes [1].
Key Considerations in Differential Diagnosis
When considering differential diagnosis for Y-linked monogenic diseases, it's essential to note that most of these disorders are monogenic, meaning they're caused by a mutation affecting only one gene. This is in contrast to polygenic conditions, which involve multiple genes [2].
Examples of Monogenic Diseases
Some examples of monogenic diseases include:
- Fragile X syndrome (FXS)
- PTEN hamartoma tumor syndrome (PHTS)
- Tuberous sclerosis (TSC)
- Rett syndrome (RTT)
These conditions are often inherited in an autosomal dominant or recessive pattern, and can be caused by mutations affecting a single gene [3].
Differential Diagnosis
In the context of differential diagnosis for Y-linked monogenic diseases, it's crucial to consider the following factors:
- Mode of inheritance: Autosomal dominant, recessive, or X-linked
- Gene mutation: Spontaneous or environmental changes
- Clinical presentation: Symptoms and signs specific to each condition
By considering these factors, healthcare professionals can narrow down the differential diagnosis for Y-linked monogenic diseases and provide an accurate diagnosis [4].
References
[1] Yazdi, F. (2023). Monogenic Disorders of Interest in the Differential Diagnosis of Noonan Syndrome with Multiple Lentigines.
[2] Salguero, MV. (2023). Monogenic diabetes: A review of the literature.
[3] Hannan, FM. (2019). The genetics of metabolic bone diseases.
[4] Babcock, SJ. (2023). Monogenic intestinal epithelial disorders: A review of the literature.
Note: The above response is based on the provided context and search results.
Additional Differential Diagnoses
Additional Information
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- disease_ontology
- oboInOwl#created_by
- lschriml
- oboInOwl#creation_date
- 2012-07-24T12:51:47Z
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- IAO_0000115
- A monogenic disease that has_material_basis_in mutations on the Y chromosome.
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- http://purl.obolibrary.org/obo/doid#DO_MGI_slim
- relatedICD
- http://example.org/icd10/E85.2
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- http://purl.obolibrary.org/obo/DOID_0111778
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- owl#equivalentClass
- t332283
- rdf-schema#domain
- https://w3id.org/def/predibionto#has_symptom_774
- owl#annotatedSource
- t331973
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