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X-linked monogenic disease
ICD-10 Codes
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Description
X-linked Monogenic Diseases: A Description
X-linked monogenic diseases are a type of genetic disorder that affects individuals due to mutations in genes located on the X chromosome. These conditions are characterized by their unique inheritance pattern, where males are more likely to be affected than females.
- Definition: X-linked monogenic diseases are caused by mutations in a single gene on the X chromosome, leading to a specific disease or condition.
- Inheritance Pattern: The inheritance of these genetic disorders can be dominant, recessive, or linked to sex chromosomes. Males, who have only one copy of all genes on the X chromosome, are more likely to be affected than females.
- Examples: Fragile X syndrome is a well-known example of an X-linked monogenic disease, caused by a mutation in the FMR-1 gene on the X chromosome.
Key Characteristics
- Sex-linked: X-linked monogenic diseases are associated with mutations in genes on the X chromosome.
- Monogenic: These conditions are caused by mutations in a single gene, rather than multiple genes.
- Inherited: The inheritance of these genetic disorders can be dominant, recessive, or linked to sex chromosomes.
References
- [1] X-linked monogenic diseases involve the sex chromosomes, X and Y chromosomes. (Source: 1)
- A mutation in one copy of an X-linked gene will result in disease for both males and females in X-linked dominant diseases. (Source: 4)
- Males are more likely to be affected by X-linked genetic disorders than females due to their single X chromosome. (Source: 14)
Note: The above description is based on the information provided in the search results, specifically sources [1], [4], and [14].
Additional Characteristics
- X-linked monogenic diseases are a type of genetic disorder that affects individuals due to mutations in genes located on the X chromosome.
- These conditions are characterized by their unique inheritance pattern, where males are more likely to be affected than females.
- Males, who have only one copy of all genes on the X chromosome, are more likely to be affected than females.
- Fragile X syndrome is a well-known example of an X-linked monogenic disease, caused by a mutation in the FMR-1 gene on the X chromosome.
- X-linked monogenic diseases involve the sex chromosomes, X and Y chromosomes.
- A mutation in one copy of an X-linked gene will result in disease for both males and females in X-linked dominant diseases.
- Males are more likely to be affected by X-linked genetic disorders than females due to their single X chromosome.
Signs and Symptoms
Common Signs and Symptoms of X-linked Monogenic Diseases
X-linked monogenic diseases are a group of disorders caused by mutations in genes on the X chromosome. These conditions can affect both males and females, but the symptoms and severity may vary depending on the specific disease.
- Infectious and Immune-Related Issues: Individuals with X-linked monogenic diseases often experience life-threatening infections, autoimmunity, immune dysregulation, inflammation, and/or malignancy [2].
- Neurological Symptoms: Some of these conditions can cause developmental delay, global developmental delay, hyperactivity, hyperreflexia, seizures, anxiety, depression, and autistic behaviors such as hand flapping or performing repetitive tasks [6].
- Musculoskeletal Issues: Affected individuals may experience progressive stiffness and weakness in their legs (paraparesis), urinary and genital tract disorders, and other musculoskeletal problems [5].
- Eating and Digestive Issues: Some X-linked monogenic diseases can cause difficulty swallowing or an inability to process nutrients, leading to eating and digestive issues [3].
Additional Symptoms
Other symptoms associated with X-linked monogenic diseases include:
- Aggressive behavior
- Delayed speech and language development
- Global developmental delay
- Hyperactivity
- Limb or facial anomalies (e.g., missing fingers)
- Seizures
It's essential to note that the specific symptoms and severity of these conditions can vary depending on the individual and the particular disease. If you suspect someone may have an X-linked monogenic disease, it's crucial to consult with a medical professional for proper diagnosis and treatment.
References: [1] Not provided (since there is no relevant information in the search results) [2] 2. A heterogeneous group of monogenic disorders characterized by life-threatening infections, autoimmunity, immune dysregulation, inflammation and/or malignancy. [3] 3. Eating and digestive issues, such as difficulty swallowing or an inability to process nutrients. Limb or facial anomalies, which include missing fingers or a ... [5] 5. Oct 26, 2022 — Affected individuals develop progressive stiffness and weakness in their legs (paraparesis), experience urinary and genital tract disorders, and ... [6] by WL Stone · 2023 · Cited by 32 — History and Physical · Autistic behaviors (eg, hand flapping, performing repetitive tasks) · Seizures · Developmental delay · Anxiety and depression.
Additional Symptoms
- autoimmunity
- immune dysregulation
- malignancy
- global developmental delay
- autistic behaviors (e.g., hand flapping, performing repetitive tasks)
- paraparesis
- urinary and genital tract disorders
- eating and digestive issues (difficulty swallowing or inability to process nutrients)
- limb or facial anomalies (missing fingers)
- delayed speech and language development
- aggressive behavior
- hyperactivity
- inflammation
- hyperreflexia
- anxiety
- depression
- developmental delay
- seizures
- life-threatening infections
Diagnostic Tests
Based on the provided context, it appears that diagnostic tests for X-linked monogenic diseases are available.
- Next generation sequencing (NGS) and digital PCR (dPCR) make it possible to test for maternally inherited mutations and/or X-linked recessive conditions [1].
- Genetic testing of monogenic diseases includes the following diseases: Acute Intermittent Porphyria, Agenesis of the Corpus Callosum with Peripheral Megalencephaly, and others [4][5].
- Monogenic disease are always tested in combination with linked STR markers. Mutation analysis is performed by using minisequencing technique (if the mutations are known) or next-generation sequencing (NGS) [4].
It's worth noting that genetic counseling for Preimplantation Genetic Testing (PGT) is useful in cases of Mendelian disorders,
Additional Diagnostic Tests
- NGS
- dPCR
- maternally inherited mutations
- X-linked recessive conditions
- Acute Intermittent Porphyria
- Agenesis of the Corpus Callosum with Peripheral Megalencephaly
- STR markers
- minisequencing technique
- next-generation sequencing (NGS)
Treatment
Treatment Options for X-linked Monogenic Diseases
X-linked monogenic diseases are genetic disorders caused by mutations on the X chromosome, which can lead to severe and life-long conditions. Fortunately, various treatment options are available to manage these diseases.
- Gene Therapy: Gene therapy has been successfully used to treat patients with severe combined immunodeficiency (ADA-SCID), a type of X-linked monogenic disease [1]. This approach involves replacing the faulty gene with a healthy copy, which can restore normal protein production.
- Nusinersen: Nusinersen is an approved treatment for spinal muscular atrophy (SMA), another X-linked monogenic disease [3]. It works by restoring protein production affected by variants in the SMN1 gene.
- Exon Skipping: Exon skipping is a therapeutic approach used to treat Duchenne muscular dystrophy (DMD), an X-linked condition where the affected gene leads to muscle degeneration [6]. This method involves using antisense oligonucleotides (ASOs) to skip the mutated exon and restore normal protein production.
- Lentiviral-based Gene Therapy: Lentiviral-based gene therapy has been used to treat inherited metabolic disorders, including X-linked adrenoleukodystrophy [7]. This approach involves using lentiviruses to deliver healthy copies of the affected gene to cells.
These treatment options
Recommended Medications
- Gene Therapy
- Nusinersen
- Exon Skipping
- Lentiviral-based Gene Therapy
💊 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 Differential Diagnosis in X-linked Monogenic Diseases
The differential diagnosis of X-linked monogenic diseases involves identifying and ruling out other possible causes of a patient's symptoms, particularly those that are inherited in an X-linked recessive pattern. This is crucial for accurate diagnosis and treatment.
Key Considerations:
- X-linked inheritance: X-linked disorders are typically recognized by the predominance of clinical manifestations in males, since males carry only one X chromosome and are reliant on a single copy of the gene to express the trait (8).
- Male bias: The male bias in developmental disorders suggests that monogenic causes on the X chromosome cannot account for this phenomenon (1).
- Differential diagnosis: Differential diagnosis involves considering multiple possible causes of a patient's symptoms, including other genetic conditions, environmental factors, and acquired diseases.
Common X-linked Monogenic Disorders:
- Fragile X syndrome (FXS): A genetic disorder caused by mutations in the FMR1 gene on the X chromosome, leading to intellectual disability, behavioral problems, and physical characteristics such as a long face and large ears (7).
- PTEN hamartoma tumor syndrome (PHTS): A rare genetic disorder characterized by the development of tumors and other abnormalities due to mutations in the PTEN gene on the X chromosome (7).
- Tuberous sclerosis (TSC): A genetic disorder caused by mutations in either the TSC1 or TSC2 genes, leading to the growth of non-cancerous tumors in various parts of the body (7).
Other Considerations:
- VLCFA accumulation: X-linked adrenoleukodystrophy (X-ALD) is a monogenic disorder that can cause VLCFA accumulation, which must be considered in the differential diagnosis of this condition (3).
- Female carriers: Some X-linked recessive disorders exhibit a phenotype in female carriers, which can help establish diagnosis and yield insights into disease mechanisms (4).
References:
- HC Martin et al., "Selected Monogenic Disorders in the Differential Diagnosis of Cerebrotendinous Xanthomatosis," 2021.
- C Wiesinger et al., "Inheritance and frequency of X-ALD," 2015.
- SR De Silva et al., "Many are X-linked recessive, but several exhibit a phenotype in female carriers," 2021.
- X-linked recessive inheritance is a way a genetic trait or condition can be passed down from parent to child through mutations (changes) in a gene on the X chromosome (5).
- Monogenic diseases are caused by mutations affecting only one gene and have a dominant, recessive, or X-linked mode of inheritance (6).
Additional Differential Diagnoses
- X-linked recessive inheritance
- X-linked inheritance
- VLCFA accumulation
- Female carriers
- PTEN hamartoma tumor syndrome
- tuberous sclerosis 1
- fragile X syndrome
Additional Information
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