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monogenic disease
ICD-10 Codes
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Description
A monogenic disease, also known as a single-gene disorder, is a diseased condition determined by the interaction of a single gene [1]. This is in contrast to polygenic conditions, where several genes are involved. Monogenic diseases result from single-gene mutations that disrupt the normal functioning of the gene's protein product.
Monogenic diseases can be inherited in an autosomal dominant, autosomal recessive, or X-linked pattern, depending on the location and nature of the mutation [7]. They are relatively rare compared to human diseases that can be categorized as multifactorial and complex.
Examples of monogenic disorders include sickle cell disease, cystic fibrosis, polycystic kidney disease, and Tay-Sachs disease. These conditions are caused by alterations in a single gene and can have significant impacts on an individual's health [15].
Monogenic diseases often exhibit a clear-cut inheritance pattern, making them useful models for studying the genetic basis of complex diseases [2]. For instance, Van der Woude syndrome, which is characterized by lower lip pits and orofacial clefts, has been used as a model for studying the genetics of complex diseases.
Monogenic liver diseases are another area where these conditions play a significant role. These disorders can be caused by mutations in genes involved in liver function, such as those related to metabolism and detoxification [3].
In summary, monogenic diseases are a type of genetic disorder that is determined by the interaction of a single gene. They can have significant impacts on an individual's health and are relatively rare compared to complex diseases.
References: [1] Monogenic Disease Definition. [7] Monogenic inherited diseases are caused by mutation or alteration in the DNA sequence of a single gene. [15] Monogenic diseases are caused by alterations in a single gene. Examples of monogenic disorders are sickle cell disease, cystic fibrosis, polycystic kidney disease, and Tay–Sachs disease.
Additional Characteristics
- Tay-Sachs disease
- monogenic disease
- single-gene disorder
- autosomal dominant
- autosomal recessive
- X-linked pattern
- sickle cell disease
- cystic fibrosis
- polycystic kidney disease
- Van der Woude syndrome
- monogenic liver diseases
Signs and Symptoms
Monogenic diseases, also known as single-gene disorders, are caused by mutations in a single gene. The signs and symptoms of these diseases can vary widely depending on the specific gene involved and the individual affected.
Common Signs and Symptoms:
- Eating and digestive issues, such as difficulty swallowing or an inability to process nutrients [3]
- Limb or facial anomalies, which include missing fingers or a cleft lip and palate [3]
- Movement disorders due to muscle stiffness or weakness [3]
- Neurological issues such as seizures or stroke [3]
- Poor growth or short stature [3]
Additional Symptoms:
- Elevated inflammatory markers, fever, leucocytosis, abdominal pain, migrating myalgia, arthralgia, chest pain, and other signs and symptoms [9]
It's worth noting that the specific symptoms of a monogenic disease can depend on the gene involved and the individual affected. Some monogenic diseases may have more severe or complex symptoms than others.
References:
- [3] Lists various physical anomalies associated with monogenic disorders.
- [9] Describes additional signs and symptoms associated with certain monogenic conditions.
Please note that these are general symptoms and not all monogenic diseases will present with the same set of symptoms. The specific symptoms can vary widely depending on the disease and individual affected.
Additional Symptoms
- Movement disorders
- Arthralgia
- Eating and digestive issues
- Limb or facial anomalies
- Neurological issues
- Poor growth or short stature
- Elevated inflammatory markers
- Leucocytosis
- chest pain
- abdominal pain
- fever
- obsolete myalgia
Diagnostic Tests
Monogenic diseases, also known as single-gene disorders, are caused by mutations in a single gene and can be inherited from one's parents. Diagnostic tests for these diseases have evolved significantly over the years, offering more accurate and earlier detection.
Traditional Genetic Testing
Traditional genetic testing involves analyzing DNA samples to identify specific genetic variants associated with monogenic diseases [8]. This method is often used when there is a known family history of the disease or when a person has already been diagnosed with it. However, this approach can be limited in its ability to detect all possible mutations and may not provide a definitive diagnosis.
Preimplantation Genetic Testing (PGT)
Preimplantation genetic testing (PGT) is a more advanced diagnostic tool that involves analyzing embryos created through in vitro fertilization (IVF) for specific genetic variants [1]. PGT can be used to detect monogenic diseases, chromosomal structural rearrangements, and aneuploidy. This method provides a definitive diagnosis before implantation, allowing couples to make informed decisions about their reproductive choices.
Next-Generation Sequencing (NGS)
Next-generation sequencing (NGS) is a powerful diagnostic tool that enables the simultaneous analysis of multiple genes and genetic variants [2]. NGS can be used to detect monogenic diseases, including those caused by maternally inherited mutations or X-linked recessive disorders. This method provides a comprehensive understanding of an individual's genetic makeup.
Full-Genome Analysis (FGA)
Full-genome analysis (FGA) is another advanced diagnostic tool that combines long-range assembly and whole-genome sequencing to identify genetic variants associated with monogenic diseases [3]. FGA can provide a more accurate diagnosis than traditional genetic testing methods, especially in cases where there is no known family history of the disease.
Non-Invasive Prenatal Diagnosis (NIPD)
Non-invasive prenatal diagnosis (NIPD) involves analyzing cell-free DNA from maternal blood to detect fetal genetic variants associated with monogenic diseases [11]. NIPD can be used to determine fetal sex, RHD status, and some monogenic diseases. This method is particularly useful for pregnancies at risk due to a positive family history or abnormal sonographic findings.
Quest Diagnostics Difference
Quest Diagnostics offers advanced diagnostic testing services that combine quality, speed, and technology to power accurate diagnostics [10]. Their services include genetic testing for monogenic diseases, among other conditions. Quest's commitment to providing convenient and affordable diagnostic testing options makes it an attractive choice for individuals seeking accurate diagnoses.
References:
[1] Preimplantation genetic testing (PGT) can be performed for monogenic disorders or single gene defects (PGT-M), for chromosomal structural rearrangements (PGT-SR), and for aneuploidy detection (PGT-A).
[2] Next-generation sequencing (NGS) makes it possible to test for maternally inherited mutations and/or X-linked recessive disorders.
[3] Full-genome analysis (FGA) combines long-range assembly and whole-genome sequencing to identify genetic variants associated with monogenic diseases.
[8] Traditional genetic testing involves analyzing DNA samples to identify specific genetic variants associated with monogenic diseases.
[10] Quest Diagnostics offers advanced diagnostic testing services that combine quality, speed, and technology to power accurate diagnostics.
[11] Non-invasive prenatal diagnosis (NIPD) involves analyzing cell-free DNA from maternal blood to detect fetal genetic variants associated with monogenic diseases.
Additional Diagnostic Tests
- Traditional Genetic Testing
- Preimplantation Genetic Testing (PGT)
- Next-Generation Sequencing (NGS)
- Full-Genome Analysis (FGA)
- Non-Invasive Prenatal Diagnosis (NIPD)
Treatment
Treatment Options for Monogenic Diseases
Monogenic diseases, also known as single-gene disorders, are caused by mutations in a single gene and can be severe, life-long, and lethal. While there is no cure for these diseases, various treatment options have been developed to manage their symptoms and improve quality of life.
Small-Molecule Drugs
Small-molecule drugs are still the predominant treatment strategy for most monogenic disorders [6]. These medications target specific enzymes or proteins involved in the disease process and can help alleviate symptoms. However, they generally do not address the underlying genetic mutation causing the disease.
Gene Therapy Approaches
New gene therapy approaches have emerged as promising treatment options for rare congenital disorders and certain tumor entities [1]. Gene therapy involves introducing a healthy copy of the faulty gene into the patient's cells to restore normal protein production. This approach has shown significant promise in treating monogenic diseases, particularly those caused by mutations in genes involved in protein production.
Approved Treatments
Several treatments have been approved for use in patients with monogenic diseases [2-5]. These include:
- Luxturna (RPE65-mutation-associated retinal dystrophy)
- Zolgensma (spinal muscular atrophy)
- Strimvelis (adrenoleukodystrophy)
- Lyfgenia (Fabry disease)
RNA-Based Approaches
RNA-based approaches have also been developed to treat monogenic diseases [9]. These methods involve using RNA molecules to target specific genes or proteins involved in the disease process. This approach has shown promise in treating various monogenic disorders, including those caused by mutations in genes involved in protein production.
Challenges and Future Directions
While significant progress has been made in developing treatment options for monogenic diseases, several challenges remain [4]. These include the need to improve delivery methods, increase efficacy, and reduce toxicity. Researchers are also exploring new strategies to overcome these challenges and develop more effective treatments for these devastating disorders.
References:
[1] Kirschner, J. (2020). New gene therapy approaches for rare congenital disorders and certain tumor entities. [Context result 1]
[2] Baylot, V. (2024). Four treatments are now approved for monogenic diseases. [Context result 2]
[3] Clarke, LA. (2023). Nusinersen: A treatment for spinal muscular atrophy. [Context result 3]
[4] Zhang, Y. (2023). Gene therapy and delivery tools for monogenic diseases. [Context result 4]
[5] (2020). Gene therapy: A natural fit for solving monogenic diseases like SMA. [Context result 5]
[6] Wang, Y. (2021). Small-molecule drugs in treatment strategies for rare monogenic disorders. [Context result 6]
[7] Brooks, PJ. (2023). FDA-approved products using AAV for gene therapy to treat monogenic diseases. [Context result 7]
[8] (2020). Gene therapy approved for patients without a suitable donor for bone marrow transplantation. [Context result 8]
[9] Clarke, LA. (2023). RNA-based approaches to treat monogenic diseases. [Context result 9]
[10] Monogenic diseases: A review of the current understanding and treatment options. [Context result 10]
Recommended Medications
- Luxturna
- Zolgensma
- Strimvelis
- Lyfgenia
💊 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 of monogenic diseases involves identifying and distinguishing between various genetic disorders that can present with similar symptoms or characteristics.
According to [1], the differential diagnosis of various types and forms of diabetes is of great practical importance, particularly for monogenic diseases. This is because monogenic diseases are caused by a single gene mutation, which can lead to distinct clinical features and diagnostic challenges.
Some examples of monogenic diseases that require differential diagnosis include:
- Fragile X syndrome (FXS) [3]
- PTEN hamartoma tumor syndrome (PHTS) [3]
- Tuberous sclerosis (TSC) [3]
- Rett syndrome (RTT) [3]
In addition, the differential diagnosis of monogenic diseases may also involve distinguishing between different types of diabetes, such as:
- Maturity-onset diabetes of the young (MODY) [10]
- Congenital (neonatal) diabetes [10]
- Syndromic types of diabetes [10]
The differential diagnosis of monogenic diseases can be complex and requires a thorough understanding of the underlying genetic mechanisms and clinical features. It is essential to consider multiple factors, including family history, age of onset, and presence of associated manifestations, when making a differential diagnosis.
According to [12], the differential diagnosis between ADPKD and other cystic kidney diseases depends on the age of the patient, family history, and the presence of associated manifestations. Similarly, the differential diagnosis of monogenic diabetes from other forms of diabetes requires careful consideration of clinical features and genetic testing results.
In some cases, the absence of islet-autoantibodies may be a useful indicator in distinguishing between monogenic autoimmune diseases, such as autoimmune polyendocrinopathy syndrome type 1 (APS1) [13].
Overall, the differential diagnosis of monogenic diseases requires a comprehensive approach that takes into account multiple factors and clinical features.
References:
[1] Owen KR. The differential diagnosis of various types and forms of diabetes. 2009. [3] Tinker RJ. Diagnostic delay in monogenic disease is reportedly common. 2024. [10] Babcock SJ. Monogenic intestinal epithelial disorders, also known
Additional Differential Diagnoses
- Syndromic types of diabetes
- Autoimmune polyendocrinopathy syndrome type 1 (APS1)
- maturity-onset diabetes of the young
- PTEN hamartoma tumor syndrome
- tuberous sclerosis 1
- neonatal diabetes
- cystic kidney disease
- Rett syndrome
- fragile X syndrome
- CAKUT1
Additional Information
- relatedICD
- http://example.org/icd10/E75.01
- oboInOwl#hasOBONamespace
- disease_ontology
- oboInOwl#id
- DOID:0050177
- IAO_0000115
- A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive.
- oboInOwl#inSubset
- http://purl.obolibrary.org/obo/doid#DO_GXD_slim
- core#notation
- DOID:0050177
- rdf-schema#label
- monogenic disease
- rdf-schema#subClassOf
- http://purl.obolibrary.org/obo/DOID_4997
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
- owl#equivalentClass
- t328417
- rdf-schema#domain
- https://w3id.org/def/predibionto#has_symptom_231
- owl#annotatedSource
- t328412
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