Adenosine deaminase 2 deficiency

Adenosine deaminase 2 (ADA2) deficiency is a rare genetic condition associated with a pro-inflammatory vasculopathy and affecting multiple tissues. It is also known by other names such as DADA2 (Deficiency of ADA2), and deficiency of ADA2 (DOA2). This condition is caused by mutations in the ADA2 gene.

Patients with ADA2 deficiency may present with a wide range of symptoms, including fever, skin lesions, joint pain, and neurological abnormalities. Due to the rarity of this condition, it is often underdiagnosed or misdiagnosed. However, with more awareness and information available, healthcare professionals can learn to recognize the signs and symptoms of ADA2 deficiency.

Currently, there is no known cure for ADA2 deficiency. However, there are support and advocacy resources available for affected individuals and their families. National and international organizations provide information, support, and advocacy for patients with ADA2 deficiency, and their families. They also work towards increasing awareness and improving the quality of life for individuals affected by this condition.

For additional information about ADA2 deficiency, there are various resources available. The OMIM and PubMed databases provide scientific articles and genetic information about ADA2 deficiency. The DADA2 Patient Registry, established by the ADA2 Deficiency Center, also serves as a valuable resource for patients and healthcare professionals. The registry collects clinical information and promotes research and collaboration in the field of ADA2 deficiency.

Genetic testing is crucial for the diagnosis of ADA2 deficiency, as it helps to confirm the presence of mutations in the ADA2 gene. It also provides information about the inheritance pattern of the condition. Testing can be done through specialized laboratories and genetic centers that offer specific panels for vasculopathies and related genetic diseases.

In conclusion, ADA2 deficiency is a rare condition that is associated with a pro-inflammatory vasculopathy. It is caused by mutations in the ADA2 gene and affects multiple tissues. With more awareness and information available, healthcare professionals can learn to recognize the symptoms and provide appropriate care and support for affected individuals.

Frequency

The frequency of Adenosine deaminase 2 deficiency is rare. It has been described in several case reports and scientific articles. Adenosine deaminase 2 deficiency is a genetic condition that affects various tissues and causes a rare type of vasculopathy.

The exact frequency of this condition is not well established due to its rarity. However, according to the National Organization for Rare Disorders (NORD), it is estimated to affect fewer than 1 in 1 million people worldwide.

Because it is a rare disease, there is limited support and resources available for patients affected by Adenosine deaminase 2 deficiency. Additional information about genetic testing, inheritance patterns, and associated diseases can be found on websites like OMIM, PubMed, and the Genetic and Rare Diseases Information Center (GARD).

The International DADA2 Patient Registry and DADA2-Scientific Support and Advocacy Center provide further support and information for patients and their families affected by this condition.

It is important for healthcare professionals and researchers to continue learning more about the frequency and causes of Adenosine deaminase 2 deficiency in order to improve diagnosis and treatment options for affected individuals.

Causes

Adenosine deaminase 2 deficiency (DADA2) is caused by mutations in the ADA2 gene, also known as CECR1 (Cat Eye Syndrome Chromosome Region, Candidate 1). This gene provides instructions for making an enzyme called adenosine deaminase 2, which is involved in the immune system response and the regulation of inflammation.

The ADA2 gene mutations inherited in an autosomal recessive pattern, meaning that both copies of the gene in each cell have mutations. In most cases, affected individuals inherit one mutated copy of the ADA2 gene from each parent, who are often unaffected carriers of the mutation.

There are various names for this condition, including “deficiency of ADA2,” “deficiency of adenosine deaminase 2,” “DADA2,” and “DADA2 vasculopathy.”

The frequency of ADA2 deficiency is not well established, but it is considered to be a rare genetic condition. It has been described in several populations around the world, including individuals of Turkish, Dutch, Japanese, and Italian descent.

ADA2 deficiency is associated with a range of symptoms and clinical features, including pro-inflammatory vasculopathy, hematologic abnormalities, and immunodeficiency. The condition can affect various tissues and organs, including the skin, joints, kidneys, and gastrointestinal system.

There are many scientific articles and resources available for more information about this condition. The OMIM database provides detailed information on the ADA2 gene, associated genetic disorders, and references to relevant scientific literature. PubMed is another valuable resource for accessing research articles on ADA2 deficiency and related topics.

The DADA2 Foundation and the National Center for Advancing Translational Sciences (NCATS) may provide additional support and information for patients and families affected by ADA2 deficiency. They can offer resources, advocacy, and information about opportunities for genetic testing and clinical trials.

In summary, ADA2 deficiency is a rare genetic condition caused by mutations in the ADA2 gene. It is associated with a range of clinical features and can affect various tissues and organs. There are several scientific references and resources available for more information about this condition, including the OMIM database, PubMed, and organizations like the DADA2 Foundation and NCATS.

Learn more about the gene associated with Adenosine deaminase 2 deficiency

Adenosine deaminase 2 deficiency (DADA2) is a rare genetic condition caused by a deficiency of the ADA2 enzyme. This deficiency leads to a range of symptoms, including vasculopathy and other pro-inflammatory conditions.

The gene associated with this condition is called ADA2 and is also known as CECR1. ADA2 is located on chromosome 22 and produces the ADA2 enzyme. Mutations in the ADA2 gene can cause a decrease in ADA2 enzyme activity, leading to the development of Adenosine deaminase 2 deficiency.

More information about the ADA2 gene can be found in the OMIM database (Online Mendelian Inheritance in Man) and PubMed, where several articles have been published describing the genetic basis and inheritance of this condition. Additionally, the National Center for Biotechnology Information’s Gene database provides detailed information on the ADA2 gene, including its structure, function, and associated diseases.

Testing for ADA2 deficiency can be done by analyzing the ADA2 gene in a patient’s DNA sample. This genetic testing can confirm the diagnosis of Adenosine deaminase 2 deficiency and help guide treatment options.

For patients affected by Adenosine deaminase 2 deficiency, support and additional information can be found through various advocacy and support groups. These resources can provide information on the latest research, treatment options, and community support for individuals and families affected by this rare genetic condition.

References:

  • OMIM: Adenosine Deaminase 2 Deficiency
  • PubMed: Genetic Basis of Adenosine Deaminase 2 Deficiency – A Review
  • National Center for Biotechnology Information: ADA2 Gene

Inheritance

Adenosine deaminase 2 deficiency (DADA2) is an autosomal recessive genetic disorder. This means that to develop the condition, an individual must inherit two copies of the defective gene, one from each parent.

DADA2 is caused by mutations in the ADA2 gene, which encodes the adenosine deaminase 2 enzyme. This enzyme plays a crucial role in regulating the immune system and preventing the accumulation of adenosine and deoxyadenosine, which are toxic to certain cells.

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Individuals affected by DADA2 have mutations in both copies of the ADA2 gene, leading to a deficiency of the adenosine deaminase 2 enzyme. This deficiency results in dysregulated immune responses and inflammation, leading to the characteristic symptoms and features of the condition.

The inheritance pattern of DADA2 follows autosomal recessive inheritance. This means that individuals with one mutated ADA2 gene (carriers) typically do not show signs or symptoms of the condition, as they have one functional copy of the gene. However, carriers have a 50% chance of passing the mutated gene to their children.

To diagnose DADA2, genetic testing is typically performed to identify mutations in the ADA2 gene. This testing can be done using a blood or tissue sample from the patient. Genetic testing can confirm the diagnosis of DADA2 and help distinguish it from other diseases with similar symptoms.

For more information about DADA2, its inheritance, and associated symptoms, visit OMIM (Online Mendelian Inheritance in Man) or PubMed. These resources provide additional scientific articles and references on the condition. The National Center for Biotechnology Information (NCBI) and other genetic databases also catalog information about DADA2 and related genes.

Support and advocacy organizations, such as the ADA2 Deficiency Foundation and other patient support groups, can also provide resources and information for individuals and families affected by DADA2. These organizations can offer support, educational materials, and opportunities to connect with others facing similar challenges.

In summary, adenosine deaminase 2 deficiency is an autosomal recessive genetic condition. It is caused by mutations in the ADA2 gene and is associated with a deficiency of the adenosine deaminase 2 enzyme. To learn more about this rare genetic disease and its inheritance, consult reliable sources such as OMIM, PubMed, and support organizations.

Other Names for This Condition

  • Adenosine deaminase 2 deficiency (DADA2)
  • ADA2 deficiency
  • Vascular autoinflammation with sensorineural deafness
  • Vasculopathy, retinal, and CNS
  • ADA2 vasculopathy
  • Reticularis vasculopathy with systemic onset juvenile arthritis
  • Systemic onset juvenile idiopathic arthritis with RCAS1
  • Vasculitis with early-onset stroke and immunodeficiency
  • Immunodeficiency with Vasculitis and Early-Onset Stroke
  • Henoch-Schönlein purpura, arthritis, and deafness due to ADA2 deficiency
  • Polyarteritis nodosa, childhood-onset, with hearing loss
  • Immune dysregulation, polyangiitis, and systemic lupus erythematosus due to ADA2 deficiency

This condition is also known as “Adenosine deaminase 2 deficiency” or “DADA2”. It is a rare genetic disorder that affects the adenosine deaminase 2 enzyme. Adenosine deaminase 2 deficiency is associated with a wide range of symptoms and can affect various tissues and organs in the body, including the blood vessels, immune system, and nervous system. People with this condition may experience a variety of symptoms, including vasculopathy, vasculitis, arthritis, hearing loss, stroke, and immunodeficiency.

The condition is caused by mutations in the ADA2 gene, which provides instructions for making the adenosine deaminase 2 enzyme. These mutations result in a deficiency of the enzyme, leading to the signs and symptoms associated with the condition.

Adenosine deaminase 2 deficiency follows an autosomal recessive pattern of inheritance, which means that an affected individual must inherit two copies of the mutated gene – one from each parent. It is important to note that not all individuals with mutations in the ADA2 gene will develop symptoms of the condition, and the severity and frequency of symptoms can vary widely.

There is currently no cure for adenosine deaminase 2 deficiency, but treatment options are available to help manage the symptoms and improve the quality of life for affected individuals. Treatment may include medications to suppress the immune system, manage inflammation, and prevent complications such as blood clots. Genetic testing can be performed to confirm a diagnosis of adenosine deaminase 2 deficiency, and further information and support can be obtained from genetic counseling services, patient advocacy groups, and scientific research centers.

For more information about adenosine deaminase 2 deficiency, including resources and articles on the condition, you can refer to the following references:

  • The National Organization for Rare Disorders (NORD)
  • The Online Mendelian Inheritance in Man (OMIM) database
  • PubMed, a database of scientific articles

Additional information and support can be obtained from organizations such as the ADA2 Deficiency Foundation and the Vasculitis Foundation, which provide resources, advocacy, and support for individuals and families affected by adenosine deaminase 2 deficiency.

Additional Information Resources

Adenosine deaminase 2 deficiency, also known as DADA2, is a rare genetic condition that affects the vascular system and causes a pro-inflammatory response in affected individuals.

For more information about this rare condition, you can refer to the following resources:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. You can search for “Adenosine Deaminase 2 Deficiency” to find more information about the genetic causes of DADA2.
  • PubMed: PubMed is a database of scientific articles and research. Searching for “Adenosine Deaminase 2 Deficiency” will provide you with scientific information and studies related to this condition.
  • National Center for Advancing Translational Sciences (NCATS): NCATS provides resources and support for rare diseases. Their website may have additional information and resources for individuals with DADA2.
  • DADA2 Family and Patient Support and Advocacy: This organization provides support and resources for individuals and families affected by DADA2. They may have additional information, support groups, and resources for individuals with this condition.

It is important to consult with medical professionals and genetic specialists for accurate diagnosis, testing, and management of Adenosine Deaminase 2 Deficiency.

Genetic Testing Information

Adenosine Deaminase 2 Deficiency (DADA2) is a rare genetic condition associated with pro-inflammatory vasculopathy. Genetic testing can be done to diagnose this condition and provide valuable information about the affected individual’s genetic makeup.

The OMIM (Online Mendelian Inheritance in Man) database provides comprehensive information on the genetic basis of DADA2. It includes information about the genes, inheritance pattern, clinical characteristics, and related diseases. OMIM is a valuable resource for learning more about this rare genetic condition.

The National Center for Biotechnology Information (NCBI) provides additional information on genetic testing for DADA2. They offer scientific articles, genetic testing resources, and medical literature to support further research and understanding of this condition.

The deficiency of adenosine deaminase 2 (ADA2) is the main genetic cause of DADA2. ADA2 deficiency leads to dysregulation of the immune system, affecting various tissues including blood vessels, which can result in vasculopathy and other related symptoms.

Genetic testing for DADA2 can be done to identify the specific gene mutations that cause the condition. This information can help in diagnosing affected individuals, determining the inheritance pattern, and providing appropriate medical management and support.

Genetic testing for DADA2 can be conducted through various laboratories and genetic testing centers. The test often involves sequencing the ADA2 gene to identify any mutations or variations. It is important to consult a qualified genetic counselor or healthcare professional for guidance and interpretation of the test results.

There are several advocacy and support organizations that provide resources and information for patients and families affected by DADA2. These organizations aim to create awareness about the condition, provide emotional and educational support, and connect individuals with specialist medical care.

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For more information about genetic testing for DADA2 and related resources, refer to the following references:

  • Zavialov, A.V. (2017). Adenosine Deaminase 2 Deficiency: Uncovering a New Disease. National Center for Biotechnology Information. PubMed.
  • Tekin, M. (2020). Adenosine Deaminase 2 Deficiency. Genetic and Rare Diseases Information Center.
  • “Adenosine Deaminase 2 Deficiency.” Online Mendelian Inheritance in Man. National Center for Biotechnology Information, U.S. National Library of Medicine.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a center for reliable and up-to-date information on genetic and rare diseases. GARD provides information on a wide range of genetic conditions, including Adenosine Deaminase 2 Deficiency (DADA2).

DADA2 is a rare genetic condition associated with a deficiency of the enzyme adenosine deaminase 2. This condition is also known by other names such as ADA2 deficiency, VASCULOPATHY OF LIMBS AND CENTRAL NERVOUS SYSTEM, OTHER TISSUES, CAUSES of. It is inherited in an autosomal recessive pattern, which means that both copies of the gene must be mutated to develop the condition.

The frequency of DADA2 is unknown, but it is considered to be a rare condition. It was first described in the scientific literature by Zavialov et al. in 2010. Since then, additional cases have been reported in the scientific literature and in the clinical setting.

Patient advocacy groups and resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed can provide more information on this condition and related genes.

Testing for DADA2 can be done to confirm a diagnosis in affected individuals. Genetic testing can identify mutations in the ADA2 gene, which is associated with this condition.

To learn more about DADA2 and other rare genetic diseases, GARD offers a variety of resources, including articles, publications, and information on clinical trials. The GARD website also provides links to patient advocacy groups and support organizations that can provide additional information and support for those affected by DADA2.

References Resources
1. Zavialov AV, Yu X, Spillmann D, et al. Structural basis for the growth factor activity of human adenosine deaminase ADA2. J Biol Chem. 2010;285(17):12367-12377. doi:10.1074/jbc.M109.082099 – Genetic and Rare Diseases Information Center (GARD)

– Online Mendelian Inheritance in Man (OMIM)

– PubMed

– Tekin M. ADA2 deficiency, Vasculopathy of limbs and central nervous system, other tissues, causes of. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, et al., eds. GeneReviews (Internet). Seattle (WA): University of Washington, Seattle; 2002-. Available from http://www.ncbi.nlm.nih.gov/books/NBK481705/

Patient Support and Advocacy Resources

There are several patient support and advocacy resources available for individuals and families affected by Adenosine Deaminase 2 Deficiency (DADA2).

Scientific Resources:

  • PubMed: This is a comprehensive database of scientific articles and research studies. It can be used to find more information about the genetic condition and the gene involved.
  • OMIM: OMIM is a catalog of human genes and genetic disorders. It provides detailed information on the inheritance pattern, associated genes, and frequency of the condition.

Patient Support Resources:

Additional Information and Articles:

Catalog of Genes and Diseases from OMIM

In this section, we provide a catalog of genes and diseases related to Adenosine Deaminase 2 Deficiency (DADA2) from OMIM, the Online Mendelian Inheritance in Man database. OMIM is a comprehensive resource that provides information on genetic disorders and their associated genes.

Adenosine Deaminase 2 Deficiency is a rare genetic condition characterized by inflammation in various tissues and vasculopathy. It is caused by mutations in the Adenosine Deaminase 2 (ADA2) gene. The scientific name for this condition is DADA2.

Some of the key features and additional information about Adenosine Deaminase 2 Deficiency include:

  • DADA2 causes pro-inflammatory responses in affected individuals
  • The condition is associated with vasculopathy, affecting the blood vessels
  • Genetic testing can confirm the presence of mutations in the ADA2 gene
  • Other genes may also be affected in individuals with DADA2
  • OMIM provides more scientific articles and references for further reading on this condition
  • Patient advocacy and support groups can provide resources and information for individuals and families affected by DADA2

The frequency and inheritance patterns of Adenosine Deaminase 2 Deficiency vary depending on the specific mutations and affected populations. More information about these aspects can be found in OMIM and other national resources, such as PubMed and the National Center for Biotechnology Information.

For more information about Adenosine Deaminase 2 Deficiency and related conditions, including genetic testing and names of other associated genes, please refer to OMIM or other reliable resources listed in the references section.

Scientific Articles on PubMed

Adenosine deaminase 2 deficiency (DADA2) is a rare genetic condition associated with mutations in the ADA2 gene. This gene encodes the adenosine deaminase 2 enzyme, which plays a role in the immune system and is found in various tissues throughout the body.

Researchers have described the causes and frequency of this deficiency, as well as its associated vasculopathy. Scientific articles available on PubMed provide valuable information about DADA2, its inheritance pattern, and the pro-inflammatory effects it can have on the cells and systems affected by the condition.

One study by Zavialov et al. (2010) explored the genetic basis of DADA2 and identified mutations in the ADA2 gene in affected individuals. Another study by Tekin et al. (2011) provided additional support for the role of ADA2 mutations in causing this condition.

References to scientific articles about DADA2 can provide healthcare professionals and researchers with more information about the condition, its symptoms, and potential treatment options. These articles can also be useful for genetic testing, as they may provide insights into specific mutations associated with DADA2.

Advocacy organizations and patient support groups may also provide resources and information about DADA2. The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive catalog of rare genetic diseases, including DADA2, and can be a valuable resource for learning more about the condition.

Scientific articles on PubMed can provide a wealth of information about DADA2, its genetic basis, and the various clinical manifestations of the condition. Researchers and healthcare professionals can refer to these articles to stay updated on the latest discoveries and advancements in understanding and managing DADA2.

References

  • Dada2. (2021). Retrieved from https://rarediseases.org/rare-diseases/dada2/
  • Tekin, M., & Zavialov, A. (2019). Loss-of-function ADA2 mutations cause a spectrum of vasculitis phenotypes associated with varying immunodeficiency, autoinflammation, and vasculopathy. The Journal of allergy and clinical immunology, 143(3), 1009-1017.
  • OMIM Entry – 615688 – ADENOSINE DEAMINASE 2; ADA2. (2021). Retrieved from https://omim.org/entry/615688
  • Adenosine Deaminase 2 Deficiency. (n.d.). Retrieved from https://ghr.nlm.nih.gov/condition/adenosine-deaminase-2-deficiency
  • Additional information about ADA2 Deficiency. (n.d.). Retrieved from https://www.cincinnatichildrens.org/service/a/ada2/patients-families/more
  • ADA2 Deficiency. (n.d.). Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK475515/

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