Rare Hematology News

Disease Profile

Adenosine Deaminase 2 deficiency

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Childhood

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ICD-10

M30.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Vasculitis due to DADA2; Vasculitis due to ADA2 deficiency; Polyarteritis nodosa, childhood-onset;

Categories

Blood Diseases; Congenital and Genetic Diseases; Immune System Diseases;

Summary

Adenosine Deaminase 2 deficiency is an inherited disorder causing inflammation in the body, especially in the tissues that make up the blood vessels (vasculitis). [1][2] Though the severity and age of onset can vary, most patients begin having symptoms within the first decade of life. Symptoms may include the following: recurrent strokes, fevers, muscle pain, an enlarged liver or spleen, and areas of skin discoloration known as livedo racemosa or livedo reticularis. [1] The strokes can affect physical or cognitive functioning. [3] Other symptoms may include high blood pressure, aneurysms, immune system abnormalities, and necrosis of the fingers/toes. [1] ADA2 deficiency is thought to be caused by mutations in the CECR1 gene and inherited in an autosomal recessive manner. [1][3] Mutations in the CECR1 gene have also been associated with a familial form of Sneddon syndrome. Individuals with this form of Sneddon syndrome have been reported to have similar findings as those with ADA2 deficiency but with a later onset.[4]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
5%-29% of people have these symptoms
Anemia
Low number of red blood cells or hemoglobin
0001903
1%-4% of people have these symptoms
Aphasia
Difficulty finding words
Losing words
Loss of words

[ more ]

0002381
Aphthous ulcer
Canker sore
0032154
Arthralgia
Joint pain
0002829
Bone marrow hypocellularity
Bone marrow failure
0005528
Childhood onset
Symptoms begin in childhood
0011463
Cutis marmorata
0000965
Decreased circulating antibody level
0004313
Dilated cardiomyopathy
Stretched and thinned heart muscle
0001644
Eczema
0000964
Elevated C-reactive protein level
0011227
Elevated erythrocyte sedimentation rate
High ESR
0003565
Elevated hepatic transaminase
High liver enzymes
0002910
Erythema nodosum
0012219
Esophageal varix
Enlarged vein in esophagus
0002040
Feeding difficulties
Feeding problems
Poor feeding

[ more ]

0011968
Hashimoto thyroiditis
0000872
Hepatomegaly
Enlarged liver
0002240
Hepatosplenomegaly
Enlarged liver and spleen
0001433
Hypertension
0000822
Immunodeficiency
Decreased immune function
0002721
Infantile onset
Onset in first year of life
Onset in infancy

[ more ]

0003593
Juvenile onset
Signs and symptoms begin before 15 years of age
0003621
Leukocytosis
Elevated white blood count
High white blood count
Increased blood leukocyte number

[ more ]

0001974
Lupus anticoagulant
0025343
Lymphadenopathy
Swollen lymph nodes
0002716
Lymphopenia
Decreased blood lymphocyte number
Low lymphocyte number

[ more ]

0001888
Lymphoproliferative disorder
0005523
Myalgia
Muscle ache
Muscle pain

[ more ]

0003326
Neonatal onset
0003623
Optic atrophy
0000648
Oral ulcer
Mouth ulcer
0000155
Pancytopenia
Low blood cell count
0001876
Peripheral neuropathy
0009830
Portal hypertension
0001409
Purpura
Red or purple spots on the skin
0000979
Raynaud phenomenon
0030880
Recurrent fever
Episodic fever
Increased body temperature, episodic
Intermittent fever

[ more ]

0001954
Recurrent otitis media
Recurrent middle ear infection
0000403
Recurrent sinusitis
0011108
Skin rash
0000988
Skin ulcer
Open skin sore
0200042
Splenomegaly
Increased spleen size
0001744
Stiff skin
0030053
Stroke
0001297
Thrombocytosis
Increased number of platelets in blood
0001894
Type I diabetes mellitus
Type 1 diabetes
Type I diabetes

[ more ]

0100651
Urticarial plaque
0030351
Vasculitis
Inflammation of blood vessel
0002633
Percent of people who have these symptoms is not available through HPO
Abdominal pain
Pain in stomach
Stomach pain

[ more ]

0002027
Agitation
0000713
Arthritis
Joint inflammation
0001369
Ataxia
0001251
Autosomal recessive inheritance
0000007
Headache
Headaches
0002315
Hemiplegia
Paralysis on one side of body
0002301
Ophthalmoplegia
Eye muscle paralysis
0000602
Panniculitis
Inflammation of fat tissue
0012490

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Learn more

    These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

    Where to Start

    • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.

      In-Depth Information

      • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
      • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

        References

        1. Polyarteritis Nodosa, Childhood-Onset; PAN. Online Mendelian Inheritance in Man (OMIM). August 6, 2014; https://www.omim.org/entry/615688. Accessed 2/19/2016.
        2. Deficiency of Adenosine Deaminase 2 (DADA2). Cedars-Sinai. https://www.cedars-sinai.edu/Patients/Health-Conditions/Deficiency-of-Adenosine-Deaminase-2-DADA2-.aspx. Accessed 2/19/2016.
        3. Zhou, Q, et al.. Early-onset stroke and vasculopathy associated with mutations in ADA2. New England Journal of Medicine. Mar 6, 2014; 370(10):911-20. https://www.ncbi.nlm.nih.gov/pubmed/?term=24552284. Accessed 2/19/2016.
        4. Bras, Jose and Guerreiro, Rita, and Santo, Gustavo. Mutant ADA2 in vasculopathies. New England Journal of Medicine. 371:478-80. https://www.ncbi.nlm.nih.gov/pubmed/?term=25075844. Accessed 2/19/2016.