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Disease Profile
Adenosine Deaminase 2 deficiency
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
Age of onset
Childhood
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
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
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 | ||
|
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 |
0004313 | |
| Dilated |
Stretched and thinned heart muscle
|
0001644 |
| Eczema | 0000964 | |
| Elevated C-reactive |
0011227 | |
| Elevated |
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 |
|
Enlarged liver and spleen
|
0001433 | |
| 0000822 | ||
|
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 |
| 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 |
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 | |
|
Joint inflammation
|
0001369 | |
| 0001251 | ||
| 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
-
FMF & AID Global Association
Schüracherstrasse 25a
8306 Brüttisellen
Switzerland
Telephone: +41 76 415 4010
E-mail: info@fmfandaid.org
Website: https://www.fmfandaid.org/ -
Vasculitis Foundation
P.O. Box 28660
Kansas City, MO 64188
Toll-free: 1-800-277-9474
Telephone: +1-816-436-8211
Fax: +1-816-656-3838
E-mail: https://www.vasculitisfoundation.org/contact-us-2/
Website: https://www.vasculitisfoundation.org/
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
- Polyarteritis Nodosa, Childhood-Onset; PAN. Online Mendelian Inheritance in Man (OMIM). August 6, 2014; https://www.omim.org/entry/615688. Accessed 2/19/2016.
- 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.
- 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.
- 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.