DADA2 Foundation
Cycle 1
DADA2—deficiency of the enzyme ADA2 (Adenosine Deaminase 2)—is a recently discovered and extremely rare genetic disease that usually starts in childhood. It can cause recurrent strokes, severe systemic inflammation, immune deficiency, and damage to many of the body's tissues and organs.
Last updated 04/30/2025
Clinical
Disease Class
Cardiac diseases
Genetic diseases
Hematological diseases
Hepatic diseases
Immunological diseases
Renal diseases
Skin diseases
Systemic and rheumatological diseases
Systemic and rheumatological diseases of childhood
Vascular disease
Body Systems
Cardiovascular / Circulatory
Digestive
Hematopoietic / Lymphatic / Immune
Integumentary / Exocrine
Metabolic
Muscular / Skeletal
Nervous / Sensory
Renal / Urinary / Excretory
Organs
Arteries
Blood
Blood vessels (veins, arteries)
Bone marrow
Bones
Brain
Ears
Esophagus
Eyes
Heart
Intestines
Kidneys
Liver
Lungs
Lymph fluid, nodes, ducts, vessels
Mouth / teeth
Pancreas
Skin
Spleen
Stomach
Veins
Known Genetic Link
Yes, one or more genes directly cause the condition
causative_genes
ADA2 (CECR1)
contributory_genes
None specified / unknown
Type of Inheritance
Autosomal recessive
Newborn Screening
No
Disease Mechanism(s)
Autoimmune
Autoinflammatory disorder
Enzyme deficiency
Immune deficiencies
Age of Onset
Adolescence (12-17)
Adulthood (age 18-64)
Early childhood (age 1+-5)
Elderly (age 65+)
Infancy (age 0-1)
Middle childhood (6-11)
Average Age at Diagnosis
Middle childhood (6-11)
Life Expectancy
Adolescence (12-17)
Adulthood (age 18-64)
Middle childhood (6-11)
Affected Sex(es)
Female
Male
National Prevalence
1001-10000
Global Prevalence
10000+
National Incidence
Less than 10
Global Incidence
Less than 10
Populations and/or ancestry with higher prevalence
DADA2 has been observed in nearly all regions, ethnic, and racial groups. Incidence and prevalence is higher in populations with higher rates of consanguinity.
Symptoms / Phenotypes
abnormal systemic arterial morphology
anemia
aneurysm
blood disorders
bone marrow failure / bone marrow hypocellularity
bone marrow failure / bone marrow hypocellularity
cancer, lymphoma
cardiac abnormalities
colitis
conjunctivitis
cranial nerve palsy
diarrhea
digital ulcerations
failure to thrive
fatigue
fever
gait abnormalities / gait disturbance
gastrointestinal disorders
headaches / migraines
hearing loss / hearing impairment
hemorrhage/bleeding
hypertension
immune deficiency / immunodeficiency
infection, unspecified location
inflammation
joint pain / arthralgia
kidney disease / nephropathy
malaise
miscarriage
muscle weakness
myalgia / muscle pain
myelofibrosis
myositis
neuroinflammation
neutropenia
oral sore / ulcer
pain, abdominal
peripheral neuropathy
pulmonary hemorrhage
Raynaud's phenomenon
seizures / epilepsy
skin necrosis
skin redness and/or swelling
stroke
subcutaneous nodules
testicular infarction
thrombocytopenia
transaminitis / elevated hepatic transaminase
unusual skin infection
vasculitis
vertigo
vision problems
weight loss
Biomarkers
Diagnostic
· ADA2 blood enzyme levels, ADA2 gene mutations
Existing Therapies
Off-Label Drug Use
Organizational & Research
Cell Lines
None
Cell Lines, share
N/A
Disease Model
None
Disease Model, share
N/A
Clinical Trial Role
Not involved
Biobank, Institution
None
Center of Excellence, Institution
None
Registry
No, we do not have a registry, but we plan to create one
Natural History Study
No, we do not have a natural history study, but we plan to create or collaborate on one
FDA Patient Listening Session
No
FDA Patient-Focused Drug Development (PFDD) Program
No
ICD Codes
Yes, we have an ICD-10 code specific to our exact disease
Yes, we have an ICD-11 code specific to our exact disease
Diagnostic Guidelines
Yes, we have published formal guidelines in a peer-reviewed journal
Science Advisory Board Policies
No policies
Research Network Policies
Has CRN but no policies
Research Roadmap
We don't have a Research Roadmap
International Chapters
None
International Partners
None