Deficiency of adenosine deaminase 2
Synonyms: Adenosine deaminase 2 deficiency · DADA2 · Vasculitis-autoinflammation-immunodeficiency- hematologic defects syndrome · ADA2 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
A rare autoinflammatory disease characterized by a broad clinical phenotype of systemic inflammation, vasculitis, early-onset stroke, immunodeficiency and bone marrow failure. The disease typically presents in young children, although adult cases are being discovered.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Deficiency of adenosine deaminase 2 | Adenosine deaminase 2 deficiency · DADA2 · Vasculitis-autoinflammation-immunodeficiency- hematologic defects syndrome · ADA2 deficiency |
| fr | Déficit en adénosine désaminase 2 | DADA2 · Déficit en ADA2 · Syndrome de vascularite-auto-inflammation-immunodéficience-anomalies hématologiques |
| de | Adenosin-Desaminase 2-Mangel | ADA2-Mangel · Adenosin-Desaminase 2-Defizienz · DADA2 · Vaskulitis-Autoinflammation-Immundefekt-hämatologische Defekte-Syndrom |
| es | Deficiencia de adenosina desaminasa 2 | DADA2 · Deficiencia de ADA2 · Síndrome de vasculitis-autoinflamación-inmunodeficiencia-defectos hematológicos |
| it | Deficit di adenosina deaminasi 2 | Deficit di ADA2 · Deficit di adenosina deaminasi 2 · Sindrome vasculite-autoinfiammazione-immunodeficienza-difetti ematologici · DADA2 · Vasculite da deficit di ADA2 |
| nl | Deficiëntie van adenosinedeaminase 2 | ADA2-deficiëntie · Adenosinedeaminase 2-deficiëntie · DADA2 · Vasculitis - auto-inflammatie - immuundeficiëntie - hematologische defecten-syndroom |
| pt | Deficiência de adenosina deaminase 2 | DADA2 · Vasculite devido a DADA2 · Vasculite devido a deficiência de ADA2 |
| pl | Zapalenie naczyń z powodu niedoboru ADA2 | Niedobór deaminazy adenozyny 2 |
| cs | Vaskulitida způsobená deficitem ADA2 | = en |
| uk | Дефіцит аденозиндезамінази 2 | DADA2 · Дефіцит аденозиндезамінази 2 · Васкуліт, спричинений дефіцитом ADA2 · Васкуліт через DADA2 |
| zh | ADA2缺乏导致的血管炎 | DADA2相关血管炎 |
| tr | ADA2 eksikliğine bağlı vaskülit | DADA2'ye bağlı vaskülit |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615688 | E | validated | |
| ICD-10 | M30.8 | NTBT | attributed | validated |
| ICD-11 | 4A60.Y | NTBT | attributed | validated |
| MONDO | 0014306 | E | validated | |
| UMLS | C4749403 | E | validated | |
| GARD | 12383 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (6):
- ORPHA:156143Predominantly medium-vessel vasculitis
rare systemic and rheumatological diseases; rare circulatory system diseases - ORPHA:233655Rare genetic vascular disease
rare genetic diseases - ORPHA:280369Rare pediatric vasculitis
rare systemic or rheumatologic diseases of childhood - ORPHA:717871Rare systemic or rheumatologic disease with inflammatory bowel disease
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:477647Type 1 interferonopathy
rare genetic diseases; rare systemic and rheumatological diseases - ORPHA:481671Type 1 interferonopathy of childhood
rare systemic or rheumatologic diseases of childhood
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ADA2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:1839 | ENSG00000093072 | 607575 | 22q11.1 | adenosine deaminase 2 | 24552284[PMID]_24552285[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28516235[PMID] |
| Cases/families | 48 cases | Worldwide | Case(s) | Validated | 28516235[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/404553
- This record as JSON: /data/d/404553.json