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Severe combined immunodeficiency due to adenosine deaminase deficiency
1 OMIM reference -
1 associated gene
8 connected diseases
No signs/symptoms info
Disease Type of connection
Omenn syndrome
Glucocorticoid resistance
Acute encephalopathy with biphasic seizures and late reduced diffusion
Autosomal recessive limb-girdle muscular dystrophy type 2F
Dyskeratosis congenita
Familial isolated dilated cardiomyopathy
Hoyeraal-Hreidarsson syndrome
Retinopathy - anemia- central nervous system anomalies
Synonym(s):
- ADA deficiency
- SCID due to adenosine deaminase deficiency
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare immune disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
1 MeSH reference: C531816
Gene symbol UniProt reference OMIM reference
ADA P00813608958
No signs/symptoms info available.