2',5'-oligoadenylate synthetase 1 deficiency

Synonym(s)
- Infantile-onset pulmonary alveolar proteinosis with hypogammaglobulinemia
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- OAS1 / OAS1
  12q24.13
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- 2'-5'-oligoadenylate synthetase 1
Disease group(s)
- 16.3 Disorders of ectonucleotide and nucleic acid metabolism