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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/618042
http://purl.bioontology.org/ontology/OMIM/618042
|
|---|---|
| Preferred Name | IMMUNODEFICIENCY 100 WITH PULMONARY ALVEOLAR PROTEINOSIS AND HYPOGAMMAGLOBULINEMIA |
| Synonyms |
PULMONARY ALVEOLAR PROTEINOSIS WITH HYPOGAMMAGLOBULINEMIA
IMD100
PAPHG
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
PULMONARY ALVEOLAR PROTEINOSIS WITH HYPOGAMMAGLOBULINEMIA
IMD100
PAPHG
|
|---|---|
| prefLabel | IMMUNODEFICIENCY 100 WITH PULMONARY ALVEOLAR PROTEINOSIS AND HYPOGAMMAGLOBULINEMIA
|
| Gene Symbol |
OIAS
OAS1
IMD100
|
| Scope Statement | Hematopoietic stem cell transplantation may be curative [MISCELLANEOUS]
Caused by mutation in the 2-prime, 5-prime-@oligoadenylate synthetase gene (OAS1, 164350.0003) [MOLECULAR BASIS]
Death may occur in childhood due to respiratory failure [MISCELLANEOUS]
De novo mutation [MISCELLANEOUS]
Onset in first days or months of life [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 12q24.2
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 618042
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4747984
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |