Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia
Synonyms: OAS1 deficiency · OAS1-related infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy
- Status
- active
A rare genetic respiratory disease characterized by infantile onset of pulmonary alveolar proteinosis with hypogammaglobulinemia. Patients have normal respiratory function at birth, but subsequently develop recurrent, mainly viral, infections and progressive respiratory failure, often leading to death in infancy or early childhood. Additional reported features include leukocytosis and splenomegaly.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia | OAS1 deficiency · OAS1-related infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia |
| fr | Protéinose alvéolaire pulmonaire à début infantile-hypogammaglobulinémie | Déficit en OAS1 · Protéinose alvéolaire pulmonaire à début infantile-hypogammaglobulinémie associée à OAS1 |
| de | Pulmonale Alveolarproteinose-Hypogammaglobulinämie, infantile Form | OAS1-Defizienz · OAS1-assoziierte Pulmonale Alveolarproteinose-Hypogammaglobulinämie mit Beginn im Kleinkindalter |
| es | Proteinosis alveolar pulmonar-hipogammaglobulinemia de inicio en el lactante | Deficiencia de OAS1 · Proteinosis alveolar pulmonar-hipogammaglobulinemia en el lactante asociada a OAS1 |
| it | Proteinosi alveolare polmonare ad esordio infantile-ipogammaglobulinemia | Deficit di OAS1 · Proteinosi alveolare polmonare ad esordio infantile con ipogammaglobulinemia correlata a OAS1 |
| nl | Pulmonale alveolaire proteïnose met infantiele aanvang - hypogammaglobulinemie | OAS1-deficiëntie · OAS1-gerelateerde pulmonale alveolaire proteïnose met infantiele aanvang - hypogammaglobulinemie |
| pt | Proteinose alveolar pulmonar de início na infância-hipogamaglobulinémia | |
| pl | Proteinoza pęcherzyków płucnych i hipogammaglobulinemia o początklu w niemowlęctwie | Proteinoza pęcherzyków płucnych i hipogammaglobulinemia o początklu w niemowlęctwie związana z OAS1 |
| cs | Plicní alveolární proteinóza a hypogamaglobulinémie s nástupem v dětském věku | = en |
| uk | Інфантильний легеневий альвеолярний протеїноз - гіпогаммаглобулінемія, що починається в дитинстві | Дефіцит OAS1 · Повязаний з OAS1 інфантильний легеневий альвеолярний протеїноз-гіпогаммаглобулінемія |
| zh | 婴儿肺泡蛋白沉积-低丙球蛋白血症 | OAS1基因缺陷 |
| tr | İnfantil-başlangıçlı pulmoner alveolar proteinozis-hipogamaglobulinemi | OAS1-ilişkili infantil başlangıçlı pulmoner alveolar proteinozis-hipogamaglobulinemi · OAS1 eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618042 | E | validated | |
| ICD-10 | J84.0 | NTBT | attributed | validated |
| ICD-11 | CB04.31 | NTBT | attributed | validated |
| MONDO | 0035529 | E | validated | |
| UMLS | C5680364 | 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 (2):
- ORPHA:290839Autoinflammatory syndrome with immune deficiency
rare genetic diseases; rare immunological diseases - ORPHA:100049Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies
rare genetic diseases; rare respiratory diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| OAS1 | Disease-causing germline mutation(s) in | Assessed | HGNC:8086 | ENSG00000089127 | 164350 | 12q24.13 | 2'-5'-oligoadenylate synthetase 1 | 29455859[PMID]_31953170[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 29455859[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_29455859[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/572428
- This record as JSON: /data/d/572428.json