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Congenital pulmonary alveolar proteinosis
5 OMIM references -
5 associated genes
60 connected diseases
No signs/symptoms info
Disease Type of connection
Infant acute respiratory distress syndrome
Neonatal acute respiratory distress with surfactant metabolism deficiency
Chronic respiratory distress with surfactant metabolism deficiency
Desquamative interstitial pneumonia
Idiopathic pulmonary fibrosis
Autosomal agammaglobulinemia
SHORT syndrome
Acute myeloblastic leukemia with maturation
Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Aleukemic mast cell leukemia
Bullous diffuse cutaneous mastocytosis
Classic mast cell leukemia
Cutaneous mastocytoma
Gastrointestinal stromal tumor
Isolated bone marrow mastocytosis
Lymphoadenopathic mastocytosis with eosinophilia
Nodular urticaria pigmentosa
Plaque-form urticaria pigmentosa
Pseudoxanthomatous diffuse cutaneous mastocytosis
Smouldering systemic mastocytosis
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
Telangiectasia macularis eruptiva perstans
Typical urticaria pigmentosa
Budd-Chiari syndrome
Essential thrombocythemia
Familial thrombocytosis
Myelofibrosis with myeloid metaplasia
Polycythemia vera
Juvenile myelomonocytic leukemia
LEOPARD syndrome
Noonan syndrome
Adult-onset distal myopathy due to VCP mutation
Amyotrophic lateral sclerosis
Behavioral variant of frontotemporal dementia
Cowden syndrome
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Joubert syndrome
Joubert syndrome with hepatic defect
Meckel syndrome
Progressive non-fluent aphasia
Proteus syndrome
Semantic dementia
Senior-Boichis syndrome
Spastic paraplegia - Paget disease of bone
Severe combined immunodeficiency due to LCK deficiency
Hamel cerebro-palato-cardiac syndrome
X-linked intellectual deficit, Golabi-Ito-Hall type
X-linked intellectual deficit, Porteous type
X-linked intellectual deficit, Sutherland-Haan type
Primary familial polycythemia
Autosomal dominant hyper-IgE syndrome
Chronic mucocutaneous candidiasis
Familial capillary hemangioma
Familial isolated congenital asplenia
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Susceptibility to viral and mycobacterial infections
- Congenital PAP

Classification (Orphanet):
- Rare genetic disease
- Rare respiratory disease

Classification (ICD10):
- Diseases of the respiratory system -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
5 OMIM references -
No MeSH references

No signs/symptoms info available.