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Senior-Boichis syndrome
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Congenital pulmonary alveolar proteinosis
5 OMIM references -
5 associated genes
No signs/symptoms info
Senior-Boichis syndrome
Congenital pulmonary alveolar proteinosis

TMEM67
(UniProt - OMIM)
 ABCA3
(UniProt - OMIM)
CSF2RA
(UniProt - OMIM)
CSF2RB
(UniProt - OMIM)
SFTPB
(UniProt - OMIM)
SFTPC
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
TMEM67
(0.63)
SFTPC


Citations in the biomedical literature:


Senior-Boichis syndrome
TMEM67
Congenital pulmonary alveolar proteinosis
ABCA3 CSF2RA CSF2RB SFTPB SFTPC



Senior-Boichis syndrome
Congenital pulmonary alveolar proteinosis

Synonym(s):
- Boichis disease
- Nephronophthisis - hepatic fibrosis - tapetoretinal degeneration - intellectual deficit
Synonym(s):
- Congenital PAP
Classification (Orphanet):
- Rare genetic disease
- Rare renal disease
Classification (Orphanet):
- Rare genetic disease
- Rare respiratory disease
Classification (ICD10):
(no data available)
Classification (ICD10):
- Diseases of the respiratory system -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
External references:
5 OMIM references -
No MeSH references
No signs/symptoms info available.