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5 OMIM references -
5 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Congenital pulmonary alveolar proteinosis
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency

ABCA3 STAT1
CSF2RA
CSF2RB
SFTPB
SFTPC


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CSF2RB
(0.52)
STAT1



Citations in the biomedical literature:


Congenital pulmonary alveolar proteinosis
ABCA3 CSF2RA CSF2RB SFTPB SFTPC
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
STAT1



Congenital pulmonary alveolar proteinosis
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency

Synonym(s):
- Congenital PAP

Synonym(s):
- MSMD due to partial STAT1 deficiency
- MSMD due to partial signal transducer and activator of transcription 1 deficiency
- Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency

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

Classification (ICD10):
- Diseases of the respiratory system -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant

External references:
5 OMIM references -
No MeSH references
External references:
No OMIM references
No MeSH references

No signs/symptoms info available.