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5 OMIM references -
5 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
3 OMIM references -
3 associated genes
No signs/symptoms info
Congenital pulmonary alveolar proteinosis
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

ABCA3 HNRNPA1
CSF2RA HNRNPA2B1
CSF2RB VCP
SFTPB
SFTPC


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SFTPC
(0.63)
VCP



Citations in the biomedical literature:


Congenital pulmonary alveolar proteinosis
ABCA3 CSF2RA CSF2RB SFTPB SFTPC
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
HNRNPA1 HNRNPA2B1 VCP



Congenital pulmonary alveolar proteinosis
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

Synonym(s):
- Congenital PAP

Synonym(s):
- IBMPFD
- Limb-girdle muscular dystrophy with Paget disease of bone
- Pagetoid amyotrophic lateral sclerosis
- Pagetoid neuroskeletal syndrome

Classification (Orphanet):
- Rare genetic disease
- Rare respiratory disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease

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

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: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant

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

No signs/symptoms info available.