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Chronic respiratory distress with surfactant metabolism deficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
3 OMIM references -
3 associated genes
No signs/symptoms info
Chronic respiratory distress with surfactant metabolism deficiency
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

SFTPC
(UniProt - OMIM)
 HNRNPA1
(UniProt - OMIM)
HNRNPA2B1
(UniProt - OMIM)
VCP
(UniProt - OMIM)

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


Citations in the biomedical literature:


Chronic respiratory distress with surfactant metabolism deficiency
SFTPC
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
HNRNPA1 HNRNPA2B1 VCP



Chronic respiratory distress with surfactant metabolism deficiency
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

Synonym(s):
(no synonyms)

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):
(no data available)
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: -
Average age onset: variable
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:
1 OMIM reference -
No MeSH references
External references:
3 OMIM references -
No MeSH references
No signs/symptoms info available.