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Chronic respiratory distress with surfactant metabolism deficiency
1 OMIM reference -
1 associated gene
19 connected diseases
No signs/symptoms info
Disease Type of connection
Congenital pulmonary alveolar proteinosis
Desquamative interstitial pneumonia
Idiopathic pulmonary fibrosis
Infant acute respiratory distress syndrome
Adult-onset distal myopathy due to VCP mutation
Amyotrophic lateral sclerosis
Behavioral variant of frontotemporal dementia
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Joubert syndrome
Joubert syndrome with hepatic defect
Meckel syndrome
Progressive non-fluent aphasia
Semantic dementia
Senior-Boichis syndrome
Spastic paraplegia - Paget disease of bone
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
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare genetic disease
- Rare respiratory disease
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: -
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
SFTPC P11686178620
No signs/symptoms info available.