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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
3 OMIM references -
4 associated genes
No signs/symptoms info
Pelizaeus-Merzbacher-like due to HSPD1 mutation
Idiopathic bronchiectasis

HSPD1 CFTR
SCNN1A
SCNN1B
SCNN1G


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
HSPD1
(0.72)
CFTR



Citations in the biomedical literature:


Pelizaeus-Merzbacher-like due to HSPD1 mutation
HSPD1
Idiopathic bronchiectasis
CFTR SCNN1A SCNN1B SCNN1G



Pelizaeus-Merzbacher-like due to HSPD1 mutation
Idiopathic bronchiectasis

Synonym(s):
- Mitochondrial HSP60 chaperonopathy

Synonym(s):
(no synonyms)

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

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Diseases of the respiratory system -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)

External references:
1 OMIM reference -
No MeSH references
External references:
3 OMIM references -
No MeSH references

No signs/symptoms info available.