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1 OMIM reference -
5 associated genes
9 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Cystic fibrosis
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation

CFTR LMNA
CLCA4
DCTN4
STX1A
TGFB1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CFTR
(0.63)
LMNA



Citations in the biomedical literature:


Cystic fibrosis
CFTR CLCA4 DCTN4 STX1A TGFB1
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
LMNA



Cystic fibrosis
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation

Synonym(s):
- CF
- Mucoviscidosis

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare gastroenterologic disease
- Rare genetic disease
- Rare infertility
- Rare respiratory disease
Classification (Orphanet):
- Rare cardiac disease
- Rare genetic disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: neonatal/infancy
Average age of death: young adult
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
1 MeSH reference: D003550
External references:
1 OMIM reference -
No MeSH references

Cystic fibrosis

Very frequent
- Agammaglobulinemia / hypogammaglobulinemia / B-cell deficiency
- Autosomal recessive inheritance
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Lung fibrosis
- Malabsorption / chronic diarrhea / steatorrhea
- Repeat respiratory infections
- Structural anomalies of the liver and the biliary tract
- Structural anomalies of the pancreas

Occasional
- Hepatomegaly / liver enlargement (excluding storage disease)


Familial dilated cardiomyopathy with conduction defect due to LMNA mutation

(no data available)