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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
5 associated genes
9 signs/symptoms
CLN11 disease
Cystic fibrosis

GRN CFTR
CLCA4
DCTN4
STX1A
TGFB1


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


CLN11 disease
GRN
Cystic fibrosis
CFTR CLCA4 DCTN4 STX1A TGFB1



CLN11 disease
Cystic fibrosis

Synonym(s):
(no synonyms)

Synonym(s):
- CF
- Mucoviscidosis

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare gastroenterologic disease
- Rare genetic disease
- Rare infertility
- Rare respiratory disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal recessive
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

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

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)


CLN11 disease

(no data available)