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Cystic fibrosis

1 OMIM reference -
5 associated genes
9 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Sea-blue histiocytosis

1 OMIM reference -
1 associated gene
12 signs/symptoms

Cystic fibrosis

Sea-blue histiocytosis

CFTR	(UniProt - OMIM)		APOE	(UniProt - OMIM)
CLCA4	(UniProt)
DCTN4	(UniProt - OMIM)
STX1A	(UniProt - OMIM)
TGFB1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	STX1A	(0.63)	APOE

Citations in the biomedical literature:

Cystic fibrosis		Sea-blue histiocytosis
	Synonym(s): - CF - Mucoviscidosis		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare gastroenterologic disease - Rare genetic disease - Rare infertility - Rare respiratory disease		Classification (Orphanet): - Rare genetic disease - Rare systemic or rheumatologic disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

	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: (no data available)

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


COMMON SIGNS	- Hepatomegaly / liver enlargement (excluding storage disease)

Cystic fibrosis		Sea-blue histiocytosis
	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		Very frequent - Blepharitis / eyelid inflammation - Cutaneous edema - Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding - Mediastinal / hilar adenopathies - Purpura / petichiae - Splenomegaly - Subcutaneous nodules / lipomas / tumefaction / swelling - Thrombocytopenia / thrombopenia Frequent - Lung / pulmonary infiltrates Occasional - Irregular / in bands / reticular skin hyperpigmentation - Retinopathy