ODCs

Cytoscape Web

Click node...

Cystic fibrosis

1 OMIM reference -
5 associated genes
9 signs/symptoms

PROTEIN INTERACTIONS: 1

Nance-Horan syndrome

1 OMIM reference -
1 associated gene
18 signs/symptoms

Cystic fibrosis

Nance-Horan syndrome

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


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CFTR	(0.56)	NHS

Citations in the biomedical literature:

Cystic fibrosis		Nance-Horan syndrome
	Synonym(s): - CF - Mucoviscidosis		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare gastroenterologic disease - Rare genetic disease - Rare infertility - Rare respiratory disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare odontologic disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	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: neonatal/infancy Average age of death: normal Type of inheritance: x-linked dominant

	External references: 1 OMIM reference - 1 MeSH reference: D003550		External references: 1 OMIM reference - 1 MeSH reference: C538336

Cystic fibrosis		Nance-Horan syndrome
	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)		Very frequent - Anomalies of teeth and dentition - Cataract / lens opacification - High nasal bridge - Long face - Long / large / bulbous nose - Microcornea - Nystagmus - Prognathism / prognathia - Visual loss / blindness / amblyopia Frequent - Intellectual deficit / mental / psychomotor retardation / learning disability - Metacarpal anomalies / Archibald's sign - Prominent / bat ears - Strabismus / squint - Supernumerary teeth / polyodontia Occasional - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Glaucoma - Psychic / behavioural troubles - Retinal detachment