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Cystic fibrosis

1 OMIM reference -
5 associated genes
9 signs/symptoms

PROTEIN INTERACTIONS: 1

Acromegaloid facial appearance syndrome

1 OMIM reference -
1 associated gene
25 signs/symptoms

Cystic fibrosis

Acromegaloid facial appearance syndrome

CFTR	(UniProt - OMIM)		ABCC9	(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	(0.52)	ABCC9

Citations in the biomedical literature:

Cystic fibrosis		Acromegaloid facial appearance 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 genetic 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: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: D003550		External references: 1 OMIM reference - 1 MeSH reference: C535655

Cystic fibrosis		Acromegaloid facial appearance 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 - Autosomal dominant inheritance - Blepharophimosis / short palpebral fissures - Coarse face - Flared / thick ala nasi - Hamartoma / tumefaction of the tongue / gingivae / oral mucosa - Hyperextensible joints / articular hyperlaxity - Hypertelorism - Large hand - Long / large / bulbous nose - Macroglossia / tongue protrusion / proeminent / hypertrophic - Protruding lips - Puffy eyelids - Thick lips - Thickened / hypertrophic / fibromatous gingivae Frequent - Dense / thickened skull / calvarium / cranial / facial hyperostosis - High arched eyebrows - Intellectual deficit / mental / psychomotor retardation / learning disability - Metacarpal anomalies / Archibald's sign - Micrognathia / retrognathia / micrognathism / retrognathism - Sloping forehead - Synophris / synophrys - Thick skin / pachydermia / orange skin - Thick / bushy eyebrows Occasional - Seizures / epilepsy / absences / spasms / status epilepticus - Tapered fingers