ODCs

Cytoscape Web

Click node...

Cystic fibrosis

1 OMIM reference -
5 associated genes
9 signs/symptoms

PROTEIN INTERACTIONS: 1

Kniest dysplasia

1 OMIM reference -
1 associated gene
38 signs/symptoms

Cystic fibrosis

Kniest dysplasia

CFTR	(UniProt - OMIM)		COL2A1	(UniProt - OMIM)
CLCA4	(UniProt)
DCTN4	(UniProt - OMIM)
STX1A	(UniProt - OMIM)
TGFB1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TGFB1	(0.85)	COL2A1

Citations in the biomedical literature:

Cystic fibrosis		Kniest dysplasia
	Synonym(s): - CF - Mucoviscidosis		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare gastroenterologic disease - Rare genetic disease - Rare infertility - Rare respiratory disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic 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: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: D003550		External references: 1 OMIM reference - 1 MeSH reference: C537207

Cystic fibrosis		Kniest dysplasia
	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 - Depressed nasal bridge - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Epiphyseal anomaly - Femur anomaly / absence / agenesis / hypoplasia / bifurcation - Joint / articular deformation - Kyphosis - Lordosis - Mesomelic micromelia - Metaphyseal anomaly - Mid-facial hypoplasia / short / small midface - Myopia - Osteoarthritis - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Platyspondyly - Restricted joint mobility / joint stiffness / ankylosis - Retinopathy - Rhizomelic micromelia - Scoliosis - Short rib cage / thorax - Short stature / dwarfism / nanism - Vitreous anomalies / hyalitis / persistent vitreous vascularisation - Wide rib cage / thorax Frequent - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Hearing loss / hypoacusia / deafness - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Proptosis / exophthalmos - Retinal detachment - Round face Occasional - Cataract / lens opacification - Glaucoma - Glossoptosis - Lens dislocation / luxation / subluxation / ectopia lentis - Micrognathia / retrognathia / micrognathism / retrognathism - Ptosis - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Tracheal atresia / stenosis - Tracheomalacia / tracheobronchomalacia