ODCs

Cytoscape Web

Click node...

Cystic fibrosis

1 OMIM reference -
5 associated genes
9 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

CEDNIK syndrome

1 OMIM reference -
1 associated gene
34 signs/symptoms

Cystic fibrosis

CEDNIK syndrome

CFTR	(UniProt - OMIM)		SNAP29	(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	(0.95)	SNAP29

Citations in the biomedical literature:

Cystic fibrosis		CEDNIK syndrome
	Synonym(s): - CF - Mucoviscidosis		Synonym(s): - Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome

	Classification (Orphanet): - Rare gastroenterologic disease - Rare genetic disease - Rare infertility - Rare respiratory disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic disease - Rare skin 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: any age Type of inheritance: autosomal recessive

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


COMMON SIGNS	- Autosomal recessive inheritance

Cystic fibrosis		CEDNIK syndrome
	Very frequent - Agammaglobulinemia / hypogammaglobulinemia / B-cell deficiency - 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 - Absent / hypotonic / flaccid abdominal wall muscles - Ataxia / incoordination / trouble of the equilibrium - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - High nasal bridge - Hypertelorism - Ichthyosis / ichthyosiform dermatitis - Intellectual deficit / mental / psychomotor retardation / learning disability - Long face - Microcephaly - Palmoplantar hyperkeratosis / keratoderma Frequent - Abnormal eye movements / oculomotor disorder - Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect - Areflexia / hyporeflexia - Corpus callosum / septum pellucidum total / partial agenesis - Nerve conduction abnormality - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Peripheral neuropathy Occasional - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Anomalies of eyes and vision - Cardiomyopathy / hypertrophic / dilated - Dolichocephaly / scaphocephaly - Flattened nose - Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia - Heart / cardiac failure - Late puberty / hypogonadism / hypogenitalism - Long / large ear - Nephrotic syndrome - Pericardium anomalies / pericarditis / absence / cysts / pericardial effusion - Proteinuria - Seizures / epilepsy / absences / spasms / status epilepticus - Sensorineural deafness / hearing loss - Short stature / dwarfism / nanism - Transient cerebral ischemia / stroke