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Cystic fibrosis

1 OMIM reference -
5 associated genes
9 signs/symptoms

PROTEIN INTERACTIONS: 1

Christianson syndrome

1 OMIM reference -
1 associated gene
37 signs/symptoms

Cystic fibrosis

Christianson syndrome

CFTR	(UniProt - OMIM)		SLC9A6	(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	(0.52)	SLC9A6

Citations in the biomedical literature:

Cystic fibrosis		Christianson syndrome
	Synonym(s): - CF - Mucoviscidosis		Synonym(s): - X-linked Angelman-like syndrome - X-linked intellectual deficit - craniofacial dysmorphism - epilepsy - ophthalmoplegia - cerebellar atrophy - X-linked intellectual deficit, South African type

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

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): (no data available)

	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: young adult Type of inheritance: x-linked dominant

	External references: 1 OMIM reference - 1 MeSH reference: D003550		External references: 1 OMIM reference - 1 MeSH reference: C537450

Cystic fibrosis		Christianson 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 - Ataxia / incoordination / trouble of the equilibrium - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Intellectual deficit / mental / psychomotor retardation / learning disability - Long face - Long / large ear - Long / large / bulbous nose - Midbrain / brainstem / pons / medulla anomalies - Narrow face - Seizures / epilepsy / absences / spasms / status epilepticus - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Strabismus / squint - Thick / bushy eyebrows - Wasted (excluding lipodystrophy) / poorly muscled build / cachexy - X-linked dominant inheritance Frequent - Abnormal gait - Anomalies of chest / thorax / trunk - Autism / autistic disoders - Clasp thumb / thumb adduction / distal thumb phalangeal bone deviated / large - Corpus callosum / septum pellucidum total / partial agenesis - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Dilated cerebral ventricles without hydrocephaly - Dystonia / torticollis / writer's cramp / blepharospasms - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Microcephaly - Movement disorder - Nystagmus - Ophthalmoplegia / ophthalmoparesis / oculomotor palsy - Pectus excavatum - Psychic / behavioural troubles Occasional - Anomalies of nose and olfaction - Arthrogryposis - Deepset eyes / enophthalmos - Early death / lethality - Hyperextensible joints / articular hyperlaxity - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Prognathism / prognathia