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Cystic fibrosis

1 OMIM reference -
5 associated genes
9 signs/symptoms

PROTEIN INTERACTIONS: 1

X-linked Charcot-Marie-Tooth disease type 4

1 OMIM reference -
1 associated gene
21 signs/symptoms

Cystic fibrosis

X-linked Charcot-Marie-Tooth disease type 4

CFTR	(UniProt - OMIM)		AIFM1	(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	(0.72)	AIFM1

Citations in the biomedical literature:

Cystic fibrosis		X-linked Charcot-Marie-Tooth disease type 4
	Synonym(s): - CF - Mucoviscidosis		Synonym(s): - CMT4X - CMTX4 - Cowchock syndrome

	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 - Rare otorhinolaryngologic disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Diseases of the nervous system -

	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: childhood Average age of death: - Type of inheritance: x-linked recessive

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

Cystic fibrosis		X-linked Charcot-Marie-Tooth disease type 4
	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 - Areflexia / hyporeflexia - Flat palm - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Muscle weakness / flaccidity - Nerve conduction abnormality - Peripheral neuropathy - Pes cavus - Sensitive trouble / deficit - X-linked recessive inheritance Frequent - Hearing loss / hypoacusia / deafness - Insensitivity to pain - Intellectual deficit / mental / psychomotor retardation / learning disability - Kyphosis - Motor deficit / trouble - Scoliosis Occasional - Abnormal gait - Ataxia / incoordination / trouble of the equilibrium - Elocution disorders / dysarthria / dysphonia - Somnolence / hypersomnia / parasomnia - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Tremor