ODCs

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1 OMIM reference -
5 associated genes
9 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
No signs/symptoms info

Cystic fibrosis

Severe X-linked mitochondrial encephalomyopathy


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CFTR	(0.72)	AIFM1

Citations in the biomedical literature:

Cystic fibrosis		Severe X-linked mitochondrial encephalomyopathy
	Synonym(s): - CF - Mucoviscidosis		Synonym(s): - Mitochondrial encephalomyopathy due to COXPD6 - Mitochondrial encephalomyopathy due to combined oxidative phosphorylation deficiency 6

	Classification (Orphanet): - Rare gastroenterologic disease - Rare genetic disease - Rare infertility - Rare respiratory disease		Classification (Orphanet): - Inborn errors of metabolism - 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: - 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
	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)
Severe X-linked mitochondrial encephalomyopathy
(no data available)