ODCs

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1 OMIM reference -
5 associated genes
9 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

1 OMIM reference -
1 associated gene
15 signs/symptoms

Cystic fibrosis

Familial partial lipodystrophy, KÃ¶bberling type


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CFTR	(0.63)	LMNA

Citations in the biomedical literature:

Cystic fibrosis		Familial partial lipodystrophy, KÃ¶bberling type
	Synonym(s): - CF - Mucoviscidosis		Synonym(s): - FPLD1 - Familial partial lipodystrophy type 1

	Classification (Orphanet): - Rare gastroenterologic disease - Rare genetic disease - Rare infertility - Rare respiratory disease		Classification (Orphanet): - Rare endocrine disease - Rare genetic disease - Rare skin disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	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: adolescence / young Average age of death: - Type of inheritance: autosomal dominant

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


COMMON SIGNS	- Hepatomegaly / liver enlargement (excluding storage disease)

Cystic fibrosis		Familial partial lipodystrophy, KÃ¶bberling type
	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		Very frequent - Abnormal fat distribution / lipodystrophy - Autosomal dominant inheritance - Chronic arterial hypertension - Diabetes mellitus - Hyperinsulinism / hyperinsulinemia - Insulin resistance - Insulin-dependent / type 1 diabetes - Lipoatrophy Frequent - Abnormal / polycystic ovaries - Acanthosis nigricans - Liver / hepatic steatosis - Xanthomas / lipomas Occasional - Angor pectoris / myocardial infarction - Pancreatitis