ODCs

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Cystic fibrosis

1 OMIM reference -
5 associated genes
9 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Mandibuloacral dysplasia with type A lipodystrophy

1 OMIM reference -
1 associated gene
28 signs/symptoms

Cystic fibrosis

Mandibuloacral dysplasia with type A lipodystrophy

CFTR	(UniProt - OMIM)	LMNA	(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	(0.63)	LMNA

Citations in the biomedical literature:

Cystic fibrosis		Mandibuloacral dysplasia with type A lipodystrophy
	Synonym(s): - CF - Mucoviscidosis		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare gastroenterologic disease - Rare genetic disease - Rare infertility - Rare respiratory disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic 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: - Average age onset: - Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: D003550		External references: 1 OMIM reference - 1 MeSH reference: C535705


COMMON SIGNS	- Autosomal recessive inheritance

Cystic fibrosis		Mandibuloacral dysplasia with type A lipodystrophy
	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 - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Alopecia - Clavicle absent / abnormal - Large fontanelle / delayed fontanelle closure - Osteolysis / osteoclasia / bone destruction / erosions - Premature ageing - Restricted joint mobility / joint stiffness / ankylosis - Short stature / dwarfism / nanism - Skin hypoplasia / aplasia / atrophy - Terminal / third phalangeal bone of fingers hypoplasia - Wormian bones Frequent - Eyebrows anomalies - Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia - Insulin resistance - Proptosis / exophthalmos Occasional - Abnormal pigmentary skin changes / skin pigmentation anomalies - Anomalies of cartilages, joints and periarticular tissue - Anomalies of eyelids, eyelashes and lacrimal system - Anomalies of teeth and dentition - Articular / joint pain / arthralgia - Breast tissue / mammary gland absence / aplasia - Cataract / lens opacification - Hearing loss / hypoacusia / deafness - High vaulted / narrow palate - Hypotonia - Muscle anomalies - Tight skin / lack of elasticity