Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Hereditary broncho-pulmonary disease

This large group of familial broncho-pulmonary disorders includes disturbances of cell metabolism and membrane function as well as dysfunctions of the muscular and nervous systems.

Systematic

Hereditary diseases
Hereditary bone disease
Hereditary broncho-pulmonary disease
Bronchiectasis with or without elevated sweat chloride
Bronchiectasis with or without elevated sweat chloride 1
SCNN1B
Bronchiectasis with or without elevated sweat chloride 2
SCNN1A
Bronchiectasis with or without elevated sweat chloride 3
SCNN1G
Cystinosis
CTNS
Fabry disease
GLA
Hereditary pulmonary embolism
Thromboembolic diseases
Autosomal dominant protein C deficiency
PROC
Autosomal dominant protein S deficiency
PROS1
Autosomal recessive protein C deficiency
PROC
Autosomal recessive protein S deficiency
PROS1
F2
F5
HABP2
MTHFR
SERPINC1
THBD
VKORC1
Hereditary diseases of the hematopoetic system and coagulopathies
Hereditary endocrinological diseases
Hereditary immunological disorders
Hereditary kidney diseases
Hereditary liver disease
Hereditary metabolic diseases
Hereditary neurological disorders
Hereditary ocular disease and visual impairment
Hereditary pancreatic disease
Hereditary susceptibility to infections
Hereditary vascular disease
Hypertension

References:

1.

Audrézet MP et al. (2002) Determination of the relative contribution of three genes-the cystic fibrosis transmembrane conductance regulator gene, the cationic trypsinogen gene, and the pancreatic secretory trypsin inhibitor gene-to the etiology of idiopathic chronic pancreatitis.

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2.

Fajac I et al. (2008) Could a defective epithelial sodium channel lead to bronchiectasis.

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