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Cystic fibrosis (also known as CF or mucoviscidosis) is an autosomal recessive genetic disorder affecting most critically the lungs, and also the pancreas, liver, and intestine.
Fibrous dysplasia is a mosaic disease resulting from post-zygotic activating mutations of the GNAS locus at 20q13.2-q13.3, which codes for the α subunit of the G s G protein-coupled receptor. [13] In bone, constitutive G s α signaling results in impaired differentiation and proliferation of bone marrow stromal cells . [ 14 ]
Clubbing is associated with lung cancer, lung infections, interstitial lung disease, cystic fibrosis, or cardiovascular disease. [5] Clubbing may also run in families, [5] and occur unassociated with other medical problems. [6] [7] Clubbing has been recognized as a sign of disease since the time of Hippocrates. [5]
Cystic fibrosis–related diabetes (CFRD) is diabetes specifically caused by cystic fibrosis, a genetic condition. Cystic fibrosis related diabetes mellitus (CFRD) develops with age, and the median age at diagnosis is 21 years. [1] It is an example of type 3c diabetes – diabetes that is caused by damage to the pancreas from another disease or ...
Osteitis fibrosa cystica (/ ˌ ɒ s t i ˈ aɪ t ɪ s f aɪ ˈ b r oʊ s ə ˈ s ɪ s t ɪ k ə / OSS-tee-EYE-tis fy-BROH-sə SIS-tik-ə) is a skeletal disorder resulting in a loss of bone mass, a weakening of the bones as their calcified supporting structures are replaced with fibrous tissue (peritrabecular fibrosis), and the formation of cyst-like brown tumors in and around the bone.
Canavan disease: 17p Charcot–Marie–Tooth disease: 17p12 [1] Dup Color blindness: X P Cri du chat syndrome: 5 D Cystic fibrosis: 7q P DiGeorge syndrome: 22q D Down syndrome: 21 C Duchenne muscular dystrophy: Xp D Familial hypercholesterolemia: 19 P Haemochromatosis type 1: 6 P Hemophilia: X P Klinefelter syndrome: X C Neurofibromatosis: 17q ...
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1–15% of cystic fibrosis patients and 2.5% of adults with severe asthma. [ 3 ] Allergic bronchopulmonary aspergillosis ( ABPA ) is a condition characterised by an exaggerated response of the immune system (a hypersensitivity response ) to the fungus Aspergillus (most commonly Aspergillus fumigatus ).
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