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Results 1 - 10 of 173 for Inherited lung disorders
  1. Alpha-1 antitrypsin deficiency 
    Alpha-1 antitrypsin deficiency is an inherited disorder that may cause lung disease and liver disease. The signs and symptoms of the condition and the age at which they appear vary among individuals.People ...
    https://medlineplus.gov/.../condition/alpha-1-antitrypsin-deficiency - Genetics
  2. DICER1 syndrome 
    DICER1 syndrome is an inherited disorder that ... gland in the lower neck). Affected individuals can develop one or more types ...
    https://medlineplus.gov/genetics/condition/dicer1-syndrome - Genetics
  3. Birt-Hogg-Dubé syndrome 
    ... determined how FLCN mutations increase the risk of lung problems, such as pneumothorax. FLCN This condition is inherited in an autosomal dominant pattern, which means one copy of the altered FLCN gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the ...
    https://medlineplus.gov/genetics/condition/birt-hogg-dube-syndrome - Genetics
  4. Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis 
    ... H, Akiyama M, Simpson MA, McGrath JA. Syndromic inherited poikiloderma due to a de novo mutation in FAM111B. Br J Dermatol. 2017 Feb;176(2):534-536. doi: 10.1111/bjd.14845. Epub 2016 Dec 22. No abstract available. Citation on PubMed
    https://medlineplus.gov/...tractures-myopathy-and-pulmonary-fibrosis - Genetics
  5. Brain-lung-thyroid syndrome 
    ... affected in others. NKX2-1 ... BLT syndrome Brain-thyroid-lung syndrome CAHTP Choreoathetosis, hypothyroidism, and neonatal respiratory distress ...
    https://medlineplus.gov/.../condition/brain-lung-thyroid-syndrome - Genetics
  6. Bare lymphocyte syndrome type I 
    ... lymphocyte syndrome type I (BLS I) is an inherited disorder of the immune ... the lungs and airways (respiratory tract). These recurrent infections can ...
    https://medlineplus.gov/.../bare-lymphocyte-syndrome-type-i - Genetics
  7. Lymphedema-distichiasis syndrome 
    ... formation of veins and the development of the lungs, eyes, kidneys and urinary tract, cardiovascular system, and the transport system for immune ... with distichiasis Genetic Testing ...
    https://medlineplus.gov/.../lymphedema-distichiasis-syndrome - Genetics
  8. Frontometaphyseal dysplasia 
    ... the passages leading from the windpipe to the lungs (the bronchi) that can cause problems with ... been reported worldwide. ...
    https://medlineplus.gov/.../condition/frontometaphyseal-dysplasia - Genetics
  9. Protein C deficiency 
    ... travel through the bloodstream and lodge in the lungs, causing a ... another inherited disorder of blood clotting in addition to protein C ...
    https://medlineplus.gov/genetics/condition/protein-c-deficiency - Genetics
  10. Pseudohypoaldosteronism type 1 
    ... signs and symptoms of autosomal recessive PHA1, including lung infections and skin lesions. ... which means one copy of the altered gene in each cell is sufficient to cause the disorder. When PHA1 is caused by mutations in the ...
    https://medlineplus.gov/.../condition/pseudohypoaldosteronism-type-1 - Genetics
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