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Results 1 - 10 of 49 for Pulmonary hypoplasia
  1. FLCN gene 
    ... a loss of folliculin increases the risk of lung abnormalities that are often associated with Birt-Hogg-Dubé syndrome. More About This Health Condition At ... the space between the lungs and the chest cavity (plural space), potentially leading ...
    https://medlineplus.gov/genetics/gene/flcn - Genetics
  2. COL2A1 gene 
    ... and legs, a small chest with underdeveloped lungs (lung hypoplasia), and a lack of normal bone formation (ossification) ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics
  3. SF3B4 gene 
    ... the face, arms, and legs as well as lung abnormalities. Affected individuals have abnormally short arm bones, such ...
    https://medlineplus.gov/genetics/gene/sf3b4 - Genetics
  4. EIF2AK4 gene 
    ... absence of EIF2AK4 protein function leads to the pulmonary vein abnormalities characteristic of PVOD. More About This Health Condition MedlinePlus Genetics provides information about Pulmonary arterial hypertension More About This Health Condition E2AK4_ ...
    https://medlineplus.gov/genetics/gene/eif2ak4 - Genetics
  5. LMNA gene 
    ... with this disorder have tight, rigid skin; underdeveloped lungs; and other abnormalities. They do not usually survive past the first ...
    https://medlineplus.gov/genetics/gene/lmna - Genetics
  6. ZMPSTE24 gene 
    ... with this disorder have tight, rigid skin; underdeveloped lungs; and other abnormalities. They do not usually survive past the first ...
    https://medlineplus.gov/genetics/gene/zmpste24 - Genetics
  7. STAT3 gene 
    ... immune system that leads to recurrent skin and lung infections as well as abnormalities of the bones, teeth, and blood vessels. The ... other immune system cells. The resulting immune system abnormalities make ... affecting the lungs and skin. A shortage of functioning STAT3 protein ...
    https://medlineplus.gov/genetics/gene/stat3 - Genetics
  8. LTBP4 gene 
    ... is characterized by loose and sagging skin, a lung disease called emphysema, and abnormalities involving the digestive and urinary systems.Most of the LTBP4 gene variants involved in cutis laxa change single DNA building ... in the skin, lungs, and other organs. These defects in connective tissue ...
    https://medlineplus.gov/genetics/gene/ltbp4 - Genetics
  9. AFF4 gene 
    ... impairment, coarse facial features, heart defects, obesity, lung (pulmonary) involvement, short stature, and skeletal abnormalities.The AFF4 gene mutations identified in people with ...
    https://medlineplus.gov/genetics/gene/aff4 - Genetics
  10. EFEMP2 gene 
    ... is characterized by loose and sagging skin, a lung disease called emphysema, and severe abnormalities involving the heart and blood vessels.Variants in ...
    https://medlineplus.gov/genetics/gene/efemp2 - Genetics
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