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Results 1 - 10 of 71 for Abnormality on pulmonary function testing
  1. Pulmonary veno-occlusive disease 
    ... is unknown how absence of this protein's function leads to the pulmonary vessel abnormalities that underlie PVOD. BMPR2 EIF2AK4 When caused by ...
    https://medlineplus.gov/.../pulmonary-veno-occlusive-disease - Genetics
  2. Surfactant dysfunction 
    Surfactant dysfunction is a lung disorder that causes breathing problems. This condition results from abnormalities in the composition or function of surfactant, a mixture of certain fats (called phospholipids) and proteins that lines the lung tissue and makes breathing easy. ...
    https://medlineplus.gov/genetics/condition/surfactant-dysfunction - Genetics
  3. Retinal arterial macroaneurysm with supravalvular pulmonic stenosis 
    ... abnormalities that occur in RAMSVPS, or why these abnormalities are ... with a similar function in different tissues may account for the specific ...
    https://medlineplus.gov/...rysm-with-supravalvular-pulmonic-stenosis - Genetics
  4. Autosomal dominant hyper-IgE syndrome 
    ... in the STAT3 gene alter the structure and function of the STAT3 protein, ... infections of the lungs and skin. The STAT3 protein is also involved ...
    https://medlineplus.gov/.../autosomal-dominant-hyper-ige-syndrome - Genetics
  5. Idiopathic pulmonary fibrosis 
    ... more severe disease and a quicker decline in lung function. Additional research is needed to confirm how shortened ... Hunninghake GM. Overlap of Genetic Risk between Interstitial Lung Abnormalities and Idiopathic Pulmonary Fibrosis. Am J Respir Crit ...
    https://medlineplus.gov/.../condition/idiopathic-pulmonary-fibrosis - Genetics
  6. Myhre syndrome 
    ... the skin and internal organs, and heart and lung abnormalities.Growth is reduced in most people with Myhre ... contraction. These cardiovascular problems can be life-threatening.Abnormalities of the lungs and airways (respiratory tract) in people with Myhre ...
    https://medlineplus.gov/genetics/condition/myhre-syndrome - Genetics
  7. Brain-lung-thyroid syndrome 
    ... distress Chreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction Genetic Testing Registry: Benign hereditary chorea Genetic Testing Registry: Brain- ...
    https://medlineplus.gov/.../condition/brain-lung-thyroid-syndrome - Genetics
  8. Klippel-Feil syndrome 
    ... such as abnormal kidneys or reproductive organs, heart abnormalities, or lung defects that can cause breathing problems. Affected individuals may have other skeletal defects including arms or legs of unequal length (limb ... structural brain abnormalities or a type of birth defect that occurs ...
    https://medlineplus.gov/genetics/condition/klippel-feil-syndrome - Genetics
  9. Metatropic dysplasia 
    ... most severe cases, the narrow chest and spinal abnormalities prevent the lungs from expanding fully, which restricts breathing. Researchers formerly ... of cells, but little is known about its function. Studies suggest that it plays a role ... characteristic of metatropic dysplasia. Mutations in the TRPV4 ...
    https://medlineplus.gov/genetics/condition/metatropic-dysplasia - Genetics
  10. Periventricular heterotopia 
    ... size (microcephaly), developmental delays, recurrent infections, blood vessel abnormalities, stomach problems, or lung disease. Periventricular heterotopia may also occur in association ...
    https://medlineplus.gov/.../condition/periventricular-heterotopia - Genetics
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