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Results 1 - 10 of 22 for Primary 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 least eight mutations in the FLCN gene have been found to cause primary spontaneous pneumothorax. This condition occurs when air builds ...
    https://medlineplus.gov/genetics/gene/flcn - Genetics
  2. Primary ciliary dyskinesia 
    ... called bronchi, leading from the windpipe to the lungs and can cause life-threatening breathing problems.Some individuals with primary ciliary dyskinesia have abnormally placed organs within their chest and abdomen. These abnormalities arise early in embryonic development when the differences ...
    https://medlineplus.gov/.../condition/primary-ciliary-dyskinesia - Genetics
  3. Pulmonary veno-occlusive disease 
    ... veins Pulmonary venoocclusive disease PVOD Venous form of primary pulmonary hypertension Genetic Testing Registry: Pulmonary venoocclusive disease 1 ...
    https://medlineplus.gov/.../pulmonary-veno-occlusive-disease - Genetics
  4. 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
  5. 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
  6. SMARCA4 gene 
    ... analysis of the tumor suppressor BRG1/SMARCA4 in lung primary tumors. Hum Mutat. 2011 Feb;32(2):E1999- ...
    https://medlineplus.gov/genetics/gene/smarca4 - Genetics
  7. Adams-Oliver syndrome 
    ... rare condition that is present at birth. The primary features are an abnormality in skin development (called aplasia cutis congenita) and ... blood vessels between the heart and the lungs (pulmonary hypertension), which can be ... Adams-Oliver ...
    https://medlineplus.gov/genetics/condition/adams-oliver-syndrome - Genetics
  8. WNT4 gene 
    ... WNT4 gene mutation among 28 adolescent girls with primary amenorrhea and mullerian duct abnormalities: a French collaborative study. J Clin Endocrinol Metab. ...
    https://medlineplus.gov/genetics/gene/wnt4 - Genetics
  9. Autosomal dominant hyper-IgE syndrome 
    ... for bones to fracture easily. A common dental abnormality in this condition is that the primary (baby) teeth do not fall out at the ... and other immune cells. The resulting immune system abnormalities make people ... infections of the lungs and skin. The STAT3 protein is also involved ...
    https://medlineplus.gov/.../autosomal-dominant-hyper-ige-syndrome - Genetics
  10. Marfan syndrome 
    ... Marfan syndrome can affect many systems, often causing abnormalities in the heart, blood vessels, eyes, bones, and joints. The two primary features of Marfan syndrome are vision problems caused ...
    https://medlineplus.gov/genetics/condition/marfan-syndrome - Genetics
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