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Results 1 - 10 of 37 for Vascular skin abnormality
  1. SMAD3 gene 
    ... Dietz syndrome type III is characterized by abnormal blood vessels, skeletal and joint deformities, and skin abnormalities. Some of the mutations that cause this disorder ...
    https://medlineplus.gov/genetics/gene/smad3 - Genetics
  2. PIK3CA gene 
    ... on the skin over it, in addition to blood vessel, skin, and bone abnormalities. It is unknown whether individuals with these disorders ...
    https://medlineplus.gov/genetics/gene/pik3ca - Genetics
  3. EFEMP2 gene 
    ... ARCL1B), which is characterized by loose and sagging skin, a lung disease called emphysema, and severe abnormalities involving the heart and blood vessels.Variants in the EFEMP2 gene likely prevent cells ...
    https://medlineplus.gov/genetics/gene/efemp2 - Genetics
  4. STAMBP gene 
    ... delay and intellectual disability, recurrent seizures (epilepsy), and abnormalities of small blood vessels in the skin called capillaries (capillary malformations).The known STAMBP gene ...
    https://medlineplus.gov/genetics/gene/stambp - Genetics
  5. STAT3 gene 
    ... of the immune system that leads to recurrent skin and lung infections as well as abnormalities of the bones, teeth, and blood vessels. The condition is characterized by high levels of ...
    https://medlineplus.gov/genetics/gene/stat3 - Genetics
  6. SMAD4 gene 
    ... hereditary hemorrhagic telangiectasia, a disorder characterized by certain ... near the surface of the skin, where they are visible as red markings, they ...
    https://medlineplus.gov/genetics/gene/smad4 - Genetics
  7. LTBP4 gene 
    ... such as the skin, lungs, heart, ligaments, and blood vessels. ... called emphysema, and abnormalities involving the digestive and urinary systems.Most of ...
    https://medlineplus.gov/genetics/gene/ltbp4 - Genetics
  8. ELN gene 
    ... in many connective tissues. As a result, large blood vessels such as the ... such as joint problems, soft skin, and mild lung problems. Loss of the ELN ...
    https://medlineplus.gov/genetics/gene/eln - Genetics
  9. RASA1 gene 
    ... lack of p120-RasGAP leads to the specific vascular abnormalities and limb overgrowth that occur in Parkes Weber syndrome. More About This Health Condition At least three mutations in the RASA1 gene have been detected in a form of skin cancer called basal cell carcinoma. These mutations are ...
    https://medlineplus.gov/genetics/gene/rasa1 - Genetics
  10. FBN1 gene 
    ... certain joints. The signs and symptoms of stiff skin syndrome usually become ... aorta (a large blood vessel that distributes blood from the heart to the ...
    https://medlineplus.gov/genetics/gene/fbn1 - Genetics
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