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Results 1 - 10 of 10 for Lymphatic malformation 3
  1. GJC2 gene 
    ... GJC2 PubMed GAP JUNCTION PROTEIN, GAMMA-2; GJC2 LYMPHATIC MALFORMATION 3; LMPHM3 SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE; SPG44 NCBI ...
    https://medlineplus.gov/genetics/gene/gjc2 - Genetics
  2. Milroy disease 
    ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov LYMPHATIC MALFORMATION 1; LMPHM1 PubMed Brice G, Child AH, Evans A, Bell R, Mansour S, Burnand K, Sarfarazi M, Jeffery S, Mortimer P. Milroy disease and the VEGFR-3 mutation phenotype. J Med Genet. 2005 Feb;42( ...
    https://medlineplus.gov/genetics/condition/milroy-disease - Genetics
  3. CCBE1 gene 
    ... cause Hennekam syndrome, an inherited disorder resulting from malformation of the lymphatic system. Most CCBE1 gene mutations change single protein building blocks (amino acids) in the CCBE1 protein leading to a change in the three-dimensional shape of the protein. The abnormal protein ...
    https://medlineplus.gov/genetics/gene/ccbe1 - Genetics
  4. Hennekam syndrome 
    ... gene mutations that cause Hennekam syndrome change the three-dimensional shape of the ... of lymphatic vessels leads to lymphangiectasia, lymphedema, and ...
    https://medlineplus.gov/genetics/condition/hennekam-syndrome - Genetics
  5. Meige disease 
    ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov LYMPHATIC MALFORMATION 5; LMPHM5 PubMed Connell FC, Gordon K, Brice ... FOXC2. Eur J Hum Genet. 2008 Mar;16(3):300-4. doi: 10.1038/sj.ejhg.5201982. ...
    https://medlineplus.gov/genetics/condition/meige-disease - Genetics
  6. PIK3CA gene 
    ... one piece (subunit) of an enzyme called phosphatidylinositol 3-kinase (PI3K). The p110α protein is called the ...
    https://medlineplus.gov/genetics/gene/pik3ca - Genetics
  7. FAT4 gene 
    ... cause Hennekam syndrome, an inherited disorder resulting from malformation of the lymphatic system, which consists of a network of vessels ... FAT4. Int J Mol Med. 2006 Sep;18(3):523-8. Citation on PubMed
    https://medlineplus.gov/genetics/gene/fat4 - Genetics
  8. DLL4 gene 
    ... Oliver Syndrome. Am J Hum Genet. 2015 Sep 3;97(3):475-82. doi: 10.1016/j.ajhg.2015. ...
    https://medlineplus.gov/genetics/gene/dll4 - Genetics
  9. Klippel-Trenaunay syndrome 
    ... skin and muscles), and bones. The disorder has three characteristic features: a red birthmark called a port- ... one piece (subunit) of an enzyme called phosphatidylinositol 3-kinase (PI3K). PI3K plays a role in chemical ...
    https://medlineplus.gov/.../condition/klippel-trenaunay-syndrome - Genetics
  10. Megalencephaly-capillary malformation syndrome 
    ... one piece (subunit) of an enzyme called phosphatidylinositol 3-kinase (PI3K), which plays a role in chemical ... Kurek KC, Warman ML, McCarroll SA, Murillo R. Lymphatic and other vascular malformative/overgrowth ... malformation: Analysis of 13 patients and review of the ...
    https://medlineplus.gov/...encephaly-capillary-malformation-syndrome - Genetics