| Debug Stats | ### Total Build Time: 53 ms 40.535 KB CONCEPT_NAME gt=4 ms Completed: 4 ms rowSize= 367 bytesCONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytesCONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 228 bytes- Skipping details on:
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Genes (17)
Species:
human : 17 | |
| Human | AGGF1 | 55109 | angiogenic factor with G patch and FHA domains 1 | | | Human | SOX18 | 54345 | SRY (sex determining region Y)-box 18 | Lower limb lymphedema (variable onset, age four to teens) Mutations in SOX18 underlie recessive and dominat forms of hypertrichosis-lymphedema- telangiectasis/ | | Human | TLR9 | 54106 | toll-like receptor 9 | INFERRED, Score=800, UMLKSK CUI: C0024236 | | Human | VEGFC | 7424 | vascular endothelial growth factor C | Genetic analysis of families with Milroy;s disease identified mutations in VEGFR3 as a cause of congenital lymphedema, confirming the importance of VEGFC/VEGFR3 signaling in lymphatic development. | | Human | VEGFA | 7422 | vascular endothelial growth factor A | INFERRED, Score=800, UMLKSK CUI: C0024236 | | Human | TLR4 | 7099 | toll-like receptor 4 | INFERRED, Score=800, UMLKSK CUI: C0024236 | | Human | TLR2 | 7097 | toll-like receptor 2 | INFERRED, Score=800, UMLKSK CUI: C0024236 | | Human | TLR1 | 7096 | toll-like receptor 1 | INFERRED, Score=800, UMLKSK CUI: C0024236 | | Human | PTPN11 | 5781 | protein tyrosine phosphatase, non-receptor type 11 | | | Human | RELN | 5649 | reelin | In one family, the association of cortical dysplasia and congenital lymphedema have been related to mutations in the RELN gene. | | Human | NAGA | 4668 | N-acetylgalactosaminidase, alpha- | | | Human | MET | 4233 | met proto-oncogene | identification of HGF/MET mutations in primary lymphedema, lymphedema/lymphangiectasia, and breast cancer-associated secondary lymphedema suggests that the HGF/MET pathway is causal or alters susceptibility for a broad range of lymphedema phenotypes | | Human | HGF | 3082 | hepatocyte growth factor (hepapoietin A; scatter factor) | identification of HGF/MET mutations in primary lymphedema, lymphedema/lymphangiectasia, and breast cancer-associated secondary lymphedema suggests that the HGF/MET pathway is causal or alters susceptibility for a broad range of lymphedema phenotypes | | Human | GLA | 2717 | galactosidase, alpha | | | Human | FLT4 | 2324 | fms-related tyrosine kinase 4 | Two responsible genes have been identified: the vascular endothelial growth factor receptor 3 (VEGFR3) gene, implicated in congenital lymphedema, or Milroy disease, and the forkhead-related transcription factor gene FOXC2, causing lymphedema-distichiasis. Lymphedema that presents at puberty is called Meige disease ({153200}) Genetic analysis of families with Milroy;s disease identified mutations in VEGFR3 as a cause of congenital lymphedema, confirming the importance of VEGFC/VEGFR3 signaling in lymphatic development. Lymphedema, predominantly in the lower limbs | | Human | FOXO3 | 2309 | forkhead box O3 | FOXO3 mutation did not show any pathogenic change in lymphedema patients | | Human | FOXC2 | 2303 | forkhead box C2 (MFH-1, mesenchyme forkhead 1) | Lymphedema, predominantly in the lower limbs Allelic disorders with overlapping phenotypes include the lymphedema-distichisis syndrome ({153400}), lymphedema and ptosis ({153000}), and yellow nail and lymphedema syndrome ({153300}) Allelic disorders with overlapping phenotypes include hereditary lymphedema type II ({153200}), lymphedema and ptosis ({153000}), and the lymphedema-distichiasis syndrome ({153400}) lymphedema-distichiasis disorder is linked to a novel missense mutation in a patient Allelic disorders with overlapping phenotypes include hereditary lymphedema type II ({153200}), lymphedema and ptosis ({153000}), and yellow nail and lymphedema syndrome ({153300}) Onset of lymphedema around puberty confirmation that of the primary lymphoedemas, only lymphoedema with distichiasis is caused by FOXC2 mutations [Fox2C] An out-of-frame deletion (914-921del) was identified and found to segregate with distichiasis-lymphedema syndrome, further highlighting the phenotypic heterogeneity of lymphedema conditions linked to FOXC2 truncating mutations |
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