Here I present: “Von Hippel-Lindau Syndrome”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 冯·希佩尔-林杜综合征。(VHLS).
INTRODUCTION.
Von Hippel–Lindau syndrome (VHLS) is a genetic disorder with multisystem involvement. It is characterized by visceral cysts and benign tumors with potential for subsequent malignant transformation.
It is a type of phakomatosis (multisystemic diseases that affect structures derived from ectoderm) that results from a mutation in the Von Hippel–Lindau tumor suppressor gene (VHL) on cytogenetic location 3p25.3 and genomic coordinates 3:10,141,778-10,153,667. The screenshot of the VHL gene 11,890 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides VHL in the 3p25.3 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 3:9,947,404 | PRRT3AS1 | PRRT3 antisense RNA 1, noncoding |
| 3:9,962,682 | EMC3 | Endoplasmic reticulum membrane protein 3 |
| 3:10,026,437 | FANCD2 | Fanconi anemia, complementation group D2 |
| 3:10,115,675 | BRK1 | BRICK1: SCAR/WAVE actin-nucleating complex |
| 3:10,141,778 | VHL | von Hippel-Lindau tumor suppressor |
| 3:10,164,919 | IRAK2 | Interleukin 1 receptor-associated kinase 2 |
| 3:10,248,459 | TATDN2 | TatD DNase domain-containing protein 2 |
| 3:10,280,952 | GHRLOS | Ghrelin opposite strand, noncoding |
| 3:10,285,666 | GHRL | Ghrelin |
| 3:10,300,931 | SEC13 | SEC13 homolog |
