Here I present: “Hereditary Lymphatic Edema”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 遺傳性淋巴水腫。icd10=Q82.0 (LMPHM1).
INTRODUCTION.
Hereditary lymphatic edema is a condition of localized swelling caused by a compromised lymphatic system. The lymphatic system functions as a critical portion of the body’s immune system and returns interstitial fluid to the bloodstream.
Hereditary lymphatic edema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts. There may be accompanying nail and skin changes, such as nail dysplasia or papillomatosis. Onset is usually at birth or in early childhood, the severity is variable.
There is evidence that hereditary lymphatic edema (LMPHM1) is caused by homozygous mutation in the fms-related tyrosine kinase-4 (FLT4) gene on cytogenetic location 5q35.3 and genomic coordinates 5:180,601,506-180,650,298 . The screenshot of the FLT4 gene 48,793 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides FLT4 in the 5q35.3 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 5:180,233,143 | MAPK9 | Mitogen-activated protein kinase 9 |
| 5:180,300,698 | GFPT2 | Glutamine: fructose-6-phosphate amidotransferase 2 |
| 5:180,494,379 | CNOT6 | CCR4-NOT transcription complex, subunit 6 |
| 5:180,590,105 | SCGB3A1 | Secretoglobin, family 3A, member 1 |
| 5:180,601,506 | FLT4 | fms-related tyrosine kinase-4 |
| 5:180,784,780 | MGAT1 | Mannosyl (alpha-1,3-)-glycoprotein beta-1,2, N-acetylglucosaminyltransferase |
| 5:180,826,870 | ZFP62 | Zinc finger protein 62 |
| 5:180,829,954 | HEIH | Hepatocellular carcinoma-upregulated EZH2-associated long noncoding RNA |
| 5:180,899,159 | BTNL8 | Butyrophilin-like protein 8 |
| 5:180,988,846 | BTNL3 | Butyrophilin-like protein 3 |
