neurofibromatosis type 1-like syndrome
Term · Oncology and biomedicine · MLC-T-ONC-005767
A rare genetic condition marked by flat brown spots on the skin. The number of brown spots on the skin tends to increase throughout childhood. Other signs and symptoms include an abnormally large head, unusual facial features, and freckling in the armpits and groin. People with this syndrome may have mild learning and developmental delays. Neurofibromatosis type 1-like syndrome is a type of disease called a RASopathy that is caused by mutations (changes) in the SPRED1 gene. This gene makes a protein involved in a cell signaling pathway that controls many important cell functions. Also called Legius syndrome.
| Identifier | MLC-T-ONC-005767 |
|---|---|
| Field | Oncology and biomedicine |
| Synonyms | Legius syndrome |
| References | NCI Dictionary of Cancer Terms |
Record as JSON
{
"id": "MLC-T-ONC-005767",
"term": "neurofibromatosis type 1-like syndrome",
"field": "Oncology and biomedicine",
"definition": "A rare genetic condition marked by flat brown spots on the skin. The number of brown spots on the skin tends to increase throughout childhood. Other signs and symptoms include an abnormally large head, unusual facial features, and freckling in the armpits and groin. People with this syndrome may have mild learning and developmental delays. Neurofibromatosis type 1-like syndrome is a type of disease called a RASopathy that is caused by mutations (changes) in the SPRED1 gene. This gene makes a protein involved in a cell signaling pathway that controls many important cell functions. Also called Legius syndrome.",
"synonyms": [
"Legius syndrome"
],
"references": [
"NCI Dictionary of Cancer Terms"
],
"url": "https://mlchart.com/terminology/oncology/neurofibromatosis-type-1-like-syndrome/"
}
Record 11,751 of 17,721 in Oncology and biomedicine terminology (MLC-0111). Request the full dataset.