| General information | Literature | Expression | Regulation | Mutation | Interaction |
Basic Information | |
|---|---|
Gene ID | 161742 |
Name | SPRED1 |
Synonymous | NFLS;sprouty-related, EVH1 domain containing 1;SPRED1;sprouty-related, EVH1 domain containing 1 |
Definition | EVH1/Sprouty domain containing protein|hSpred1|spred-1|sprouty-related, EVH1 domain-containing protein 1|suppressor of Ras/MAPK activation |
Position | 15q14 |
Gene type | protein-coding |
Cancer type | Abstract |
| Legius Syndrome;Related syndrome | BTI - GeneReviews#. Legius syndrome is characterized by multiple cafe au lait macules without neurofibromas or other tumor manifestations of neurofibromatosis type 1 (NF1). Additional clinical manifestations reported commonly include intertriginous freckling, lipomas, macrocephaly, and learning disabilities / ADHD / developmental delays. Current knowledge of the natural history of Legius syndrome is based on the clinical manifestations of fewer than 200 individuals with a molecularly confirmed diagnosis; better delineation of the clinical manifestations and natural history of Legius syndrome will likely occur as more affected individuals are identified. The diagnosis of Legius syndrome is difficult to make on clinical grounds alone. Detection of a mutation in SPRED1, the only gene known to be associated with Legius syndrome, is necessary to confirm the diagnosis. Treatment of manifestations: Consideration of behavioral modification and/or pharmacologic therapy for those with ADHD; physical, speech,and occupational therapy for those with identified developmental delays; individualized education plans for those with learning disorders. Surveillance: Routine screening for developmental delays, and behavioral and learning problems. Legius syndrome is inherited in an autosomal dominant manner. Each child of an individual with Legius syndrome has a 50% chance of inheriting the mutation. Although uncommonly requested, prenatal diagnosis for pregnancies at increased risk is possible if the disease-causing mutation of an affected family member has been identified.#CI- Copyright (c) 1993-2013, University of Washington, Seattle. ALL rights reserved.#FED - Pagon, Roberta A#ED- Pagon RA#FED - Adam, Margaret P#ED- Adam MP#FED - Bird, Thomas D#ED- Bird TD#FED - Dolan, Cynthia R#ED- Dolan CR#FED - Fong, Chin-To#ED- Fong CT#FED - Stephens, Karen#ED- Stephens K#FAU - Stevenson, David |