MCID: LGS001
MIFTS: 44

Legius Syndrome malady

Genetic diseases, Rare diseases, Skin diseases, Fetal diseases, Neuronal diseases categories

Aliases & Classifications for Legius Syndrome

About this section
Sources:
45OMIM, 10diseasecard, 19GeneReviews, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 47Orphanet, 22GTR, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Legius Syndrome, Aliases & Descriptions:

Name: Legius Syndrome 45 10 19 41 20 21 47 22
Neurofibromatosis Type 1-Like Syndrome 19 21
Neurofibromatosis 1-Like Syndrome 41 47
Nf1-Like Syndrome 41 47
 
Neurofibromatosis, Type 1-Like Syndrome 60
Neurofibromatosis Type 1 Like Syndrome 41
Nfls 21


Classifications:



Characteristics (Orphanet epidemiological data):

47
legius syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Worldwide); Age of onset: Childhood,Infancy,Neonatal; Age of death: normal life expectancy


External Ids:

OMIM45 611431
Orphanet47 137605
MESH via Orphanet34 C548032
ICD10 via Orphanet26 Q85.0
UMLS via Orphanet61 C1969623

Summaries for Legius Syndrome

About this section


OMIM:45 Legius syndrome is an autosomal dominant disorder that shows some similarities to neurofibromatosis type I (NF1;... (611431) more...

MalaCards based summary: Legius Syndrome, also known as neurofibromatosis type 1-like syndrome, is related to neurofibromatosis and neurofibromatosis, type 1, and has symptoms including abnormality of the sternum, autosomal dominant inheritance and high palate. An important gene associated with Legius Syndrome is SPRED1 (sprouty-related, EVH1 domain containing 1), and among its related pathways are Kit Receptor Signaling Pathway and EGFR downregulation. Affiliated tissues include skin, and related mouse phenotypes are craniofacial and respiratory system.

Genetics Home Reference:21 Legius syndrome is a condition characterized by changes in skin coloring (pigmentation). Almost all affected individuals have multiple caf├ę-au-lait spots, which are flat patches on the skin that are darker than the surrounding area. Another pigmentation change, freckles in the armpits and groin, may occur in some affected individuals.

Wikipedia:63 Legius syndrome (LS) is an autosomal dominant condition characterized by cafe au lait spots. It was... more...

GeneReviews summary for legius

Related Diseases for Legius Syndrome

About this section

Diseases related to Legius Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
idRelated DiseaseScoreTop Affiliating Genes
1neurofibromatosis30.7NF1, SPRED1
2neurofibromatosis, type 110.4
3lateral sclerosis10.2
4neuronitis10.2
5piebaldism10.1
6hiv-110.0
7charcot-marie-tooth disease10.0
8hydrocephalus10.0
9normal pressure hydrocephalus10.0
10craniopharyngioma10.0
11retinitis10.0
12substance abuse10.0
13tauopathy10.0
14tooth disease10.0
15head injury10.0
16subcortical arteriosclerotic encephalopathy10.0

Graphical network of diseases related to Legius Syndrome:



Diseases related to legius syndrome

Symptoms for Legius Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

611431

Clinical features from OMIM:

611431

HPO human phenotypes related to Legius Syndrome:

(show all 19)
id Description Frequency HPO Source Accession
1 abnormality of the sternum rare (5%) HP:0000766
2 autosomal dominant inheritance HP:0000006
3 high palate HP:0000218
4 macrocephaly HP:0000256
5 epicanthus HP:0000286
6 hypertelorism HP:0000316
7 triangular face HP:0000325
8 micrognathia HP:0000347
9 low-set, posteriorly rotated ears HP:0000368
10 short neck HP:0000470
11 downslanted palpebral fissures HP:0000494
12 ptosis HP:0000508
13 cafe-au-lait spot HP:0000957
14 axillary freckling HP:0000997
15 multiple lipomas HP:0001012
16 neurofibromas HP:0001067
17 specific learning disability HP:0001328
18 low posterior hairline HP:0002162
19 attention deficit hyperactivity disorder HP:0007018

Drugs & Therapeutics for Legius Syndrome

About this section

Drug clinical trials:

Search ClinicalTrials for Legius Syndrome

Search NIH Clinical Center for Legius Syndrome

Genetic Tests for Legius Syndrome

About this section

Genetic tests related to Legius Syndrome:

id Genetic test Affiliating Genes
1 Legius Syndrome20 22 SPRED1

Anatomical Context for Legius Syndrome

About this section

MalaCards organs/tissues related to Legius Syndrome:

31
Skin

Animal Models for Legius Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Legius Syndrome:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.8SPRY4, SPRED1, SPRY2, NF1
2MP:00053888.6SPRY4, SPRED1, SPRY2, NF1
3MP:00053718.4SPRY4, SPRED2, SPRED1, SPRY2, NF1
4MP:00053788.4SPRY4, SPRED2, SPRED1, SPRY2, NF1

Publications for Legius Syndrome

About this section

Articles related to Legius Syndrome:

(show all 18)
idTitleAuthorsYear
1
Legius syndrome: case report and review of literature. (25883013)
2015
2
SPRED1, a RAS MAPK pathway inhibitor that causes Legius syndrome, is a tumour suppressor downregulated in paediatric acute myeloblastic leukaemia. (24469042)
2014
3
Legius Syndrome, an Update.Molecular Pathology of Mutations in SPRED1. (24334617)
2013
4
Review and update of SPRED1 mutations causing Legius syndrome. (22753041)
2012
5
A shared molecular mechanism underlies the human rasopathies Legius syndrome and Neurofibromatosis-1. (22751498)
2012
6
CafAc-au-lait macules and intertriginous freckling in piebaldism: clinical overlap with neurofibromatosis type 1 and Legius syndrome. (22438235)
2012
7
Legius syndrome in fourteen families. (21089071)
2011
8
Identification of five novel SPRED1 germline mutations in Legius syndrome. (21649642)
2011
9
The SPRED1 Variants Repository for Legius Syndrome. (22384355)
2011
10
Observations on intelligence and behavior in 15 patients with Legius syndrome. (21495177)
2011
11
Novel human pathological mutations. Gene symbol: SPRED1. Disease: Legius syndrome. (20108421)
2010
12
Novel human pathological mutations. Gene symbol: SPRED1. Disease: Legius syndrome. (20108385)
2010
13
Novel human pathological mutations. Gene symbol: SPRED1. Disease: Legius syndrome. (20108422)
2010
14
Novel human pathological mutations. Gene symbol: SPRED1. Disease: Legius syndrome. (20108386)
2010
15
Novel human pathological mutations. Gene symbol: SPRED1. Disease: Legius syndrome. (20108420)
2010
16
SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype. (19443465)
2009
17
Pigmentary findings in neurofibromatosis type 1-like syndrome (Legius syndrome): potential diagnostic dilemmas. (19920242)
2009
18
Legius Syndrome (20945555)
1993

Variations for Legius Syndrome

About this section

UniProtKB/Swiss-Prot genetic disease variations for Legius Syndrome:

62
id Symbol AA change Variation ID SNP ID
1SPRED1p.Trp31CysVAR_064827
2SPRED1p.Val44AspVAR_064828

Clinvar genetic disease variations for Legius Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1SPRED1NM_152594.2(SPRED1): c.349C> T (p.Arg117Ter)single nucleotide variantPathogenicrs121434312GRCh37Chr 15, 38614583: 38614583
2SPRED1NM_152594.2(SPRED1): c.70C> T (p.Arg24Ter)single nucleotide variantPathogenicrs121434313GRCh37Chr 15, 38591611: 38591611
3SPRED1SPRED1, IVS5DS, G-A, +1single nucleotide variantPathogenic
4SPRED1NM_152594.2(SPRED1): c.643C> T (p.Gln215Ter)single nucleotide variantPathogenicrs121434314GRCh37Chr 15, 38641683: 38641683
5SPRED1NM_152594.2(SPRED1): c.190C> T (p.Arg64Ter)single nucleotide variantPathogenicrs121434315GRCh37Chr 15, 38591731: 38591731
6SPRED1NM_152594.2(SPRED1): c.637C> T (p.Gln213Ter)single nucleotide variantPathogenicrs121434316GRCh37Chr 15, 38641677: 38641677
7SPRED1NM_152594.2(SPRED1): c.784A> T (p.Arg262Ter)single nucleotide variantPathogenicrs121434317GRCh37Chr 15, 38643314: 38643314
8SPRED1NM_152594.2(SPRED1): c.131T> A (p.Val44Asp)single nucleotide variantPathogenicrs121434318GRCh37Chr 15, 38591672: 38591672
9SPRED1SPRED1, 2-BP DEL, 1045AGdeletionPathogenic

Expression for genes affiliated with Legius Syndrome

About this section
Search GEO for disease gene expression data for Legius Syndrome.

Pathways for genes affiliated with Legius Syndrome

About this section

Pathways related to Legius Syndrome according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Signaling events mediated by Stem cell factor receptor (c-Kit)36
9.7SPRED1, SPRED2
29.6SPRY1, SPRY2
3
Show member pathways
Prostate Cancer36
Integrated Cancer pathway36
Steroid Biosynthesis36
9.6SPRY2, SPRY1
4
Show member pathways
Type III interferon signaling36
7.6SPRY2, SPRED1, SPRED2, SPRY1, SPRED3, SPRY4

Compounds for genes affiliated with Legius Syndrome

About this section

GO Terms for genes affiliated with Legius Syndrome

About this section

Cellular components related to Legius Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1ruffle membraneGO:00325879.7SPRY2, SPRY4

Biological processes related to Legius Syndrome according to GeneCards Suite gene sharing:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1regulation of protein deacetylationGO:00903119.9SPRED1, SPRED2
2negative regulation of Ras GTPase activityGO:00342619.7SPRY2, SPRY1
3positive regulation of DNA damage response, signal transduction by p53 class mediatorGO:00435179.7SPRED1, SPRED2
4negative regulation of neurotrophin TRK receptor signaling pathwayGO:00513879.7SPRY2, SPRY1
5negative regulation of fibroblast growth factor receptor signaling pathwayGO:00400379.6SPRY1, SPRY2
6negative regulation of epidermal growth factor receptor signaling pathwayGO:00420599.6SPRY2, SPRY1
7negative regulation of peptidyl-threonine phosphorylationGO:00108019.6SPRY2, SPRED1, SPRED2
8metanephros developmentGO:00016569.3NF1, SPRY1
9negative regulation of Ras protein signal transductionGO:00465809.3SPRY1, SPRY2, NF1
10negative regulation of ERK1 and ERK2 cascadeGO:00703739.3SPRY2, SPRY1
11inactivation of MAPK activityGO:00001889.1SPRED3, SPRED2, SPRED1
12negative regulation of MAP kinase activityGO:00434078.9NF1, SPRY2, SPRY1, SPRY4
13multicellular organismal developmentGO:00072758.3SPRED1, SPRED2, SPRED3, SPRY4, SPRY3

Molecular functions related to Legius Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1stem cell factor receptor bindingGO:00051739.4SPRED1, SPRED2
2protein kinase bindingGO:00199019.3SPRY2, SPRED1, SPRED2
3protein serine/threonine kinase inhibitor activityGO:00302919.2SPRY2, SPRED1, SPRED2

Products for genes affiliated with Legius Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Legius Syndrome

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet