NFLS
MCID: LGS001
MIFTS: 50

Legius Syndrome (NFLS) malady

Skin diseases, Fetal diseases, Neuronal diseases categories

Summaries for Legius Syndrome

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Sources:
21Genetics Home Reference, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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Genetics Home Reference:21 Legius syndrome is a condition characterized by changes in skin coloring (pigmentation). Almost all affected individuals have multiple café-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.

MalaCards: Legius Syndrome, also known as neurofibromatosis type 1-like syndrome, is related to neurofibroma and neurofibromatosis. An important gene associated with Legius Syndrome is SPRED1 (sprouty-related, EVH1 domain containing 1), and among its related pathways are Signaling events mediated by Stem cell factor receptor (c-Kit) and Prostate Cancer. Affiliated tissues include skin, and related mouse phenotypes are respiratory system and craniofacial.

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

Description from OMIM:46 611431

GeneReviews summary for legius

Aliases & Classifications for Legius Syndrome

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19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 48Orphanet, 60UMLS, 35MESH via Orphanet, 61UMLS via Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Skin diseases, Neuronal diseases


Characteristics (Orphanet epidemiological data):

48
legius syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000


Aliases & Descriptions:

legius syndrome 19 42 20 22 21 46 48
neurofibromatosis type 1-like syndrome 19 21
neurofibromatosis, type 1-like syndrome 60
neurofibromatosis type 1 like syndrome 42
neurofibromatosis 1-like syndrome 48
neurofibromatosis 1 60
nf1-like syndrome 48
nfls 21


External Ids:

OMIM46 611431
MESH via Orphanet35 C548032
UMLS via Orphanet61 C1969623
ICD10 via Orphanet26 Q85.0

Related Diseases for Legius Syndrome

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Legius Syndrome:



Diseases related to legius syndrome

Clinical Features for Legius Syndrome

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46OMIM
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Clinical features from OMIM:

611431

Clinical synopsis from OMIM:

611431

Drugs & Therapeutics for Legius Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Legius Syndrome

Genetic Tests for Legius Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Legius Syndrome:

id Genetic test Affiliating Genes
1 Legius Syndrome20 22 SPRED1

Anatomical Context for Legius Syndrome

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32MalaCards
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MalaCards organs/tissues related to Legius Syndrome:

32
Skin

Animal Models for Legius Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Legius Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.9SPRED1, SPRY4, SPRY2, NF1
2MP:00053828.6NF1, SPRY2, SPRY4, SPRED1
3MP:00053718.3SPRED1, SPRED2, SPRY4, SPRY2, NF1

Publications for Legius Syndrome

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50PubMed
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Articles related to Legius Syndrome:

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

Genetic Variations for Legius Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Legius Syndrome:

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

Expression for genes affiliated with Legius Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Legius Syndrome

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Pathways for genes affiliated with Legius Syndrome

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37NCBI BioSystems Database, 51QIAGEN, 53Reactome, 29KEGG
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Pathways related to Legius Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.6SPRED1, SPRED2
29.5SPRY1, SPRY2
3
Hide members
9.5SPRY2, SPRY1
47.4SPRY1, SPRED1, SPRED2, SPRED3, SPRY4, SPRY2

Compounds for genes affiliated with Legius Syndrome

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GO Terms for genes affiliated with Legius Syndrome

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16Gene Ontology
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Cellular components related to Legius Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ruffle membraneGO:0325879.6SPRY4, SPRY2

Biological processes related to Legius Syndrome according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1regulation of protein deacetylationGO:0903119.8SPRED1, SPRED2
2negative regulation of Ras GTPase activityGO:0342619.7SPRY1, SPRY2
3negative regulation of neurotrophin TRK receptor signaling pathwayGO:0513879.7SPRY1, SPRY2
4positive regulation of DNA damage response, signal transduction by p53 class mediatorGO:0435179.6SPRED1, SPRED2
5negative regulation of fibroblast growth factor receptor signaling pathwayGO:0400379.6SPRY2, SPRY1
6negative regulation of epidermal growth factor receptor signaling pathwayGO:0420599.5SPRY1, SPRY2
7negative regulation of peptidyl-threonine phosphorylationGO:0108019.5SPRED1, SPRED2, SPRY2
8negative regulation of ERK1 and ERK2 cascadeGO:0703739.4SPRY1, SPRY2
9negative regulation of Ras protein signal transductionGO:0465809.4NF1, SPRY2, SPRY1
10metanephros developmentGO:0016569.3SPRY1, NF1
11inactivation of MAPK activityGO:0001889.0SPRED1, SPRED2, SPRED3
12negative regulation of MAP kinase activityGO:0434079.0SPRY1, SPRY4, SPRY2, NF1
13multicellular organismal developmentGO:0072758.2SPRY4, SPRED3, SPRED2, SPRED1, SPRY3

Molecular functions related to Legius Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1stem cell factor receptor bindingGO:0051739.3SPRED1, SPRED2
2protein kinase bindingGO:0199019.2SPRED1, SPRED2, SPRY2
3protein serine/threonine kinase inhibitor activityGO:0302919.1SPRED1, SPRED2, SPRY2

Products for genes affiliated with Legius Syndrome

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Sources for Legius Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet