NFLS
MCID: LGS001
MIFTS: 38

Legius Syndrome (NFLS) malady

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

Summaries for Legius Syndrome

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Sources:
22Genetics Home Reference, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
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Genetics Home Reference:22 Legius syndrome is a condition characterized by changes in skin coloring (pigmentation). Almost all affected individuals have multiple cafƩ-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 neurofibromatosis and lateral sclerosis. An important gene associated with Legius Syndrome is SPRED1 (sprouty-related, EVH1 domain containing 1). Affiliated tissues include skin.

Wikipedia:66 Legius syndrome (LS) is an autosomal dominant condition characterized by cafe au lait spots. It was... more...

Description from OMIM:48 611431

GeneReviews summary for legius

Aliases & Classifications for Legius Syndrome

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Sources:
20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 50Orphanet, 63UMLS, 37MESH via Orphanet, 64UMLS via Orphanet, 27ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
legius syndrome:
Inheritance: Autosomal dominant; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

legius syndrome 20 44 21 23 22 48 50
neurofibromatosis type 1-like syndrome 20 22
neurofibromatosis, type 1-like syndrome 63
neurofibromatosis type 1 like syndrome 44
neurofibromatosis 1-like syndrome 50
neurofibromatosis 1 63
nf1-like syndrome 50
nfls 22


External Ids:

OMIM48 611431
MESH via Orphanet37 C548032
UMLS via Orphanet64 C1969623
ICD10 via Orphanet27 Q85.0

Related Diseases for Legius Syndrome

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18GeneCards, 19GeneDecks
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Diseases related to Legius Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 14)
idRelated DiseaseScoreTop Affiliating Genes
1neurofibromatosis10.4
2lateral sclerosis10.2
3amyotrophic lateral sclerosis10.2
4neuronitis10.1
5piebaldism10.1
6normal pressure hydrocephalus10.0
7charcot-marie-tooth disease10.0
8craniopharyngioma10.0
9hydrocephalus10.0
10retinitis10.0
11tooth disease10.0
12subcortical arteriosclerotic encephalopathy10.0
13lumbar disc herniation10.0
14hiv-110.0

Graphical network of diseases related to Legius Syndrome:



Diseases related to legius syndrome

Symptoms for Legius Syndrome

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48OMIM
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Symptoms by clinical synopsis from OMIM:

611431

Clinical features from OMIM:

611431

Drugs & Therapeutics for Legius Syndrome

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Legius Syndrome

Search CenterWatch for Legius Syndrome

Genetic Tests for Legius Syndrome

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21GeneTests, 23GTR
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Genetic tests related to Legius Syndrome:

id Genetic test Affiliating Genes
1 Legius Syndrome21 23 SPRED1

Anatomical Context for Legius Syndrome

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34MalaCards
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MalaCards organs/tissues related to Legius Syndrome:

34
Skin

Animal Models for Legius Syndrome or affiliated genes

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Publications for Legius Syndrome

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53PubMed
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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

Variations for Legius Syndrome

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Legius Syndrome:

65
id Symbol AA change Variation ID SNP ID
1SPRED1p.Trp31CysVAR_064827
2SPRED1p.Val44AspVAR_064828

Clinvar genetic disease variations for Legius Syndrome:

1 (show all 35)
id Gene Name 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
10NF1NM_000267.3(NF1): c.5795T> C (p.Leu1932Pro)single nucleotide variantPathogenicrs199474792GRCh37Chr 17, 29661901: 29661901
11NF1NM_000267.3(NF1): c.5845A> T (p.Arg1949Ter)single nucleotide variantPathogenicrs267606595GRCh37Chr 17, 29661951: 29661951
12NF1NM_000267.3(NF1): c.4267A> G (p.Lys1423Glu)single nucleotide variantPathogenicrs137854550GRCh37Chr 17, 29585518: 29585518
13NF1NM_000267.3(NF1): c.5448dupC (p.Ser1817Leufs)duplicationPathogenicrs267606596GRCh37Chr 17, 29654759: 29654760
14NF1NM_000267.3(NF1): c.5465_5466insT (p.Lys1823Glnfs)insertionPathogenicrs267606597GRCh37Chr 17, 29654776: 29654777
15NF1NM_000267.3(NF1): c.6427C> A (p.Leu2143Met)single nucleotide variantPathogenicrs137854551GRCh37Chr 17, 29664448: 29664448
16NF1NM_000267.3(NF1): c.6511T> A (p.Tyr2171Asn)single nucleotide variantPathogenicrs267606598GRCh37Chr 17, 29664532: 29664532
17NF1NM_000267.3(NF1): c.5839C> T (p.Arg1947Ter)single nucleotide variantPathogenicrs137854552GRCh37Chr 17, 29661945: 29661945
18NF1NM_000267.3(NF1): c.4084C> T (p.Arg1362Ter)single nucleotide variantPathogenicrs137854560GRCh37Chr 17, 29576111: 29576111
19NF1NM_000267.3(NF1): c.3113+1G> Asingle nucleotide variantPathogenicrs267606599GRCh37Chr 17, 29557401: 29557401
20NF1NM_000267.3(NF1): c.1541_1542delAG (p.Gln514Argfs)deletionPathogenicrs267606600GRCh37Chr 17, 29546036: 29546037
21NF1NM_000267.3(NF1): c.3104T> G (p.Met1035Arg)single nucleotide variantPathogenicrs137854553GRCh37Chr 17, 29557391: 29557391
22NF1NM_000267.3(NF1): c.4173A> T (p.Arg1391Ser)single nucleotide variantPathogenicrs137854554GRCh37Chr 17, 29585424: 29585424
23NF1NM_000267.3(NF1): c.3827G> C (p.Arg1276Pro)single nucleotide variantPathogenicrs137854556GRCh37Chr 17, 29562747: 29562747
24NF1NM_000267.3(NF1): c.1466A> G (p.Tyr489Cys)single nucleotide variantPathogenicrs137854557GRCh37Chr 17, 29541542: 29541542
25NF1NM_000267.3(NF1): c.1523T> C (p.Leu508Pro)single nucleotide variantPathogenicrs137854558GRCh37Chr 17, 29541599: 29541599
26NF1NM_000267.3(NF1): c.1260+1G> Asingle nucleotide variantPathogenicrs267606603GRCh37Chr 17, 29528504: 29528504
27NF1NM_000267.3(NF1): c.4021C> T (p.Gln1341Ter)single nucleotide variantPathogenicrs137854559GRCh37Chr 17, 29576048: 29576048
28NF1NM_000267.3(NF1): c.5944-5A> Gsingle nucleotide variantPathogenicrs267606604GRCh37Chr 17, 29663346: 29663346
29NF1NM_000267.3(NF1): c.3721C> T (p.Arg1241Ter)single nucleotide variantPathogenicrs137854562GRCh37Chr 17, 29562641: 29562641
30NF1NM_000267.3(NF1): c.5406dupT (p.Ile1803Tyrfs)duplicationPathogenicrs267606605GRCh37Chr 17, 29654717: 29654718
31NF1NM_000267.3(NF1): c.1070T> C (p.Leu357Pro)single nucleotide variantPathogenicrs137854563GRCh37Chr 17, 29528062: 29528062
32NF1NM_000267.3(NF1): c.3728T> C (p.Leu1243Pro)single nucleotide variantPathogenicrs137854564GRCh37Chr 17, 29562648: 29562648
33NF1NM_000267.3(NF1): c.5710G> T (p.Glu1904Ter)single nucleotide variantPathogenicrs137854565GRCh37Chr 17, 29657477: 29657477
34NF1NM_000267.3(NF1): c.2531T> G (p.Leu844Arg)single nucleotide variantPathogenicrs137854566GRCh37Chr 17, 29556164: 29556164
35NF1NM_000267.3(NF1): c.574C> T (p.Arg192Ter)single nucleotide variantPathogenicrs397514641GRCh37Chr 17, 29497003: 29497003

Expression for genes affiliated with Legius Syndrome

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2BioGPS, 16Gene 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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Compounds for genes affiliated with Legius Syndrome

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GO Terms for genes affiliated with Legius Syndrome

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Products for genes affiliated with Legius Syndrome

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  • Antibodies
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  • Lysates
  • Antibodies

Sources for Legius Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet