MCID: LGS001
MIFTS: 47

Legius Syndrome malady

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

Aliases & Classifications for Legius Syndrome

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Sources:
49OMIM, 11diseasecard, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 51Orphanet, 24GTR, 67UniProtKB/Swiss-Prot, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH
See all sources

Aliases & Descriptions for Legius Syndrome:

Name: Legius Syndrome 49 11 21 45 22 23 51 24 67
Nfls 22 23 67
Neurofibromatosis Type 1-Like Syndrome 21 23
Neurofibromatosis Type 1 Like Syndrome 45 22
 
Neurofibromatosis 1-Like Syndrome 51 67
Neurofibromatosis, Type 1-Like Syndrome 65
Nf1-Like Syndrome 51


Classifications:



Characteristics (Orphanet epidemiological data):

51
legius syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Worldwide); Age of onset: Childhood,Infancy,Neonatal; Age of death: normal life expectancy


External Ids:

OMIM49 611431
Orphanet51 137605
ICD10 via Orphanet28 Q85.0
MESH via Orphanet37 C548032
UMLS via Orphanet66 C1969623
MedGen34 C1969623
MeSH36 D019080

Summaries for Legius Syndrome

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OMIM:49 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 nfls, 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 is EGFR downregulation. Affiliated tissues include skin, and related mouse phenotypes are craniofacial and respiratory system.

Genetics Home Reference:23 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.

UniProtKB/Swiss-Prot:67 Neurofibromatosis 1-like syndrome: A disorder characterized mainly by cafe au lait macules without neurofibromas or other tumor manifestations of neurofibromatosis type 1, axillary freckling, and macrocephaly. Additional clinical manifestations include Noonan-like facial dysmorphism, lipomas, learning disabilities and attention deficit-hyperactivity.

Wikipedia:68 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

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Graphical network of the top 20 diseases related to Legius Syndrome:



Diseases related to legius syndrome

Symptoms for Legius Syndrome

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Symptoms by clinical synopsis from OMIM:

611431

Clinical features from OMIM:

611431

HPO human phenotypes related to Legius Syndrome:

(show all 20)
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 muscular hypotonia HP:0001252
18 specific learning disability HP:0001328
19 low posterior hairline HP:0002162
20 attention deficit hyperactivity disorder HP:0007018

Drugs & Therapeutics for Legius Syndrome

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Drugs for Legius Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Lamotrigineapproved, investigationalPhase 2, Phase 317484057-84-13878
Synonyms:
3,5-Diamino-6-(2,3-dichlorophenyl)-1,2,4-triazine
3,5-Diamino-6-(2,3-dichlorophenyl)-as-triazine
3,5-diamino-6-(2,3-dichlorophenyl)- as -triazine
6-(2,3-Dichlorophenyl)-1,2,4-triazine-3,5-diyldiamine
6-(2,3-dichlorophenyl)-1,2,4-triazine-3,5-diamine
84057-84-1
AC-10298
AC1L1GWT
BIDD:GT0794
BW 430C
BW-430C
Bio-0056
C047781
CHEBI:138727
CHEBI:6367
CHEMBL741
CID3878
CPD000058464
Crisomet
D00354
DB00555
Desitin Brand of Lamotrigine
EINECS 281-901-8
EU-0100688
EUR-1048
Faes Brand of Lamotrigine
GI 267119X
GW 273293
Glaxo Wellcome Brand of Lamotrigine
GlaxoSmithKline Brand of Lamotrigine
HMS2051C10
HMS2089M08
HMS2093P21
HSDB 7526
Juste Brand of Lamotrigine
L 3791
L3791_SIGMA
LS-155249
 
Labileno
Lamictal
Lamictal (TN)
Lamictal CD
Lamictal Cd
Lamictal ODT
Lamictal XR
Lamictin
Lamiktal
Lamitor
Lamotrigina
Lamotrigina [Spanish]
Lamotrigine
Lamotrigine (JAN/USAN/INN)
Lamotrigine [USAN:INN:BAN]
Lamotriginum
Lamotriginum [Latin]
Lopac-L-3791
Lopac0_000688
MLS000069685
MLS000759486
MLS001077325
MolPort-003-666-744
NCGC00015605-01
NCGC00015605-02
NCGC00015605-06
NCGC00015605-08
NCGC00022936-02
NCGC00022936-04
NCGC00022936-05
NSC746307
SAM001246697
SMP2_000303
SMR000058464
STK628377
Tocris-1611
UNII-U3H27498KS
ZINC00013156
lamotrigine
2
ChlorhexidineapprovedPhase 2, Phase 336455-56-19552079, 2713
Synonyms:
1,1 inverted exclamation marka-Hexamethylenebis[5-(4-chlorophenyl)biguanide]
1,1'-Hexamethylene bis(5-(P-chlorophenyl)biguanide)
1,1'-Hexamethylene bis(5-(p-chlorophenyl)biguanide)
1,1'-Hexamethylenebis(5-(p-chlorophenyl)biguanide)
1,1'-Hexamethylenebis[5-(4-chlorophenyl)biguanide
1,6-Bis(5-(p-chlorophenyl)biguandino)hexane
1,6-Bis(p-chlorophenyldiguanido)hexane
1,6-Di(4'-chlorophenyldiguanido)hexane
1,6-Di(N-p-chlorophenyldiguanido)hexane
24798_FLUKA
282227_ALDRICH
348031_ALDRICH
4-12-00-01201 (Beilstein Handbook Reference)
55-56-1
AB00053427
AB1003159
AVAGARD
BPBio1_000272
BRN 2826432
BSPBio_000246
BSPBio_001977
Betasept
C06902
C22H30Cl2N10
CAS-55-56-1
CCRIS 9230
CHEBI:3614
CHEMBL790
CID9552079
Chlorhexidin
Chlorhexidin [Czech]
Chlorhexidine
Chlorhexidine (INN)
Chlorhexidine Base
Chlorhexidine Gluconate
Chlorhexidine [INN:BAN]
Chlorhexidine gluconate
Chlorhexidinum
Chlorhexidinum [INN-Latin]
Cloresidina
Cloresidina [DCIT]
Clorhexidina
Clorhexidina [INN-Spanish]
D07668
DB00878
Decanoylacetaldehyde Sodium Sulfide
Dentisept [veterinary]
Dentisept [veterinary] (TN)
DivK1c_000761
EINECS 200-238-7
Fimeil
HMS1568M08
HSDB 7196
Hexadol
Hibiclens
Hibispray
Hibistat
I06-0621
I14-0050
IDI1_000761
KBio1_000761
 
KBio2_000717
KBio2_003285
KBio2_005853
KBio3_001197
KBioGR_000774
KBioSS_000717
LS-43917
Lisium (*Dihydrochloride*)
MK-412A
MLS001332387
MLS001332388
MLS002154209
Merfen-incolore
Merfen-incolore (TN)
MolPort-002-541-741
N',N'''''-hexane-1,6-diylbis[N-(4-chlorophenyl)(imidodicarbonimidic diamide)]
N,N''''-hexane-1,6-diylbis[N'-(4-chlorophenyl)(imidodicarbonimidic diamide)]
N,N'-Bis(4-chlorophenyl)-3,12-diimino-2,4,11,13-tetraazatetradeca- nediimidamide
N,N'-Bis(4-chlorophenyl)-3,12-diimino-2,4,11,13-tetraazatetradecanediimidamide
N,N'-bis(4-chlorophenyl)-3,12-diimino-2,4,11,13-tetraazatetradecanediimidamide
NCGC00016246-01
NCGC00091025-01
NCGC00091025-02
NINDS_000761
NSC526936
Nolvasan
Nolvasan (*Diacetate*)
Novalsan
Oro-Clense
Paroex
Perichlor
Peridex
Periochip
Periogard
Prestwick0_000143
Prestwick1_000143
Prestwick2_000143
Prestwick3_000143
Prestwick_53
QTL1_000020
Rotersept
SMR000857146
SPBio_000210
SPBio_002185
STK089248
STOCK1S-18831
Savloclens
Savlon babycare
Sebidin A
Sodium Houttuyfonamide
Soretol
Spectrum2_000135
Spectrum3_000339
Spectrum4_000277
Spectrum5_001322
Spectrum_000237
Sterido
Sterilon
Superspray
Tubulicid
UNII-R4KO0DY52L
chlorhexidine
3Calcium, DietaryPhase 2, Phase 33529
4Chlorhexidine gluconatePhase 2, Phase 3364

Interventional clinical trials:

idNameStatusNCT IDPhase
1Effect of Lamotrigine on Cognition in NF1RecruitingNCT02256124Phase 2, Phase 3
2Study of Disease Severity in Adults With Neurofibromatosis Type 1 (NF1)Active, not recruitingNCT00111384
3Microarray CGH Analysis of Circulating Tumoral Plasma DNA in NF1 Patients With MPNSTsActive, not recruitingNCT01218152
4Analysis of Peripheral Nerve Sheath Tumors (PNSTs) in Neurofibromatosis Type 1 (NF1) PatientsActive, not recruitingNCT01218139

Search NIH Clinical Center for Legius Syndrome

Genetic Tests for Legius Syndrome

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Genetic tests related to Legius Syndrome:

id Genetic test Affiliating Genes
1 Legius Syndrome22 24 SPRED1

Anatomical Context for Legius Syndrome

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MalaCards organs/tissues related to Legius Syndrome:

33
Skin

Animal Models for Legius Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Legius Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.7NF1, SPRED1, SPRY2, SPRY4
2MP:00053888.5NF1, SPRED1, SPRY2, SPRY4
3MP:00053718.2NF1, SPRED1, SPRED2, SPRY2, SPRY4

Publications for Legius Syndrome

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Articles related to Legius Syndrome:

(show all 19)
idTitleAuthorsYear
1
Legius syndrome: case report and review of literature. (25883013)
2015
2
Family with Legius syndrome (neurofibromatosis type 1-like syndrome). (25981987)
2015
3
SPRED1, a RAS MAPK pathway inhibitor that causes Legius syndrome, is a tumour suppressor downregulated in paediatric acute myeloblastic leukaemia. (24469042)
2014
4
Legius Syndrome, an Update.Molecular Pathology of Mutations in SPRED1. (24334617)
2013
5
Review and update of SPRED1 mutations causing Legius syndrome. (22753041)
2012
6
A shared molecular mechanism underlies the human rasopathies Legius syndrome and Neurofibromatosis-1. (22751498)
2012
7
CafAc-au-lait macules and intertriginous freckling in piebaldism: clinical overlap with neurofibromatosis type 1 and Legius syndrome. (22438235)
2012
8
Legius syndrome in fourteen families. (21089071)
2011
9
Identification of five novel SPRED1 germline mutations in Legius syndrome. (21649642)
2011
10
The SPRED1 Variants Repository for Legius Syndrome. (22384355)
2011
11
Observations on intelligence and behavior in 15 patients with Legius syndrome. (21495177)
2011
12
Novel human pathological mutations. Gene symbol: SPRED1. Disease: Legius syndrome. (20108421)
2010
13
Novel human pathological mutations. Gene symbol: SPRED1. Disease: Legius syndrome. (20108385)
2010
14
Novel human pathological mutations. Gene symbol: SPRED1. Disease: Legius syndrome. (20108422)
2010
15
Novel human pathological mutations. Gene symbol: SPRED1. Disease: Legius syndrome. (20108386)
2010
16
Novel human pathological mutations. Gene symbol: SPRED1. Disease: Legius syndrome. (20108420)
2010
17
SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype. (19443465)
2009
18
Pigmentary findings in neurofibromatosis type 1-like syndrome (Legius syndrome): potential diagnostic dilemmas. (19920242)
2009
19
Legius Syndrome (20945555)
1993

Variations for Legius Syndrome

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

67
id Symbol AA change Variation ID SNP ID
1SPRED1p.Trp31CysVAR_064827
2SPRED1p.Val44AspVAR_064828

Clinvar genetic disease variations for Legius Syndrome:

5
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

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Search GEO for disease gene expression data for Legius Syndrome.

Pathways for genes affiliated with Legius Syndrome

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.2SPRY1, SPRY2

GO Terms for genes affiliated with Legius Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1ruffle membraneGO:00325879.5SPRY2, SPRY4
2membraneGO:00160206.4NF1, SPRED1, SPRED2, SPRED3, SPRY1, SPRY2

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

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of DNA damage response, signal transduction by p53 class mediatorGO:004351710.3SPRED1, SPRED2
2regulation of protein deacetylationGO:009031110.3SPRED1, SPRED2
3metanephros developmentGO:000165610.1NF1, SPRY1
4inactivation of MAPK activityGO:00001889.9SPRED1, SPRED2
5negative regulation of neurotrophin TRK receptor signaling pathwayGO:00513879.8SPRY1, SPRY2
6negative regulation of fibroblast growth factor receptor signaling pathwayGO:00400379.8SPRY1, SPRY2
7bud elongation involved in lung branchingGO:00604499.7SPRY1, SPRY2
8negative regulation of GTPase activityGO:00342609.7SPRY1, SPRY2
9negative regulation of epidermal growth factor receptor signaling pathwayGO:00420599.7SPRY1, SPRY2
10establishment of mitotic spindle orientationGO:00001329.7SPRY1, SPRY2
11negative regulation of peptidyl-threonine phosphorylationGO:00108019.4SPRED1, SPRED2, SPRY2
12negative regulation of cell proliferationGO:00082859.2NF1, SPRY1, SPRY2
13fibroblast growth factor receptor signaling pathwayGO:00085439.0NF1, SPRED1, SPRY2
14negative regulation of ERK1 and ERK2 cascadeGO:00703738.7SPRY1, SPRY2, SPRY4
15negative regulation of MAP kinase activityGO:00434078.6NF1, SPRY1, SPRY2, SPRY4
16negative regulation of Ras protein signal transductionGO:00465808.5NF1, SPRY1, SPRY2
17epidermal growth factor receptor signaling pathwayGO:00071738.5NF1, SPRED1, SPRY1, SPRY2
18regulation of signal transductionGO:00099667.2SPRED1, SPRED2, SPRED3, SPRY1, SPRY2, SPRY3
19multicellular organismal developmentGO:00072756.7SPRED1, SPRED2, SPRED3, SPRY1, SPRY2, SPRY3

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

idNameGO IDScoreTop Affiliating Genes
1stem cell factor receptor bindingGO:000517310.2SPRED1, SPRED2
2protein serine/threonine kinase inhibitor activityGO:00302919.4SPRED1, SPRED2, SPRY2
3protein kinase bindingGO:00199018.9SPRED1, SPRED2, SPRY2

Sources for Legius Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet