MCID: LGS001
MIFTS: 42

Legius Syndrome malady

Categories: Genetic diseases, Rare diseases, Skin diseases, Fetal diseases, Neuronal diseases

Aliases & Classifications for Legius Syndrome

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Sources:
49OMIM, 11diseasecard, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 51Orphanet, 67UniProtKB/Swiss-Prot, 24GTR, 65UMLS, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet, 34MedGen, 36MeSH, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Legius Syndrome:

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

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

HPO:

61
legius syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 611431
Orphanet51 137605
UMLS via Orphanet66 C1969623
ICD10 via Orphanet28 Q85.0
MESH via Orphanet37 C548032
MedGen34 C1969623
MeSH36 D019080
UMLS65 C1969623

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 neurofibromatosis type 1-like syndrome, is related to neurofibromatosis, type 1 and medulloblastoma, and has symptoms including abnormality of the sternum, high palate and macrocephaly. An important gene associated with Legius Syndrome is SPRED1 (Sprouty Related EVH1 Domain Containing 1), and among its related pathways is Signaling by PTK6. Affiliated tissues include skin, spinal cord and heart, and related mouse phenotype limbs/digits/tail.

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 NBK47312

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 19)
id Description Frequency HPO Source Accession
1 abnormality of the sternum rare (5%) HP:0000766
2 high palate HP:0000218
3 macrocephaly HP:0000256
4 epicanthus HP:0000286
5 hypertelorism HP:0000316
6 triangular face HP:0000325
7 micrognathia HP:0000347
8 low-set, posteriorly rotated ears HP:0000368
9 short neck HP:0000470
10 downslanted palpebral fissures HP:0000494
11 ptosis HP:0000508
12 cafe-au-lait spot HP:0000957
13 axillary freckling HP:0000997
14 multiple lipomas HP:0001012
15 neurofibromas HP:0001067
16 muscular hypotonia HP:0001252
17 specific learning disability HP:0001328
18 low posterior hairline HP:0002162
19 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):

(show all 11)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
ChlorhexidineapprovedPhase 2, Phase 339255-56-19552079, 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
2
Lamotrigineapproved, investigationalPhase 2, Phase 317984057-84-13878
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
3Excitatory Amino AcidsPhase 2, Phase 31109
4Neurotransmitter AgentsPhase 2, Phase 314795
5Sodium Channel BlockersPhase 2, Phase 31180
6Excitatory Amino Acid AntagonistsPhase 2, Phase 31095
7Diuretics, Potassium SparingPhase 2, Phase 31445
8calcium channel blockersPhase 2, Phase 31743
9Calcium, DietaryPhase 2, Phase 34678
10Chlorhexidine gluconatePhase 2, Phase 3392
11AnticonvulsantsPhase 2, Phase 32249

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 SPRED1

Anatomical Context for Legius Syndrome

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MalaCards organs/tissues related to Legius Syndrome:

33
Skin, Spinal cord, Heart, Skeletal muscle, Lung, Breast

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:00053719.1NF1, SPRED1

Publications for Legius Syndrome

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Articles related to Legius Syndrome:

(show all 19)
idTitleAuthorsYear
1
BK virus-associated urinary bladder carcinoma in transplant recipients: productive or nonproductive polyomavirus infections in tumor cells? (24262020)
2013
2
Insulin growth factors may explain relationship between spasticity and skeletal muscle size in men with spinal cord injury. (22773197)
2012
3
Stumbling blocks on the path to personalized medicine in breast cancer: the case of PARP inhibitors for BRCA1/2-associated cancers. (22586318)
2011
4
Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs. (20195266)
2011
5
Occupational contact urticaria caused by cyclic acid anhydrides. (19338590)
2009
6
Experience in the treatment of cutaneous in-transit melanoma metastases and satellitosis with intralesional interleukin-2]. (19715642)
2009
7
Nucleolin regulates c-Jun/Sp1-dependent transcriptional activation of cPLA2alpha in phorbol ester-treated non-small cell lung cancer A549 cells. (18025046)
2008
8
Reversal of IFN-gamma, oxLDL and prolactin serum levels correlate with clinical improvement in patients with peripartum cardiomyopathy. (18768352)
2008
9
Role of beta adrenergic receptor polymorphisms in heart failure: systematic review and meta-analysis. (18158268)
2008
10
Involvement of TL1A and DR3 in induction of pro-inflammatory cytokines and matrix metalloproteinase-9 in atherogenesis. (15760679)
2005
11
Lactococcus lactis as host for overproduction of functional membrane proteins. (12586384)
2003
12
Anticoagulant and antiprotease profiles of a novel natural heparinomimetic mannopentaose phosphate sulfate (PI-88). (11292191)
2001
13
Lumbar erector spinae oxygenation during prolonged contractions: implications for prolonged work. (10801082)
2000
14
Assembly and secretion of chylomicrons by differentiated Caco-2 cells. Nascent triglycerides and preformed phospholipids are preferentially used for lipoprotein assembly. (10391890)
1999
15
Ristocetin- and thrombin-induced platelet aggregation at physiological shear rates: differential roles for GPIb and GPIIb-IIIa receptor. (9759623)
1998
16
Modulation by neurotransmitters of catecholamine secretion from sympathetic ganglion neurons detected by amperometry. (9037083)
1997
17
Dopamine and circadian rhythms in seasonal affective disorder. (8898318)
1996
18
Facioscapulohumeral muscular dystrophy and recurrent pacemaker lead dislodgement. (1927871)
1991
19
Molecular characterization of the human beta 3-adrenergic receptor. (2570461)
1989

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
9SPRED1NM_152594.2(SPRED1): c.796_797delATdeletionPathogenicrs864622410GRCh37Chr 15, 38643326: 38643327
10SPRED1SPRED1, 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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GO Terms for genes affiliated with Legius Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor receptor signaling pathwayGO:00085439.5NF1, SPRED1
2MAPK cascadeGO:00001659.4NF1, SPRED1
3insulin receptor signaling pathwayGO:00082869.4NF1, SPRED1
4innate immune responseGO:00450879.1NF1, SPRED1
5neurotrophin TRK receptor signaling pathwayGO:00480118.8NF1, SPRED1

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