MCID: LGS001
MIFTS: 50

Legius Syndrome malady

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

Aliases & Classifications for Legius Syndrome

About this section
Sources:
50OMIM, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 37MeSH, 66UMLS, 67UMLS via Orphanet, 29ICD10 via Orphanet, 38MESH via Orphanet, 35MedGen, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Legius Syndrome:

Name: Legius Syndrome 50 22 46 23 24 52 68 25 12
Neurofibromatosis Type 1-Like Syndrome 22 23 24
Nfls 23 24 68
Neurofibromatosis 1-Like Syndrome 52 68
 
Neurofibromatosis, Type 1-Like Syndrome 66
Neurofibromatosis Type 1 Like Syndrome 46
Cafe-Au-Lait Spots 37
Nf1-Like Syndrome 52

Characteristics:

Orphanet epidemiological data:

52
legius syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Worldwide); Age of onset: Childhood,Infancy,Neonatal; Age of death: normal life expectancy

HPO:

62
legius syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 611431
Orphanet52 ORPHA137605
UMLS via Orphanet67 C1969623
ICD10 via Orphanet29 Q85.0
MESH via Orphanet38 C548032
MedGen35 C1969623
MeSH37 D019080

Summaries for Legius Syndrome

About this section
OMIM:50 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 cafe-au-lait spots, multiple and watson syndrome, 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 are MAP Kinase Signaling and EGFR downregulation. Affiliated tissues include skin, and related mouse phenotypes are craniofacial and respiratory system.

UniProtKB/Swiss-Prot:68 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.

Genetics Home Reference:24 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.

Wikipedia:69 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

About this section

Graphical network of the top 20 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 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

About this section

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

(show all 8)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1calcium channel blockersPhase 2, Phase 31889
2Chlorhexidine gluconatePhase 2, Phase 3448
3
LamotriginePhase 2, Phase 318284057-84-13878
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
4
ChlorhexidinePhase 2, Phase 344855-56-19552079, 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
C06902
C22H30Cl2N10
CAS-55-56-1
CCRIS 9230
CHEBI:3614
CHEMBL790
CID9552079
Chlorhexidin
Chlorhexidin [Czech]
Chlorhexidine
Chlorhexidine (INN)
Chlorhexidine Base
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
Peridex
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
5
LetrozolePhase 1368112809-51-53902
Synonyms:
1-[Bis-(4-cyanophenyl)methyl]-1,2,4-triazole
1-[bis(4-cyanophenyl)methyl]-1,2,4-triazole
112809-51-5
4,4'-((1h-1,2,4-triazol-1-yl)methylene)dibenzonitrile
4,4'-(1H-1,2,4-Triazol-1-ylmethylene)dibenzonitrile
4,4'-(1H-1,2,4-triazol-1-yl-methylene)-bis(benzonitrile)
4,4'-(1H-1,2,4-triazol-1-ylmethanediyl)dibenzonitrile
4,4'-(1H-1,2,4-triazol-1-ylmethylene)bis-Benzonitrile Letrozole
4,4'-(1h-1,2,4-triazol-1-ylmethylene) bis-benzonitrile
4,4'-(1h-1,2,4-triazol-1-ylmethylene)bis-benzonitrile
4,4'-(1h-1,2,4-triazol-1-ylmethylene)bisbenzonitrile
4-[(4-cyanophenyl)-(1,2,4-triazol-1-yl)methyl]benzonitrile
AB00514009
AC-1193
AC1L1GYT
AKOS005145822
BIDD:GT0015
BIDD:PXR0130
BPBio1_001331
BRD-K88789588-001-03-2
BSPBio_001209
Bio-0057
C067431
C08163
C17H11N5
CAS-112809-51-5
CCRIS 8822
CGS 20267
CGS 20267, Femara, Piroxicam, Letrozole
CGS-20267
CHEBI:6413
CHEMBL1444
CID3902
CPD000466343
D00964
 
DB01006
FEM-345
Femara
Femara (TN)
Femera
HMS1571M11
HMS2051E08
HMS2089L22
HSDB 7461
I06-0022
LS-38788
Letoval
Letrozol
Letrozole
Letrozole (JAN/USP/INN)
Letrozole [USAN:INN]
MLS000759455
MLS001424038
MLS002584991
MolPort-003-848-373
NCGC00016973-01
NCGC00016973-02
NSC719345
Novartis Brand of Letrozole
Prestwick0_001025
Prestwick1_001025
Prestwick2_001025
Prestwick3_001025
S1235_Selleck
SAM001246649
SMR000466343
SPBio_003070
TL8000371
UNII-7LKK855W8I
ZINC03778874
letrozole
6
LovastatinPhase 16075330-75-553232
Synonyms:
(1S,3R,7S,8S,8AR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-(2-(2R,4R)-(tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl)ethyl)-1-naphthalenyl (S)-2-methyl-butyrate
1cqp
2beta,6alpha-Dimethyl-8alpha-(2-methyl-1-oxobutoxy)-mevinic acid lactone
6 Methylcompactin
6 alpha-Methylcompactin
6-Methylcompactin
6-alpha-Methylcompactin
6-alpha-methylcompactin
6alpha-Methylcompactin
6α-methylcompactin
71949-96-7
74133-25-8
75330-75-5
81739-26-6
AC-13961
AC1L1EI6
AC1Q2C7T
ACon0_000534
ACon1_000390
ARONIS24208
Altocor
Altoprev
Artein
BB_NC-1457
BIDD:GT0749
BIDD:PXR0113
BPBio1_000519
BRD-K09416995-001-06-8
BRN 3631989
BSPBio_000471
BSPBio_001265
BSPBio_003346
Belvas
C07074
C24H36O5
CCRIS 8092
CHEBI:40303
CHEMBL503
CID53232
CPD-5561
CPD000673570
Cholestra
Closterol
Colevix
D00359
D008148
DB00227
DivK1c_001032
HMS1569H13
HMS1792O07
HMS1923O13
HMS1990O07
HMS2089M06
HMS2093O03
HMS503O05
HSDB 6534
Hipolip
Hipovastin
I06-1876
IDI1_001032
KBio1_001032
KBio3_002848
L-154803
L0214
LOVASTATIN
LS-46359
Lestatin
Lipdip
Lipivas
Lipofren
 
Liposcler
Lovalip
Lovalord
Lovastatin & Primycin
Lovastatin (USP/INN)
Lovastatin [USAN:BAN:INN]
Lovastatin, (1 alpha(S*))-Isomer
Lovastatin, 1 alpha-Isomer (without R*/S* notation)
Lovastatina
Lovastatina [Spanish]
Lovastatine
Lovastatine [French]
Lovastatinum
Lovastatinum [Latin]
Lovasterol
Lovastin
Lozutin
M2147_SIGMA
MEGxm0_000398
MK 803
MK-803
MK803
ML-530B
ML-530b
MLS000069585
MLS001055358
MSD 803
Mevacor
Mevacor (TN)
Mevinacor
Mevinolin
Mevinolin from Aspergillus sp.
Mevlor
MolPort-001-739-990
Monacolin K
Monacolin-K
Monakolin K
NCGC00023509-03
NCGC00023509-04
NCGC00023509-05
NCGC00023509-06
NCGC00023509-07
NCGC00023509-08
NINDS_001032
Nergadan
Paschol
Prestwick0_000516
Prestwick1_000516
Prestwick2_000516
Prestwick3_000516
Prestwick_819
Rextat
Rodatin
Rovacor
SAM002589963
SMR000058779
SMR000673570
SPBio_002392
SPECTRUM1503977
STK801953
Sivlor
Spectrum3_001873
Spectrum5_001294
Taucor
Tecnolip
Teroltrat
UNII-9LHU78OQFD
ZINC03812841
lovastatin
nchembio742-comp5
nchembio790-comp14
nchembio869-comp12
7
FludarabinePhase 1109221679-14-1, 75607-67-930751
Synonyms:
(2R,3S,4S,5R)-2-(6-amino-2-fluoro-9H-purin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol
(2R,3S,4S,5R)-2-(6-amino-2-fluoropurin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol
2-F-ARAA
2-F-ara-A
2-Fluoro Ara-A
2-Fluoro-9-beta-D-arabinofuranosyladenine
2-fluoro ARA-A
21679-14-1
9-beta-D-Arabinofuranosyl-2-fluoroadenine
9-beta-D-arabinofuranosyl-2-fluoro-9H-purin-6-amine
9H-Purin-6-amine, 9-beta-D-arabinofuranosyl-2-fluoro- (9CI)
AC1LCW8I
AC1Q51CF
C10H12FN5O4
CCRIS 3382
CHEMBL1568
CID657237
CPD000058874
D07966
EINECS 244-525-5
F-Ara-A
FAMP
FT-0082766
FaraA
Fludara
Fludara, Fludarabine
 
Fludarabina
Fludarabina [Spanish]
Fludarabine
Fludarabine (INN)
Fludarabine 5'-monophosphate
Fludarabine [INN]
Fludarabine monophosphate
Fludarabine phosphate
Fludarabinum
Fludarabinum [Latin]
Fludura
Fluradosa
Fluradosa (TN)
HSDB 6964
I14-4978
LS-15061
MLS000028687
NSC 118218
NSC 118218H
NSC-118218
S1491_Selleck
SAM002548956
SMR000058874
SQ Fludarabine
UNII-1X9VK9O1SC
UNII-P2K93U8740
ZINC04216238
8
alemtuzumabPhase 1303216503-57-0
Synonyms:
Campath
 
MabCampath
alemtuzumab

Interventional clinical trials:

(show all 11)
idNameStatusNCT IDPhase
1Effect of Lamotrigine on Cognition in NF1RecruitingNCT02256124Phase 2, Phase 3
2Trial to Evaluate the Safety of Lovastatin in Individuals With Neurofibromatosis Type I (NF1)CompletedNCT00352599Phase 1
3Effects of Letrozole on Precocious Puberty Due to McCune Albright SyndromeCompletedNCT00006174Phase 1
4Use of Rft5-Dga to Deplete Alloreactive Cells for Pts With Fanconi Anemia After Haploidentical SCTTerminatedNCT00586274Phase 1
5Genetic Evaluation of NF1 and Scoliosis PatientsCompletedNCT01776125
6Natural History Study of Patients With Neurofibromatosis Type IRecruitingNCT00924196
7Study of Disease Severity in Adults With Neurofibromatosis Type 1 (NF1)Active, not recruitingNCT00111384
8Microarray CGH Analysis of Circulating Tumoral Plasma DNA in NF1 Patients With MPNSTsActive, not recruitingNCT01218152
9Analysis of Peripheral Nerve Sheath Tumors (PNSTs) in Neurofibromatosis Type 1 (NF1) PatientsActive, not recruitingNCT01218139
10Genetic Disease Gene IdentificationEnrolling by invitationNCT00916903
11Selumetinib in Treating Patients With Neurofibromatosis Type 1 and Dermal NeurofibromaNot yet recruitingNCT02839720

Search NIH Clinical Center for Legius Syndrome


Cochrane evidence based reviews: cafe-au-lait spots

Genetic Tests for Legius Syndrome

About this section

Genetic tests related to Legius Syndrome:

id Genetic test Affiliating Genes
1 Legius Syndrome25 23 SPRED1

Anatomical Context for Legius Syndrome

About this section

MalaCards organs/tissues related to Legius Syndrome:

34
Skin

Animal Models for Legius Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Legius Syndrome:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.6NF1, SPRED1, SPRY2, SPRY4
2MP:00053888.3NF1, SPRED1, SPRY2, SPRY4
3MP:00053718.0NF1, SPRED1, SPRED2, SPRY2, SPRY4

Publications for Legius Syndrome

About this section

Articles related to Legius Syndrome:

(show all 21)
idTitleAuthorsYear
1
Interaction between a Domain of the Negative Regulator of the Ras-ERK Pathway, SPRED1 Protein, and the GTPase-activating Protein-related Domain of Neurofibromin Is Implicated in Legius Syndrome and Neurofibromatosis Type 1. (26635368)
2016
2
Family with Legius syndrome (neurofibromatosis type 1-like syndrome). (25981987)
2015
3
Legius syndrome: case report and review of literature. (25883013)
2015
4
Legius Syndrome: two novel mutations in the SPRED1 gene. (27081556)
2015
5
SPRED1, a RAS MAPK pathway inhibitor that causes Legius syndrome, is a tumour suppressor downregulated in paediatric acute myeloblastic leukaemia. (24469042)
2014
6
Legius Syndrome, an Update.Molecular Pathology of Mutations in SPRED1. (24334617)
2013
7
Review and update of SPRED1 mutations causing Legius syndrome. (22753041)
2012
8
A shared molecular mechanism underlies the human rasopathies Legius syndrome and Neurofibromatosis-1. (22751498)
2012
9
CafAc-au-lait macules and intertriginous freckling in piebaldism: clinical overlap with neurofibromatosis type 1 and Legius syndrome. (22438235)
2012
10
Legius syndrome in fourteen families. (21089071)
2011
11
Identification of five novel SPRED1 germline mutations in Legius syndrome. (21649642)
2011
12
The SPRED1 Variants Repository for Legius Syndrome. (22384355)
2011
13
Observations on intelligence and behavior in 15 patients with Legius syndrome. (21495177)
2011
14
Novel human pathological mutations. Gene symbol: SPRED1. Disease: Legius syndrome. (20108421)
2010
15
Novel human pathological mutations. Gene symbol: SPRED1. Disease: Legius syndrome. (20108385)
2010
16
Novel human pathological mutations. Gene symbol: SPRED1. Disease: Legius syndrome. (20108386)
2010
17
Novel human pathological mutations. Gene symbol: SPRED1. Disease: Legius syndrome. (20108420)
2010
18
Novel human pathological mutations. Gene symbol: SPRED1. Disease: Legius syndrome. (20108422)
2010
19
SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype. (19443465)
2009
20
Pigmentary findings in neurofibromatosis type 1-like syndrome (Legius syndrome): potential diagnostic dilemmas. (19920242)
2009
21
Legius Syndrome (20945555)
1993

Variations for Legius Syndrome

About this section

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

68
id Symbol AA change Variation ID SNP ID
1SPRED1p.Trp31CysVAR_064827
2SPRED1p.Val44AspVAR_064828rs121434318

Clinvar genetic disease variations for Legius Syndrome:

5 (show all 11)
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_797delAT (p.Met266Valfs)deletionPathogenicrs864622410GRCh37Chr 15, 38643326: 38643327
10SPRED1NM_152594.2(SPRED1): c.1151_1152delAG (p.Glu384Glyfs)deletionPathogenicrs878855228GRCh37Chr 15, 38643681: 38643682
11SPRED1SPRED1, 2-BP DEL, 1045AGdeletionPathogenic

Copy number variations for Legius Syndrome from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
191538153140000037900000Copy numberSPRED1Legius syndrome

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

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:00325879.1SPRY2, SPRY4

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

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1regulation of protein deacetylationGO:009031110.3SPRED1, SPRED2
2inactivation of MAPK activityGO:000018810.3SPRED1, SPRED2
3fibroblast growth factor receptor signaling pathwayGO:000854310.2SPRED1, SPRED2
4positive regulation of DNA damage response, signal transduction by p53 class mediatorGO:004351710.1SPRED1, SPRED2
5metanephros developmentGO:000165610.1NF1, SPRY1
6negative regulation of neurotrophin TRK receptor signaling pathwayGO:00513879.9SPRY1, SPRY2
7negative regulation of fibroblast growth factor receptor signaling pathwayGO:00400379.8SPRY1, SPRY2
8bud elongation involved in lung branchingGO:00604499.8SPRY1, SPRY2
9regulation of signal transductionGO:00099669.7SPRED3, SPRY3
10establishment of mitotic spindle orientationGO:00001329.7SPRY1, SPRY2
11negative regulation of epidermal growth factor receptor signaling pathwayGO:00420599.7SPRY1, SPRY2
12negative regulation of GTPase activityGO:00342609.6SPRY1, SPRY2
13negative regulation of Ras protein signal transductionGO:00465809.3NF1, SPRY1, SPRY2
14negative regulation of peptidyl-threonine phosphorylationGO:00108019.2SPRED1, SPRED2, SPRY2
15negative regulation of ERK1 and ERK2 cascadeGO:00703738.9SPRY1, SPRY2, SPRY4
16negative regulation of MAP kinase activityGO:00434078.8NF1, SPRY1, SPRY2, SPRY4
17negative regulation of cell proliferationGO:00082858.5NF1, SPRY1, SPRY2
18multicellular organism developmentGO:00072758.1SPRED1, SPRED2, SPRED3, SPRY3, SPRY4

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

idNameGO IDScoreTop Affiliating Genes
1stem cell factor receptor bindingGO:000517310.3SPRED1, SPRED2
2protein serine/threonine kinase inhibitor activityGO:00302919.2SPRED1, SPRED2, SPRY2
3protein kinase bindingGO:00199018.9SPRED1, SPRED2, SPRY2

Sources for Legius Syndrome

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet