MCID: LPR012
MIFTS: 46

Leopard Syndrome 1 malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Ear diseases, Skin diseases, Fetal diseases, Reproductive diseases, Cardiovascular diseases categories

Summaries for Leopard Syndrome 1

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OMIM:45 LEOPARD is an acronym for the manifestations of this syndrome as listed by Gorlin et al. (1969): multiple lentigines,... (151100) more...

MalaCards based summary: Leopard Syndrome 1, also known as leopard syndrome, is related to cardiofaciocutaneous syndrome and costello syndrome, and has symptoms including pulmonic stenosis, hypertrophic cardiomyopathy and autosomal dominant inheritance. An important gene associated with Leopard Syndrome 1 is PTPN11 (protein tyrosine phosphatase, non-receptor type 11), and among its related pathways are mTOR signaling pathway and TSH signaling pathway. The compounds sb 590885 and gw 5074 have been mentioned in the context of this disorder. Affiliated tissues include ovary, and related mouse phenotypes are tumorigenesis and craniofacial.

Aliases & Classifications for Leopard Syndrome 1

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Leopard Syndrome 1, Aliases & Descriptions:

Name: Leopard Syndrome 1 45 10 22
 
Leopard Syndrome 60


Classifications:



External Ids:

OMIM45 151100

Related Diseases for Leopard Syndrome 1

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Graphical network of diseases related to Leopard Syndrome 1:



Diseases related to leopard syndrome 1

Symptoms for Leopard Syndrome 1

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Symptoms by clinical synopsis from OMIM:

151100

Clinical features from OMIM:

151100

HPO human phenotypes related to Leopard Syndrome 1:

(show all 41)
id Description Frequency HPO Source Accession
1 pulmonic stenosis 40% HP:0001642
2 hypertrophic cardiomyopathy 20% HP:0001639
3 autosomal dominant inheritance HP:0000006
4 cryptorchidism HP:0000028
5 hypospadias HP:0000047
6 micropenis HP:0000054
7 unilateral renal agenesis HP:0000122
8 cleft palate HP:0000175
9 parietal bossing HP:0000242
10 epicanthus HP:0000286
11 mandibular prognathia HP:0000303
12 hypertelorism HP:0000316
13 triangular face HP:0000325
14 posteriorly rotated ears HP:0000358
15 low-set ears HP:0000369
16 sensorineural hearing impairment HP:0000407
17 protruding ear HP:0000411
18 depressed nasal ridge HP:0000457
19 webbed neck HP:0000465
20 short neck HP:0000470
21 strabismus HP:0000486
22 ptosis HP:0000508
23 pectus excavatum HP:0000767
24 pectus carinatum HP:0000768
25 delayed puberty HP:0000823
26 missing ribs HP:0000921
27 cafe-au-lait spot HP:0000957
28 intellectual disability, mild HP:0001256
29 subaortic stenosis HP:0001682
30 third degree atrioventricular block HP:0001709
31 kyphoscoliosis HP:0002751
32 cubitus valgus HP:0002967
33 limited elbow movement HP:0002996
34 spina bifida occulta HP:0003298
35 scapular winging HP:0003691
36 short stature HP:0004322
37 hyposmia HP:0004409
38 hypoplasia of the ovary HP:0008724
39 aplasia of the ovary HP:0010463
40 bundle branch block HP:0011710
41 delayed menarche HP:0012569

Drugs & Therapeutics for Leopard Syndrome 1

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Drug clinical trials:

Search ClinicalTrials for Leopard Syndrome 1

Search NIH Clinical Center for Leopard Syndrome 1

Genetic Tests for Leopard Syndrome 1

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Genetic tests related to Leopard Syndrome 1:

id Genetic test Affiliating Genes
1 Leopard Syndrome 122

Anatomical Context for Leopard Syndrome 1

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MalaCards organs/tissues related to Leopard Syndrome 1:

31
Ovary

Animal Models for Leopard Syndrome 1 or affiliated genes

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MGI Mouse Phenotypes related to Leopard Syndrome 1:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.6RAF1, BRAF, PTPN11
2MP:00053828.6PTPN11, BRAF, RAF1
3MP:00053708.5RAF1, BRAF, PTPN11
4MP:00053698.5RAF1, BRAF, PTPN11
5MP:00053888.4PTPN11, BRAF, RAF1
6MP:00053918.2RAF1, BRAF, PTPN11

Publications for Leopard Syndrome 1

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Variations for Leopard Syndrome 1

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UniProtKB/Swiss-Prot genetic disease variations for Leopard Syndrome 1:

62
id Symbol AA change Variation ID SNP ID
1PTPN11p.Tyr279CysVAR_015614
2PTPN11p.Thr472MetVAR_015621
3PTPN11p.Tyr279SerVAR_027188
4PTPN11p.Ala465ThrVAR_027190
5PTPN11p.Gly468AlaVAR_027191
6PTPN11p.Arg502LeuVAR_027192
7PTPN11p.Arg502TrpVAR_027193
8PTPN11p.Gln510ProVAR_027194
9PTPN11p.Gln514ProVAR_027196

Clinvar genetic disease variations for Leopard Syndrome 1:

6 (show all 17)
id Gene Variation Type Significance SNP ID Assembly Location
1PTPN11NM_002834.3(PTPN11): c.836A> G (p.Tyr279Cys)single nucleotide variantPathogenicrs121918456GRCh37Chr 12, 112910827: 112910827
2PTPN11NM_002834.3(PTPN11): c.1403C> T (p.Thr468Met)single nucleotide variantPathogenicrs121918457GRCh37Chr 12, 112926270: 112926270
3PTPN11NM_002834.3(PTPN11): c.1381G> A (p.Ala461Thr)single nucleotide variantPathogenicrs121918468GRCh37Chr 12, 112926248: 112926248
4PTPN11NM_002834.3(PTPN11): c.1391G> C (p.Gly464Ala)single nucleotide variantPathogenicrs121918469GRCh37Chr 12, 112926258: 112926258
5PTPN11NM_002834.3(PTPN11): c.1529A> C (p.Gln510Pro)single nucleotide variantPathogenicrs121918470GRCh37Chr 12, 112926909: 112926909
6RAF1NM_002880.3(RAF1): c.770C> T (p.Ser257Leu)single nucleotide variantPathogenicrs80338796GRCh37Chr 3, 12645699: 12645699
7RAF1NM_002880.3(RAF1): c.1837C> G (p.Leu613Val)single nucleotide variantPathogenicrs80338797GRCh37Chr 3, 12626123: 12626123
8RAF1NM_002880.3(RAF1): c.1456G> A (p.Asp486Asn)single nucleotide variantPathogenicrs80338798GRCh37Chr 3, 12627260: 12627260
9RAF1NM_002880.3(RAF1): c.1472C> T (p.Thr491Ile)single nucleotide variantPathogenicrs80338799GRCh37Chr 3, 12627244: 12627244
10BRAFNM_004333.4(BRAF): c.721A> C (p.Thr241Pro)single nucleotide variantPathogenicrs387906661GRCh37Chr 7, 140501351: 140501351
11BRAFNM_004333.4(BRAF): c.735A> T (p.Leu245Phe)single nucleotide variantLikely pathogenic, Pathogenicrs397507466GRCh37Chr 7, 140501337: 140501337
12PTPN11NM_002834.3(PTPN11): c.1381G> T (p.Ala461Ser)single nucleotide variantPathogenicrs121918468GRCh37Chr 12, 112926248: 112926248
13PTPN11NM_002834.3(PTPN11): c.1492C> T (p.Arg498Trp)single nucleotide variantPathogenicrs397507541GRCh37Chr 12, 112926872: 112926872
14PTPN11NM_002834.3(PTPN11): c.1493G> T (p.Arg498Leu)single nucleotide variantPathogenicrs397507542GRCh37Chr 12, 112926873: 112926873
15PTPN11NM_002834.3(PTPN11): c.1517A> C (p.Gln506Pro)single nucleotide variantPathogenicrs397507548GRCh37Chr 12, 112926897: 112926897
16PTPN11NM_002834.3(PTPN11): c.1528C> G (p.Gln510Glu)single nucleotide variantPathogenicrs397507549GRCh37Chr 12, 112926908: 112926908
17PTPN11NM_002834.3(PTPN11): c.836A> C (p.Tyr279Ser)single nucleotide variantPathogenicrs121918456GRCh37Chr 12, 112910827: 112910827

Expression for genes affiliated with Leopard Syndrome 1

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Search GEO for disease gene expression data for Leopard Syndrome 1.

Pathways for genes affiliated with Leopard Syndrome 1

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Pathways related to Leopard Syndrome 1 according to GeneCards Suite gene sharing:

(show top 50)    (show all 69)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
mTOR signaling pathway36
9.1BRAF, RAF1
29.1RAF1, BRAF
3
Show member pathways
9.1RAF1, BRAF
49.1RAF1, BRAF
59.1BRAF, RAF1
6
Show member pathways
9.1RAF1, BRAF
7
Show member pathways
Ras signaling in the CD4+ TCR pathway36
9.1RAF1, BRAF
8
Show member pathways
9.1RAF1, BRAF
9
Show member pathways
9.1RAF1, BRAF
109.1RAF1, BRAF
119.1RAF1, BRAF
12
Show member pathways
9.1RAF1, BRAF
13
Show member pathways
Immune response IL 22 signaling pathway58
G protein signaling N RAS regulation pathway58
9.1BRAF, RAF1
14
Show member pathways
RAC1 signaling pathway36
9.1BRAF, RAF1
15
Show member pathways
9.1BRAF, RAF1
169.1BRAF, RAF1
17
Show member pathways
9.1BRAF, RAF1
189.1RAF1, BRAF
199.1BRAF, RAF1
209.1RAF1, BRAF
21
Show member pathways
G protein signaling M RAS regulation pathway58
9.1RAF1, BRAF
22
Show member pathways
IL-2 Signaling pathway36
9.0RAF1, PTPN11
239.0RAF1, PTPN11
24
Show member pathways
Development Flt3 signaling58
9.0PTPN11, RAF1
25
Show member pathways
9.0RAF1, PTPN11
269.0PTPN11, RAF1
279.0PTPN11, RAF1
289.0PTPN11, RAF1
29
Show member pathways
EPO Receptor Signaling36
EPO signaling pathway36
9.0PTPN11, RAF1
309.0RAF1, PTPN11
31
Show member pathways
9.0RAF1, PTPN11
32
Show member pathways
Signaling events mediated by Stem cell factor receptor (c-Kit)36
9.0RAF1, PTPN11
339.0RAF1, PTPN11
349.0PTPN11, RAF1
35
Show member pathways
Immune response IL 3 activation and signaling pathway58
9.0PTPN11, RAF1
36
Show member pathways
8.5BRAF, PTPN11, RAF1
37
Show member pathways
8.5BRAF, PTPN11, RAF1
38
Show member pathways
IL-9 Signaling Pathway36
Development Thrombopoietin regulated cell processes58
IL-7 Signaling Pathway36
Immune response IL 9 signaling pathway58
8.5BRAF, RAF1, PTPN11
398.5RAF1, BRAF, PTPN11
408.5BRAF, RAF1, PTPN11
41
Show member pathways
MAPK Cascade36
Immune response Oncostatin M signaling via MAPK in human cells58
Oncostatin M Signaling Pathway36
8.5RAF1, PTPN11, BRAF
42
Show member pathways
8.5RAF1, BRAF, PTPN11
438.5PTPN11, RAF1, BRAF
44
Show member pathways
8.5BRAF, RAF1, PTPN11
458.5PTPN11, RAF1, BRAF
46
Show member pathways
Transcription Receptor mediated HIF regulation58
Development CNTF receptor signaling58
Class IB PI3K non-lipid kinase events36
ErbB2/ErbB3 signaling events36
Development Growth hormone signaling via PI3K AKT and MAPK cascades58
Translation Regulation activity of EIF258
Regulation of lipid metabolism Insulin signaling generic cascades58
Transcription PPAR Pathway58
Cell adhesion PLAU signaling58
Translation Regulation activity of EIF4F58
8.5PTPN11, RAF1, BRAF
47
Show member pathways
Immune response BCR pathway58
Fc-epsilon receptor I signaling in mast cells36
8.5PTPN11, RAF1, BRAF
48
Show member pathways
Development EGFR signaling via PIP358
Development PDGF signaling via MAPK cascades58
Apoptosis and survival Anti apoptotic action of membrane bound ESR158
Signaling of Hepatocyte Growth Factor Receptor36
Development EGFR signaling via small GTPases58
Development Neurotrophin family signaling58
Apoptosis and survival NGF signaling pathway58
Apoptosis and survival Role of CDK5 in neuronal death and survival58
8.5RAF1, BRAF, PTPN11
49
Show member pathways
Immune response CD16 signaling in NK cells58
8.5RAF1, BRAF, PTPN11
50
Show member pathways
8.5PTPN11, BRAF, RAF1

Compounds for genes affiliated with Leopard Syndrome 1

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Compounds related to Leopard Syndrome 1 according to GeneCards Suite gene sharing:

(show top 50)    (show all 873)
idCompoundScoreTop Affiliating Genes
1sb 590885599.6BRAF, RAF1
2gw 5074599.6BRAF, RAF1
3l-779,450599.6RAF1, BRAF
4gdc 0879599.6BRAF, RAF1
5gw-5074439.6BRAF, RAF1
6zm 33637259 4310.6BRAF, RAF1
7dabrafenib49 1210.6BRAF, RAF1
8regorafenib49 1210.5BRAF, RAF1
917-(allylamino)-17-demethoxygeldanamycin439.5BRAF, RAF1
10depsipeptide439.5RAF1, BRAF
11sorafenib43 49 1211.5BRAF, RAF1
12geldanamycin43 49 59 1212.5RAF1, BRAF
13DG(18:3(6Z,9Z,12Z)/18:4(6Z,9Z,12Z,15Z)/0:0)249.5RAF1, BRAF
14DG(18:2(9Z,12Z)/22:5(4Z,7Z,10Z,13Z,16Z)/0:0)249.5BRAF, RAF1
15DG(18:2(9Z,12Z)/16:1(9Z)/0:0)249.5BRAF, RAF1
16DG(18:1(9Z)/20:3(8Z,11Z,14Z)/0:0)249.5BRAF, RAF1
17DG(18:1(11Z)/22:5(4Z,7Z,10Z,13Z,16Z)/0:0)249.4BRAF, RAF1
18DG(18:3(6Z,9Z,12Z)/24:0/0:0)249.4RAF1, BRAF
19sodium orthovanadate43 5910.4RAF1, PTPN11
20DG(20:0/16:1(9Z)/0:0)249.4BRAF, RAF1
21DG(18:4(6Z,9Z,12Z,15Z)/20:4(5Z,8Z,11Z,14Z)/0:0)249.4BRAF, RAF1
22DG(18:4(6Z,9Z,12Z,15Z)/14:1(9Z)/0:0)249.4BRAF, RAF1
23ag 1478439.4RAF1, PTPN11
24DG(18:3(9Z,12Z,15Z)/20:2(11Z,14Z)/0:0)249.4BRAF, RAF1
25DG(18:1(11Z)/18:2(9Z,12Z)/0:0)249.4BRAF, RAF1
26DG(15:0/18:1(9Z)/0:0)249.4RAF1, BRAF
27DG(14:1(9Z)/22:0/0:0)249.3BRAF, RAF1
28DG(14:1(9Z)/16:1(9Z)/0:0)249.3BRAF, RAF1
29DG(14:0/20:4(5Z,8Z,11Z,14Z)/0:0)249.3BRAF, RAF1
30DG(14:0/14:1(9Z)/0:0)249.2BRAF, RAF1
31DG(15:0/22:4(7Z,10Z,13Z,16Z)/0:0)249.2RAF1, BRAF
32DG(18:0/22:2(13Z,16Z)/0:0)249.1BRAF, RAF1
33DG(16:0/20:5(5Z,8Z,11Z,14Z,17Z)/0:0)249.1BRAF, RAF1
34DG(16:1(9Z)/24:1(15Z)/0:0)249.0BRAF, RAF1
35imatinib43 49 1210.9PTPN11, BRAF, RAF1
36agar438.9PTPN11, BRAF, RAF1
37sb 20358043 599.9RAF1, PTPN11, BRAF
38rapamycin438.9PTPN11, BRAF, RAF1
39ly294002438.9PTPN11, BRAF, RAF1
40wortmannin438.9PTPN11, BRAF, RAF1
41phosphoinositide438.9RAF1, BRAF, PTPN11
42forskolin43 49 1210.9PTPN11, BRAF, RAF1
43cisplatin43 49 59 1211.9PTPN11, RAF1, BRAF
44oligonucleotide438.9RAF1, PTPN11, BRAF
45vegf438.9RAF1, PTPN11, BRAF
46phosphatidylinositol438.9PTPN11, RAF1, BRAF
47threonine438.9RAF1, BRAF, PTPN11
48alanine438.9PTPN11, BRAF, RAF1
49adp43 28 2410.9BRAF, RAF1, PTPN11
50DG(16:1(9Z)/18:3(6Z,9Z,12Z)/0:0)248.8BRAF, RAF1

GO Terms for genes affiliated with Leopard Syndrome 1

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Biological processes related to Leopard Syndrome 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of peptidyl-serine phosphorylationGO:00331389.1BRAF, RAF1
2heart developmentGO:00075079.0RAF1, PTPN11
3activation of MAPKK activityGO:00001869.0RAF1, BRAF
4insulin receptor signaling pathwayGO:00082868.7RAF1, PTPN11
5fibroblast growth factor receptor signaling pathwayGO:00085438.6RAF1, BRAF, PTPN11
6neurotrophin TRK receptor signaling pathwayGO:00480118.6RAF1, BRAF, PTPN11

Molecular functions related to Leopard Syndrome 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1MAP kinase kinase kinase activityGO:00047099.1RAF1, BRAF
2small GTPase bindingGO:00312679.0RAF1, BRAF
3mitogen-activated protein kinase kinase bindingGO:00314348.8RAF1, BRAF

Products for genes affiliated with Leopard Syndrome 1

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Sources for Leopard Syndrome 1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet