MCID: LPR012
MIFTS: 54

Leopard Syndrome 1 malady

Genetic diseases, Eye diseases, Ear diseases, Skin diseases, Fetal diseases, Rare diseases, Cardiovascular diseases, Neuronal diseases, Reproductive diseases categories
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Summaries for Leopard Syndrome 1

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47OMIM, 33MalaCards
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MalaCards: Leopard Syndrome 1, also known as leopard syndrome, is related to leopard syndrome and neurofibromatosis, and has symptoms including arterial aneurism (excluding aorta), rippled skin and absent/hypotonic/flaccid abdominal wall muscles. 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 skin, testes and kidney, and related mouse phenotypes are tumorigenesis and craniofacial.

Description from OMIM:47 151100,611554,613707

Aliases & Classifications for Leopard Syndrome 1

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Sources:
49Orphanet, 62UMLS, 47OMIM, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
leopard syndrome:
Inheritance: Autosomal dominant; Age of onset: Childhood


Aliases & Descriptions:

leopard syndrome 1 47
leopard syndrome 49 62
familial multiple lentigines syndrome 49
cardiomyopathic lentiginosis 49


External Ids:

MESH via Orphanet36 C537116, D044542
ICD10 via Orphanet26 Q87.8
SNOMED-CT via Orphanet59 111306001, 403537000
UMLS via Orphanet63 C0175704, C2931424

Related Diseases for Leopard Syndrome 1

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Leopard Syndrome family:

Ptpn11-Related Leopard Syndrome Raf1-Related Leopard Syndrome
Braf-Related Leopard Syndrome Leopard Syndrome 2
Leopard Syndrome 3 leopard syndrome 1

Diseases related to Leopard Syndrome 1 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 50)
idRelated DiseaseScoreTop Affiliating Genes
1leopard syndrome31.6RAF1, PTPN11
2neurofibromatosis30.4RAF1, PTPN11
3noonan syndrome30.4BRAF, PTPN11, RAF1
4melanoma30.1BRAF, RAF1, PTPN11
5short stature30.0PTPN11, BRAF
6hypertrophic cardiomyopathy10.5
7leopard syndrome 210.2
8leopard syndrome 310.2
9familial generalized lentiginosis10.2
10granular cell tumor10.2
11leukemia10.2
12ptpn11-related leopard syndrome10.2
13raf1-related leopard syndrome10.2
14braf-related leopard syndrome10.2
15noonan syndrome 110.1PTPN11
16cardiofaciocutaneous syndrome10.0PTPN11, BRAF
17costello syndrome10.0BRAF, PTPN11
18axonal neuropathy10.0
19wolff-parkinson-white syndrome10.0
20cerebritis10.0
21primary pulmonary hypertension10.0
22autism spectrum disorder10.0
23endocarditis10.0
24hypertension10.0
25infective endocarditis10.0
26lipomatosis10.0
27lymphoblastic leukemia10.0
28neuropathy10.0
29respiratory failure10.0
30acute myelomonocytic leukemia10.0
31neurofibromatosis-noonan syndrome10.0
32noonan-like/multiple giant cell lesion syndrome10.0
33partial agenesis of corpus callosum10.0
34schizencephaly10.0
35steatocystoma multiplex10.0
36noonan/ costello/ leopard/ cardiofaciocutaneous syndrome multi-gene panels10.0
37syncope10.0
38nevus of ota10.0
39choristoma10.0
40thyroid adenoma10.0RAF1, BRAF
41polycystic kidney disease, autosomal dominant10.0RAF1, BRAF
42thyroid medullary carcinoma10.0BRAF, RAF1
43kidney rhabdoid cancer10.0BRAF, RAF1
44papillary thyroid carcinoma10.0BRAF, RAF1
45cholangiocarcinoma9.9BRAF, RAF1
46congenital heart disease9.9BRAF, RAF1, PTPN11
47developmental disabilities9.9RAF1, BRAF, PTPN11
48stomach cancer9.9RAF1, BRAF, PTPN11
49malignant glioma9.9BRAF, PTPN11, RAF1
50colon cancer9.9PTPN11, BRAF, RAF1

Graphical network of the top 20 diseases related to Leopard Syndrome 1:



Diseases related to leopard syndrome 1

Symptoms for Leopard Syndrome 1

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Sources:
47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

151100

Clinical features from OMIM:

151100,611554,613707

Symptoms:

49 (show all 47)
  • arterial aneurism (excluding aorta)
  • rippled skin
  • absent/hypotonic/flaccid abdominal wall muscles
  • spina bifida occulta
  • scoliosis
  • triangular face
  • brachycephaly/flat occiput
  • sterility/hypofertility
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • abnormal cry/voice/phonation disorder/nasal speech
  • endocardium anomalies/fibroelastosis/endocarditis
  • short stature/dwarfism/nanism
  • myeloproliferative syndrome/chronic leukemia
  • neuroblastoma
  • melanoma
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • hypospadias/epispadias/bent penis
  • ectopic/horseshoe/fused kidneys
  • angor pectoris/myocardial infarction
  • cardiomyopathy/hypertrophic/dilated
  • atrioventricular canal
  • autosomal dominant inheritance
  • myelodysplastic syndrome
  • structural anomalies of the genital system
  • cardiac conduction defect/sinoauricular/heart/auriculoventricular/branch block
  • cardiac rhythm disorder/arrhythmia
  • pulmonary artery stenosis/absence/hypoplasia of the pulmonary branches
  • pulmonary valve atresia/stenosis/narrowing
  • excessive freckling
  • pigmented naevi/naevus pigmentosus/lentigo
  • hyperelastic skin/cutaneous hyperlaxity
  • sensorineural deafness/hearing loss
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • intrauterine growth retardation
  • congenital cardiac anomaly/malformation/cardiopathy
  • mitral valve prolapse/incompetence/insufficiency/regurgitation/ring anomaly
  • scapula structural/position anomaly/congenital elevation/sprengel anomaly
  • pectus excavatum
  • pectus carinatum
  • webbed neck/pterygium colli
  • low set ears/posteriorly rotated ears
  • anomalies of ear and hearing
  • broad nose/nasal bridge
  • ptosis
  • face/facial anomalies
  • hypertelorism

Drugs & Therapeutics for Leopard Syndrome 1

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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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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Anatomical Context for Leopard Syndrome 1

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33MalaCards
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MalaCards organs/tissues related to Leopard Syndrome 1:

33
Skin, Testes, Kidney, Heart, Eye

Animal Models for Leopard Syndrome 1 or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Leopard Syndrome 1:

37
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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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Leopard Syndrome 1:

64
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:

1 (show all 13)
id Gene Name 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
5RAF1NM_002880.3(RAF1): c.770C> T (p.Ser257Leu)single nucleotide variantPathogenicrs80338796GRCh37Chr 3, 12645699: 12645699
6RAF1NM_002880.3(RAF1): c.1837C> G (p.Leu613Val)single nucleotide variantPathogenicrs80338797GRCh37Chr 3, 12626123: 12626123
7BRAFNM_004333.4(BRAF): c.721A> C (p.Thr241Pro)single nucleotide variantPathogenicrs387906661GRCh37Chr 7, 140501351: 140501351
8BRAFNM_004333.4(BRAF): c.735A> T (p.Leu245Phe)single nucleotide variantLikely pathogenic, Pathogenicrs397507466GRCh37Chr 7, 140501337: 140501337
9PTPN11NM_002834.3(PTPN11): c.1492C> T (p.Arg498Trp)single nucleotide variantPathogenicrs397507541GRCh37Chr 12, 112926872: 112926872
10PTPN11NM_002834.3(PTPN11): c.1493G> T (p.Arg498Leu)single nucleotide variantPathogenicrs397507542GRCh37Chr 12, 112926873: 112926873
11PTPN11NM_002834.3(PTPN11): c.1517A> C (p.Gln506Pro)single nucleotide variantPathogenicrs397507548GRCh37Chr 12, 112926897: 112926897
12PTPN11NM_002834.3(PTPN11): c.1528C> G (p.Gln510Glu)single nucleotide variantPathogenicrs397507549GRCh37Chr 12, 112926908: 112926908
13PTPN11NM_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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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Leopard Syndrome 1

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

Pathways for genes affiliated with Leopard Syndrome 1

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Sources:
50PathCards, 30KEGG, 38NCBI BioSystems Database, 51PharmGKB, 61Tocris Bioscience, 55Reactome, 53QIAGEN, 54R&D Systems, 60Thomson Reuters, 5Cell Signaling Technology
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Pathways related to Leopard Syndrome 1 according to GeneCards/GeneDecks:

(show top 50)    (show all 69)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
mTOR signaling pathway38
9.1RAF1, BRAF
29.1RAF1, BRAF
3
Show member pathways
9.1BRAF, RAF1
49.1BRAF, RAF1
59.1RAF1, BRAF
6
Show member pathways
9.1BRAF, RAF1
7
Show member pathways
9.1BRAF, RAF1
8
Show member pathways
Ras signaling in the CD4+ TCR pathway38
9.1RAF1, BRAF
9
Show member pathways
9.1RAF1, BRAF
10
Show member pathways
9.1RAF1, BRAF
119.1RAF1, BRAF
129.1RAF1, BRAF
13
Show member pathways
9.1BRAF, RAF1
14
Show member pathways
Immune response IL 22 signaling pathway60
G protein signaling N RAS regulation pathway60
9.1RAF1, BRAF
15
Show member pathways
RAC1 signaling pathway38
9.1BRAF, RAF1
16
Show member pathways
9.1RAF1, BRAF
179.1RAF1, BRAF
18
Show member pathways
G protein signaling M RAS regulation pathway60
9.1BRAF, RAF1
199.1BRAF, RAF1
209.1BRAF, RAF1
219.1BRAF, RAF1
229.0RAF1, PTPN11
239.0PTPN11, RAF1
24
Show member pathways
Immune response IL 3 activation and signaling pathway60
9.0PTPN11, RAF1
25
Show member pathways
Development Flt3 signaling60
9.0RAF1, PTPN11
269.0PTPN11, RAF1
27
Show member pathways
Signaling events mediated by Stem cell factor receptor (c-Kit)38
9.0PTPN11, RAF1
28
Show member pathways
IL-2 Signaling pathway38
9.0RAF1, PTPN11
299.0RAF1, PTPN11
30
Show member pathways
9.0PTPN11, RAF1
319.0PTPN11, RAF1
329.0RAF1, PTPN11
33
Show member pathways
9.0PTPN11, RAF1
349.0RAF1, PTPN11
35
Show member pathways
EPO Receptor Signaling38
EPO signaling pathway38
9.0RAF1, PTPN11
36
Show member pathways
IL-9 Signaling Pathway38
Development Thrombopoietin regulated cell processes60
IL-7 Signaling Pathway38
Immune response IL 9 signaling pathway60
8.5RAF1, BRAF, PTPN11
378.5RAF1, BRAF, PTPN11
388.5RAF1, BRAF, PTPN11
398.5RAF1, BRAF, PTPN11
40
Show member pathways
Immune response CD16 signaling in NK cells60
8.5RAF1, BRAF, PTPN11
41
Show member pathways
8.5RAF1, BRAF, PTPN11
428.5RAF1, BRAF, PTPN11
43
Show member pathways
8.5RAF1, BRAF, PTPN11
44
Show member pathways
Transcription Receptor mediated HIF regulation60
Development CNTF receptor signaling60
Class IB PI3K non-lipid kinase events38
ErbB2/ErbB3 signaling events38
Development Growth hormone signaling via PI3K AKT and MAPK cascades60
Translation Regulation activity of EIF260
Regulation of lipid metabolism Insulin signaling generic cascades60
Transcription PPAR Pathway60
Cell adhesion PLAU signaling60
Translation Regulation activity of EIF4F60
8.5RAF1, BRAF, PTPN11
45
Show member pathways
8.5PTPN11, BRAF, RAF1
46
Show member pathways
8.5PTPN11, BRAF, RAF1
47
Show member pathways
8.5PTPN11, BRAF, RAF1
48
Show member pathways
Development EGFR signaling via PIP360
Development PDGF signaling via MAPK cascades60
Apoptosis and survival Anti apoptotic action of membrane bound ESR160
Signaling of Hepatocyte Growth Factor Receptor38
Development EGFR signaling via small GTPases60
Development Neurotrophin family signaling60
Apoptosis and survival NGF signaling pathway60
Apoptosis and survival Role of CDK5 in neuronal death and survival60
8.5PTPN11, BRAF, RAF1
49
Show member pathways
Immune response BCR pathway60
Fc-epsilon receptor I signaling in mast cells38
8.5PTPN11, BRAF, RAF1
50
Show member pathways
MAPK Cascade38
Immune response Oncostatin M signaling via MAPK in human cells60
Oncostatin M Signaling Pathway38
8.5PTPN11, BRAF, RAF1

Compounds for genes affiliated with Leopard Syndrome 1

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Sources:
61Tocris Bioscience, 45Novoseek, 51PharmGKB, 11DrugBank, 24HMDB, 29IUPHAR
See all sources

Compounds related to Leopard Syndrome 1 according to GeneCards/GeneDecks:

(show top 50)    (show all 873)
idCompoundScoreTop Affiliating Genes
1sb 590885619.6BRAF, RAF1
2gw 5074619.6BRAF, RAF1
3l-779,450619.6RAF1, BRAF
4gdc 0879619.6BRAF, RAF1
5gw-5074459.6BRAF, RAF1
6zm 33637261 4510.6BRAF, RAF1
7dabrafenib51 1110.6BRAF, RAF1
8regorafenib51 1110.5BRAF, RAF1
917-(allylamino)-17-demethoxygeldanamycin459.5BRAF, RAF1
10depsipeptide459.5RAF1, BRAF
11sorafenib45 51 1111.5BRAF, RAF1
12geldanamycin45 51 61 1112.5RAF1, BRAF
13DG(18:3(6Z,9Z,12Z)/22:1(13Z)/0:0)249.5RAF1, BRAF
14DG(18:3(6Z,9Z,12Z)/18:0/0:0)249.5BRAF, RAF1
15DG(18:2(9Z,12Z)/20:4(8Z,11Z,14Z,17Z)/0:0)249.5BRAF, RAF1
16DG(18:2(9Z,12Z)/15:0/0:0)249.5BRAF, RAF1
17DG(18:1(9Z)/20:3(5Z,8Z,11Z)/0:0)249.4BRAF, RAF1
18DG(18:3(9Z,12Z,15Z)/18:2(9Z,12Z)/0:0)249.4RAF1, BRAF
19sodium orthovanadate45 6110.4RAF1, PTPN11
20DG(20:0/20:2(11Z,14Z)/0:0)249.4BRAF, RAF1
21DG(18:4(6Z,9Z,12Z,15Z)/24:0/0:0)249.4BRAF, RAF1
22DG(18:4(6Z,9Z,12Z,15Z)/18:4(6Z,9Z,12Z,15Z)/0:0)249.4BRAF, RAF1
23ag 1478459.4RAF1, PTPN11
24DG(18:3(9Z,12Z,15Z)/22:5(4Z,7Z,10Z,13Z,16Z)/0:0)249.4BRAF, RAF1
25DG(18:1(11Z)/24:1(15Z)/0:0)249.4BRAF, RAF1
26DG(15:0/20:4(8Z,11Z,14Z,17Z)/0:0)249.4RAF1, BRAF
27DG(15:0/15:0/0:0)249.3BRAF, RAF1
28DG(14:1(9Z)/20:3(5Z,8Z,11Z)/0:0)249.3BRAF, RAF1
29DG(14:0/24:1(15Z)/0:0)249.3BRAF, RAF1
30DG(14:0/20:0/0:0)249.2BRAF, RAF1
31DG(16:0/22:1(13Z)/0:0)249.2RAF1, BRAF
32DG(18:1(11Z)/20:0/0:0)249.1BRAF, RAF1
33DG(16:1(9Z)/22:4(7Z,10Z,13Z,16Z)/0:0)249.1BRAF, RAF1
34DG(18:0/22:6(4Z,7Z,10Z,13Z,16Z,19Z)/0:0)249.0BRAF, RAF1
35imatinib45 51 1110.9PTPN11, BRAF, RAF1
36agar458.9PTPN11, BRAF, RAF1
37sb 20358045 619.9RAF1, PTPN11, BRAF
38rapamycin458.9PTPN11, BRAF, RAF1
39ly294002458.9PTPN11, BRAF, RAF1
40wortmannin458.9PTPN11, BRAF, RAF1
41phosphoinositide458.9RAF1, BRAF, PTPN11
42forskolin45 51 1110.9PTPN11, BRAF, RAF1
43cisplatin45 51 61 1111.9PTPN11, RAF1, BRAF
44oligonucleotide458.9RAF1, PTPN11, BRAF
45vegf458.9RAF1, PTPN11, BRAF
46phosphatidylinositol458.9PTPN11, RAF1, BRAF
47threonine458.9RAF1, BRAF, PTPN11
48alanine458.9PTPN11, BRAF, RAF1
49adp45 29 2410.9BRAF, RAF1, PTPN11
50DG(18:0/18:3(9Z,12Z,15Z)/0:0)248.8BRAF, RAF1

GO Terms for genes affiliated with Leopard Syndrome 1

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16Gene Ontology
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Biological processes related to Leopard Syndrome 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of peptidyl-serine phosphorylationGO:0331389.1BRAF, RAF1
2heart developmentGO:0075079.0RAF1, PTPN11
3activation of MAPKK activityGO:0001869.0RAF1, BRAF
4insulin receptor signaling pathwayGO:0082868.7RAF1, PTPN11
5fibroblast growth factor receptor signaling pathwayGO:0085438.6RAF1, BRAF, PTPN11
6neurotrophin TRK receptor signaling pathwayGO:0480118.6RAF1, BRAF, PTPN11

Molecular functions related to Leopard Syndrome 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1MAP kinase kinase kinase activityGO:0047099.1RAF1, BRAF
2small GTPase bindingGO:0312679.0RAF1, BRAF
3mitogen-activated protein kinase kinase bindingGO:0314348.8RAF1, BRAF

Products for genes affiliated with Leopard Syndrome 1

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Leopard Syndrome 1

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet