MCID: LPR012
MIFTS: 47

Leopard Syndrome 1 malady

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

Aliases & Classifications for Leopard Syndrome 1

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Aliases & Descriptions for Leopard Syndrome 1:

Name: Leopard Syndrome 1 49 11 24 67
Leopard Syndrome 23 65
Progressive Cardiomyopathic Lentiginosis 23
Noonan Syndrome with Multiple Lentigines 23
Cardiomyopathic Lentiginosis 23
Multiple Lentigines Syndrome 23
 
Cardio-Cutaneous Syndrome 23
Diffuse Lentiginosis 23
Lentiginosis Profusa 23
Moynahan Syndrome 23
Lprd1 67


Classifications:



External Ids:

OMIM49 151100
MeSH36 D044542

Summaries for Leopard Syndrome 1

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Genetics Home Reference:23 Multiple lentigines syndrome (formerly called LEOPARD syndrome) is a condition that affects many areas of the body. The characteristic features associated with the condition include brown skin spots called lentigines that are similar to freckles, abnormalities in the electrical signals that control the heartbeat, widely spaced eyes (ocular hypertelorism), a narrowing of the artery from the heart to the lungs (pulmonary stenosis), abnormalities of the genitalia, short stature, and hearing loss. These features vary, however, even among affected individuals in the same family. Not all individuals affected with multiple lentigines syndrome have all the characteristic features of this condition.

MalaCards based summary: Leopard Syndrome 1, also known as leopard syndrome, is related to noonan syndrome 6 and noonan syndrome 1, 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 Interleukin-11 Signaling Pathway and IL-3 Signaling Pathway. Affiliated tissues include skin, eye and lung, and related mouse phenotypes are craniofacial and liver/biliary system.

OMIM:49 LEOPARD is an acronym for the manifestations of this syndrome as listed by Gorlin et al. (1969): multiple lentigines,... (151100) more...

UniProtKB/Swiss-Prot:67 LEOPARD syndrome 1: A disorder characterized by lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormalities of genitalia, retardation of growth, and sensorineural deafness.

Related Diseases for Leopard Syndrome 1

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Diseases in the Leopard Syndrome family:

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

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

(show top 50)    (show all 83)
idRelated DiseaseScoreTop Affiliating Genes
1noonan syndrome 629.9PTPN11, RAF1
2noonan syndrome 129.4BRAF, PTPN11, RAF1
3leopard syndrome11.1
4cardiomyopathy10.5
5hypertrophic cardiomyopathy10.5
6leopard syndrome 210.5
7leopard syndrome 310.5
8neurofibroma10.4
9myoblastoma10.4
10neurofibromatosis10.3
11noonan syndrome with multiple lentigines10.3
12braf-related leopard syndrome10.3
13ptpn11-related leopard syndrome10.3
14raf1-related leopard syndrome10.3
15alopecia epilepsy oligophrenia syndrome of moynahan10.2
16neurofibromatosis, type 110.2
17leukemia10.2
18granular cell tumor10.2
19melanoma10.2
20familial generalized lentiginosis10.2
21aorto-right ventricular tunnel10.2
22noonan syndrome 410.0
23schizencephaly10.0
24coronary heart disease 210.0
25noonan syndrome 510.0
26c syndrome10.0
27short syndrome10.0
28wolff-parkinson-white syndrome10.0
29noonan syndrome 310.0
30neurofibromatosis-noonan syndrome10.0
31steatocystoma multiplex10.0
32coronary heart disease 310.0
33child syndrome10.0
34pulmonary hypertension10.0
35heart valve disease10.0
36skin disease10.0
37axonal neuropathy10.0
38cerebritis10.0
39cardiac arrest10.0
40autism spectrum disorder10.0
41bone cancer10.0
42bone development disease10.0
43congenital heart disease10.0
44connective tissue cancer10.0
45connective tissue disease10.0
46coronary stenosis10.0
47endocarditis10.0
48heart cancer10.0
49infective endocarditis10.0
50lipomatosis10.0

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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Symptoms by clinical synopsis from OMIM:

151100

Clinical features from OMIM:

151100

HPO human phenotypes related to Leopard Syndrome 1:

(show all 42)
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 multiple lentigines HP:0001003
29 intellectual disability, mild HP:0001256
30 subaortic stenosis HP:0001682
31 third degree atrioventricular block HP:0001709
32 kyphoscoliosis HP:0002751
33 cubitus valgus HP:0002967
34 limited elbow movement HP:0002996
35 spina bifida occulta HP:0003298
36 scapular winging HP:0003691
37 short stature HP:0004322
38 hyposmia HP:0004409
39 hypoplasia of the ovary HP:0008724
40 aplasia of the ovary HP:0010463
41 bundle branch block HP:0011710
42 delayed menarche HP:0012569

Drugs & Therapeutics for Leopard Syndrome 1

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Safety and Pharmacokinetics of Dapivirine/Maraviroc Vaginal RingCompletedNCT01363037Phase 1
2Collection of Samples From HIV-1 Infected Individuals for Evaluation of the Aptima HIV-1 AssayActive, not recruitingNCT02026752
3Hormonal Sensitivity in Patients With Noonan and LEOPARD SyndromesNot yet recruitingNCT02486731

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 124

Anatomical Context for Leopard Syndrome 1

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MalaCards organs/tissues related to Leopard Syndrome 1:

33
Skin, Eye, Lung, Heart, Ovary

Animal Models for Leopard Syndrome 1 or affiliated genes

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MGI Mouse Phenotypes related to Leopard Syndrome 1:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.8BRAF, PTPN11, RAF1
2MP:00053708.7BRAF, PTPN11, RAF1
3MP:00053698.6BRAF, PTPN11, RAF1
4MP:00020068.5BRAF, PTPN11, RAF1
5MP:00053918.4BRAF, PTPN11, RAF1
6MP:00053888.2BRAF, PTPN11, RAF1

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:

67
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:

5 (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 57)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3PTPN11, RAF1
29.3PTPN11, RAF1
3
Show member pathways
9.3PTPN11, RAF1
4
Show member pathways
9.3PTPN11, RAF1
59.3PTPN11, RAF1
69.3PTPN11, RAF1
7
Show member pathways
9.3PTPN11, RAF1
89.3PTPN11, RAF1
9
Show member pathways
9.3PTPN11, RAF1
109.3PTPN11, RAF1
119.3PTPN11, RAF1
129.3PTPN11, RAF1
13
Show member pathways
9.3PTPN11, RAF1
149.1BRAF, RAF1
15
Show member pathways
9.1BRAF, RAF1
169.1BRAF, RAF1
17
Show member pathways
9.1BRAF, RAF1
18
VEGF Pathway (Tocris)
Show member pathways
9.1BRAF, RAF1
199.1BRAF, RAF1
20
Show member pathways
9.1BRAF, RAF1
21
Show member pathways
9.1BRAF, RAF1
229.1BRAF, RAF1
23
Show member pathways
9.1BRAF, RAF1
249.1BRAF, RAF1
259.1BRAF, RAF1
269.1BRAF, RAF1
279.1BRAF, RAF1
28
Show member pathways
9.1BRAF, RAF1
299.1BRAF, RAF1
309.1BRAF, RAF1
319.1BRAF, RAF1
329.1BRAF, RAF1
339.1BRAF, RAF1
349.1BRAF, RAF1
359.1BRAF, RAF1
36
Show member pathways
9.1BRAF, RAF1
379.1BRAF, RAF1
38
Show member pathways
9.1BRAF, RAF1
39
Show member pathways
9.0BRAF, PTPN11
408.5BRAF, PTPN11, RAF1
41
Show member pathways
8.5BRAF, PTPN11, RAF1
42
B Cell Receptor Signaling Pathway (WikiPathways)
Show member pathways
8.5BRAF, PTPN11, RAF1
43
Show member pathways
8.5BRAF, PTPN11, RAF1
44
Show member pathways
8.5BRAF, PTPN11, RAF1
45
Show member pathways
8.5BRAF, PTPN11, RAF1
468.5BRAF, PTPN11, RAF1
47
Show member pathways
8.5BRAF, PTPN11, RAF1
48
Show member pathways
8.5BRAF, PTPN11, RAF1
49
Show member pathways
8.5BRAF, PTPN11, RAF1
50
Show member pathways
8.5BRAF, PTPN11, 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:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of peptidyl-serine phosphorylationGO:00331389.6BRAF, RAF1
2somatic stem cell population maintenanceGO:00350199.6BRAF, RAF1
3positive regulation of ERK1 and ERK2 cascadeGO:00703749.4BRAF, PTPN11
4insulin receptor signaling pathwayGO:00082868.8BRAF, PTPN11, RAF1
5fibroblast growth factor receptor signaling pathwayGO:00085438.7BRAF, PTPN11, RAF1
6Fc-epsilon receptor signaling pathwayGO:00380958.7BRAF, PTPN11, RAF1
7neurotrophin TRK receptor signaling pathwayGO:00480118.7BRAF, PTPN11, RAF1
8innate immune responseGO:00450878.5BRAF, PTPN11, RAF1
9epidermal growth factor receptor signaling pathwayGO:00071738.4BRAF, PTPN11, RAF1
10axon guidanceGO:00074118.2BRAF, PTPN11, RAF1

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

idNameGO IDScoreTop Affiliating Genes
1small GTPase bindingGO:00312679.4BRAF, RAF1
2MAP kinase kinase kinase activityGO:00047099.1BRAF, RAF1
3mitogen-activated protein kinase kinase bindingGO:00314349.0BRAF, RAF1
4receptor signaling protein activityGO:00050578.8BRAF, RAF1

Sources for Leopard Syndrome 1

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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