MCID: LPR012
MIFTS: 48

Leopard Syndrome 1 malady

Categories: Genetic diseases, Cardiovascular diseases, Rare diseases, Neuronal diseases, Skin diseases, Reproductive diseases, Ear diseases

Aliases & Classifications for Leopard Syndrome 1

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Aliases & Descriptions for Leopard Syndrome 1:

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

Characteristics:

HPO:

61
leopard syndrome 1:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 151100
MeSH36 D044542
UMLS65 C3492944, C0265328

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 lentiginosis profusa, is related to leopard syndrome and leopard syndrome 2, and has symptoms including pulmonic stenosis, hypertrophic cardiomyopathy and delayed menarche. An important gene associated with Leopard Syndrome 1 is PTPN11 (Protein Tyrosine Phosphatase, Non-Receptor Type 11), and among its related pathways are MAPK Signaling: Oxidative Stress Pathway and VEGF Pathway (Tocris). Affiliated tissues include lung, skin and eye, and related mouse phenotypes are liver/biliary system and tumorigenesis.

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.

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

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 all 49)
idRelated DiseaseScoreTop Affiliating Genes
1leopard syndrome12.3
2leopard syndrome 212.1
3leopard syndrome 312.1
4ptpn11-related leopard syndrome11.9
5raf1-related leopard syndrome11.9
6braf-related leopard syndrome11.9
7noonan syndrome with multiple lentigines11.4
8cardiomyopathy10.2
9hypertrophic cardiomyopathy10.2
10granular cell tumor10.0
11neurofibromatosis10.0
12neurofibromatosis, type 19.8
13leukemia9.8
14melanoma9.8
15schizencephaly9.7
16obesity9.7
17wolff-parkinson-white syndrome9.7
18neurofibromatosis-noonan syndrome9.7
19steatocystoma multiplex9.7
20pulmonary hypertension9.7
21infective endocarditis9.7
22autism spectrum disorder9.7
23cardiac arrest9.7
24endocarditis9.7
25lymphoblastic leukemia9.7
26respiratory failure9.7
27heart disease9.7
28patent ductus arteriosus9.7
29lipomatosis9.7
30cerebritis9.7
31axonal neuropathy9.7
32neuropathy9.7
33noonan-like/multiple giant cell lesion syndrome9.7
34sudden cardiac death9.7
35syncope9.7
36nevus of ota9.7
37pseudoachondroplastic dysplasia 29.5PTPN11, RAF1
38stork bite9.4PTPN11, RAF1
39conjunctival concretion9.4PTPN11, RAF1
40dengue hemorrhagic fever9.3PTPN11, RAF1
41nuclear gene-encoded leigh syndrome9.2BRAF, PTPN11, RAF1
42metachondromatosis9.2BRAF, PTPN11, RAF1
43rad21-related cornelia de lange syndrome9.2BRAF, PTPN11, RAF1
44leprechaunism9.2PTPN11, RAF1
45punctate acrokeratoderma freckle like pigmentation9.2BRAF, PTPN11, RAF1
46vulvar dystrophy9.1BRAF, PTPN11, RAF1
47noonan syndrome 79.1BRAF, PTPN11, RAF1
48pleomorphic xanthoastrocytoma9.1BRAF, PTPN11, RAF1
49leopard syndrome 19.1BRAF, PTPN11, 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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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 delayed menarche HP:0012569
4 bundle branch block HP:0011710
5 aplasia of the ovary HP:0010463
6 hypoplasia of the ovary HP:0008724
7 hyposmia HP:0004409
8 short stature HP:0004322
9 scapular winging HP:0003691
10 spina bifida occulta HP:0003298
11 limited elbow movement HP:0002996
12 cubitus valgus HP:0002967
13 kyphoscoliosis HP:0002751
14 third degree atrioventricular block HP:0001709
15 subaortic stenosis HP:0001682
16 intellectual disability, mild HP:0001256
17 multiple lentigines HP:0001003
18 cafe-au-lait spot HP:0000957
19 missing ribs HP:0000921
20 delayed puberty HP:0000823
21 pectus carinatum HP:0000768
22 pectus excavatum HP:0000767
23 ptosis HP:0000508
24 strabismus HP:0000486
25 short neck HP:0000470
26 webbed neck HP:0000465
27 depressed nasal ridge HP:0000457
28 protruding ear HP:0000411
29 sensorineural hearing impairment HP:0000407
30 low-set ears HP:0000369
31 posteriorly rotated ears HP:0000358
32 triangular face HP:0000325
33 hypertelorism HP:0000316
34 mandibular prognathia HP:0000303
35 epicanthus HP:0000286
36 parietal bossing HP:0000242
37 cleft palate HP:0000175
38 unilateral renal agenesis HP:0000122
39 micropenis HP:0000054
40 hypospadias HP:0000047
41 cryptorchidism HP:0000028

UMLS symptoms related to Leopard Syndrome 1:


seizures, sense of smell impaired

Drugs & Therapeutics for Leopard Syndrome 1

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Drugs for Leopard Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Maravirocapproved, investigationalPhase 1135376348-65-13002977
Synonyms:
376348-65-1
4,4-Difluoro-N-((1S)-3-(exo-3-(3-isopropyl-5-methyl-4H-1,2,4-triazol-4-yl)-8-azabicyclo(3.2.1)oct-8-yl)-1-phenylpropyl)cyclohexanecarboxamide
4,4-difluoro-N-[(1S)-3-[(1R,5S)-3-(3-methyl-5-propan-2-yl-1,2,4-triazol-4-yl)-8-azabicyclo[3.2.1]octan-8-yl]-1-phenylpropyl]cyclohexane-1-carboxamide
674782-29-7
AC-558
AC1MHEFQ
CHEBI:537583
CHEMBL1201187
CHEMBL256907
CID3002977
Celsentri
Celsentri(TM)
DB04835
Isopropyl, 4,4-difluoro-N-((1S)-3-{(1R,3s,5S)-3-(3-methyl-5-(propan-2-yl)-4H-1,2,4-triazol-4-yl)-8-azabicyclo(3.2.1)octan-8-yl}-1-phenylpropyl)cyclohexanecarboxamide
 
LS-182818
MVC
Maraviroc
Maraviroc [USAN]
PRO 140 & Maraviroc
PRO 140 (Anti-CCR5 monoclonal antibody) & exo-4,4-Difluoro-N-[3-[3-(3-isopropyl-5-methyl-4H-1,2,4-triazol-4-yl)-8-azabicyclo[3.2.1]oct-8-yl]-1(S)-phenylpropyl]cyclohexanecarboxamide
Selzentry
Selzentry(TM)
UK 427857
UK-427,857
UK-427,857 maraviroc (MVC)
UK-427857
UNII-MD6P741W8A
exo-4,4-Difluoro-N-[3-[3-(3-isopropyl-5-methyl-4H-1,2,4-triazol-4-yl)-8-azabicyclo[3.2.1]oct-8-yl]-1(S)-phenylpropyl]cyclohexanecarboxamide
maraviroc
2Antiviral AgentsPhase 18071
3Anti-Retroviral AgentsPhase 12794
4Anti-Infective AgentsPhase 117220

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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Anatomical Context for Leopard Syndrome 1

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MalaCards organs/tissues related to Leopard Syndrome 1:

33
Lung, Skin, Eye, Heart, Ovary, Liver, Prostate

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:00053709.0BRAF, PTPN11, RAF1
2MP:00020069.0BRAF, PTPN11, RAF1
3MP:00053888.9BRAF, PTPN11, RAF1
4MP:00053698.8BRAF, PTPN11, RAF1
5MP:00053828.8BRAF, PTPN11, RAF1
6MP:00053778.7BRAF, 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 16)
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 variantLikely pathogenic, Pathogenicrs121918457GRCh37Chr 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.1472C> T (p.Thr491Ile)single nucleotide variantPathogenicrs80338799GRCh37Chr 3, 12627244: 12627244
9BRAFNM_004333.4(BRAF): c.721A> C (p.Thr241Pro)single nucleotide variantLikely pathogenic, Pathogenicrs387906661GRCh37Chr 7, 140501351: 140501351
10BRAFNM_004333.4(BRAF): c.735A> T (p.Leu245Phe)single nucleotide variantLikely pathogenic, Pathogenicrs397507466GRCh37Chr 7, 140501337: 140501337
11PTPN11NM_002834.3(PTPN11): c.1381G> T (p.Ala461Ser)single nucleotide variantPathogenicrs121918468GRCh37Chr 12, 112926248: 112926248
12PTPN11NM_002834.3(PTPN11): c.1492C> T (p.Arg498Trp)single nucleotide variantPathogenicrs397507541GRCh37Chr 12, 112926872: 112926872
13PTPN11NM_002834.3(PTPN11): c.1493G> T (p.Arg498Leu)single nucleotide variantPathogenicrs397507542GRCh37Chr 12, 112926873: 112926873
14PTPN11NM_002834.3(PTPN11): c.1517A> C (p.Gln506Pro)single nucleotide variantPathogenicrs397507548GRCh37Chr 12, 112926897: 112926897
15PTPN11NM_002834.3(PTPN11): c.1528C> G (p.Gln510Glu)single nucleotide variantPathogenicrs397507549GRCh37Chr 12, 112926908: 112926908
16PTPN11NM_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 59)
idSuper pathwaysScoreTop Affiliating Genes
19.1BRAF, RAF1
2
Show member pathways
9.1BRAF, RAF1
39.1BRAF, RAF1
4
Show member pathways
9.1BRAF, RAF1
5
Show member pathways
9.1BRAF, RAF1
69.1BRAF, RAF1
7
Show member pathways
9.1BRAF, RAF1
89.1BRAF, RAF1
99.1BRAF, RAF1
109.1BRAF, RAF1
11
Show member pathways
9.1BRAF, RAF1
12
Show member pathways
9.1BRAF, RAF1
13
Show member pathways
9.1BRAF, RAF1
14
Show member pathways
9.1BRAF, RAF1
159.1BRAF, RAF1
169.1BRAF, RAF1
179.1BRAF, RAF1
18
Show member pathways
9.1BRAF, RAF1
199.1BRAF, RAF1
209.1BRAF, RAF1
219.1BRAF, RAF1
229.1BRAF, RAF1
239.1BRAF, RAF1
249.1BRAF, RAF1
259.1BRAF, RAF1
26
Show member pathways
9.1BRAF, RAF1
279.1BRAF, RAF1
289.0PTPN11, RAF1
29
Show member pathways
9.0PTPN11, RAF1
30
Show member pathways
9.0PTPN11, RAF1
319.0PTPN11, RAF1
329.0PTPN11, RAF1
33
Show member pathways
9.0PTPN11, RAF1
349.0PTPN11, RAF1
35
Show member pathways
9.0PTPN11, RAF1
369.0PTPN11, RAF1
379.0PTPN11, RAF1
389.0PTPN11, RAF1
39
Show member pathways
9.0PTPN11, RAF1
409.0PTPN11, RAF1
41
Show member pathways
8.5BRAF, PTPN11, RAF1
42
Show member pathways
8.5BRAF, PTPN11, RAF1
438.5BRAF, PTPN11, RAF1
44
Show member pathways
8.5BRAF, PTPN11, RAF1
45
Show member pathways
8.5BRAF, PTPN11, RAF1
46
Show member pathways
8.5BRAF, 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 9)
idNameGO IDScoreTop Affiliating Genes
1intracellular signal transductionGO:00355569.6BRAF, RAF1
2thymus developmentGO:00485389.5BRAF, RAF1
3somatic stem cell population maintenanceGO:00350199.5BRAF, RAF1
4Ras protein signal transductionGO:00072659.4BRAF, RAF1
5activation of MAPKK activityGO:00001869.4BRAF, RAF1
6epidermal growth factor receptor signaling pathwayGO:00071738.9BRAF, PTPN11, RAF1
7fibroblast growth factor receptor signaling pathwayGO:00085438.9BRAF, PTPN11, RAF1
8insulin receptor signaling pathwayGO:00082868.7BRAF, PTPN11, RAF1
9innate immune responseGO:00450878.5BRAF, PTPN11, 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