MCID: LPR012
MIFTS: 30

Leopard Syndrome 1 malady

Categories: Genetic diseases (common), Cardiovascular diseases

Aliases & Classifications for Leopard Syndrome 1

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Aliases & Descriptions for Leopard Syndrome 1:

Name: Leopard Syndrome 1 52 70 27 12
Multiple Lentigines Syndrome 27
 
Leopard Syndrome 68
Lprd1 70

Characteristics:

HPO:

64
leopard syndrome 1:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 151100
MeSH39 D044542

Summaries for Leopard Syndrome 1

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OMIM:52 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 multiple lentigines syndrome, is related to lentiginosis, inherited patterned and noonan syndrome with multiple lentigines, and has symptoms including pulmonic stenosis, hypertrophic cardiomyopathy and cryptorchidism. An important gene associated with Leopard Syndrome 1 is PTPN11 (Protein Tyrosine Phosphatase, Non-Receptor Type 11). Affiliated tissues include ovary.

UniProtKB/Swiss-Prot:70 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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Graphical network of diseases related to Leopard Syndrome 1:



Diseases related to leopard syndrome 1

Symptoms & Phenotypes for Leopard Syndrome 1

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Symptoms by clinical synopsis from OMIM:

151100

Clinical features from OMIM:

151100

Human phenotypes related to Leopard Syndrome 1:

 64 (show all 41)
id Description HPO Frequency HPO Source Accession
1 pulmonic stenosis64 40% HP:0001642
2 hypertrophic cardiomyopathy64 20% HP:0001639
3 cryptorchidism64 HP:0000028
4 hypospadias64 HP:0000047
5 micropenis64 HP:0000054
6 unilateral renal agenesis64 HP:0000122
7 cleft palate64 HP:0000175
8 parietal bossing64 HP:0000242
9 epicanthus64 HP:0000286
10 mandibular prognathia64 HP:0000303
11 hypertelorism64 HP:0000316
12 triangular face64 HP:0000325
13 posteriorly rotated ears64 HP:0000358
14 low-set ears64 HP:0000369
15 sensorineural hearing impairment64 HP:0000407
16 protruding ear64 HP:0000411
17 depressed nasal ridge64 HP:0000457
18 webbed neck64 HP:0000465
19 short neck64 HP:0000470
20 strabismus64 HP:0000486
21 ptosis64 HP:0000508
22 pectus excavatum64 HP:0000767
23 pectus carinatum64 HP:0000768
24 delayed puberty64 HP:0000823
25 missing ribs64 HP:0000921
26 cafe-au-lait spot64 HP:0000957
27 multiple lentigines64 HP:0001003
28 intellectual disability, mild64 HP:0001256
29 subaortic stenosis64 HP:0001682
30 third degree atrioventricular block64 HP:0001709
31 kyphoscoliosis64 HP:0002751
32 cubitus valgus64 HP:0002967
33 limited elbow movement64 HP:0002996
34 spina bifida occulta64 HP:0003298
35 scapular winging64 HP:0003691
36 short stature64 HP:0004322
37 hyposmia64 HP:0004409
38 hypoplasia of the ovary64 HP:0008724
39 aplasia of the ovary64 HP:0010463
40 bundle branch block64 HP:0011710
41 delayed menarche64 HP:0012569

UMLS symptoms related to Leopard Syndrome 1:


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 1142376348-65-13002977
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 19732
3Anti-Retroviral AgentsPhase 13232
4Anti-Infective AgentsPhase 121402
5Anti-HIV AgentsPhase 13100

Interventional clinical trials:

idNameStatusNCT IDPhase
1Safety and Pharmacokinetics of Dapivirine/Maraviroc Vaginal RingCompletedNCT01363037Phase 1
2Hormonal 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 127
2 Multiple Lentigines27

Anatomical Context for Leopard Syndrome 1

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MalaCards organs/tissues related to Leopard Syndrome 1:

36
Ovary

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:

70
id Symbol AA change Variation ID SNP ID
1PTPN11p.Tyr279CysVAR_015614rs121918456
2PTPN11p.Thr472MetVAR_015621rs121918457
3PTPN11p.Tyr279SerVAR_027188rs121918456
4PTPN11p.Ala465ThrVAR_027190rs121918468
5PTPN11p.Gly468AlaVAR_027191rs121918469
6PTPN11p.Arg502LeuVAR_027192rs397507542
7PTPN11p.Arg502TrpVAR_027193rs397507541
8PTPN11p.Gln510ProVAR_027194rs397509345
9PTPN11p.Gln514ProVAR_027196rs121918470
10PTPN11p.Gln514GluVAR_076499rs397507549

Clinvar genetic disease variations for Leopard Syndrome 1:

5 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1PTPN11NM_002834.4(PTPN11): c.836A> G (p.Tyr279Cys)SNVPathogenicrs121918456GRCh37Chr 12, 112910827: 112910827
2PTPN11NM_002834.4(PTPN11): c.1403C> T (p.Thr468Met)SNVLikely pathogenic, Pathogenicrs121918457GRCh37Chr 12, 112926270: 112926270
3PTPN11NM_002834.4(PTPN11): c.1381G> A (p.Ala461Thr)SNVPathogenicrs121918468GRCh37Chr 12, 112926248: 112926248
4PTPN11NM_002834.4(PTPN11): c.1391G> C (p.Gly464Ala)SNVPathogenicrs121918469GRCh37Chr 12, 112926258: 112926258
5PTPN11NM_002834.4(PTPN11): c.1529A> C (p.Gln510Pro)SNVPathogenicrs121918470GRCh37Chr 12, 112926909: 112926909
6PTPN11NM_002834.4(PTPN11): c.1492C> T (p.Arg498Trp)SNVPathogenicrs397507541GRCh37Chr 12, 112926872: 112926872
7PTPN11NM_002834.4(PTPN11): c.1493G> T (p.Arg498Leu)SNVPathogenicrs397507542GRCh37Chr 12, 112926873: 112926873
8PTPN11NM_002834.4(PTPN11): c.1517A> C (p.Gln506Pro)SNVPathogenicrs397507548GRCh37Chr 12, 112926897: 112926897
9PTPN11NM_002834.4(PTPN11): c.1528C> G (p.Gln510Glu)SNVPathogenicrs397507549GRCh37Chr 12, 112926908: 112926908
10PTPN11NM_002834.4(PTPN11): c.1530G> C (p.Gln510His)SNVLikely pathogenic, Pathogenicrs397507550GRCh37Chr 12, 112926910: 112926910
11PTPN11NM_002834.4(PTPN11): c.836A> C (p.Tyr279Ser)SNVPathogenicrs121918456GRCh37Chr 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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GO Terms for genes affiliated with Leopard Syndrome 1

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Sources for Leopard Syndrome 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet