MCID: LPR012
MIFTS: 29

Leopard Syndrome 1 malady

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

Aliases & Classifications for Leopard Syndrome 1

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Aliases & Descriptions for Leopard Syndrome 1:

Name: Leopard Syndrome 1 50 68 25 12
Multiple Lentigines Syndrome 25
 
Leopard Syndrome 66
Lprd1 68

Characteristics:

HPO:

62
leopard syndrome 1:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 151100
MeSH37 D044542

Summaries for Leopard Syndrome 1

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OMIM:50 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 leopard syndrome 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:68 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 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 cryptorchidism HP:0000028
4 hypospadias HP:0000047
5 micropenis HP:0000054
6 unilateral renal agenesis HP:0000122
7 cleft palate HP:0000175
8 parietal bossing HP:0000242
9 epicanthus HP:0000286
10 mandibular prognathia HP:0000303
11 hypertelorism HP:0000316
12 triangular face HP:0000325
13 posteriorly rotated ears HP:0000358
14 low-set ears HP:0000369
15 sensorineural hearing impairment HP:0000407
16 protruding ear HP:0000411
17 depressed nasal ridge HP:0000457
18 webbed neck HP:0000465
19 short neck HP:0000470
20 strabismus HP:0000486
21 ptosis HP:0000508
22 pectus excavatum HP:0000767
23 pectus carinatum HP:0000768
24 delayed puberty HP:0000823
25 missing ribs HP:0000921
26 cafe-au-lait spot HP:0000957
27 multiple lentigines HP:0001003
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

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
MaravirocPhase 1139376348-65-13002977
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

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 125
2 Multiple Lentigines25

Anatomical Context for Leopard Syndrome 1

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MalaCards organs/tissues related to Leopard Syndrome 1:

34
Ovary

Animal Models for Leopard Syndrome 1 or affiliated genes

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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:

68
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_076499

Clinvar genetic disease variations for Leopard Syndrome 1:

5
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
6PTPN11NM_002834.3(PTPN11): c.1492C> T (p.Arg498Trp)single nucleotide variantPathogenicrs397507541GRCh37Chr 12, 112926872: 112926872
7PTPN11NM_002834.3(PTPN11): c.1493G> T (p.Arg498Leu)single nucleotide variantPathogenicrs397507542GRCh37Chr 12, 112926873: 112926873
8PTPN11NM_002834.3(PTPN11): c.1517A> C (p.Gln506Pro)single nucleotide variantPathogenicrs397507548GRCh37Chr 12, 112926897: 112926897
9PTPN11NM_002834.3(PTPN11): c.1528C> G (p.Gln510Glu)single nucleotide variantPathogenicrs397507549GRCh37Chr 12, 112926908: 112926908
10PTPN11NM_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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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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet