LPRD1
MCID: LPR012
MIFTS: 30

Leopard Syndrome 1 (LPRD1) malady

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

Aliases & Classifications for Leopard Syndrome 1

Aliases & Descriptions for Leopard Syndrome 1:

Name: Leopard Syndrome 1 54 66 29 13
Multiple Lentigines Syndrome 29
Leopard Syndrome 69
Lprd1 66

Characteristics:

HPO:

32
leopard syndrome 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 151100
MeSH 42 D044542

Summaries for Leopard Syndrome 1

OMIM : 54 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 hyposmia, hypertelorism and low-set ears. An important gene associated with Leopard Syndrome 1 is PTPN11 (Protein Tyrosine Phosphatase, Non-Receptor Type 11). The drugs Maraviroc and Anti-HIV Agents have been mentioned in the context of this disorder. Affiliated tissues include ovary.

UniProtKB/Swiss-Prot : 66 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

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:

id Related Disease Score Top Affiliating Genes
1 leopard syndrome 11.5
2 noonan syndrome with multiple lentigines 11.1
3 ptpn11-related leopard syndrome 10.9
4 raf1-related leopard syndrome 10.9
5 lentiginosis, inherited patterned 10.9
6 aorto-right ventricular tunnel 9.7
7 neurofibromatosis, type 1 9.7
8 neurofibromatosis 9.7

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



Diseases related to Leopard Syndrome 1

Symptoms & Phenotypes for Leopard Syndrome 1

Symptoms by clinical synopsis from OMIM:

151100

Clinical features from OMIM:

151100

Human phenotypes related to Leopard Syndrome 1:

32 (show all 41)
id Description HPO Frequency HPO Source Accession
1 hyposmia 32 HP:0004409
2 hypertelorism 32 HP:0000316
3 low-set ears 32 HP:0000369
4 short neck 32 HP:0000470
5 pectus excavatum 32 HP:0000767
6 ptosis 32 HP:0000508
7 mandibular prognathia 32 HP:0000303
8 pectus carinatum 32 HP:0000768
9 sensorineural hearing impairment 32 HP:0000407
10 short stature 32 HP:0004322
11 delayed puberty 32 HP:0000823
12 intellectual disability, mild 32 HP:0001256
13 hypertrophic cardiomyopathy 32 HP:0001639
14 cleft palate 32 HP:0000175
15 strabismus 32 HP:0000486
16 epicanthus 32 HP:0000286
17 cryptorchidism 32 HP:0000028
18 cubitus valgus 32 HP:0002967
19 webbed neck 32 HP:0000465
20 scapular winging 32 HP:0003691
21 protruding ear 32 HP:0000411
22 third degree atrioventricular block 32 HP:0001709
23 depressed nasal ridge 32 HP:0000457
24 hypospadias 32 HP:0000047
25 bundle branch block 32 HP:0011710
26 limited elbow movement 32 HP:0002996
27 pulmonic stenosis 32 HP:0001642
28 spina bifida occulta 32 HP:0003298
29 triangular face 32 HP:0000325
30 multiple lentigines 32 HP:0001003
31 missing ribs 32 HP:0000921
32 micropenis 32 HP:0000054
33 kyphoscoliosis 32 HP:0002751
34 unilateral renal agenesis 32 HP:0000122
35 hypoplasia of the ovary 32 HP:0008724
36 subaortic stenosis 32 HP:0001682
37 posteriorly rotated ears 32 HP:0000358
38 aplasia of the ovary 32 HP:0010463
39 cafe-au-lait spot 32 HP:0000957
40 delayed menarche 32 HP:0012569
41 parietal bossing 32 HP:0000242

UMLS symptoms related to Leopard Syndrome 1:


hyposmia

Drugs & Therapeutics for Leopard Syndrome 1

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Maraviroc Approved, Investigational Phase 1 376348-65-1 3002977
2 Anti-HIV Agents Phase 1
3 Anti-Infective Agents Phase 1
4 Anti-Retroviral Agents Phase 1
5 Antiviral Agents Phase 1

Interventional clinical trials:


id Name Status NCT ID Phase
1 Safety and Pharmacokinetics of Dapivirine/Maraviroc Vaginal Ring Completed NCT01363037 Phase 1
2 Hormonal Sensitivity in Patients With Noonan and LEOPARD Syndromes Not yet recruiting NCT02486731

Search NIH Clinical Center for Leopard Syndrome 1

Genetic Tests for Leopard Syndrome 1

Genetic tests related to Leopard Syndrome 1:

id Genetic test Affiliating Genes
1 Leopard Syndrome 1 29
2 Multiple Lentigines 29

Anatomical Context for Leopard Syndrome 1

MalaCards organs/tissues related to Leopard Syndrome 1:

39
Ovary

Publications for Leopard Syndrome 1

Variations for Leopard Syndrome 1

UniProtKB/Swiss-Prot genetic disease variations for Leopard Syndrome 1:

66
id Symbol AA change Variation ID SNP ID
1 PTPN11 p.Tyr279Cys VAR_015614 rs121918456
2 PTPN11 p.Thr472Met VAR_015621 rs121918457
3 PTPN11 p.Tyr279Ser VAR_027188 rs121918456
4 PTPN11 p.Ala465Thr VAR_027190 rs121918468
5 PTPN11 p.Gly468Ala VAR_027191 rs121918469
6 PTPN11 p.Arg502Leu VAR_027192 rs397507542
7 PTPN11 p.Arg502Trp VAR_027193 rs397507541
8 PTPN11 p.Gln510Pro VAR_027194 rs397509345
9 PTPN11 p.Gln514Pro VAR_027196 rs121918470
10 PTPN11 p.Gln514Glu VAR_076499 rs397507549

ClinVar genetic disease variations for Leopard Syndrome 1:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 PTPN11 NM_002834.4(PTPN11): c.836A> G (p.Tyr279Cys) single nucleotide variant Pathogenic rs121918456 GRCh37 Chromosome 12, 112910827: 112910827
2 PTPN11 NM_002834.4(PTPN11): c.1403C> T (p.Thr468Met) single nucleotide variant Pathogenic/Likely pathogenic rs121918457 GRCh37 Chromosome 12, 112926270: 112926270
3 PTPN11 NM_002834.4(PTPN11): c.1381G> A (p.Ala461Thr) single nucleotide variant Pathogenic rs121918468 GRCh37 Chromosome 12, 112926248: 112926248
4 PTPN11 NM_002834.4(PTPN11): c.1391G> C (p.Gly464Ala) single nucleotide variant Pathogenic rs121918469 GRCh37 Chromosome 12, 112926258: 112926258
5 PTPN11 NM_002834.4(PTPN11): c.1529A> C (p.Gln510Pro) single nucleotide variant Pathogenic rs121918470 GRCh37 Chromosome 12, 112926909: 112926909
6 PTPN11 NM_002834.4(PTPN11): c.1492C> T (p.Arg498Trp) single nucleotide variant Pathogenic rs397507541 GRCh37 Chromosome 12, 112926872: 112926872
7 PTPN11 NM_002834.4(PTPN11): c.1493G> T (p.Arg498Leu) single nucleotide variant Pathogenic rs397507542 GRCh37 Chromosome 12, 112926873: 112926873
8 PTPN11 NM_002834.4(PTPN11): c.1517A> C (p.Gln506Pro) single nucleotide variant Pathogenic rs397507548 GRCh37 Chromosome 12, 112926897: 112926897
9 PTPN11 NM_002834.4(PTPN11): c.1528C> G (p.Gln510Glu) single nucleotide variant Pathogenic rs397507549 GRCh37 Chromosome 12, 112926908: 112926908
10 PTPN11 NM_002834.4(PTPN11): c.836A> C (p.Tyr279Ser) single nucleotide variant Pathogenic rs121918456 GRCh37 Chromosome 12, 112910827: 112910827

Expression for Leopard Syndrome 1

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

Pathways for Leopard Syndrome 1

GO Terms for Leopard Syndrome 1

Sources for Leopard Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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