MCID: LPR012
MIFTS: 33

Leopard Syndrome 1

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

Aliases & Classifications for Leopard Syndrome 1

MalaCards integrated aliases for Leopard Syndrome 1:

Name: Leopard Syndrome 1 54 71 29 13
Multiple Lentigines 29 69
Leopard Syndrome 69
Lprd1 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
leopard is an acronym: lentigines, ekg abnormalities, ocular hypertelorism, obstructive cardiomyopathy, pulmonic stenosis, abnormalities of genitalia, retardation of growth, and deafness
allelic to noonan syndrome


HPO:

32
leopard syndrome 1:
Inheritance autosomal dominant inheritance


Classifications:



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, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness. (151100)

MalaCards based summary : Leopard Syndrome 1, also known as multiple lentigines, is related to noonan syndrome with multiple lentigines and leopard syndrome, and has symptoms including short stature, strabismus and ptosis. An important gene associated with Leopard Syndrome 1 is PTPN11 (Protein Tyrosine Phosphatase, Non-Receptor Type 11). Affiliated tissues include ovary and heart.

UniProtKB/Swiss-Prot : 71 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

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 via clinical synopsis from OMIM:

54

Growth- Weight:
short stature

Growth- Other:
growth retardation

Head And Neck- Mouth:
cleft palate

Chest- Ribs Sternum Clavicles And Scapulae:
pectus carinatum
pectus excavatum
absent ribs
winged scapulae

Endocrine Features:
delayed puberty
late menarche

Head And Neck- Face:
triangular face
prognathism
biparietal bossing

Genitourinary- External Genitalia Male:
small penis
hypospadias (50%)

Neurologic- Central Nervous System:
mental retardation, mild

Head And Neck- Nose:
hyposmia
broad, flat nose

Genitourinary- Internal Genitalia Female:
absent ovary
hypoplastic ovary

Head And Neck- Eyes:
strabismus
ptosis
epicanthal folds
hypertelorism

Head And Neck- Ears:
low-set ears
posteriorly rotated ears
sensorineural hearing loss
prominent ears

Skeletal- Spine:
kyphoscoliosis
spina bifida occulta

Head And Neck- Neck:
short neck
pterygium colli

Skin Nails & Hair- Skin:
cafe-au-lait spots
1-5mm dark lentigines (especially neck and trunk)
lentigines may be absent
lentigines may be congenital or develop in first months to years of life
cafe-noir spots (trunk)

Genitourinary- Kidneys:
unilateral renal agenesis

Skeletal- Limbs:
limited elbow mobility
cubitus valgus

Cardiovascular- Heart:
subaortic stenosis
pulmonic stenosis (40%)
superior ekg axis (-60 degrees to -120 degrees)
hypertrophic cardiomyopathy (20%)
complete heart block
more
Genitourinary- Internal Genitalia Male:
cryptorchidism (unilateral or bilateral)


Clinical features from OMIM:

151100

Human phenotypes related to Leopard Syndrome 1:

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

UMLS symptoms related to Leopard Syndrome 1:


hyposmia

Drugs & Therapeutics for Leopard Syndrome 1

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 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, Heart

Publications for Leopard Syndrome 1

Variations for Leopard Syndrome 1

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

71
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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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