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LPRD1
MCID: LPR012
MIFTS: 34

Leopard Syndrome 1 (LPRD1)

Categories: Cardiovascular diseases, Ear diseases, Genetic diseases, Rare diseases, Reproductive diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Leopard Syndrome 1

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MalaCards integrated aliases for Leopard Syndrome 1:

Name: Leopard Syndrome 1 58 76 30 13 6
Lprd1 58 76
Lentiginosis, Cardiomyopathic 58
Multiple Lentigines Syndrome 58
Leopard Syndrome, Type 1 41
Multiple Lentigines 74
Leopard Syndrome 74

Characteristics:

OMIM:

58
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:

33
leopard syndrome 1:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Reproductive diseases Ear diseases Cardiovascular diseases
See all MalaCards categories (disease lists)


Sources

Summaries for Leopard Syndrome 1

About this section
OMIM : 58 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 lprd1, is related to leopard syndrome and lentiginosis, inherited patterned, and has symptoms including hyposmia An important gene associated with Leopard Syndrome 1 is PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11). Affiliated tissues include ovary, heart and skin, and related phenotypes are hypertrophic cardiomyopathy and pulmonic stenosis

UniProtKB/Swiss-Prot : 76 LEOPARD syndrome 1: A disorder characterized by lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormalities of genitalia, retardation of growth, and sensorineural deafness.

Sources

Related Diseases for Leopard Syndrome 1

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Diseases in the Leopard Syndrome family:

Leopard Syndrome 1 Leopard Syndrome 2
Leopard Syndrome 3

Diseases related to Leopard Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 leopard syndrome 11.7
2 lentiginosis, inherited patterned 11.6
3 noonan syndrome with multiple lentigines 11.4
4 lentigines 10.6
5 dyschromatosis universalis hereditaria 1 9.9
6 neurofibromatosis, type i 9.9
7 neurofibromatosis, type iv, of riccardi 9.9
8 noonan syndrome 1 9.9
9 teeth, supernumerary 9.9
10 renal hypodysplasia/aplasia 1 9.9
11 neurofibromatosis-noonan syndrome 9.9
12 renal hypodysplasia/aplasia 3 9.9
13 dermatitis 9.9
14 rhabdomyosarcoma 9.9
15 pseudo-turner syndrome 9.9
16 aorto-right ventricular tunnel 9.9

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



Diseases related to Leopard Syndrome 1
Sources

Symptoms & Phenotypes for Leopard Syndrome 1

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Human phenotypes related to Leopard Syndrome 1:

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

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
ptosis
strabismus
epicanthal folds

Head And Neck Neck:
short neck
pterygium colli

Growth Weight:
short stature

Head And Neck Mouth:
cleft palate

Skeletal Spine:
kyphoscoliosis
spina bifida occulta

Head And Neck Face:
triangular face
prognathism
biparietal bossing

Genitourinary Kidneys:
unilateral renal agenesis

Neurologic Central Nervous System:
mental retardation, mild

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 Internal Genitalia Female:
absent ovary
hypoplastic ovary

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

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

Endocrine Features:
delayed puberty
late menarche

Skeletal Limbs:
cubitus valgus
limited elbow mobility

Cardiovascular Heart:
bundle branch block
subaortic stenosis
pulmonic stenosis (40%)
superior ekg axis (-60 degrees to -120 degrees)
hypertrophic cardiomyopathy (20%)
more
Head And Neck Nose:
hyposmia
broad, flat nose

Growth Other:
growth retardation

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

Genitourinary Internal Genitalia Male:
cryptorchidism (unilateral or bilateral)

Clinical features from OMIM:

151100

UMLS symptoms related to Leopard Syndrome 1:


hyposmia
Sources

Drugs & Therapeutics for Leopard Syndrome 1

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Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Hormonal Sensitivity in Patients With Noonan and LEOPARD Syndromes Unknown status NCT02486731

Search NIH Clinical Center for Leopard Syndrome 1

Sources

Genetic Tests for Leopard Syndrome 1

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Genetic tests related to Leopard Syndrome 1:

# Genetic test Affiliating Genes
1 Leopard Syndrome 1 30 PTPN11
Sources

Anatomical Context for Leopard Syndrome 1

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MalaCards organs/tissues related to Leopard Syndrome 1:

42
Ovary, Heart, Skin
Sources

Publications for Leopard Syndrome 1

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Articles related to Leopard Syndrome 1:

(show all 32)
# Title Authors Year
1
Lentiginous phenotypes caused by diverse pathogenic genes (SASH1 and PTPN11): clinical and molecular discrimination. ( 27659786 )
2016
2
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). ( 25173338 )
2014
3
Calcified aorto-right ventricular tunnel in a patient with multiple lentigines syndrome. ( 23287380 )
2013
4
Familial cases of atypical clinical features genetically diagnosed as LEOPARD syndrome (multiple lentigines syndrome). ( 20883402 )
2010
5
Functional effects of PTPN11 (SHP2) mutations causing LEOPARD syndrome on epidermal growth factor-induced phosphoinositide 3-kinase/AKT/glycogen synthase kinase 3beta signaling. ( 20308328 )
2010
6
Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome. ( 20535210 )
2010
7
Noonan syndrome: clinical features, diagnosis, and management guidelines. ( 20876176 )
2010
8
Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11. ( 15690106 )
2005
9
Two novel and one recurrent PTPN11 mutations in LEOPARD syndrome. ( 15389709 )
2004
10
Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. ( 12058348 )
2002
11
Exclusion of candidate genes and loci for multiple lentigines syndrome. ( 12190883 )
2002
12
Multiple lentigines syndrome: a comparison of normal skin and lentiginous skin by electron microscopy and immunohistochemical staining. ( 9675349 )
1998
13
Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis). ( 9222968 )
1997
14
Pigmentary anomalies in the multiple lentigines syndrome: Is it distinct from LEOPARD syndrome? ( 9122064 )
1996
15
Noonan syndrome with café-au-lait spots and multiple lentigines syndrome are not linked to the neurofibromatosis type 1 locus. ( 7586657 )
1995
16
Multiple lentigines syndrome in a Nigerian family. ( 8362457 )
1993
17
Nasopharyngeal rhabdomyosarcoma and multiple lentigines syndrome: a case report. ( 1574034 )
1992
18
The occurrence of supernumerary teeth with isolated, nonfamilial leopard (multiple lentigines) syndrome: report of case. ( 2623465 )
1989
19
Multiple lentigines syndrome in Dominica. ( 3739346 )
1986
20
Cardiopathic and electrocardiographic changes in multiple lentigines syndrome. ( 3825589 )
1986
21
The leopard (multiple lentigines) syndrome: a case report. ( 6621454 )
1983
22
Additional comments on the ulcer-multiple lentigines syndrome. ( 7065011 )
1982
23
Factitial dermatitis as the presenting sign of multiple lentigines syndrome. Therapeutic effect of autodermabrasion. ( 7065683 )
1982
24
Giant melanosomes in multiple lentigines syndrome. ( 848980 )
1977
25
Multiple lentigines syndrome. Case report and review of the literature. ( 1258892 )
1976
26
The multiple lentigines syndrome. ( 4685582 )
1973
27
Multiple lentigines syndrome. A case report of a rare familial syndrome with orthopaedic considerations. ( 4774496 )
1973
28
Lentiginosis profusa syndrome (multiple lentigines syndrome). II. Histological findings, modified Crowe's sign, and possible relationship to von Recklinghausen's disease. ( 4109279 )
1971
29
The leopard (multiple lentigines) syndrome revisited. ( 4398858 )
1971
30
Lentiginosis profusa syndrome (multiple lentigines syndrome). ( 5000391 )
1971
31
The Leopard (multiple lentigines) syndrome revisited. ( 5173334 )
1971
32
Multiple lentigines syndrome: new findings of hypogonadotrophism, hyposmia, and unilateral renal agenesis. ( 5577185 )
1971
Sources

Variations for Leopard Syndrome 1

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

76
# 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 (show top 50) (show all 72)
# Gene Variation Type Significance SNP ID Assembly Location
1 PTPN11 NM_002834.4(PTPN11): c.236A> G (p.Gln79Arg) single nucleotide variant Pathogenic rs121918466 GRCh37 Chromosome 12, 112888220: 112888220
2 PTPN11 NM_002834.4(PTPN11): c.236A> G (p.Gln79Arg) single nucleotide variant Pathogenic rs121918466 GRCh38 Chromosome 12, 112450416: 112450416
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.1381G> A (p.Ala461Thr) single nucleotide variant Pathogenic rs121918468 GRCh38 Chromosome 12, 112488444: 112488444
5 PTPN11 NM_002834.4(PTPN11): c.1391G> C (p.Gly464Ala) single nucleotide variant Pathogenic rs121918469 GRCh37 Chromosome 12, 112926258: 112926258
6 PTPN11 NM_002834.4(PTPN11): c.1391G> C (p.Gly464Ala) single nucleotide variant Pathogenic rs121918469 GRCh38 Chromosome 12, 112488454: 112488454
7 PTPN11 NM_002834.4(PTPN11): c.1529A> C (p.Gln510Pro) single nucleotide variant Pathogenic rs121918470 GRCh37 Chromosome 12, 112926909: 112926909
8 PTPN11 NM_002834.4(PTPN11): c.1529A> C (p.Gln510Pro) single nucleotide variant Pathogenic rs121918470 GRCh38 Chromosome 12, 112489105: 112489105
9 PTPN11 NM_002834.4(PTPN11): c.1678C> T (p.Leu560Phe) single nucleotide variant Likely benign rs397516797 GRCh37 Chromosome 12, 112940026: 112940026
10 PTPN11 NM_002834.4(PTPN11): c.1678C> T (p.Leu560Phe) single nucleotide variant Likely benign rs397516797 GRCh38 Chromosome 12, 112502222: 112502222
11 PTPN11 NM_002834.4(PTPN11): c.836A> C (p.Tyr279Ser) single nucleotide variant Pathogenic rs121918456 GRCh37 Chromosome 12, 112910827: 112910827
12 PTPN11 NM_002834.4(PTPN11): c.836A> C (p.Tyr279Ser) single nucleotide variant Pathogenic rs121918456 GRCh38 Chromosome 12, 112473023: 112473023
13 PTPN11 NM_002834.4(PTPN11): c.1682C> T (p.Pro561Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs141140214 GRCh38 Chromosome 12, 112502226: 112502226
14 PTPN11 NM_002834.4(PTPN11): c.1682C> T (p.Pro561Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs141140214 GRCh37 Chromosome 12, 112940030: 112940030
15 PTPN11 NM_002834.4(PTPN11): c.473G> C (p.Gly158Ala) single nucleotide variant Uncertain significance rs1555267825 GRCh37 Chromosome 12, 112891139: 112891139
16 PTPN11 NM_002834.4(PTPN11): c.473G> C (p.Gly158Ala) single nucleotide variant Uncertain significance rs1555267825 GRCh38 Chromosome 12, 112453335: 112453335
17 PTPN11 NM_002834.4(PTPN11): c.1579C> T (p.Arg527Cys) single nucleotide variant Uncertain significance rs191525506 GRCh37 Chromosome 12, 112926959: 112926959
18 PTPN11 NM_002834.4(PTPN11): c.1579C> T (p.Arg527Cys) single nucleotide variant Uncertain significance rs191525506 GRCh38 Chromosome 12, 112489155: 112489155
19 PTPN11 NM_002834.4(PTPN11): c.1599+4C> A single nucleotide variant Uncertain significance rs142606486 GRCh37 Chromosome 12, 112926983: 112926983
20 PTPN11 NM_002834.4(PTPN11): c.1599+4C> A single nucleotide variant Uncertain significance rs142606486 GRCh38 Chromosome 12, 112489179: 112489179
21 PTPN11 NM_002834.4(PTPN11): c.1507G> C (p.Gly503Arg) single nucleotide variant Pathogenic rs397507545 GRCh38 Chromosome 12, 112489083: 112489083
22 PTPN11 NM_002834.4(PTPN11): c.1507G> C (p.Gly503Arg) single nucleotide variant Pathogenic rs397507545 GRCh37 Chromosome 12, 112926887: 112926887
23 PTPN11 NM_002834.4(PTPN11): c.1493G> T (p.Arg498Leu) single nucleotide variant Pathogenic rs397507542 GRCh38 Chromosome 12, 112489069: 112489069
24 PTPN11 NM_002834.4(PTPN11): c.1493G> T (p.Arg498Leu) single nucleotide variant Pathogenic rs397507542 GRCh37 Chromosome 12, 112926873: 112926873
25 PTPN11 NM_002834.4(PTPN11): c.1492C> T (p.Arg498Trp) single nucleotide variant Pathogenic rs397507541 GRCh38 Chromosome 12, 112489068: 112489068
26 PTPN11 NM_002834.4(PTPN11): c.1492C> T (p.Arg498Trp) single nucleotide variant Pathogenic rs397507541 GRCh37 Chromosome 12, 112926872: 112926872
27 PTPN11 NM_002834.4(PTPN11): c.1048T> G (p.Ser350Ala) single nucleotide variant Uncertain significance rs146571700 GRCh38 Chromosome 12, 112477971: 112477971
28 PTPN11 NM_002834.4(PTPN11): c.1048T> G (p.Ser350Ala) single nucleotide variant Uncertain significance rs146571700 GRCh37 Chromosome 12, 112915775: 112915775
29 PTPN11 NM_002834.4(PTPN11): c.853T> C (p.Phe285Leu) single nucleotide variant Pathogenic/Likely pathogenic rs397507531 GRCh38 Chromosome 12, 112473040: 112473040
30 PTPN11 NM_002834.4(PTPN11): c.853T> C (p.Phe285Leu) single nucleotide variant Pathogenic/Likely pathogenic rs397507531 GRCh37 Chromosome 12, 112910844: 112910844
31 PTPN11 NM_002834.4(PTPN11): c.417G> C (p.Glu139Asp) single nucleotide variant Pathogenic rs397507520 GRCh38 Chromosome 12, 112453279: 112453279
32 PTPN11 NM_002834.4(PTPN11): c.417G> C (p.Glu139Asp) single nucleotide variant Pathogenic rs397507520 GRCh37 Chromosome 12, 112891083: 112891083
33 PTPN11 NM_002834.4(PTPN11): c.228G> T (p.Glu76Asp) single nucleotide variant Pathogenic rs397507514 GRCh38 Chromosome 12, 112450408: 112450408
34 PTPN11 NM_002834.4(PTPN11): c.228G> T (p.Glu76Asp) single nucleotide variant Pathogenic rs397507514 GRCh37 Chromosome 12, 112888212: 112888212
35 PTPN11 NM_002834.4(PTPN11): c.181G> A (p.Asp61Asn) single nucleotide variant Pathogenic rs397507510 GRCh38 Chromosome 12, 112450361: 112450361
36 PTPN11 NM_002834.4(PTPN11): c.181G> A (p.Asp61Asn) single nucleotide variant Pathogenic rs397507510 GRCh37 Chromosome 12, 112888165: 112888165
37 PTPN11 NM_002834.4(PTPN11): c.174C> G (p.Asn58Lys) single nucleotide variant Pathogenic/Likely pathogenic rs397507506 GRCh38 Chromosome 12, 112450354: 112450354
38 PTPN11 NM_002834.4(PTPN11): c.174C> G (p.Asn58Lys) single nucleotide variant Pathogenic/Likely pathogenic rs397507506 GRCh37 Chromosome 12, 112888158: 112888158
39 PTPN11 NM_002834.4(PTPN11): c.172A> G (p.Asn58Asp) single nucleotide variant Pathogenic rs397507505 GRCh38 Chromosome 12, 112450352: 112450352
40 PTPN11 NM_002834.4(PTPN11): c.172A> G (p.Asn58Asp) single nucleotide variant Pathogenic rs397507505 GRCh37 Chromosome 12, 112888156: 112888156
41 PTPN11 NM_002834.4(PTPN11): c.218C> T (p.Thr73Ile) single nucleotide variant Pathogenic rs121918462 GRCh38 Chromosome 12, 112450398: 112450398
42 PTPN11 NM_002834.4(PTPN11): c.218C> T (p.Thr73Ile) single nucleotide variant Pathogenic rs121918462 GRCh37 Chromosome 12, 112888202: 112888202
43 PTPN11 NM_002834.4(PTPN11): c.188A> G (p.Tyr63Cys) single nucleotide variant Pathogenic rs121918459 GRCh38 Chromosome 12, 112450368: 112450368
44 PTPN11 NM_002834.4(PTPN11): c.1403C> T (p.Thr468Met) single nucleotide variant Pathogenic rs121918457 GRCh38 Chromosome 12, 112488466: 112488466
45 PTPN11 NM_002834.4(PTPN11): c.1403C> T (p.Thr468Met) single nucleotide variant Pathogenic rs121918457 GRCh37 Chromosome 12, 112926270: 112926270
46 PTPN11 NM_002834.4(PTPN11): c.184T> G (p.Tyr62Asp) single nucleotide variant Pathogenic rs121918460 GRCh38 Chromosome 12, 112450364: 112450364
47 PTPN11 NM_002834.4(PTPN11): c.188A> G (p.Tyr63Cys) single nucleotide variant Pathogenic rs121918459 GRCh37 Chromosome 12, 112888172: 112888172
48 PTPN11 NM_002834.4(PTPN11): c.184T> G (p.Tyr62Asp) single nucleotide variant Pathogenic rs121918460 GRCh37 Chromosome 12, 112888168: 112888168
49 PTPN11 NM_002834.4(PTPN11): c.836A> G (p.Tyr279Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121918456 GRCh38 Chromosome 12, 112473023: 112473023
50 PTPN11 NM_002834.4(PTPN11): c.836A> G (p.Tyr279Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121918456 GRCh37 Chromosome 12, 112910827: 112910827
Sources

Expression for Leopard Syndrome 1

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

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Sources

GO Terms for Leopard Syndrome 1

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Sources for Leopard Syndrome 1

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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