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LPRD1
MCID: LPR012
MIFTS: 38

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
Multiple Lentigines 30 74
Lprd1 58 76
Lentiginosis, Cardiomyopathic 58
Multiple Lentigines Syndrome 58
Leopard Syndrome, Type 1 41
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 multiple lentigines, is related to gastrocutaneous syndrome and leopard syndrome, 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 32)
# Related Disease Score Top Affiliating Genes
1 gastrocutaneous syndrome 11.9
2 leopard syndrome 11.7
3 lentiginosis, inherited patterned 11.5
4 noonan syndrome with multiple lentigines 11.4
5 lentigines 10.6
6 hypertrophic cardiomyopathy 10.1
7 neuropathy 10.0
8 psoriasis 10.0
9 neurofibromatosis, type i 9.9
10 neurofibromatosis, type iv, of riccardi 9.9
11 noonan syndrome 1 9.9
12 teeth, supernumerary 9.9
13 renal hypodysplasia/aplasia 1 9.9
14 renal hypodysplasia/aplasia 3 9.9
15 dermatitis 9.9
16 rhabdomyosarcoma 9.9
17 pseudo-turner syndrome 9.9
18 aorto-right ventricular tunnel 9.9
19 hernia, hiatus 9.8
20 hypertelorism 9.8
21 mastocytosis, cutaneous 9.8
22 testicular microlithiasis 9.8
23 al kaissi syndrome 9.8
24 alopecia 9.8
25 craniosynostosis 9.8
26 myopia 9.8
27 urticaria 9.8
28 keratosis 9.8
29 granular cell tumor 9.8
30 lipomatosis 9.8
31 peptic ulcer disease 9.8
32 fixed drug eruption 9.8

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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Search Clinical Trials , 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
2 Multiple Lentigines 30
Sources

Anatomical Context for Leopard Syndrome 1

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MalaCards organs/tissues related to Leopard Syndrome 1:

42
Ovary, Heart, Skin, Bone
Sources

Publications for Leopard Syndrome 1

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Articles related to Leopard Syndrome 1:

(show top 50) (show all 67)
# Title Authors Year
1
Multiple Lentigines Arising in Sites of Resolving Psoriatic Plaques after Treatment with Ustekinumab. ( 29853759 )
2018
2
Multiple lentigines arising on resolving psoriatic plaques after treatment with apremilast. ( 29926507 )
2018
3
Noonan syndrome with multiple lentigines and associated craniosynostosis. ( 29356064 )
2018
4
Importance of cardiovascular examination in patients with multiple lentigines: two cases of LEOPARD syndrome with hypertrophic cardiomyopathy. ( 29717636 )
2018
5
Lentigines within fixed drug eruption: reply to 'Multiple lentigines arising on resolving psoriatic plaques after treatment with apremilast'. ( 30575106 )
2018
6
Widespread keratosis pilaris in a patient with Noonan syndrome with multiple lentigines. ( 30152106 )
2018
7
Generation of an induced pluripotent stem cell line (TRNDi003-A) from a Noonan syndrome with multiple lentigines (NSML) patient carrying a p.Q510P mutation in the PTPN11 gene. ( 30640061 )
2018
8
A Novel De novo Mutation of the SASH1 Gene in a Chinese Family with Multiple Lentigines. ( 27840890 )
2017
9
In vivo efficacy of the AKT inhibitor ARQ 092 in Noonan Syndrome with multiple lentigines-associated hypertrophic cardiomyopathy. ( 28582432 )
2017
10
Heterozygous deletion of AKT1 rescues cardiac contractility, but not hypertrophy, in a mouse model of Noonan Syndrome with Multiple Lentigines. ( 28911943 )
2017
11
Noonan syndrome with multiple lentigines with PTPN11 (T468M) gene mutation accompanied with solitary granular cell tumor. ( 28681392 )
2017
12
Cochlear implantation and clinical features in patients with Noonan syndrome and Noonan syndrome with multiple lentigines caused by a mutation in PTPN11. ( 28483241 )
2017
13
Multiple giant cell lesions in a patient with Noonan syndrome with multiple lentigines. ( 27238887 )
2016
14
Developmental SHP2 dysfunction underlies cardiac hypertrophy in Noonan syndrome with multiple lentigines. ( 27348588 )
2016
15
Hypertrophic neuropathy in Noonan syndrome with multiple lentigines. ( 26952712 )
2016
16
Elevated calcium transients and increased myofibrillar power generation cause cardiac hypercontractility in a model of Noonan Syndrome with Multiple Lentigines. ( 25724491 )
2015
17
Paraspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with multiple lentigines. ( 26337637 )
2015
18
Rapidly progressive hypertrophic cardiomyopathy in an infant with Noonan syndrome with multiple lentigines: Palliative treatment with a rapamycin analog. ( 25708222 )
2015
19
Pathogenesis of Multiple Lentigines in LEOPARD Syndrome with PTPN11 Gene Mutation. ( 25917897 )
2015
20
Multiple lentigines confined to psoriatic plaques induced by biologic agents in psoriasis therapy: a case and review of the literature. ( 25806714 )
2015
21
A novel heterozygous MAP2K1 mutation in a patient with Noonan syndrome with multiple lentigines. ( 25423878 )
2015
22
Multiple lentigines in psoriasis patients treated with etanercept. ( 26065690 )
2015
23
Multiple lentigines in areas of resolving psoriatic plaques after ustekinumab therapy. ( 24746301 )
2014
24
Calcified aorto-right ventricular tunnel in a patient with multiple lentigines syndrome. ( 23287380 )
2013
25
Extensive abdominal lipomatosis in a patient with Noonan/LEOPARD syndrome (Noonan syndrome-Multiple Lentigines). ( 22528600 )
2012
26
Familial cases of atypical clinical features genetically diagnosed as LEOPARD syndrome (multiple lentigines syndrome). ( 20883402 )
2010
27
Multiple lentigines confined to a resolving psoriatic plaque. ( 19951633 )
2009
28
Multiple lentigines confined to resolving psoriatic plaques in a patient treated with adalimumab. ( 18216489 )
2008
29
Multiple lentigines arising in resolving psoriatic plaques after treatment with etanercept. ( 18319028 )
2008
30
Flexural pigmentation with multiple lentigines: a new primary pigmentary disorder? ( 16433819 )
2006
31
A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndrome. ( 15470362 )
2004
32
Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome. ( 15121796 )
2004
33
Congenital triangular alopecia in association with congenital heart diseases, bone and teeth abnormalities, multiple lentigines and café-au-lait patches. ( 15117369 )
2004
34
Genetic heterogeneity in the multiple lentigines/LEOPARD/Noonan syndromes. ( 15150790 )
2004
35
Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. ( 12058348 )
2002
36
Exclusion of candidate genes and loci for multiple lentigines syndrome. ( 12190883 )
2002
37
Multiple lentigines associated with cutaneous myxomas. ( 11174387 )
2001
38
Multiple lentigines and testicular microlithiasis. ( 11167985 )
2000
39
Multiple lentigines clearing in resolving psoriatic plaques. ( 10354187 )
1999
40
Multiple lentigines: a case with new associations. ( 10742741 )
1999
41
Multiple lentigines syndrome: a comparison of normal skin and lentiginous skin by electron microscopy and immunohistochemical staining. ( 9675349 )
1998
42
Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis). ( 9222968 )
1997
43
Pigmentary anomalies in the multiple lentigines syndrome: Is it distinct from LEOPARD syndrome? ( 9122064 )
1996
44
Multiple lentigines (Leopard) syndrome with Chiara I malformation. ( 7560446 )
1995
45
Noonan syndrome with cafAc-au-lait spots and multiple lentigines syndrome are not linked to the neurofibromatosis type 1 locus. ( 7586657 )
1995
46
Multiple lentigines confined to a resolving psoriatic plaque, treated without phototherapy. ( 8593731 )
1995
47
Multiple lentigines confined to psoriatic plaques. ( 7955492 )
1994
48
Multiple lentigines syndrome in a Nigerian family. ( 8362457 )
1993
49
Multiple lentigines, myxoid tumours and endocrine overactivity; four cases of Carney's complex. ( 1571257 )
1992
50
Nasopharyngeal rhabdomyosarcoma and multiple lentigines syndrome: a case report. ( 1574034 )
1992
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 58)
# Gene Variation Type Significance SNP ID Assembly Location
1 PTPN11 NM_002834.4(PTPN11): c.1682C> T (p.Pro561Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs141140214 GRCh37 Chromosome 12, 112940030: 112940030
2 PTPN11 NM_002834.4(PTPN11): c.1682C> T (p.Pro561Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs141140214 GRCh38 Chromosome 12, 112502226: 112502226
3 PTPN11 NM_002834.4(PTPN11): c.214G> T (p.Ala72Ser) single nucleotide variant Pathogenic rs121918453 GRCh37 Chromosome 12, 112888198: 112888198
4 PTPN11 NM_002834.4(PTPN11): c.214G> T (p.Ala72Ser) single nucleotide variant Pathogenic rs121918453 GRCh38 Chromosome 12, 112450394: 112450394
5 PTPN11 NM_002834.4(PTPN11): c.215C> G (p.Ala72Gly) single nucleotide variant Pathogenic rs121918454 GRCh37 Chromosome 12, 112888199: 112888199
6 PTPN11 NM_002834.4(PTPN11): c.215C> G (p.Ala72Gly) single nucleotide variant Pathogenic rs121918454 GRCh38 Chromosome 12, 112450395: 112450395
7 PTPN11 NM_002834.4(PTPN11): c.922A> G (p.Asn308Asp) single nucleotide variant Pathogenic rs28933386 GRCh37 Chromosome 12, 112915523: 112915523
8 PTPN11 NM_002834.4(PTPN11): c.922A> G (p.Asn308Asp) single nucleotide variant Pathogenic rs28933386 GRCh38 Chromosome 12, 112477719: 112477719
9 PTPN11 NM_002834.4(PTPN11): c.923A> G (p.Asn308Ser) single nucleotide variant Pathogenic rs121918455 GRCh37 Chromosome 12, 112915524: 112915524
10 PTPN11 NM_002834.4(PTPN11): c.923A> G (p.Asn308Ser) single nucleotide variant Pathogenic rs121918455 GRCh38 Chromosome 12, 112477720: 112477720
11 PTPN11 NM_002834.4(PTPN11): c.836A> G (p.Tyr279Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121918456 GRCh37 Chromosome 12, 112910827: 112910827
12 PTPN11 NM_002834.4(PTPN11): c.836A> G (p.Tyr279Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121918456 GRCh38 Chromosome 12, 112473023: 112473023
13 PTPN11 NM_002834.4(PTPN11): c.1403C> T (p.Thr468Met) single nucleotide variant Pathogenic rs121918457 GRCh37 Chromosome 12, 112926270: 112926270
14 PTPN11 NM_002834.4(PTPN11): c.1403C> T (p.Thr468Met) single nucleotide variant Pathogenic rs121918457 GRCh38 Chromosome 12, 112488466: 112488466
15 PTPN11 NM_002834.4(PTPN11): c.188A> G (p.Tyr63Cys) single nucleotide variant Pathogenic rs121918459 GRCh37 Chromosome 12, 112888172: 112888172
16 PTPN11 NM_002834.4(PTPN11): c.188A> G (p.Tyr63Cys) single nucleotide variant Pathogenic rs121918459 GRCh38 Chromosome 12, 112450368: 112450368
17 PTPN11 NM_002834.4(PTPN11): c.218C> T (p.Thr73Ile) single nucleotide variant Pathogenic rs121918462 GRCh37 Chromosome 12, 112888202: 112888202
18 PTPN11 NM_002834.4(PTPN11): c.218C> T (p.Thr73Ile) single nucleotide variant Pathogenic rs121918462 GRCh38 Chromosome 12, 112450398: 112450398
19 PTPN11 NM_002834.4(PTPN11): c.236A> G (p.Gln79Arg) single nucleotide variant Pathogenic rs121918466 GRCh37 Chromosome 12, 112888220: 112888220
20 PTPN11 NM_002834.4(PTPN11): c.236A> G (p.Gln79Arg) single nucleotide variant Pathogenic rs121918466 GRCh38 Chromosome 12, 112450416: 112450416
21 PTPN11 NM_002834.4(PTPN11): c.1381G> A (p.Ala461Thr) single nucleotide variant Pathogenic rs121918468 GRCh37 Chromosome 12, 112926248: 112926248
22 PTPN11 NM_002834.4(PTPN11): c.1381G> A (p.Ala461Thr) single nucleotide variant Pathogenic rs121918468 GRCh38 Chromosome 12, 112488444: 112488444
23 PTPN11 NM_002834.4(PTPN11): c.1391G> C (p.Gly464Ala) single nucleotide variant Pathogenic rs121918469 GRCh37 Chromosome 12, 112926258: 112926258
24 PTPN11 NM_002834.4(PTPN11): c.1391G> C (p.Gly464Ala) single nucleotide variant Pathogenic rs121918469 GRCh38 Chromosome 12, 112488454: 112488454
25 PTPN11 NM_002834.4(PTPN11): c.1529A> C (p.Gln510Pro) single nucleotide variant Pathogenic rs121918470 GRCh37 Chromosome 12, 112926909: 112926909
26 PTPN11 NM_002834.4(PTPN11): c.1529A> C (p.Gln510Pro) single nucleotide variant Pathogenic rs121918470 GRCh38 Chromosome 12, 112489105: 112489105
27 PTPN11 NM_002834.4(PTPN11): c.174C> G (p.Asn58Lys) single nucleotide variant Pathogenic/Likely pathogenic rs397507506 GRCh37 Chromosome 12, 112888158: 112888158
28 PTPN11 NM_002834.4(PTPN11): c.174C> G (p.Asn58Lys) single nucleotide variant Pathogenic/Likely pathogenic rs397507506 GRCh38 Chromosome 12, 112450354: 112450354
29 PTPN11 NM_002834.4(PTPN11): c.181G> A (p.Asp61Asn) single nucleotide variant Pathogenic rs397507510 GRCh37 Chromosome 12, 112888165: 112888165
30 PTPN11 NM_002834.4(PTPN11): c.181G> A (p.Asp61Asn) single nucleotide variant Pathogenic rs397507510 GRCh38 Chromosome 12, 112450361: 112450361
31 PTPN11 NM_002834.4(PTPN11): c.417G> C (p.Glu139Asp) single nucleotide variant Pathogenic rs397507520 GRCh37 Chromosome 12, 112891083: 112891083
32 PTPN11 NM_002834.4(PTPN11): c.417G> C (p.Glu139Asp) single nucleotide variant Pathogenic rs397507520 GRCh38 Chromosome 12, 112453279: 112453279
33 PTPN11 NM_002834.4(PTPN11): c.1492C> T (p.Arg498Trp) single nucleotide variant Pathogenic rs397507541 GRCh37 Chromosome 12, 112926872: 112926872
34 PTPN11 NM_002834.4(PTPN11): c.1492C> T (p.Arg498Trp) single nucleotide variant Pathogenic rs397507541 GRCh38 Chromosome 12, 112489068: 112489068
35 PTPN11 NM_002834.4(PTPN11): c.1493G> T (p.Arg498Leu) single nucleotide variant Pathogenic rs397507542 GRCh37 Chromosome 12, 112926873: 112926873
36 PTPN11 NM_002834.4(PTPN11): c.1493G> T (p.Arg498Leu) single nucleotide variant Pathogenic rs397507542 GRCh38 Chromosome 12, 112489069: 112489069
37 PTPN11 NM_002834.4(PTPN11): c.1507G> C (p.Gly503Arg) single nucleotide variant Pathogenic rs397507545 GRCh37 Chromosome 12, 112926887: 112926887
38 PTPN11 NM_002834.4(PTPN11): c.1507G> C (p.Gly503Arg) single nucleotide variant Pathogenic rs397507545 GRCh38 Chromosome 12, 112489083: 112489083
39 PTPN11 NM_002834.4(PTPN11): c.1508G> A (p.Gly503Glu) single nucleotide variant Pathogenic/Likely pathogenic rs397507546 GRCh37 Chromosome 12, 112926888: 112926888
40 PTPN11 NM_002834.4(PTPN11): c.1508G> A (p.Gly503Glu) single nucleotide variant Pathogenic/Likely pathogenic rs397507546 GRCh38 Chromosome 12, 112489084: 112489084
41 PTPN11 NM_002834.4(PTPN11): c.1517A> C (p.Gln506Pro) single nucleotide variant Pathogenic rs397507548 GRCh37 Chromosome 12, 112926897: 112926897
42 PTPN11 NM_002834.4(PTPN11): c.1517A> C (p.Gln506Pro) single nucleotide variant Pathogenic rs397507548 GRCh38 Chromosome 12, 112489093: 112489093
43 PTPN11 NM_002834.4(PTPN11): c.1528C> G (p.Gln510Glu) single nucleotide variant Pathogenic rs397507549 GRCh37 Chromosome 12, 112926908: 112926908
44 PTPN11 NM_002834.4(PTPN11): c.1528C> G (p.Gln510Glu) single nucleotide variant Pathogenic rs397507549 GRCh38 Chromosome 12, 112489104: 112489104
45 PTPN11 NM_002834.4(PTPN11): c.1530G> C (p.Gln510His) single nucleotide variant Pathogenic rs397507550 GRCh37 Chromosome 12, 112926910: 112926910
46 PTPN11 NM_002834.4(PTPN11): c.1530G> C (p.Gln510His) single nucleotide variant Pathogenic rs397507550 GRCh38 Chromosome 12, 112489106: 112489106
47 PTPN11 NM_002834.4(PTPN11): c.1658C> T (p.Thr553Met) single nucleotide variant Benign rs148176616 GRCh37 Chromosome 12, 112940006: 112940006
48 PTPN11 NM_002834.4(PTPN11): c.1658C> T (p.Thr553Met) single nucleotide variant Benign rs148176616 GRCh38 Chromosome 12, 112502202: 112502202
49 PTPN11 NM_002834.4(PTPN11): c.1678C> T (p.Leu560Phe) single nucleotide variant Likely benign rs397516797 GRCh37 Chromosome 12, 112940026: 112940026
50 PTPN11 NM_002834.4(PTPN11): c.1678C> T (p.Leu560Phe) single nucleotide variant Likely benign rs397516797 GRCh38 Chromosome 12, 112502222: 112502222
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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