LPRD1
MCID: LPR012
MIFTS: 42

Leopard Syndrome 1 (LPRD1)

Categories: Cardiovascular diseases, Ear diseases, Genetic diseases, Reproductive diseases
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Aliases & Classifications for Leopard Syndrome 1

MalaCards integrated aliases for Leopard Syndrome 1:

Name: Leopard Syndrome 1 57 11 73 28 12 5 36
Noonan Syndrome with Multiple Lentigines 1 11 14
Lprd1 57 73
Lentiginosis, Cardiomyopathic 57
Multiple Lentigines Syndrome 57
Leopard Syndrome, Type 1 38
Multiple Lentigines 71
Leopard Syndrome 71

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
leopard is an acronym: lentigines, ekg abnormalities, ocular hypertelorism, obstructive cardiomyopathy, pulmonic stenosis, abnormalities of genitalia, retardation of growth, and deafness
lentigines may be absent
lentigines may be congenital or develop in first months to years of life


Classifications:



Summaries for Leopard Syndrome 1

OMIM®: 57 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) (Updated 08-Dec-2022)

MalaCards based summary: Leopard Syndrome 1, also known as noonan syndrome with multiple lentigines 1, is related to noonan syndrome 1 and noonan syndrome with multiple lentigines, and has symptoms including hyposmia An important gene associated with Leopard Syndrome 1 is PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11), and among its related pathways/superpathways is Interleukin-37 signaling. Affiliated tissues include ovary, heart and skin, and related phenotypes are hypertrophic cardiomyopathy and pulmonic stenosis

UniProtKB/Swiss-Prot: 73 A disorder characterized by lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormalities of genitalia, retardation of growth, and sensorineural deafness.

Disease Ontology: 11 A Noonan syndrome with multiple lentigines that has material basis in heterozygous mutation in the PTPN11 gene on chromosome 12q24.

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

Human phenotypes related to Leopard Syndrome 1:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Eyes:
ptosis
hypertelorism
strabismus
epicanthal folds

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

Endocrine Features:
delayed puberty
late menarche

Skeletal Limbs:
cubitus valgus
limited elbow mobility

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
lentigines, 1-5mm, dark (especially neck and trunk)
cafe-noir spots (trunk)

Genitourinary Internal Genitalia Female:
absent ovary
hypoplastic ovary

Head And Neck Neck:
short neck
pterygium colli

Growth Weight:
short stature

Head And Neck Mouth:
cleft palate

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

Cardiovascular Heart:
bundle branch block
pulmonic stenosis (40%)
superior ekg axis (-60 degrees to -120 degrees)
hypertrophic cardiomyopathy (20%)
subaortic stenosis
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 (Updated 08-Dec-2022)

UMLS symptoms related to Leopard Syndrome 1:


hyposmia

Drugs & Therapeutics for Leopard Syndrome 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Consequences of Noonan Syndrome/LEOPARD Syndrome Associated Shp2 Mutations on Different Signaling Pathways Activation: Relationship With Hormonal Sensitivity Completed NCT02486731
2 Investigation Into the Natural History and Metabolic and Molecular Basis of RASopathies. Recruiting NCT04395495

Search NIH Clinical Center for Leopard Syndrome 1

Genetic Tests for Leopard Syndrome 1

Genetic tests related to Leopard Syndrome 1:

# Genetic test Affiliating Genes
1 Leopard Syndrome 1 28 PTPN11

Anatomical Context for Leopard Syndrome 1

Organs/tissues related to Leopard Syndrome 1:

MalaCards : Ovary, Heart, Skin, Testis, Kidney
ODiseA: Testis, Heart-Atrium, Heart-Ventricle, Heart, Skin, Kidney

Publications for Leopard Syndrome 1

Articles related to Leopard Syndrome 1:

(show top 50) (show all 95)
# Title Authors PMID Year
1
Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome. 57 5
20535210 2010
2
Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11. 57 5
15690106 2005
3
Two novel and one recurrent PTPN11 mutations in LEOPARD syndrome. 57 5
15389709 2004
4
Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. 57 5
12058348 2002
5
Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis). 62 57
9222968 1997
6
Noonan syndrome with café-au-lait spots and multiple lentigines syndrome are not linked to the neurofibromatosis type 1 locus. 62 57
7586657 1995
7
Giant melanosomes in multiple lentigines syndrome. 62 57
848980 1977
8
Multiple lentigines syndrome. Case report and review of the literature. 62 57
1258892 1976
9
Lentiginosis profusa syndrome (multiple lentigines syndrome). 62 57
5000391 1971
10
Multiple lentigines syndrome: new findings of hypogonadotrophism, hyposmia, and unilateral renal agenesis. 62 57
5577185 1971
11
Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders. 5
34008892 2021
12
Novel mutations and their genotype-phenotype correlations in patients with Noonan syndrome, using next-generation sequencing. 5
28957739 2018
13
Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype. 5
28650561 2017
14
Cochlear implantation and clinical features in patients with Noonan syndrome and Noonan syndrome with multiple lentigines caused by a mutation in PTPN11. 5
28483241 2017
15
Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients. 5
27521173 2016
16
Lentiginous phenotypes caused by diverse pathogenic genes (SASH1 and PTPN11): clinical and molecular discrimination. 5
27659786 2016
17
De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies. 5
26785492 2015
18
[Arnold-Chiari malformation in Noonan syndrome and other syndromes of the RAS/MAPK pathway]. 5
25912702 2015
19
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations. 5
24803665 2014
20
Structural insights into Noonan/LEOPARD syndrome-related mutants of protein-tyrosine phosphatase SHP2 (PTPN11). 5
24628801 2014
21
Age-dependent germline mosaicism of the most common noonan syndrome mutation shows the signature of germline selection. 5
23726368 2013
22
Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation. 5
21407260 2011
23
Lethal presentation of neurofibromatosis and Noonan syndrome. 5
21567923 2011
24
Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype? 5
21340158 2010
25
Functional effects of PTPN11 (SHP2) mutations causing LEOPARD syndrome on epidermal growth factor-induced phosphoinositide 3-kinase/AKT/glycogen synthase kinase 3beta signaling. 5
20308328 2010
26
Negative regulation of Stat3 by activating PTPN11 mutants contributes to the pathogenesis of Noonan syndrome and juvenile myelomonocytic leukemia. 5
19509418 2009
27
IMAGE CARDIO MED. A patient with LEOPARD syndrome and PTPN11 mutation. 57
19273734 2009
28
Multiple granular cell tumors are an associated feature of LEOPARD syndrome caused by mutation in PTPN11. 57
19054014 2009
29
Hepatoblastoma in a Noonan syndrome patient with a PTPN11 mutation. 5
18253957 2008
30
Genotype-phenotype analysis and natural history of left ventricular hypertrophy in LEOPARD syndrome. 57
18241070 2008
31
LEOPARD syndrome: clinical diagnosis in the first year of life. 57
16523510 2006
32
PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects. 57
16377799 2006
33
Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. 57
16358218 2006
34
Transgenic Drosophila models of Noonan syndrome causing PTPN11 gain-of-function mutations. 5
16399795 2006
35
Diverse biochemical properties of Shp2 mutants. Implications for disease phenotypes. 5
15987685 2005
36
PTPN11 mutations are associated with mild growth hormone resistance in individuals with Noonan syndrome. 5
15985475 2005
37
Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation. 5
14974085 2004
38
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 5
11704759 2001
39
Leopard syndrome. 57
10551509 1999
40
Neurofibromatosis type I gene mutation in a patient with features of LEOPARD syndrome. 57
8807336 1996
41
LEOPARD syndrome: death because of chronic respiratory insufficiency. 57
2260561 1990
42
[Hypertrophic cardiomyopathy and lentiginosis]. 57
6539946 1984
43
Hypertrophic obstructive cardiomyopathy and lentiginosis: a little known neural ectodermal syndrome. 57
7193405 1981
44
Cardio-cutaneous syndrome (the "LEOPARD" syndrome). Review of the literature and a new family. 57
1261064 1976
45
Giant and "granular melanosomes" in Leopard syndrome: an ultrastructural study. 57
1018060 1976
46
Progressive cardiomyopathic lentiginosis. 57
4672553 1972
47
A family study of the leopard syndrome. 57
5581024 1971
48
'Little leopard' syndrome. Description of 3 cases and review of 24. 57
4995347 1971
49
Congenital deafness and multiple lentigines. A report of cases in a mother and daughter. 57
5797963 1969
50
Multiple lentigenes syndrome. 57
5771505 1969

Variations for Leopard Syndrome 1

ClinVar genetic disease variations for Leopard Syndrome 1:

5 (show top 50) (show all 136)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PTPN11 NM_002834.5(PTPN11):c.663A>G (p.Ile221Met) SNV Pathogenic
981584 GRCh37: 12:112893774-112893774
GRCh38: 12:112455970-112455970
2 PTPN11 NM_002834.5(PTPN11):c.1382C>G (p.Ala461Gly) SNV Pathogenic
55798 rs397509344 GRCh37: 12:112926249-112926249
GRCh38: 12:112488445-112488445
3 PTPN11 NM_002834.5(PTPN11):c.174C>G (p.Asn58Lys) SNV Pathogenic
40489 rs397507506 GRCh37: 12:112888158-112888158
GRCh38: 12:112450354-112450354
4 PTPN11 NM_002834.5(PTPN11):c.1529A>C (p.Gln510Pro) SNV Pathogenic
Pathogenic
13344 rs121918470 GRCh37: 12:112926909-112926909
GRCh38: 12:112489105-112489105
5 PTPN11 NM_002834.5(PTPN11):c.1381G>A (p.Ala461Thr) SNV Pathogenic
13342 rs121918468 GRCh37: 12:112926248-112926248
GRCh38: 12:112488444-112488444
6 PTPN11 NM_002834.5(PTPN11):c.1391G>C (p.Gly464Ala) SNV Pathogenic
13343 rs121918469 GRCh37: 12:112926258-112926258
GRCh38: 12:112488454-112488454
7 PTPN11 NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) SNV Pathogenic
Pathogenic
13331 rs121918457 GRCh37: 12:112926270-112926270
GRCh38: 12:112488466-112488466
8 PTPN11 NM_002834.5(PTPN11):c.1492C>T (p.Arg498Trp) SNV Pathogenic
40553 rs397507541 GRCh37: 12:112926872-112926872
GRCh38: 12:112489068-112489068
9 PTPN11 NM_002834.5(PTPN11):c.1381G>T (p.Ala461Ser) SNV Pathogenic
40546 rs121918468 GRCh37: 12:112926248-112926248
GRCh38: 12:112488444-112488444
10 PTPN11 NM_002834.5(PTPN11):c.1493G>T (p.Arg498Leu) SNV Pathogenic
40554 rs397507542 GRCh37: 12:112926873-112926873
GRCh38: 12:112489069-112489069
11 PTPN11 NM_002834.5(PTPN11):c.228G>T (p.Glu76Asp) SNV Pathogenic
40502 rs397507514 GRCh37: 12:112888212-112888212
GRCh38: 12:112450408-112450408
12 PTPN11 NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) SNV Pathogenic
Pathogenic
13328 rs121918456 GRCh37: 12:112910827-112910827
GRCh38: 12:112473023-112473023
13 PTPN11 NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) SNV Pathogenic
13340 rs121918466 GRCh37: 12:112888220-112888220
GRCh38: 12:112450416-112450416
14 PTPN11 NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) SNV Pathogenic
Pathogenic
13333 rs121918459 GRCh37: 12:112888172-112888172
GRCh38: 12:112450368-112450368
15 PTPN11 NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) SNV Pathogenic
Pathogenic
Pathogenic
13327 rs121918455 GRCh37: 12:112915524-112915524
GRCh38: 12:112477720-112477720
16 PTPN11 NM_002834.5(PTPN11):c.181G>A (p.Asp61Asn) SNV Pathogenic
40495 rs397507510 GRCh37: 12:112888165-112888165
GRCh38: 12:112450361-112450361
17 PTPN11 NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) SNV Pathogenic
Pathogenic
Pathogenic
Pathogenic
13326 rs28933386 GRCh37: 12:112915523-112915523
GRCh38: 12:112477719-112477719
18 PTPN11 NM_002834.5(PTPN11):c.214G>T (p.Ala72Ser) SNV Pathogenic
Pathogenic
13324 rs121918453 GRCh37: 12:112888198-112888198
GRCh38: 12:112450394-112450394
19 PTPN11 NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) SNV Pathogenic
13325 rs121918454 GRCh37: 12:112888199-112888199
GRCh38: 12:112450395-112450395
20 PTPN11 NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) SNV Pathogenic
40513 rs397507520 GRCh37: 12:112891083-112891083
GRCh38: 12:112453279-112453279
21 PTPN11 NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile) SNV Pathogenic
13334 rs121918462 GRCh37: 12:112888202-112888202
GRCh38: 12:112450398-112450398
22 PTPN11 NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg) SNV Pathogenic
40558 rs397507545 GRCh37: 12:112926887-112926887
GRCh38: 12:112489083-112489083
23 PTPN11 NM_002834.5(PTPN11):c.1508G>A (p.Gly503Glu) SNV Pathogenic
40561 rs397507546 GRCh37: 12:112926888-112926888
GRCh38: 12:112489084-112489084
24 PTPN11 NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp) SNV Pathogenic
13329 rs121918460 GRCh37: 12:112888168-112888168
GRCh38: 12:112450364-112450364
25 PTPN11 NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu) SNV Pathogenic
Pathogenic
40528 rs397507531 GRCh37: 12:112910844-112910844
GRCh38: 12:112473040-112473040
26 PTPN11 NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg) SNV Pathogenic
40559 rs397507545 GRCh37: 12:112926887-112926887
GRCh38: 12:112489083-112489083
27 PTPN11 NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) SNV Pathogenic
Pathogenic
40562 rs397507547 GRCh37: 12:112926890-112926890
GRCh38: 12:112489086-112489086
28 PTPN11 NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp) SNV Pathogenic
40487 rs397507505 GRCh37: 12:112888156-112888156
GRCh38: 12:112450352-112450352
29 PTPN11 NM_002834.5(PTPN11):c.1529A>G (p.Gln510Arg) SNV Pathogenic
13345 rs121918470 GRCh37: 12:112926909-112926909
GRCh38: 12:112489105-112489105
30 PTPN11 NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) SNV Pathogenic
Pathogenic
40522 rs376607329 GRCh37: 12:112910785-112910785
GRCh38: 12:112472981-112472981
31 PTPN11 NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly) SNV Pathogenic
13330 rs121918461 GRCh37: 12:112888166-112888166
GRCh38: 12:112450362-112450362
32 PTPN11 NM_002834.5(PTPN11):c.802G>A (p.Gly268Ser) SNV Pathogenic
44614 rs397507527 GRCh37: 12:112910793-112910793
GRCh38: 12:112472989-112472989
33 PTPN11 NM_002834.5(PTPN11):c.1472C>T (p.Pro491Leu) SNV Pathogenic
40552 rs397507540 GRCh37: 12:112926852-112926852
GRCh38: 12:112489048-112489048
34 PTPN11 NM_002834.5(PTPN11):c.844A>G (p.Ile282Val) SNV Pathogenic
40525 rs397507529 GRCh37: 12:112910835-112910835
GRCh38: 12:112473031-112473031
35 PTPN11 NM_002834.5(PTPN11):c.115G>A (p.Gly39Arg) SNV Likely Pathogenic
280367 rs886041585 GRCh37: 12:112884180-112884180
GRCh38: 12:112446376-112446376
36 PTPN11 NM_002834.5(PTPN11):c.92C>G (p.Ala31Gly) SNV Likely Pathogenic
976032 rs2037994433 GRCh37: 12:112884157-112884157
GRCh38: 12:112446353-112446353
37 PTPN11 NM_002834.5(PTPN11):c.853T>G (p.Phe285Val) SNV Likely Pathogenic
40527 rs397507531 GRCh37: 12:112910844-112910844
GRCh38: 12:112473040-112473040
38 PTPN11 NM_002834.5(PTPN11):c.-161T>A SNV Uncertain Significance
880816 rs893158717 GRCh37: 12:112856755-112856755
GRCh38: 12:112418951-112418951
39 PTPN11 NM_002834.5(PTPN11):c.-151C>A SNV Uncertain Significance
880817 rs889190246 GRCh37: 12:112856765-112856765
GRCh38: 12:112418961-112418961
40 PTPN11 NM_002834.5(PTPN11):c.*64C>G SNV Uncertain Significance
880940 rs763895470 GRCh37: 12:112943660-112943660
GRCh38: 12:112505856-112505856
41 PTPN11 NM_002834.5(PTPN11):c.*720C>T SNV Uncertain Significance
880986 rs770605810 GRCh37: 12:112944316-112944316
GRCh38: 12:112506512-112506512
42 PTPN11 NM_002834.5(PTPN11):c.*1830G>A SNV Uncertain Significance
881085 rs1399608679 GRCh37: 12:112945426-112945426
GRCh38: 12:112507622-112507622
43 PTPN11 NM_002834.5(PTPN11):c.*1332G>A SNV Uncertain Significance
307243 rs886048973 GRCh37: 12:112944928-112944928
GRCh38: 12:112507124-112507124
44 PTPN11 NM_002834.5(PTPN11):c.*50C>T SNV Uncertain Significance
138845 rs730880328 GRCh37: 12:112943646-112943646
GRCh38: 12:112505842-112505842
45 PTPN11 NM_002834.5(PTPN11):c.*1946G>A SNV Uncertain Significance
307251 rs886048976 GRCh37: 12:112945542-112945542
GRCh38: 12:112507738-112507738
46 PTPN11 NM_002834.5(PTPN11):c.*2493C>T SNV Uncertain Significance
307252 rs886048977 GRCh37: 12:112946089-112946089
GRCh38: 12:112508285-112508285
47 PTPN11 NM_002834.5(PTPN11):c.473G>C (p.Gly158Ala) SNV Uncertain Significance
488168 rs1555267825 GRCh37: 12:112891139-112891139
GRCh38: 12:112453335-112453335
48 PTPN11 NM_002834.5(PTPN11):c.1048T>G (p.Ser350Ala) SNV Uncertain Significance
40540 rs146571700 GRCh37: 12:112915775-112915775
GRCh38: 12:112477971-112477971
49 PTPN11 NM_002834.5(PTPN11):c.*2928A>T SNV Uncertain Significance
307257 rs565075386 GRCh37: 12:112946524-112946524
GRCh38: 12:112508720-112508720
50 PTPN11 NM_002834.5(PTPN11):c.14+8G>T SNV Uncertain Significance
307224 rs886048965 GRCh37: 12:112856937-112856937
GRCh38: 12:112419133-112419133

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

73
# Symbol AA change Variation ID SNP ID
1 PTPN11 p.Tyr279Cys VAR_015614 rs121918456
2 PTPN11 p.Thr468Met VAR_015621 rs121918457
3 PTPN11 p.Tyr279Ser VAR_027188 rs121918456
4 PTPN11 p.Ala461Thr VAR_027190 rs121918468
5 PTPN11 p.Gly464Ala VAR_027191 rs121918469
6 PTPN11 p.Arg498Leu VAR_027192 rs397507542
7 PTPN11 p.Arg498Trp VAR_027193 rs397507541
8 PTPN11 p.Gln506Pro VAR_027194 rs397509345
9 PTPN11 p.Gln510Pro VAR_027196 rs121918470
10 PTPN11 p.Gln510Glu VAR_076499 rs397507549

Expression for Leopard Syndrome 1

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

Pathways for Leopard Syndrome 1

Pathways related to Leopard Syndrome 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 9.95 PTPN20 PTPN11

GO Terms for Leopard Syndrome 1

Sources for Leopard Syndrome 1

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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