LPRD1
MCID: LPR012
MIFTS: 48

Leopard Syndrome 1 (LPRD1)

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

Aliases & Classifications for Leopard Syndrome 1

MalaCards integrated aliases for Leopard Syndrome 1:

Name: Leopard Syndrome 1 57 12 72 29 13 6 37
Noonan Syndrome with Multiple Lentigines 1 12 15
Multiple Lentigines Syndrome 57 6
Lprd1 57 72
Lentiginosis, Cardiomyopathic 57
Leopard Syndrome, Type 1 39
Multiple Lentigines 70
Leopard Syndrome 70

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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
lentigines may be absent
lentigines may be congenital or develop in first months to years of life


HPO:

31
leopard syndrome 1:
Inheritance autosomal dominant inheritance


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 20-May-2021)

MalaCards based summary : Leopard Syndrome 1, also known as noonan syndrome with multiple lentigines 1, is related to noonan syndrome with multiple lentigines and 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 are Immune response Role of DAP12 receptors in NK cells and Development Slit-Robo signaling. Affiliated tissues include ovary, heart and cerebellum, and related phenotypes are hypertrophic cardiomyopathy and pulmonic stenosis

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

UniProtKB/Swiss-Prot : 72 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 1 family:

Leopard Syndrome 2 Leopard Syndrome 3

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

(show all 38)
# Related Disease Score Top Affiliating Genes
1 noonan syndrome with multiple lentigines 32.6 RAF1 PTPN11 BRAF
2 lentigines 31.3 RAF1 PTPN11 BRAF
3 noonan syndrome 1 28.7 RPL6 RAF1 PTPN11 PALM3 MIR3193 MAPKAPK5
4 lentiginosis, inherited patterned 11.2
5 hypertelorism 10.2
6 leopard syndrome 2 10.2 RAF1 PTPN11
7 branchiootic syndrome 1 10.2
8 pseudo-turner syndrome 10.2
9 noonan syndrome and noonan-related syndrome 10.2 RAF1 PTPN11 BRAF
10 pilocytic astrocytoma of cerebellum 10.1 CLCN6 BRAF
11 pilomyxoid astrocytoma 10.1 RAF1 CLCN6 BRAF
12 neurofibromatosis 10.1
13 pilocytic astrocytoma 10.1 RAF1 PTPN11 BRAF
14 cerebellar astrocytoma 10.1 CLCN6 BRAF
15 rasopathy 10.0 RPL6 RAF1 PTPN11 BRAF
16 juvenile xanthogranuloma 10.0 PTPN11 BRAF
17 cafe-au-lait spots, multiple 9.9
18 dyschromatosis universalis hereditaria 1 9.9
19 pectus excavatum 9.9
20 dowling-degos disease 1 9.9
21 teeth, supernumerary 9.9
22 renal hypodysplasia/aplasia 1 9.9
23 watson syndrome 9.9
24 alopecia-epilepsy-oligophrenia syndrome of moynahan 9.9
25 cryptorchidism, unilateral or bilateral 9.9
26 neurofibromatosis-noonan syndrome 9.9
27 hypospadias 9.9
28 hypertrophic cardiomyopathy 9.9
29 graves' disease 9.9
30 heart septal defect 9.9
31 atrial heart septal defect 9.9
32 dermatitis 9.9
33 rhabdomyosarcoma 9.9
34 pulmonary valve stenosis 9.9
35 ocular hypertension 9.9
36 aorto-right ventricular tunnel 9.9
37 cardiofaciocutaneous syndrome 1 9.9 SPRED3 RAF1 PTPN11 BRAF
38 metachondromatosis 9.9 RPL6 PTPN11 MIR3193 FAM219B CLCN6

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:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 20-May-2021)

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 Unknown status 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 29 PTPN11

Anatomical Context for Leopard Syndrome 1

MalaCards organs/tissues related to Leopard Syndrome 1:

40
Ovary, Heart, Cerebellum, Myeloid, Skin

Publications for Leopard Syndrome 1

Articles related to Leopard Syndrome 1:

(show top 50) (show all 127)
# Title Authors PMID Year
1
Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome. 57 6
20535210 2010
2
IMAGE CARDIO MED. A patient with LEOPARD syndrome and PTPN11 mutation. 6 57
19273734 2009
3
Multiple granular cell tumors are an associated feature of LEOPARD syndrome caused by mutation in PTPN11. 6 57
19054014 2009
4
Genotype-phenotype analysis and natural history of left ventricular hypertrophy in LEOPARD syndrome. 57 6
18241070 2008
5
PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects. 57 6
16377799 2006
6
Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. 6 57
16358218 2006
7
Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11. 6 57
15690106 2005
8
Two novel and one recurrent PTPN11 mutations in LEOPARD syndrome. 57 6
15389709 2004
9
Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. 6 57
12058348 2002
10
Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations. 6
32164556 2020
11
ClinGen's RASopathy Expert Panel consensus methods for variant interpretation. 6
29493581 2018
12
Novel mutations and their genotype-phenotype correlations in patients with Noonan syndrome, using next-generation sequencing. 6
28957739 2018
13
Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype. 6
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. 6
28483241 2017
15
Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients. 6
27521173 2016
16
Lentiginous phenotypes caused by diverse pathogenic genes (SASH1 and PTPN11): clinical and molecular discrimination. 6
27659786 2016
17
Genomic Classification and Prognosis in Acute Myeloid Leukemia. 6
27276561 2016
18
Retrospective study of prenatal ultrasound findings in newborns with a Noonan spectrum disorder. 6
26918529 2016
19
The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. 6
27069254 2016
20
De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies. 6
26785492 2015
21
[Arnold-Chiari malformation in Noonan syndrome and other syndromes of the RAS/MAPK pathway]. 6
25912702 2015
22
Neonatal pulmonary arterial hypertension and Noonan syndrome: two fatal cases with a specific RAF1 mutation. 6
25706034 2015
23
PTPN11 mutation manifesting as LEOPARD syndrome associated with hypertrophic plexi and neuropathic pain. 6
25884655 2015
24
Subclonal mutations in SETBP1 confer a poor prognosis in juvenile myelomonocytic leukemia. 6
25395418 2015
25
Juvenile myelomonocytic leukaemia and Noonan syndrome. 6
25097206 2014
26
Molecular basis of gain-of-function LEOPARD syndrome-associated SHP2 mutations. 6
24935154 2014
27
Noonan and LEOPARD syndrome Shp2 variants induce heart displacement defects in zebrafish. 6
24718990 2014
28
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations. 6
24803665 2014
29
LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies. 6
24767283 2014
30
Structural insights into Noonan/LEOPARD syndrome-related mutants of protein-tyrosine phosphatase SHP2 (PTPN11). 6
24628801 2014
31
Diagnosis of Noonan syndrome and related disorders using target next generation sequencing. 6
24451042 2014
32
Medulloblastoma in a patient with the PTPN11 p.Thr468Met mutation. 6
23813970 2013
33
Syndromic Hearing Loss in Association with PTPN11-Related Disorder: The Experience of Cochlear Implantation in a Child with LEOPARD Syndrome. 6
23799168 2013
34
Age-dependent germline mosaicism of the most common noonan syndrome mutation shows the signature of germline selection. 6
23726368 2013
35
LEOPARD syndrome: a variant of Noonan syndrome strongly associated with hypertrophic cardiomyopathy. 6
24775816 2013
36
Extensive abdominal lipomatosis in a patient with Noonan/LEOPARD syndrome (Noonan syndrome-Multiple Lentigines). 6
22528600 2012
37
A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with a PTPN11 mutation and a novel variant in SOS1. 6
22585553 2012
38
Pediatric cardiomyopathy: importance of genetic and metabolic evaluation. 6
22555271 2012
39
The PTPN11 loss-of-function mutation Q510E-Shp2 causes hypertrophic cardiomyopathy by dysregulating mTOR signaling. 6
22058153 2012
40
LEOPARD-type SHP2 mutant Gln510Glu attenuates cardiomyocyte differentiation and promotes cardiac hypertrophy via dysregulation of Akt/GSK-3β/β-catenin signaling. 6
21803945 2011
41
Implantable cardioverter defibrillator for progressive hypertrophic cardiomyopathy in a patient with LEOPARD syndrome and a novel PTPN11 mutation Gln510His. 6
21910226 2011
42
RASopathies: Clinical Diagnosis in the First Year of Life. 6
22190897 2011
43
Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation. 6
21407260 2011
44
Lethal presentation of neurofibromatosis and Noonan syndrome. 6
21567923 2011
45
PTPN11-associated mutations in the heart: has LEOPARD changed Its RASpots? 6
22681964 2011
46
LEOPARD Syndrome with PTPN11 Gene Mutation Showing Six Cardinal Symptoms of LEOPARD. 6
21747628 2011
47
Rapamycin reverses hypertrophic cardiomyopathy in a mouse model of LEOPARD syndrome-associated PTPN11 mutation. 6
21339643 2011
48
LEOPARD syndrome in an infant with severe hypertrophic cardiomyopathy and PTPN11 mutation. 6
21677813 2011
49
Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype? 6
21340158 2010
50
Familial cases of atypical clinical features genetically diagnosed as LEOPARD syndrome (multiple lentigines syndrome). 6
20883402 2010

Variations for Leopard Syndrome 1

ClinVar genetic disease variations for Leopard Syndrome 1:

6 (show top 50) (show all 184)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RAF1 NM_001354689.3(RAF1):c.1516G>A (p.Asp506Asn) SNV Pathogenic 21341 rs80338798 GRCh37: 3:12627260-12627260
GRCh38: 3:12585761-12585761
2 RAF1 NM_001354689.3(RAF1):c.1897C>G (p.Leu633Val) SNV Pathogenic 13960 rs80338797 GRCh37: 3:12626123-12626123
GRCh38: 3:12584624-12584624
3 BRAF NM_001374258.1(BRAF):c.721A>C (p.Thr241Pro) SNV Pathogenic 29807 rs387906661 GRCh37: 7:140501351-140501351
GRCh38: 7:140801551-140801551
4 BRAF NM_001374258.1(BRAF):c.735A>T (p.Leu245Phe) SNV Pathogenic 40348 rs397507466 GRCh37: 7:140501337-140501337
GRCh38: 7:140801537-140801537
5 PTPN11 NM_002834.5(PTPN11):c.1529A>C (p.Gln510Pro) SNV Pathogenic 13344 rs121918470 GRCh37: 12:112926909-112926909
GRCh38: 12:112489105-112489105
6 PTPN11 NM_002834.5(PTPN11):c.1381G>A (p.Ala461Thr) SNV Pathogenic 13342 rs121918468 GRCh37: 12:112926248-112926248
GRCh38: 12:112488444-112488444
7 PTPN11 NM_002834.5(PTPN11):c.1381G>T (p.Ala461Ser) SNV Pathogenic 40546 rs121918468 GRCh37: 12:112926248-112926248
GRCh38: 12:112488444-112488444
8 PTPN11 NM_002834.5(PTPN11):c.1381G>A (p.Ala461Thr) SNV Pathogenic 13342 rs121918468 GRCh37: 12:112926248-112926248
GRCh38: 12:112488444-112488444
9 PTPN11 NM_002834.5(PTPN11):c.1493G>T (p.Arg498Leu) SNV Pathogenic 40554 rs397507542 GRCh37: 12:112926873-112926873
GRCh38: 12:112489069-112489069
10 PTPN11 NM_002834.5(PTPN11):c.1517A>C (p.Gln506Pro) SNV Pathogenic 40563 rs397507548 GRCh37: 12:112926897-112926897
GRCh38: 12:112489093-112489093
11 PTPN11 NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu) SNV Pathogenic 40566 rs397507549 GRCh37: 12:112926908-112926908
GRCh38: 12:112489104-112489104
12 PTPN11 NM_002834.4(PTPN11):c.836A>C (p.Tyr279Ser) SNV Pathogenic 65666 rs121918456 GRCh37: 12:112910827-112910827
GRCh38: 12:112473023-112473023
13 PTPN11 NM_002834.5(PTPN11):c.1517A>C (p.Gln506Pro) SNV Pathogenic 40563 rs397507548 GRCh37: 12:112926897-112926897
GRCh38: 12:112489093-112489093
14 RAF1 NM_001354689.3(RAF1):c.1897C>G (p.Leu633Val) SNV Pathogenic 13960 rs80338797 GRCh37: 3:12626123-12626123
GRCh38: 3:12584624-12584624
15 PTPN11 NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) SNV Pathogenic 13325 rs121918454 GRCh37: 12:112888199-112888199
GRCh38: 12:112450395-112450395
16 PTPN11 NM_002834.5(PTPN11):c.174C>G (p.Asn58Lys) SNV Pathogenic 40489 rs397507506 GRCh37: 12:112888158-112888158
GRCh38: 12:112450354-112450354
17 PTPN11 NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile) SNV Pathogenic 13334 rs121918462 GRCh37: 12:112888202-112888202
GRCh38: 12:112450398-112450398
18 PTPN11 NM_002834.5(PTPN11):c.1529A>C (p.Gln510Pro) SNV Pathogenic 13344 rs121918470 GRCh37: 12:112926909-112926909
GRCh38: 12:112489105-112489105
19 PTPN11 NM_002834.5(PTPN11):c.181G>A (p.Asp61Asn) SNV Pathogenic 40495 rs397507510 GRCh37: 12:112888165-112888165
GRCh38: 12:112450361-112450361
20 PTPN11 NM_002834.5(PTPN11):c.214G>T (p.Ala72Ser) SNV Pathogenic 13324 rs121918453 GRCh37: 12:112888198-112888198
GRCh38: 12:112450394-112450394
21 PTPN11 NM_002834.5(PTPN11):c.1508G>A (p.Gly503Glu) SNV Pathogenic 40561 rs397507546 GRCh37: 12:112926888-112926888
GRCh38: 12:112489084-112489084
22 PTPN11 NM_002834.5(PTPN11):c.214G>T (p.Ala72Ser) SNV Pathogenic 13324 rs121918453 GRCh37: 12:112888198-112888198
GRCh38: 12:112450394-112450394
23 PTPN11 NM_002834.5(PTPN11):c.228G>T (p.Glu76Asp) SNV Pathogenic 40502 rs397507514 GRCh37: 12:112888212-112888212
GRCh38: 12:112450408-112450408
24 PTPN11 NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp) SNV Pathogenic 40487 rs397507505 GRCh37: 12:112888156-112888156
GRCh38: 12:112450352-112450352
25 PTPN11 NM_002834.5(PTPN11):c.767A>G (p.Gln256Arg) SNV Pathogenic 40518 rs397507523 GRCh37: 12:112910758-112910758
GRCh38: 12:112472954-112472954
26 PTPN11 NM_002834.5(PTPN11):c.1493G>T (p.Arg498Leu) SNV Pathogenic 40554 rs397507542 GRCh37: 12:112926873-112926873
GRCh38: 12:112489069-112489069
27 PTPN11 NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu) SNV Pathogenic 40566 rs397507549 GRCh37: 12:112926908-112926908
GRCh38: 12:112489104-112489104
28 PTPN11 NM_002834.5(PTPN11):c.1529A>C (p.Gln510Pro) SNV Pathogenic 13344 rs121918470 GRCh37: 12:112926909-112926909
GRCh38: 12:112489105-112489105
29 PTPN11 NM_002834.4(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.802G>A (p.Gly268Ser) SNV Pathogenic 44614 rs397507527 GRCh37: 12:112910793-112910793
GRCh38: 12:112472989-112472989
31 PTPN11 NM_002834.5(PTPN11):c.1472C>T (p.Pro491Leu) SNV Pathogenic 40552 rs397507540 GRCh37: 12:112926852-112926852
GRCh38: 12:112489048-112489048
32 PTPN11 NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp) SNV Pathogenic 13329 rs121918460 GRCh37: 12:112888168-112888168
GRCh38: 12:112450364-112450364
33 PTPN11 NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu) SNV Pathogenic 40528 rs397507531 GRCh37: 12:112910844-112910844
GRCh38: 12:112473040-112473040
34 PTPN11 NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg) SNV Pathogenic 40559 rs397507545 GRCh37: 12:112926887-112926887
GRCh38: 12:112489083-112489083
35 PTPN11 NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) SNV Pathogenic 40562 rs397507547 GRCh37: 12:112926890-112926890
GRCh38: 12:112489086-112489086
36 PTPN11 NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) SNV Pathogenic 13328 rs121918456 GRCh37: 12:112910827-112910827
GRCh38: 12:112473023-112473023
37 PTPN11 NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) SNV Pathogenic 13328 rs121918456 GRCh37: 12:112910827-112910827
GRCh38: 12:112473023-112473023
38 PTPN11 NM_002834.5(PTPN11):c.844A>G (p.Ile282Val) SNV Pathogenic 40525 rs397507529 GRCh37: 12:112910835-112910835
GRCh38: 12:112473031-112473031
39 PTPN11 NM_002834.5(PTPN11):c.1391G>C (p.Gly464Ala) SNV Pathogenic 13343 rs121918469 GRCh37: 12:112926258-112926258
GRCh38: 12:112488454-112488454
40 PTPN11 NM_002834.5(PTPN11):c.1492C>T (p.Arg498Trp) SNV Pathogenic 40553 rs397507541 GRCh37: 12:112926872-112926872
GRCh38: 12:112489068-112489068
41 RAF1 NM_001354689.3(RAF1):c.770C>T (p.Ser257Leu) SNV Pathogenic 13957 rs80338796 GRCh37: 3:12645699-12645699
GRCh38: 3:12604200-12604200
42 PTPN11 NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) SNV Pathogenic 13326 rs28933386 GRCh37: 12:112915523-112915523
GRCh38: 12:112477719-112477719
43 PTPN11 NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) SNV Pathogenic 13327 rs121918455 GRCh37: 12:112915524-112915524
GRCh38: 12:112477720-112477720
44 PTPN11 NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) SNV Pathogenic 40562 rs397507547 GRCh37: 12:112926890-112926890
GRCh38: 12:112489086-112489086
45 PTPN11 NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg) SNV Pathogenic 40558 rs397507545 GRCh37: 12:112926887-112926887
GRCh38: 12:112489083-112489083
46 RAF1 NM_001354689.3(RAF1):c.1532C>T (p.Thr511Ile) SNV Pathogenic 21342 rs80338799 GRCh37: 3:12627244-12627244
GRCh38: 3:12585745-12585745
47 RAF1 NM_001354689.3(RAF1):c.770C>T (p.Ser257Leu) SNV Pathogenic 13957 rs80338796 GRCh37: 3:12645699-12645699
GRCh38: 3:12604200-12604200
48 PTPN11 NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) SNV Pathogenic 13328 rs121918456 GRCh37: 12:112910827-112910827
GRCh38: 12:112473023-112473023
49 PTPN11 NM_002834.5(PTPN11):c.1391G>C (p.Gly464Ala) SNV Pathogenic 13343 rs121918469 GRCh37: 12:112926258-112926258
GRCh38: 12:112488454-112488454
50 PTPN11 NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) SNV Pathogenic 13331 rs121918457 GRCh37: 12:112926270-112926270
GRCh38: 12:112488466-112488466

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

72
# 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
Show member pathways
12.14 RAF1 PTPN11 BRAF ACTR3B
2
Show member pathways
11.96 RAF1 BRAF ARPC5L ACTR3B
3
Show member pathways
11.84 RAF1 PTPN11 MAPKAPK5 BRAF
4
Show member pathways
11.71 RAF1 CLCN6 BRAF
5 11.48 RAF1 ARPC5L ACTR3B
6 10.98 RAF1 PTPN11 MAPKAPK5 BRAF
7 10.97 RAF1 PTPN11 BRAF

GO Terms for Leopard Syndrome 1

Cellular components related to Leopard Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Arp2/3 protein complex GO:0005885 8.62 ARPC5L ACTR3B

Biological processes related to Leopard Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Arp2/3 complex-mediated actin nucleation GO:0034314 9.16 ARPC5L ACTR3B
2 neurotrophin TRK receptor signaling pathway GO:0048011 8.96 RAF1 PTPN11
3 face development GO:0060324 8.62 RAF1 BRAF

Molecular functions related to Leopard Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 MAP kinase kinase kinase activity GO:0004709 8.96 RAF1 BRAF
2 mitogen-activated protein kinase kinase binding GO:0031434 8.62 RAF1 BRAF

Sources for Leopard Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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