MCID: LPR002
MIFTS: 67

Leopard Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Ear diseases, Skin diseases, Fetal diseases, Reproductive diseases, Cardiovascular diseases categories

Aliases & Classifications for Leopard Syndrome

About this section
Sources:
9Disease Ontology, 19GeneReviews, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 11DISEASES, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 33MeSH, 55SNOMED-CT, 38NCIt, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Leopard Syndrome, Aliases & Descriptions:

Name: Leopard Syndrome 9 19 41 20 21 11 43 47 22 60
Cardiomyopathic Lentiginosis 19 41 21 47
Multiple Lentigines Syndrome 9 19 41 21
Moynahan Syndrome 9 21 47
Progressive Cardiomyopathic Lentiginosis 9 21
Familial Multiple Lentigines Syndrome 41 47
Lentiginosis Profusa 21 60
Lentigines, Electrocardiographic Conduction Abnormalities, Ocular Hypertelorism, Pulmonic Stenosis, Abnormal Genitalia, Retardation of Growth, Deafnes 41
Alopecia-Epilepsy-Oligophrenia Syndrome, Moynahan Type 47
Capute-Rimoin-Konigsmark-Esterly-Richardson Syndrome 9
 
Alopecia Epilepsy Oligophrenia Syndrome of Moynahan 60
Progressive Cardiomyopathic Lentiginosis Syndrome 60
Noonan Syndrome with Multiple Lentigines 21
Lentiginosis Profusa Syndrome 9
Cardio-Cutaneous Syndrome 21
Generalized Lentiginosis 9
Cardiocutaneous Syndrome 9
Diffuse Lentiginosis 21
Gorlin Syndrome Ii 9


Classifications:



Characteristics (Orphanet epidemiological data):

47
leopard syndrome:
Inheritance: Autosomal dominant; Age of onset: Childhood


External Ids:

Disease Ontology9 DOID:14291
MeSH33 D044542
NCIt38 C84820
Orphanet47 500, 2574
MESH via Orphanet34 C537116, D044542
ICD10 via Orphanet26 Q87.8
UMLS via Orphanet61 C0175704, C2931424, C0265328

Summaries for Leopard Syndrome

About this section


NIH Rare Diseases:41 Leopard syndrome is an inherited condition characterized by abnormalities of the skin, heart, inner ears, and genitalia. the acronym leopard describes the characteristic features associated with this condition: (l)entigines (multiple dark spots on the skin); (e)lectrocardiographic conduction defects (abnormalities of the electrical activity of the heart); (o)cular hypertelorism (widely spaced eyes); (p)ulmonary stenosis (obstruction of the normal outflow of blood from the right ventricle of the heart); (a)bnormalities of the genitalia; (r)etarded growth resulting in short stature; and (d)eafness or hearing loss.there are three types of leopard syndrome, which are distinguished by their underlying genetic cause. leopard syndrome type 1 is caused by mutations in the ptpn11 gene; type 2 is caused by mutations in the raf1 gene; and type 3 is caused by mutations in the braf gene. most cases are inherited from a parent in an autosomal dominant pattern. less often, leopard syndrome occurs in people without a family history of the condition due to a new gene mutation. last updated: 12/8/2011

MalaCards based summary: Leopard Syndrome, also known as cardiomyopathic lentiginosis, is related to leopard syndrome 1 and neurofibromatosis, and has symptoms including alopecia, cognitive impairment and hypertelorism. An important gene associated with Leopard Syndrome is RAF1 (v-raf-1 murine leukemia viral oncogene homolog 1), and among its related pathways are IGF1 pathway and Nongenotropic Androgen signaling. The compounds trametinib and phenylalanine have been mentioned in the context of this disorder. Affiliated tissues include skin, heart and eye, and related mouse phenotypes are pigmentation and adipose tissue.

Genetics Home Reference:21 Multiple lentigines syndrome (formerly called LEOPARD syndrome) is a condition that affects many areas of the body. The characteristic features associated with the condition include brown skin spots called lentigines that are similar to freckles, abnormalities in the electrical signals that control the heartbeat, widely spaced eyes (ocular hypertelorism), a narrowing of the artery from the heart to the lungs (pulmonary stenosis), abnormalities of the genitalia, short stature, and hearing loss. These features vary, however, even among affected individuals in the same family. Not all individuals affected with multiple lentigines syndrome have all the characteristic features of this condition.

GeneReviews summary for leopard

Related Diseases for Leopard Syndrome

About this section

Diseases in the Leopard Syndrome family:

Leopard Syndrome 2 Leopard Syndrome 3
Leopard Syndrome 1 Ptpn11-Related Leopard Syndrome
Raf1-Related Leopard Syndrome Braf-Related Leopard Syndrome

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

(show top 50)    (show all 104)
idRelated DiseaseScoreTop Affiliating Genes
1leopard syndrome 131.6PTPN11
2neurofibromatosis30.8PTPN11, NF1, HRAS
3neurofibromatosis-noonan syndrome30.6NF1, PTPN11
4obesity30.1PTPN11, PTPN1, PIK3R1, AKT1, ACP1
5leukemia28.9PIK3CA, HRAS, PIK3R1, PTPN1, PTPN11, AKT1
6melanoma28.8AKT1, RAF1, MAP2K1, ACP1, PIK3CA, PIK3R1
7noonan syndrome 110.6PTPN11
8hypertrophic cardiomyopathy10.5
9proteus syndrome, somatic10.5CDKN3
10spitz nevus10.4HRAS, BRAF
11pilocytic astrocytoma10.4NF1
12leopard syndrome 210.4
13leopard syndrome 310.4
14epilepsy, progressive myoclonic 2b10.4CDKN3, ACP1
15bubonic plague10.4PTPN1, ACP1, CDKN3
16pulmonary valve stenosis10.4PTPN11, SOS1
17thyroid adenoma10.3BRAF, RAF1, PIK3CA
18kidney cancer10.3RAF1, BRAF, PIK3CA
19thyroid carcinoma, papillary10.3HRAS, BRAF, RAF1
20leukemia, juvenile myelomonocytic10.3PTPN11, NF1
21ovarian cancer, somatic10.3AKT1, PIK3CA
22developmental disabilities10.3BRAF, PTPN11, HRAS, RAF1
23cholangiocarcinoma10.3BRAF, PIK3CA, RAF1
24perineurioma10.3DSP
25ptpn11-related leopard syndrome10.3
26raf1-related leopard syndrome10.3
27braf-related leopard syndrome10.3
28thyroid cancer10.3PIK3CA, BRAF, HRAS
29colorectal cancer10.2AKT1, PIK3CA
30ataxia-telangiectasia10.2PIK3R1, CDKN3, PIK3CA
31lung cancer susceptibility 310.2BRAF, RAF1, HRAS, PIK3CA
32skin benign neoplasm10.2BRAF, NF1, HRAS
33lung cancer10.2AKT1, HRAS, PIK3CA
34congenital heart disease10.2PIK3CA, PTPN11, DSP, ACP1
35polycystic kidney disease, autosomal dominant10.2FBN1, BRAF, RAF1
36bone marrow cancer10.2HRAS, NF1, PTPN11
37neurofibromatosis, type 110.2
38granular cell tumor10.2
39hepatitis c10.2PIK3R1, SOS1, RAF1, PTPN11
40alopecia epilepsy oligophrenia syndrome of moynahan10.2
41adenomatous polyposis coli10.2BRAF, ACP1, GSK3B
42familial generalized lentiginosis10.2
43unilateral renal agenesis10.2
44aorto-right ventricular tunnel10.2
45neurofibromatosis, type 210.1NF1, ACP1, AKT1
46hyperinsulinism10.1AKT1, PTPN1, CDKN3, PIK3R1
47breast cancer10.1ACP1, PIK3CA, AKT1, HRAS
48naxos disease10.1
49arrhythmogenic right ventricular dysplasia 110.1
50keratosis palmoplantaris striata i, ad10.1

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



Diseases related to leopard syndrome

Symptoms for Leopard Syndrome

About this section

Symptoms:

 47 (show all 55)
  • hypertelorism
  • sensorineural deafness/hearing loss
  • hyperelastic skin/cutaneous hyperlaxity
  • pigmented naevi/naevus pigmentosus/lentigo
  • excessive freckling
  • pulmonary valve atresia/stenosis/narrowing
  • pulmonary artery stenosis/absence/hypoplasia of the pulmonary branches
  • cardiac rhythm disorder/arrhythmia
  • cardiac conduction defect/sinoauricular/heart/auriculoventricular/branch block
  • structural anomalies of the genital system
  • myelodysplastic syndrome
  • autosomal dominant inheritance
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • intrauterine growth retardation
  • face/facial anomalies
  • ptosis
  • broad nose/nasal bridge
  • anomalies of ear and hearing
  • low set ears/posteriorly rotated ears
  • webbed neck/pterygium colli
  • pectus carinatum
  • pectus excavatum
  • scapula structural/position anomaly/congenital elevation/sprengel anomaly
  • mitral valve prolapse/incompetence/insufficiency/regurgitation/ring anomaly
  • congenital cardiac anomaly/malformation/cardiopathy
  • atrioventricular canal
  • cardiomyopathy/hypertrophic/dilated
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • sterility/hypofertility
  • brachycephaly/flat occiput
  • triangular face
  • scoliosis
  • spina bifida occulta
  • absent/hypotonic/flaccid abdominal wall muscles
  • rippled skin
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • abnormal cry/voice/phonation disorder/nasal speech
  • endocardium anomalies/fibroelastosis/endocarditis
  • angor pectoris/myocardial infarction
  • arterial aneurism (excluding aorta)
  • ectopic/horseshoe/fused kidneys
  • hypospadias/epispadias/bent penis
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • melanoma
  • neuroblastoma
  • myeloproliferative syndrome/chronic leukemia
  • short stature/dwarfism/nanism
  • alopecia
  • autosomal recessive inheritance
  • microcephaly
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • late puberty/hypogonadism/hypogenitalism
  • seizures/epilepsy/absences/spasms/status epilepticus
  • wasted (excluding lipodystrophy)/poorly muscled build/cachexy
  • hyperkeratosis/ainhum/hyperkeratotic skin fissures

HPO human phenotypes related to Leopard Syndrome:

(show all 47)
id Description Frequency HPO Source Accession
1 alopecia hallmark (90%) HP:0001596
2 cognitive impairment hallmark (90%) HP:0100543
3 hypertelorism hallmark (90%) HP:0000316
4 sensorineural hearing impairment hallmark (90%) HP:0000407
5 hyperextensible skin hallmark (90%) HP:0000974
6 melanocytic nevus hallmark (90%) HP:0000995
7 freckling hallmark (90%) HP:0001480
8 intrauterine growth retardation hallmark (90%) HP:0001511
9 abnormality of the pulmonary valve hallmark (90%) HP:0001641
10 myelodysplasia hallmark (90%) HP:0002863
11 abnormality of the pulmonary artery hallmark (90%) HP:0004414
12 arrhythmia hallmark (90%) HP:0011675
13 abnormality of the genital system typical (50%) HP:0000078
14 microcephaly typical (50%) HP:0000252
15 seizures typical (50%) HP:0001250
16 short stature typical (50%) HP:0004322
17 decreased body weight typical (50%) HP:0004325
18 cryptorchidism typical (50%) HP:0000028
19 decreased fertility typical (50%) HP:0000144
20 abnormality of the nose typical (50%) HP:0000366
21 low-set, posteriorly rotated ears typical (50%) HP:0000368
22 webbed neck typical (50%) HP:0000465
23 ptosis typical (50%) HP:0000508
24 pectus excavatum typical (50%) HP:0000767
25 pectus carinatum typical (50%) HP:0000768
26 sprengel anomaly typical (50%) HP:0000912
27 abnormality of the mitral valve typical (50%) HP:0001633
28 hypertrophic cardiomyopathy typical (50%) HP:0001639
29 complete atrioventricular canal defect typical (50%) HP:0001674
30 sensorineural hearing impairment occasional (7.5%) HP:0000407
31 hyperkeratosis occasional (7.5%) HP:0000962
32 triangular face occasional (7.5%) HP:0000325
33 abnormality of the voice occasional (7.5%) HP:0001608
34 coronary artery disease occasional (7.5%) HP:0001677
35 leukemia occasional (7.5%) HP:0001909
36 aneurysm occasional (7.5%) HP:0002617
37 abnormality of calvarial morphology occasional (7.5%) HP:0002648
38 scoliosis occasional (7.5%) HP:0002650
39 melanoma occasional (7.5%) HP:0002861
40 neuroblastoma occasional (7.5%) HP:0003006
41 spina bifida occulta occasional (7.5%) HP:0003298
42 abnormality of the endocardium occasional (7.5%) HP:0004306
43 short stature occasional (7.5%) HP:0004322
44 aplasia/hypoplasia of the abdominal wall musculature occasional (7.5%) HP:0010318
45 abnormal localization of kidney occasional (7.5%) HP:0100542
46 cognitive impairment occasional (7.5%) HP:0100543
47 displacement of the external urethral meatus occasional (7.5%) HP:0100627

Drugs & Therapeutics for Leopard Syndrome

About this section

Drug clinical trials:

Search ClinicalTrials for Leopard Syndrome

Search NIH Clinical Center for Leopard Syndrome

Genetic Tests for Leopard Syndrome

About this section

Genetic tests related to Leopard Syndrome:

id Genetic test Affiliating Genes
1 Leopard Syndrome20 22 RAF1

Anatomical Context for Leopard Syndrome

About this section

MalaCards organs/tissues related to Leopard Syndrome:

31
Skin, Heart, Eye, Lung, Kidney, Testes

Animal Models for Leopard Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Leopard Syndrome:

35 (show all 24)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.2NF1, BRAF, PTPN11, FBN1
2MP:00053758.7PTPN1, PIK3CA, FBN1, AKT1, BRAF, PTPN11
3MP:00053708.5BRAF, NF1, PIK3R1, PTPN11, GAB1, RAF1
4MP:00030128.3FBN1, HRAS, RAF1, GSK3B, SOS1, PTPN11
5MP:00053888.3RAF1, NF1, HRAS, AKT1, BRAF, PTPN11
6MP:00053818.2GAB1, GSK3B, MAP2K1, MAP2K2, BRAF, SOS1
7MP:00053918.1RAF1, GAB1, MAP2K2, SOS1, PTPN11, PIK3CA
8MP:00020067.9RAF1, MAP2K1, MAP2K2, AKT1, BRAF, HRAS
9MP:00053697.9PIK3CA, RAF1, GAB1, NF1, AKT1, BRAF
10MP:00053867.6HRAS, BRAF, GAB1, NF1, PIK3CA, RAF1
11MP:00028737.5PIK3R1, SHOC2, PTPN11, BRAF, AKT1, MAP2K2
12MP:00053827.4PTPN11, BRAF, MAP2K2, MAP2K1, GSK3B, NF1
13MP:00053977.3SOS1, NF1, RAF1, CSRNP3, AKT1, BRAF
14MP:00053797.2BRAF, AKT1, MAP2K1, PIK3CA, FBN1, GSK3B
15MP:00036317.1GSK3B, FBN1, PTPN11, SOS1, BRAF, AKT1
16MP:00053907.0HRAS, GSK3B, MAP2K1, RAF1, FBN1, PTPN1
17MP:00107716.7RAF1, NF1, GAB1, HRAS, MAP2K1, MAP2K2
18MP:00053806.6GAB1, NF1, RAF1, CSRNP3, MAP2K1, AKT1
19MP:00053856.6RAF1, GSK3B, MAP2K1, AKT1, BRAF, SOS1
20MP:00053876.4GSK3B, CSRNP3, ACP1, AKT1, BRAF, SOS1
21MP:00053766.1GSK3B, FBN1, RAF1, PTPN1, PTPN11, GAB1
22MP:00053846.0MAP2K2, PIK3CA, PIK3R1, FBN1, PTPN11, SOS1
23MP:00107685.3GAB1, PIK3CA, PIK3R1, FBN1, PTPN1, PTPN11
24MP:00053785.0PIK3CA, HRAS, GAB1, NF1, RAF1, PTPN1

Publications for Leopard Syndrome

About this section

Articles related to Leopard Syndrome:

(show top 50)    (show all 138)
idTitleAuthorsYear
1
LEOPARD syndrome: you could be the first one to diagnose! (25572376)
2015
2
PTPN11 mutation manifesting as LEOPARD syndrome associated with hypertrophic plexi and neuropathic pain. (25884655)
2015
3
Molecular basis of gain-of-function LEOPARD syndrome-associated SHP2 mutations. (24935154)
2014
4
LEOPARD syndrome: maxillofacial care. (24705231)
2014
5
Noonan and LEOPARD syndrome Shp2 variants induce heart displacement defects in zebrafish. (24718990)
2014
6
LEOPARD Syndrome Without Hearing Loss or Pulmonary Stenosis: A Report of 2 Cases. (25544017)
2014
7
Phosphoproteomics-mediated identification of Fer kinase as a target of mutant Shp2 in Noonan and LEOPARD syndrome. (25184253)
2014
8
LEOPARD syndrome with Wolff-Parkinson-White syndrome on electrocardiography. (24177621)
2013
9
Syndromic Hearing Loss in Association with PTPN11-Related Disorder: The Experience of Cochlear Implantation in a Child with LEOPARD Syndrome. (23799168)
2013
10
Structural and mechanistic insights into LEOPARD syndrome-associated SHP2 mutations. (23457302)
2013
11
RASopathies: from Noonan to LEOPARD syndrome. (24773692)
2013
12
LEOPARD syndrome: a variant of Noonan syndrome strongly associated with hypertrophic cardiomyopathy. (24775816)
2013
13
Scalp melanoma in a woman with LEOPARD syndrome: possible implication of PTPN11 signaling in melanoma pathogenesis. (24034393)
2013
14
New approaches to prevent LEOPARD syndrome-associated cardiac hypertrophy by specifically targeting Shp2-dependent signaling. (23673659)
2013
15
RASopathies: From Noonan to LEOPARD Syndrome. (23830833)
2013
16
Two cases of LEOPARD syndrome--RAF1 mutations firstly described in children. (22389993)
2011
17
LEOPARD Syndrome with PTPN11 Gene Mutation Showing Six Cardinal Symptoms of LEOPARD. (21747628)
2011
18
Implantable cardioverter defibrillator for progressive hypertrophic cardiomyopathy in a patient with LEOPARD syndrome and a novel PTPN11 mutation Gln510His. (21910226)
2011
19
A familial case of LEOPARD syndrome associated with a high-functioning autism spectrum disorder. (21093184)
2011
20
An uncommon association between skin lesions and LEOPARD syndrome affected an old patient. Case report. (21657161)
2011
21
Phosphatase-dependent and -independent functions of Shp2 in neural crest cells underlie LEOPARD syndrome pathogenesis. (20493809)
2010
22
Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome. (20535210)
2010
23
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
24
Leopard syndrome and Chiari type I malformation: a case report and review of the literature. (19131856)
2009
25
IMAGE CARDIO MED. A patient with LEOPARD syndrome and PTPN11 mutation. (19273734)
2009
26
Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development. (18849586)
2009
27
Visual function in Noonan and LEOPARD syndrome. (19568997)
2008
28
Common acute lymphoblastic leukemia in a girl with genetically confirmed LEOPARD syndrome. (18799937)
2008
29
Acute myelomonocytic leukemia in a boy with LEOPARD syndrome (PTPN11 gene mutation positive). (16679933)
2006
30
Reduced phosphatase activity of SHP-2 in LEOPARD syndrome: consequences for PI3K binding on Gab1. (16638574)
2006
31
Is sudden cardiac death predictable in LEOPARD syndrome? (17116277)
2006
32
LEOPARD syndrome: clinical diagnosis in the first year of life. (16523510)
2006
33
PTPN11 mutations and genotype-phenotype correlations in Noonan and LEOPARD syndromes. (16208280)
2005
34
Anaesthetic implications of LEOPARD syndrome. (15078383)
2004
35
LEOPARD syndrome: a new polyaneurysm association and an update on the molecular genetics of the disease. (15071461)
2004
36
A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndrome. (15470362)
2004
37
Familial aggregation of genetically heterogeneous hypertrophic cardiomyopathy: a boy with LEOPARD syndrome due to PTPN11 mutation and his nonsyndromic father lacking PTPN11 mutations. (14991917)
2004
38
Intense pulsed light for the treatment of lentigines in LEOPARD syndrome. (12946381)
2003
39
PTPN11 mutations in LEOPARD syndrome. (12161596)
2002
40
Leopard syndrome. (11599630)
2001
41
Leopard syndrome--report of a variant case. (10863481)
1999
42
Partial agenesis of corpus callosum in LEOPARD syndrome. (10583620)
1999
43
An intriguing case of LEOPARD syndrome. (9572697)
1998
44
Pigmentary anomalies in the multiple lentigines syndrome: Is it distinct from LEOPARD syndrome? (9122064)
1996
45
Neurofibromatosis type I gene mutation in a patient with features of LEOPARD syndrome. (8807336)
1996
46
LEOPARD syndrome associated with steatocystoma multiplex and hyperelastic skin. Report of a Japanese case. (8578962)
1995
47
Accumulation of membrane-bound melanosomes occurs in Langerhans cells of patients with the Leopard syndrome. (1424250)
1992
48
LEOPARD syndrome: death because of chronic respiratory insufficiency. (2260561)
1990
49
Dermal Merkel cells in the nevus of Ota and leopard syndrome. (6480925)
1984
50
Primary pulmonary hypertension in leopard syndrome. (7295444)
1981

Variations for Leopard Syndrome

About this section

Clinvar genetic disease variations for Leopard Syndrome:

6 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1PTPN11NM_002834.3(PTPN11): c.836A> G (p.Tyr279Cys)single nucleotide variantPathogenicrs121918456GRCh37Chr 12, 112910827: 112910827
2PTPN11NM_002834.3(PTPN11): c.1403C> T (p.Thr468Met)single nucleotide variantPathogenicrs121918457GRCh37Chr 12, 112926270: 112926270
3PTPN11NM_002834.3(PTPN11): c.1381G> A (p.Ala461Thr)single nucleotide variantPathogenicrs121918468GRCh37Chr 12, 112926248: 112926248
4PTPN11NM_002834.3(PTPN11): c.1391G> C (p.Gly464Ala)single nucleotide variantPathogenicrs121918469GRCh37Chr 12, 112926258: 112926258
5PTPN11NM_002834.3(PTPN11): c.1529A> C (p.Gln510Pro)single nucleotide variantPathogenicrs121918470GRCh37Chr 12, 112926909: 112926909
6RAF1NM_002880.3(RAF1): c.770C> T (p.Ser257Leu)single nucleotide variantPathogenicrs80338796GRCh37Chr 3, 12645699: 12645699
7RAF1NM_002880.3(RAF1): c.1837C> G (p.Leu613Val)single nucleotide variantPathogenicrs80338797GRCh37Chr 3, 12626123: 12626123
8RAF1NM_002880.3(RAF1): c.1456G> A (p.Asp486Asn)single nucleotide variantPathogenicrs80338798GRCh37Chr 3, 12627260: 12627260
9RAF1NM_002880.3(RAF1): c.1472C> T (p.Thr491Ile)single nucleotide variantPathogenicrs80338799GRCh37Chr 3, 12627244: 12627244
10BRAFNM_004333.4(BRAF): c.721A> C (p.Thr241Pro)single nucleotide variantPathogenicrs387906661GRCh37Chr 7, 140501351: 140501351
11BRAFNM_004333.4(BRAF): c.735A> T (p.Leu245Phe)single nucleotide variantLikely pathogenic, Pathogenicrs397507466GRCh37Chr 7, 140501337: 140501337
12PTPN11NM_002834.3(PTPN11): c.1381G> T (p.Ala461Ser)single nucleotide variantPathogenicrs121918468GRCh37Chr 12, 112926248: 112926248
13PTPN11NM_002834.3(PTPN11): c.836A> C (p.Tyr279Ser)single nucleotide variantPathogenicrs121918456GRCh37Chr 12, 112910827: 112910827

Expression for genes affiliated with Leopard Syndrome

About this section
Search GEO for disease gene expression data for Leopard Syndrome.

Pathways for genes affiliated with Leopard Syndrome

About this section

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

(show top 50)    (show all 236)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
18.5HRAS, RAF1, AKT1, SOS1, PTPN11, PTPN1
28.4PIK3CA, HRAS, RAF1, MAP2K1, MAP2K2, AKT1
3
Show member pathways
8.2MAP2K2, AKT1, BRAF, PIK3R1, PIK3CA, MAP2K1
4
Show member pathways
8.1PIK3R1, PIK3CA, AKT1, MAP2K2, MAP2K1, RAF1
5
Show member pathways
8.0PIK3CA, RAF1, GSK3B, MAP2K1, MAP2K2, AKT1
6
Show member pathways
Development VEGF signaling via VEGFR2 generic cascades58
8.0HRAS, NF1, RAF1, MAP2K1, MAP2K2, AKT1
7
Show member pathways
MAPK Cascade36
Immune response Oncostatin M signaling via MAPK in human cells58
Oncostatin M Signaling Pathway36
8.0AKT1, BRAF, SOS1, PTPN11, PIK3R1, MAP2K2
8
Show member pathways
EPO Receptor Signaling36
EPO signaling pathway36
7.9HRAS, GAB1, RAF1, MAP2K1, MAP2K2, AKT1
9
Show member pathways
Development A2B receptor action via G protein alpha s58
7.9BRAF, SOS1, PIK3CA, AKT1, MAP2K2, MAP2K1
10
Show member pathways
7.9BRAF, SOS1, PIK3R1, AKT1, MAP2K2, HRAS
11
Show member pathways
Prostate Cancer36
Integrated Cancer pathway36
Steroid Biosynthesis36
7.9SOS1, PTPN11, PIK3CA, AKT1, MAP2K2, HRAS
12
Show member pathways
IL-2 Signaling pathway36
7.9PIK3R1, PIK3CA, PTPN11, SOS1, HRAS, RAF1
13
Show member pathways
Apoptosis and survival BAD phosphorylation58
Development Alpha 2 adrenergic receptor activation of ERK58
Chemotaxis CXCR4 signaling pathway58
7.9HRAS, RAF1, MAP2K1, MAP2K2, AKT1, SOS1
14
Show member pathways
Immune response IL 3 activation and signaling pathway58
7.9HRAS, RAF1, MAP2K1, MAP2K2, AKT1, SOS1
15
Show member pathways
PLK2 and PLK4 events36
Polo-like kinase signaling events in the cell cycle36
7.9BRAF, SOS1, PIK3R1, PIK3CA, AKT1, MAP2K2
167.9BRAF, SOS1, PIK3R1, PIK3CA, AKT1, MAP2K2
17
Show member pathways
7.8HRAS, RAF1, GSK3B, MAP2K1, MAP2K2, AKT1
18
Show member pathways
7.8SOS1, PTPN11, PIK3R1, PIK3CA, BRAF, MAP2K2
19
Show member pathways
Immune response T cell receptor signaling pathway58
Immune response CD28 signaling58
Immune response ICOS pathway in T helper cell58
7.7MAP2K1, MAP2K2, AKT1, SOS1, PIK3R1, PIK3CA
20
Show member pathways
7.7HRAS, RAF1, MAP2K1, MAP2K2, AKT1, BRAF
21
Show member pathways
Development Flt3 signaling58
7.7GAB1, RAF1, MAP2K1, MAP2K2, AKT1, SOS1
22
Show member pathways
7.7HRAS, GAB1, RAF1, MAP2K1, MAP2K2, AKT1
23
Show member pathways
Development ERBB family signaling58
Development GDNF family signaling58
7.7AKT1, BRAF, SOS1, PIK3R1, PIK3CA, MAP2K2
247.6PTPN11, PTPN1, PIK3R1, PIK3CA, SOS1, AKT1
257.6HRAS, GAB1, RAF1, GSK3B, MAP2K1, AKT1
267.6GAB1, RAF1, GSK3B, MAP2K1, MAP2K2, AKT1
277.6HRAS, GAB1, RAF1, GSK3B, MAP2K1, MAP2K2
28
Show member pathways
7.6HRAS, GAB1, RAF1, GSK3B, MAP2K1, MAP2K2
29
Show member pathways
BCR signaling pathway36
TCR Signaling Pathway36
7.5AKT1, SOS1, PTPN11, PIK3R1, PIK3CA, MAP2K2
30
Show member pathways
Signal transduction PTEN pathway58
7.5AKT1, BRAF, SOS1, PIK3R1, PIK3CA, MAP2K2
317.5SOS1, HRAS, RAF1, MAP2K1, MAP2K2, AKT1
32
Show member pathways
Development IGF RI signaling
Immune response IL 4 signaling pathway58
Signal transduction AKT signaling58
7.5RAF1, GSK3B, MAP2K2, AKT1, SOS1, PIK3R1
337.5HRAS, GAB1, RAF1, MAP2K1, MAP2K2, AKT1
347.5HRAS, PIK3R1, BRAF, PTPN11, AKT1, SOS1
357.4HRAS, GAB1, RAF1, MAP2K1, MAP2K2, AKT1
367.4HRAS, GAB1, RAF1, MAP2K1, MAP2K2, AKT1
377.4HRAS, NF1, RAF1, GSK3B, MAP2K1, MAP2K2
38
Show member pathways
IL-9 Signaling Pathway36
Development Thrombopoietin regulated cell processes58
IL-7 Signaling Pathway36
Immune response IL 9 signaling pathway58
7.3HRAS, RAF1, GSK3B, MAP2K1, MAP2K2, AKT1
39
Show member pathways
Immune response BCR pathway58
Fc-epsilon receptor I signaling in mast cells36
7.3PIK3CA, MAP2K1, MAP2K2, BRAF, SOS1, GSK3B
40
Show member pathways
7.3GAB1, RAF1, GSK3B, MAP2K1, MAP2K2, AKT1
41
Show member pathways
Signaling events mediated by Stem cell factor receptor (c-Kit)36
7.3HRAS, GAB1, RAF1, GSK3B, MAP2K1, MAP2K2
42
Show member pathways
Integrin-mediated cell adhesion36
Focal Adhesion36
7.3PIK3CA, PIK3R1, HRAS, GAB1, RAF1, GSK3B
43
Show member pathways
ErbB receptor signaling network36
ErbB signaling pathway36
7.3HRAS, GAB1, RAF1, GSK3B, MAP2K1, MAP2K2
44
Show member pathways
Prolactin Signaling Pathway36
Development Prolactin receptor signaling58
Leptin signaling pathway36
7.3HRAS, RAF1, GSK3B, MAP2K1, MAP2K2, AKT1
45
Show member pathways
7.1AKT1, BRAF, SOS1, PTPN11, PIK3R1, PIK3CA
46
Show member pathways
Development EGFR signaling via PIP358
Development PDGF signaling via MAPK cascades58
Apoptosis and survival Anti apoptotic action of membrane bound ESR158
Signaling of Hepatocyte Growth Factor Receptor36
Development EGFR signaling via small GTPases58
Development Neurotrophin family signaling58
Apoptosis and survival NGF signaling pathway58
Apoptosis and survival Role of CDK5 in neuronal death and survival58
7.1PIK3CA, PIK3R1, HRAS, GAB1, RAF1, GSK3B
477.1HRAS, GAB1, RAF1, GSK3B, MAP2K1, MAP2K2
48
Show member pathways
7.1HRAS, GAB1, NF1, RAF1, MAP2K1, MAP2K2
49
Show member pathways
Signaling Pathways in Glioblastoma36
6.9HRAS, GAB1, NF1, RAF1, GSK3B, MAP2K1
50
Show member pathways
Transcription Receptor mediated HIF regulation58
Development CNTF receptor signaling58
Class IB PI3K non-lipid kinase events36
ErbB2/ErbB3 signaling events36
Development Growth hormone signaling via PI3K AKT and MAPK cascades58
Translation Regulation activity of EIF258
Regulation of lipid metabolism Insulin signaling generic cascades58
Transcription PPAR Pathway58
Cell adhesion PLAU signaling58
Translation Regulation activity of EIF4F58
6.9PIK3R1, PIK3CA, PTPN1, HRAS, GAB1, RAF1

Compounds for genes affiliated with Leopard Syndrome

About this section

Compounds related to Leopard Syndrome according to GeneCards Suite gene sharing:

(show top 50)    (show all 154)
idCompoundScoreTop Affiliating Genes
1trametinib49 1210.6MAP2K1, BRAF, MAP2K2
2phenylalanine439.4HRAS, PIK3R1, PTPN11, GAB1, PTPN1, BRAF
3gp 130439.3PIK3R1, PTPN11, MAP2K1, GAB1, HRAS
4ptdins(3)p439.3PIK3CA, PIK3R1, CDKN3, AKT1
5ag 1478439.2PIK3CA, PTPN11, AKT1, MAP2K1, RAF1
6imatinib43 49 1211.0PTPN1, PTPN11, BRAF, PIK3CA, MAP2K1, RAF1
7phosphatidylinositol-3,4,5-trisphosphate43 249.9GAB1, PIK3CA, PIK3R1, PTPN11, AKT1, CDKN3
8sodium orthovanadate43 599.8PTPN1, PTPN11, ACP1, RAF1, CDKN3
9agar438.7MAP2K1, HRAS, RAF1, AKT1, BRAF, PTPN11
10gtp43 289.6SOS1, BRAF, AKT1, RAF1, PIK3R1, HRAS
11forskolin43 49 1210.6NF1, PTPN11, PIK3R1, RAF1, BRAF, MAP2K1
12pd 98,059438.6HRAS, MAP2K2, PIK3CA, PIK3R1, AKT1, BRAF
13vanadate438.3CDKN3, MAP2K1, ACP1, PTPN11, PTPN1
14glucose438.3BRAF, AKT1, MAP2K1, GAB1, HRAS, PTPN1
15sb 20358043 599.3PTPN11, RAF1, BRAF, AKT1, ACP1, PIK3R1
1612-o-tetradecanoylphorbol 13-acetate438.3BRAF, HRAS, RAF1, MAP2K1, ACP1, DSP
17cyclic amp43 249.2NF1, HRAS, PIK3R1, MAP2K1, GSK3B, BRAF
18cytochalasin d43 599.2CDKN3, NF1, RAF1, ACP1, AKT1, PTPN1
19adp43 28 2410.2MAP2K1, PTPN11, PIK3CA, GSK3B, AKT1, BRAF
20glycogen43 249.1PIK3R1, PIK3CA, CDKN3, PTPN11, PTPN1, MAP2K1
21aspartate438.0RAF1, HRAS, CDKN3, ACP1, PIK3R1, BRAF
22testosterone43 59 24 1211.0CDKN3, PIK3R1, GSK3B, PIK3CA, PTPN1, AKT1
23herbimycin a43 599.0AKT1, ACP1, PTPN11, HRAS, CDKN3, MAP2K1
24okadaic acid43 599.0ACP1, PIK3CA, PIK3R1, CDKN3, RAF1, MAP2K1
25progesterone43 28 59 24 1211.9PIK3CA, GSK3B, MAP2K1, NF1, DSP, BRAF
26inositol437.8GAB1, ACP1, GSK3B, CDKN3, PTPN11, AKT1
27etoposide43 49 59 1210.8AKT1, CDKN3, MAP2K1, ACP1, PTPN11, PIK3R1
28nmda43 288.7HRAS, CDKN3, MAP2K1, ACP1, AKT1, PIK3CA
29genistein43 28 59 2 24 1212.6CDKN3, HRAS, MAP2K1, RAF1, AKT1, PIK3R1
30atp43 288.6MAP2K1, PIK3R1, PIK3CA, PTPN1, PTPN11, BRAF
31cisplatin43 49 59 1210.5ACP1, PTPN11, RAF1, MAP2K1, HRAS, CDKN3
32lipid437.4SOS1, PIK3CA, PIK3R1, PTPN1, PTPN11, FBN1
33phosphotyrosine437.4ACP1, RAF1, MAP2K1, PTPN11, PTPN1, PIK3R1
34h2o2437.3PTPN1, PIK3CA, HRAS, RAF1, CDKN3, PIK3R1
35arginine437.2ACP1, BRAF, AKT1, PTPN11, FBN1, MAP2K1
36cycloheximide437.1AKT1, CDKN3, RAF1, MAP2K1, MAP2K2, ACP1
37glutamate437.1CDKN3, PTPN11, BRAF, ACP1, MAP2K1, FBN1
38ly294002437.1HRAS, CDKN3, BRAF, AKT1, ACP1, MAP2K1
39vegf437.1CDKN3, HRAS, PIK3CA, PIK3R1, GAB1, RAF1
40rapamycin436.9RAF1, MAP2K1, ACP1, NF1, CDKN3, HRAS
41cysteine436.8CDKN3, NF1, RAF1, ACP1, AKT1, PTPN11
42phosphoinositide436.8GAB1, CDKN3, HRAS, RAF1, MAP2K1, PTPN11
43wortmannin436.8HRAS, CDKN3, GAB1, RAF1, MAP2K1, MAP2K2
44retinoic acid43 247.6AKT1, PIK3CA, CDKN3, HRAS, FBN1, BRAF
45alanine436.5NF1, RAF1, GSK3B, MAP2K1, ACP1, AKT1
46estrogen436.4FBN1, ACP1, AKT1, BRAF, RAF1, NF1
47threonine436.2PIK3CA, PIK3R1, PTPN1, GAB1, HRAS, PTPN11
48phosphatidylinositol435.4NF1, GAB1, CDKN3, HRAS, RAF1, GSK3B
49serine434.7ACP1, MAP2K2, MAP2K1, GSK3B, RAF1, NF1
50tyrosine434.7PTPN11, GSK3B, MAP2K1, MAP2K2, ACP1, AKT1

GO Terms for genes affiliated with Leopard Syndrome

About this section

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

idNameGO IDScoreTop Affiliating Genes
11-phosphatidylinositol-4-phosphate 3-kinase, class IA complexGO:000594310.0PIK3R1, PIK3CA
2phosphatidylinositol 3-kinase complexGO:000594210.0PIK3CA, PIK3R1
3perinuclear region of cytoplasmGO:00484718.3MAP2K1, GSK3B, CDKN3, HRAS, MAP2K2
4plasma membraneGO:00058867.4PTPN1, SOS1, BRAF, PIK3CA, HRAS, DSP
5cytosolGO:00058297.0GSK3B, PTPN1, PTPN11, SOS1, BRAF, AKT1
6nucleusGO:00056346.7MAP2K1, HRAS, SHOC2, PTPN11, BRAF, MAP2K2
7cytoplasmGO:00057376.2PTPN11, HRAS, NF1, SHOC2, RAF1, GSK3B

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

(show all 42)
idNameGO IDScoreTop Affiliating Genes
1regulation of synaptic transmission, GABAergicGO:003222810.1NF1, HRAS
2negative regulation of protein complex assemblyGO:003133310.1RAF1, GSK3B
3striated muscle cell differentiationGO:005114610.1HRAS, AKT1
4regulation of interferon-gamma-mediated signaling pathwayGO:006033410.1PTPN11, PTPN1
5labyrinthine layer developmentGO:006071110.0MAP2K1, GAB1
6regulation of Ras GTPase activityGO:003231810.0SOS1, NF1
7regulation of Golgi inheritanceGO:009017010.0MAP2K1, MAP2K2
8regulation of early endosome to late endosome transportGO:0200064110.0MAP2K1, MAP2K2
9regulation of stress-activated MAPK cascadeGO:003287210.0MAP2K1, MAP2K2
10insulin-like growth factor receptor signaling pathwayGO:004800910.0PIK3R1, AKT1
11negative regulation of cell-matrix adhesionGO:00019539.9NF1, PIK3R1
12organ morphogenesisGO:00098879.9HRAS, GSK3B, BRAF
13wound healingGO:00420609.9DSP, RAF1, NF1
14protein heterooligomerizationGO:00512919.9HRAS, MAP2K1, BRAF
15T cell costimulationGO:00312959.8AKT1, PTPN11, PIK3R1, PIK3CA
16peptidyl-tyrosine dephosphorylationGO:00353359.8CDKN3, PTPN11, PTPN1
17positive regulation of Ras protein signal transductionGO:00465799.7MAP2K1, SHOC2
18activation of MAPK activityGO:00001879.7PTPN11, MAP2K2, MAP2K1
19leukocyte migrationGO:00509009.6PIK3CA, PIK3R1, PTPN11, SOS1, HRAS
20positive regulation of peptidyl-serine phosphorylationGO:00331389.5PIK3CA, BRAF, AKT1, GSK3B, RAF1
21negative regulation of neuron apoptotic processGO:00435249.5HRAS, BRAF, PIK3CA
22protein phosphorylationGO:00064689.5PIK3R1, BRAF, AKT1, GSK3B, RAF1
23negative regulation of apoptotic processGO:00430669.5PIK3R1, BRAF, AKT1, GSK3B, RAF1
24activation of MAPKK activityGO:00001869.5BRAF, MAP2K2, MAP2K1, RAF1, HRAS
25heart developmentGO:00075079.4FBN1, PTPN11, RAF1, NF1, GAB1
26cell proliferationGO:00082839.3AKT1, MAP2K1, RAF1, GAB1, HRAS
27platelet activationGO:00301689.3PIK3CA, PIK3R1, PTPN1, SOS1, AKT1, RAF1
28phosphatidylinositol-mediated signalingGO:00480159.2PIK3CA, PIK3R1, PTPN11, AKT1, GSK3B, GAB1
29MAPK cascadeGO:00001659.2MAP2K2, MAP2K1, RAF1, NF1, HRAS
30positive regulation of apoptotic processGO:00430659.1SOS1, AKT1, CSRNP3, NF1
31small GTPase mediated signal transductionGO:00072649.1SOS1, BRAF, MAP2K2, MAP2K1, RAF1, HRAS
32positive regulation of transcription from RNA polymerase II promoterGO:00459448.9PIK3R1, AKT1, CSRNP3, GSK3B, HRAS
33blood coagulationGO:00075968.9PIK3CA, PIK3R1, PTPN1, PTPN11, SOS1, AKT1
34negative regulation of cell proliferationGO:00082858.8MAP2K1, RAF1, CDKN3, HRAS
35axon guidanceGO:00074118.8PTPN11, SOS1, MAP2K2, MAP2K1, GSK3B, RAF1
36Ras protein signal transductionGO:00072658.7SHOC2, SOS1, MAP2K2, MAP2K1, RAF1, NF1
37insulin receptor signaling pathwayGO:00082867.9AKT1, MAP2K2, MAP2K1, RAF1, GAB1, HRAS
38Fc-epsilon receptor signaling pathwayGO:00380957.7PIK3CA, PIK3R1, PTPN11, SOS1, AKT1, MAP2K2
39epidermal growth factor receptor signaling pathwayGO:00071737.7PIK3CA, PIK3R1, PTPN11, SOS1, AKT1, MAP2K2
40innate immune responseGO:00450877.7PIK3CA, PIK3R1, PTPN11, SOS1, AKT1, MAP2K2
41neurotrophin TRK receptor signaling pathwayGO:00480117.5HRAS, GAB1, PIK3CA, PIK3R1, PTPN11, SOS1
42fibroblast growth factor receptor signaling pathwayGO:00085437.3PIK3CA, PIK3R1, SHOC2, PTPN11, SOS1, BRAF

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1insulin receptor bindingGO:000515810.0PIK3R1, PTPN1, PTPN11
2insulin receptor substrate bindingGO:004356010.0PTPN11, PIK3R1, PIK3CA
3small GTPase bindingGO:003126710.0RAF1, BRAF
4mitogen-activated protein kinase kinase bindingGO:00314349.8RAF1, BRAF
5kinase activityGO:00163019.7GSK3B, AKT1, PIK3CA
6protein serine/threonine kinase activator activityGO:00435399.7MAP2K2, MAP2K1
7MAP kinase kinase activityGO:00047089.7MAP2K1, MAP2K2
8non-membrane spanning protein tyrosine phosphatase activityGO:00047269.6ACP1, PTPN11
9protein tyrosine phosphatase activityGO:00047259.5CDKN3, PTPN11, PTPN1
10protein kinase activityGO:00046729.4BRAF, AKT1, MAP2K1, RAF1
11protein serine/threonine kinase activityGO:00046748.5PIK3CA, BRAF, AKT1, MAP2K2, MAP2K1, GSK3B
12ATP bindingGO:00055248.4PIK3CA, BRAF, AKT1, MAP2K2, MAP2K1, GSK3B
13protein bindingGO:00055154.5HRAS, PIK3CA, PIK3R1, FBN1, PTPN1, PTPN11

Products for genes affiliated with Leopard Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Leopard Syndrome

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet