MCID: LPR002
MIFTS: 73

Leopard Syndrome malady

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

Summaries for Leopard Syndrome

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44NIH Rare Diseases, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
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NIH Rare Diseases:44 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: Leopard Syndrome, also known as multiple lentigines syndrome, is related to leopard syndrome 1 and neurofibromatosis, and has symptoms including hyperkeratosis/ainhum/hyperkeratotic skin fissures, sensorineural deafness/hearing loss and short stature/dwarfism/nanism. An important gene associated with Leopard Syndrome is RAF1 (v-raf-1 murine leukemia viral oncogene homolog 1), and among its related pathways are Insulin Pathway and IGF1 pathway. 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.

Wikipedia:66 LEOPARD syndrome (also known as Cardiocutaneous syndrome, Gorlin syndrome II, Lentiginosis profusa... more...

Description from OMIM:48 613707,151100,611554,203600

GeneReviews summary for leopard

Aliases & Classifications for Leopard Syndrome

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9Disease Ontology, 20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 11DISEASES, 46Novoseek, 50Orphanet, 48OMIM, 63UMLS, 59SNOMED-CT, 41NCIt, 36MeSH, 64UMLS via Orphanet, 60SNOMED-CT via Orphanet
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Classifications:



Aliases & Descriptions:

leopard syndrome 9 20 44 21 23 22 11 46 63
multiple lentigines syndrome 9 20 44 22
moynahan syndrome 9 22 50 48
cardiomyopathic lentiginosis 20 44 22
progressive cardiomyopathic lentiginosis 9 22
lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, deafnes 44
alopecia-epilepsy-oligophrenia syndrome, moynahan type 50
capute-rimoin-konigsmark-esterly-richardson syndrome 9
alopecia epilepsy oligophrenia syndrome of moynahan 63
progressive cardiomyopathic lentiginosis syndrome 63
noonan syndrome with multiple lentigines 22
lentiginosis profusa syndrome 9
cardio-cutaneous syndrome 22
basal cell nevus syndrome 63
generalized lentiginosis 9
cardiocutaneous syndrome 9
diffuse lentiginosis 22
lentiginosis profusa 22
gorlin syndrome ii 9


External Ids:

Disease Ontology9 DOID:14291
NCIt41 C84820
MeSH36 D044542
UMLS via Orphanet64 C0265328
SNOMED-CT via Orphanet60 45167004

Related Diseases for Leopard Syndrome

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Sources:
18GeneCards, 19GeneDecks
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Diseases in the Leopard Syndrome family:

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

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

(show top 50)    (show all 114)
idRelated DiseaseScoreTop Affiliating Genes
1leopard syndrome 130.8PTPN11
2neurofibromatosis30.5PTPN11, NF1, HRAS
3noonan syndrome30.2NF1, HRAS, RAF1, SHOC2, PTPN11, SOS1
4neurofibromatosis-noonan syndrome30.1NF1, PTPN11
5leukemia29.9PIK3CA, HRAS, PIK3R1, PTPN1, PTPN11, AKT1
6melanoma29.9AKT1, RAF1, MAP2K1, ACP1, PIK3CA, PIK3R1
7short stature29.7PTPN11, FBN1, SOS1, BRAF, HRAS, NF1
8hypertrophic cardiomyopathy10.5
9familial generalized lentiginosis10.4
10myoblastoma10.3
11leopard syndrome 210.2
12leopard syndrome 310.2
13granular cell tumor10.2
14ptpn11-related leopard syndrome10.2
15raf1-related leopard syndrome10.2
16braf-related leopard syndrome10.2
17alopecia epilepsy oligophrenia syndrome of moynahan10.1
18renal agenesis10.1
19unilateral renal agenesis10.1
20aorto-right ventricular tunnel10.1
21noonan syndrome 110.1PTPN11
22naxos disease10.1
23proteus syndrome10.1CDKN3
24spitz nevus10.1HRAS, BRAF
25pilocytic astrocytoma10.1NF1
26lafora disease10.1CDKN3, ACP1
27bubonic plague10.1PTPN1, ACP1, CDKN3
28pulmonary valve stenosis10.1PTPN11, SOS1
29thyroid adenoma10.1BRAF, RAF1, PIK3CA
30kidney rhabdoid cancer10.1RAF1, BRAF, PIK3CA
31papillary thyroid carcinoma10.1HRAS, BRAF, RAF1
32juvenile myelomonocytic leukemia10.1PTPN11, NF1
33ovarian cancer, somatic10.1AKT1, PIK3CA
34developmental disabilities10.1BRAF, PTPN11, HRAS, RAF1
35cholangiocarcinoma10.1BRAF, PIK3CA, RAF1
36perineurioma10.1DSP
37thyroid cancer10.1PIK3CA, BRAF, HRAS
38colorectal cancer, somatic10.1AKT1, PIK3CA
39ataxia telangiectasia10.1PIK3R1, CDKN3, PIK3CA
40lung adenocarcinoma10.1BRAF, RAF1, HRAS, PIK3CA
41skin benign neoplasm10.0BRAF, NF1, HRAS
42lung cancer10.0AKT1, HRAS, PIK3CA
43congenital heart disease10.0PIK3CA, PTPN11, DSP, ACP1
44polycystic kidney disease, autosomal dominant10.0FBN1, BRAF, RAF1
45myeloproliferative disorder10.0HRAS, NF1, PTPN11
46hepatitis c10.0PIK3R1, SOS1, RAF1, PTPN11
47familial adenomatous polyposis10.0BRAF, ACP1, GSK3B
48hyperinsulinism10.0AKT1, PTPN1, CDKN3, PIK3R1
49breast cancer10.0ACP1, PIK3CA, AKT1, HRAS
50endometrial carcinoma10.0BRAF, AKT1, CDKN3, PIK3CA

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



Diseases related to leopard syndrome

Symptoms for Leopard Syndrome

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

203600

Clinical features from OMIM:

613707,151100,611554,203600

Symptoms:

50 (show all 11)
  • hyperkeratosis/ainhum/hyperkeratotic skin fissures
  • sensorineural deafness/hearing loss
  • short stature/dwarfism/nanism
  • wasted (excluding lipodystrophy)/poorly muscled build/cachexy
  • seizures/epilepsy/absences/spasms/status epilepticus
  • late puberty/hypogonadism/hypogenitalism
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • microcephaly
  • autosomal recessive inheritance
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • alopecia

Drugs & Therapeutics for Leopard Syndrome

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Leopard Syndrome

Drug clinical trials:

Search ClinicalTrials for Leopard Syndrome

Search NIH Clinical Center for Leopard Syndrome

Search CenterWatch for Leopard Syndrome

Genetic Tests for Leopard Syndrome

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21GeneTests, 23GTR
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Genetic tests related to Leopard Syndrome:

id Genetic test Affiliating Genes
1 Leopard Syndrome21 23 RAF1

Anatomical Context for Leopard Syndrome

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34MalaCards
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MalaCards organs/tissues related to Leopard Syndrome:

34
Skin, Heart, Eye

Animal Models for Leopard Syndrome or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Leopard Syndrome:

38 (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

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53PubMed
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Articles related to Leopard Syndrome:

(show top 50)    (show all 121)
idTitleAuthorsYear
1
LEOPARD syndrome with Wolff-Parkinson-White syndrome on electrocardiography. (24177621)
2013
2
Syndromic Hearing Loss in Association with PTPN11-Related Disorder: The Experience of Cochlear Implantation in a Child with LEOPARD Syndrome. (23799168)
2013
3
Structural and mechanistic insights into LEOPARD syndrome-associated SHP2 mutations. (23457302)
2013
4
Scalp melanoma in a woman with LEOPARD syndrome: possible implication of PTPN11 signaling in melanoma pathogenesis. (24034393)
2013
5
New approaches to prevent LEOPARD syndrome-associated cardiac hypertrophy by specifically targeting Shp2-dependent signaling. (23673659)
2013
6
RASopathies: From Noonan to LEOPARD Syndrome. (23830833)
2013
7
LEOPARD syndrome with rare skeletal anomalies: A case report. (24082226)
2013
8
LEOPARD Syndrome Caused by Tyr279Cys Mutation in the PTPN11 Gene. (22822385)
2012
9
Two cases of LEOPARD syndrome--RAF1 mutations firstly described in children. (22389993)
2011
10
LEOPARD Syndrome with PTPN11 Gene Mutation Showing Six Cardinal Symptoms of LEOPARD. (21747628)
2011
11
Implantable cardioverter defibrillator for progressive hypertrophic cardiomyopathy in a patient with LEOPARD syndrome and a novel PTPN11 mutation Gln510His. (21910226)
2011
12
A familial case of LEOPARD syndrome associated with a high-functioning autism spectrum disorder. (21093184)
2011
13
An uncommon association between skin lesions and LEOPARD syndrome affected an old patient. Case report. (21657161)
2011
14
Phosphatase-dependent and -independent functions of Shp2 in neural crest cells underlie LEOPARD syndrome pathogenesis. (20493809)
2010
15
Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome. (20535210)
2010
16
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
17
Generalized lentiginosis, short stature, and multiple cutaneous nodules--quiz case. LEOPARD syndrome (LS) associated with multiple granular cell tumors (GCTs). (20231512)
2010
18
Coronary artery dilation in LEOPARD syndrome: surveillance with low radiation dose cardiac CT. (20801861)
2010
19
Leopard syndrome and Chiari type I malformation: a case report and review of the literature. (19131856)
2009
20
IMAGE CARDIO MED. A patient with LEOPARD syndrome and PTPN11 mutation. (19273734)
2009
21
Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development. (18849586)
2009
22
Phenotype-genotype correlation in a patient with co-occurrence of Marfan and LEOPARD syndromes. (19725129)
2009
23
Visual function in Noonan and LEOPARD syndrome. (19568997)
2008
24
Common acute lymphoblastic leukemia in a girl with genetically confirmed LEOPARD syndrome. (18799937)
2008
25
Leopard syndrome. (18505544)
2008
26
Severe cerebral calcification in a case of LEOPARD syndrome. (18981639)
2008
27
Acute myelomonocytic leukemia in a boy with LEOPARD syndrome (PTPN11 gene mutation positive). (16679933)
2006
28
Reduced phosphatase activity of SHP-2 in LEOPARD syndrome: consequences for PI3K binding on Gab1. (16638574)
2006
29
Is sudden cardiac death predictable in LEOPARD syndrome? (17116277)
2006
30
LEOPARD syndrome: clinical diagnosis in the first year of life. (16523510)
2006
31
PTPN11 mutations and genotype-phenotype correlations in Noonan and LEOPARD syndromes. (16208280)
2005
32
Anaesthetic implications of LEOPARD syndrome. (15078383)
2004
33
LEOPARD syndrome: a new polyaneurysm association and an update on the molecular genetics of the disease. (15071461)
2004
34
A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndrome. (15470362)
2004
35
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
36
PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience. (15520399)
2004
37
Intense pulsed light for the treatment of lentigines in LEOPARD syndrome. (12946381)
2003
38
PTPN11 mutations in LEOPARD syndrome. (12161596)
2002
39
Leopard syndrome. (11599630)
2001
40
Leopard syndrome--report of a variant case. (10863481)
1999
41
Partial agenesis of corpus callosum in LEOPARD syndrome. (10583620)
1999
42
Leopard syndrome. (10551509)
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

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Leopard Syndrome:

1
id Gene Name 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
5RAF1NM_002880.3(RAF1): c.770C> T (p.Ser257Leu)single nucleotide variantPathogenicrs80338796GRCh37Chr 3, 12645699: 12645699
6RAF1NM_002880.3(RAF1): c.1837C> G (p.Leu613Val)single nucleotide variantPathogenicrs80338797GRCh37Chr 3, 12626123: 12626123
7BRAFNM_004333.4(BRAF): c.721A> C (p.Thr241Pro)single nucleotide variantPathogenicrs387906661GRCh37Chr 7, 140501351: 140501351
8BRAFNM_004333.4(BRAF): c.735A> T (p.Leu245Phe)single nucleotide variantLikely pathogenic, Pathogenicrs397507466GRCh37Chr 7, 140501337: 140501337

Expression for genes affiliated with Leopard Syndrome

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Leopard Syndrome

Search GEO for disease gene expression data for Leopard Syndrome.

Pathways for genes affiliated with Leopard Syndrome

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Sources:
51PathCards, 62Tocris Bioscience, 39NCBI BioSystems Database, 52PharmGKB, 61Thomson Reuters, 56Reactome, 54QIAGEN, 31KEGG, 13EMD Millipore, 55R&D Systems
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Pathways related to Leopard Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 236)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Insulin Pathway39
8.7HRAS, SOS1, AKT1, PTPN11, PTPN1, PIK3R1
28.5AKT1, SOS1, PTPN11, PTPN1, PIK3R1, PIK3CA
38.4HRAS, RAF1, MAP2K1, MAP2K2, AKT1, PIK3R1
4
Show member pathways
8.2PIK3CA, PIK3R1, BRAF, AKT1, HRAS, RAF1
5
Show member pathways
8.0RAF1, GSK3B, MAP2K1, MAP2K2, AKT1, BRAF
6
Show member pathways
Translation Non genomic rapid action of Androgen Receptor61
8.0PIK3CA, PIK3R1, SOS1, AKT1, RAF1, GSK3B
7
Show member pathways
Development VEGF signaling via VEGFR2 generic cascades61
8.0HRAS, NF1, RAF1, MAP2K1, MAP2K2, AKT1
8
Show member pathways
MAPK Cascade39
Immune response Oncostatin M signaling via MAPK in human cells61
Oncostatin M Signaling Pathway39
8.0PIK3R1, PTPN11, SOS1, HRAS, RAF1, MAP2K1
9
Show member pathways
EPO Receptor Signaling39
EPO signaling pathway39
7.9HRAS, GAB1, RAF1, MAP2K1, MAP2K2, AKT1
10
Show member pathways
Development A2B receptor action via G protein alpha s61
7.9HRAS, GSK3B, MAP2K1, MAP2K2, AKT1, BRAF
11
Show member pathways
7.9PIK3R1, SOS1, BRAF, AKT1, HRAS, GAB1
12
Show member pathways
Prostate Cancer39
Integrated Cancer pathway39
Steroid Biosynthesis39
7.9PIK3CA, PTPN11, SOS1, HRAS, GAB1, RAF1
13
Show member pathways
Immune response IL 3 activation and signaling pathway61
7.9HRAS, RAF1, MAP2K1, MAP2K2, AKT1, SOS1
14
Show member pathways
IL-2 Signaling pathway39
7.9PIK3CA, PIK3R1, HRAS, RAF1, MAP2K1, MAP2K2
15
Show member pathways
Apoptosis and survival BAD phosphorylation61
Development Alpha 2 adrenergic receptor activation of ERK61
Chemotaxis CXCR4 signaling pathway61
7.9HRAS, RAF1, MAP2K1, MAP2K2, AKT1, SOS1
16
Show member pathways
PLK2 and PLK4 events39
Polo-like kinase signaling events in the cell cycle39
7.9SOS1, PIK3R1, PIK3CA, BRAF, AKT1, MAP2K2
177.9PIK3CA, PIK3R1, SOS1, GAB1, RAF1, MAP2K1
18
Show member pathways
7.8HRAS, RAF1, GSK3B, MAP2K1, MAP2K2, AKT1
19
Show member pathways
7.8PIK3R1, PIK3CA, PTPN11, SOS1, BRAF, HRAS
20
Show member pathways
Immune response T cell receptor signaling pathway61
Immune response CD28 signaling61
Immune response ICOS pathway in T helper cell61
7.7SOS1, PIK3R1, PIK3CA, AKT1, MAP2K2, MAP2K1
21
Show member pathways
7.7HRAS, RAF1, MAP2K1, MAP2K2, AKT1, BRAF
22
Show member pathways
7.7MAP2K1, MAP2K2, AKT1, SOS1, PTPN11, PIK3R1
23
Show member pathways
Development Flt3 signaling61
7.7MAP2K2, AKT1, SOS1, PTPN11, PIK3R1, PIK3CA
24
Show member pathways
Development ERBB family signaling61
Development GDNF family signaling61
7.7PIK3CA, PIK3R1, HRAS, GAB1, RAF1, MAP2K1
257.6PTPN1, PIK3R1, PIK3CA, PTPN11, SOS1, AKT1
267.6HRAS, GAB1, RAF1, GSK3B, MAP2K1, AKT1
277.6GAB1, RAF1, GSK3B, MAP2K1, MAP2K2, AKT1
287.6HRAS, GAB1, RAF1, GSK3B, MAP2K1, MAP2K2
29
Show member pathways
7.6HRAS, GAB1, RAF1, GSK3B, MAP2K1, MAP2K2
30
Show member pathways
BCR signaling pathway39
TCR Signaling Pathway39
7.5MAP2K2, AKT1, SOS1, PTPN11, PIK3R1, PIK3CA
31
Show member pathways
Signal transduction PTEN pathway61
7.5HRAS, RAF1, GSK3B, MAP2K1, MAP2K2, BRAF
32
Show member pathways
Immune response IL 4 signaling pathway61
Signal transduction AKT signaling61
7.5GSK3B, MAP2K1, MAP2K2, AKT1, SOS1, PIK3R1
337.5HRAS, GAB1, RAF1, MAP2K1, MAP2K2, AKT1
347.5HRAS, GAB1, PTPN11, PIK3R1, PIK3CA, 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 Pathway39
Development Thrombopoietin regulated cell processes61
IL-7 Signaling Pathway39
Immune response IL 9 signaling pathway61
7.3HRAS, RAF1, GSK3B, MAP2K1, MAP2K2, AKT1
39
Show member pathways
Immune response BCR pathway61
Fc-epsilon receptor I signaling in mast cells39
7.3HRAS, RAF1, GSK3B, MAP2K1, MAP2K2, AKT1
40
Show member pathways
Signaling events mediated by Stem cell factor receptor (c-Kit)39
7.3GAB1, RAF1, GSK3B, MAP2K1, MAP2K2, AKT1
41
Show member pathways
7.3HRAS, GAB1, RAF1, GSK3B, MAP2K1, MAP2K2
42
Show member pathways
Integrin-mediated cell adhesion39
Focal Adhesion39
7.3HRAS, GAB1, RAF1, GSK3B, MAP2K1, MAP2K2
43
Show member pathways
ErbB receptor signaling network39
ErbB signaling pathway39
7.3HRAS, GAB1, RAF1, GSK3B, MAP2K1, MAP2K2
44
Show member pathways
Prolactin Signaling Pathway39
Development Prolactin receptor signaling61
Leptin signaling pathway39
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 PIP361
Development PDGF signaling via MAPK cascades61
Apoptosis and survival Anti apoptotic action of membrane bound ESR161
Signaling of Hepatocyte Growth Factor Receptor39
Development EGFR signaling via small GTPases61
Development Neurotrophin family signaling61
Apoptosis and survival NGF signaling pathway61
Apoptosis and survival Role of CDK5 in neuronal death and survival61
7.1HRAS, GAB1, RAF1, GSK3B, MAP2K1, MAP2K2
477.1HRAS, GAB1, RAF1, GSK3B, MAP2K1, MAP2K2
48
Show member pathways
7.1AKT1, BRAF, SOS1, PTPN11, PIK3R1, PIK3CA
49
Show member pathways
Signaling Pathways in Glioblastoma39
6.9GSK3B, MAP2K1, MAP2K2, AKT1, BRAF, SOS1
50
Show member pathways
Transcription Receptor mediated HIF regulation61
Development CNTF receptor signaling61
Class IB PI3K non-lipid kinase events39
ErbB2/ErbB3 signaling events39
Development Growth hormone signaling via PI3K AKT and MAPK cascades61
Translation Regulation activity of EIF261
Regulation of lipid metabolism Insulin signaling generic cascades61
Transcription PPAR Pathway61
Cell adhesion PLAU signaling61
Translation Regulation activity of EIF4F61
6.9PIK3CA, PIK3R1, HRAS, GAB1, RAF1, GSK3B

Compounds for genes affiliated with Leopard Syndrome

About this section
Sources:
52PharmGKB, 12DrugBank, 46Novoseek, 25HMDB, 62Tocris Bioscience, 30IUPHAR, 3BitterDB
See all sources

Compounds related to Leopard Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 154)
idCompoundScoreTop Affiliating Genes
1trametinib52 1210.6MAP2K1, BRAF, MAP2K2
2phenylalanine469.4HRAS, PIK3R1, PTPN11, GAB1, PTPN1, BRAF
3gp 130469.3PIK3R1, PTPN11, MAP2K1, GAB1, HRAS
4ptdins(3)p469.3PIK3CA, PIK3R1, CDKN3, AKT1
5ag 1478469.2PIK3CA, PTPN11, AKT1, MAP2K1, RAF1
6imatinib46 52 1211.0PTPN1, PTPN11, BRAF, PIK3CA, MAP2K1, RAF1
7phosphatidylinositol-3,4,5-trisphosphate46 259.9GAB1, PIK3CA, PIK3R1, PTPN11, AKT1, CDKN3
8sodium orthovanadate46 629.8PTPN1, PTPN11, ACP1, RAF1, CDKN3
9agar468.7MAP2K1, HRAS, RAF1, AKT1, BRAF, PTPN11
10gtp46 309.6SOS1, BRAF, AKT1, RAF1, PIK3R1, HRAS
11forskolin46 52 1210.6NF1, PTPN11, PIK3R1, RAF1, BRAF, MAP2K1
12pd 98,059468.6HRAS, MAP2K2, PIK3CA, PIK3R1, AKT1, BRAF
13vanadate468.3CDKN3, MAP2K1, ACP1, PTPN11, PTPN1
14glucose468.3BRAF, AKT1, MAP2K1, GAB1, HRAS, PTPN1
15sb 20358046 629.3PTPN11, RAF1, BRAF, AKT1, ACP1, PIK3R1
1612-o-tetradecanoylphorbol 13-acetate468.3BRAF, HRAS, RAF1, MAP2K1, ACP1, DSP
17cyclic amp46 259.2NF1, HRAS, PIK3R1, MAP2K1, GSK3B, BRAF
18cytochalasin d46 629.2CDKN3, NF1, RAF1, ACP1, AKT1, PTPN1
19adp46 30 2510.2MAP2K1, PTPN11, PIK3CA, GSK3B, AKT1, BRAF
20glycogen46 259.1PIK3R1, PIK3CA, CDKN3, PTPN11, PTPN1, MAP2K1
21aspartate468.0RAF1, HRAS, CDKN3, ACP1, PIK3R1, BRAF
22testosterone46 62 25 1211.0CDKN3, PIK3R1, GSK3B, PIK3CA, PTPN1, AKT1
23herbimycin a46 629.0AKT1, ACP1, PTPN11, HRAS, CDKN3, MAP2K1
24okadaic acid46 629.0ACP1, PIK3CA, PIK3R1, CDKN3, RAF1, MAP2K1
25progesterone46 30 62 25 1211.9PIK3CA, GSK3B, MAP2K1, NF1, DSP, BRAF
26inositol467.8GAB1, ACP1, GSK3B, CDKN3, PTPN11, AKT1
27etoposide46 52 62 1210.8AKT1, CDKN3, MAP2K1, ACP1, PTPN11, PIK3R1
28nmda46 308.7HRAS, CDKN3, MAP2K1, ACP1, AKT1, PIK3CA
29genistein46 30 62 3 25 1212.6CDKN3, HRAS, MAP2K1, RAF1, AKT1, PIK3R1
30atp46 308.6MAP2K1, PIK3R1, PIK3CA, PTPN1, PTPN11, BRAF
31cisplatin46 52 62 1210.5ACP1, PTPN11, RAF1, MAP2K1, HRAS, CDKN3
32lipid467.4SOS1, PIK3CA, PIK3R1, PTPN1, PTPN11, FBN1
33phosphotyrosine467.4ACP1, RAF1, MAP2K1, PTPN11, PTPN1, PIK3R1
34h2o2467.3PTPN1, PIK3CA, HRAS, RAF1, CDKN3, PIK3R1
35arginine467.2ACP1, BRAF, AKT1, PTPN11, FBN1, MAP2K1
36cycloheximide467.1AKT1, CDKN3, RAF1, MAP2K1, MAP2K2, ACP1
37glutamate467.1CDKN3, PTPN11, BRAF, ACP1, MAP2K1, FBN1
38ly294002467.1HRAS, CDKN3, BRAF, AKT1, ACP1, MAP2K1
39vegf467.1CDKN3, HRAS, PIK3CA, PIK3R1, GAB1, RAF1
40rapamycin466.9RAF1, MAP2K1, ACP1, NF1, CDKN3, HRAS
41cysteine466.8CDKN3, NF1, RAF1, ACP1, AKT1, PTPN11
42phosphoinositide466.8GAB1, CDKN3, HRAS, RAF1, MAP2K1, PTPN11
43wortmannin466.8HRAS, CDKN3, GAB1, RAF1, MAP2K1, MAP2K2
44retinoic acid46 257.6AKT1, PIK3CA, CDKN3, HRAS, FBN1, BRAF
45alanine466.5NF1, RAF1, GSK3B, MAP2K1, ACP1, AKT1
46estrogen466.4FBN1, ACP1, AKT1, BRAF, RAF1, NF1
47threonine466.2PIK3CA, PIK3R1, PTPN1, GAB1, HRAS, PTPN11
48phosphatidylinositol465.4NF1, GAB1, CDKN3, HRAS, RAF1, GSK3B
49serine464.7ACP1, MAP2K2, MAP2K1, GSK3B, RAF1, NF1
50tyrosine464.7PTPN11, GSK3B, MAP2K1, MAP2K2, ACP1, AKT1

GO Terms for genes affiliated with Leopard Syndrome

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Sources:
17Gene Ontology
See all sources

Cellular components related to Leopard Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
11-phosphatidylinositol-4-phosphate 3-kinase, class IA complexGO:00594310.0PIK3R1, PIK3CA
2phosphatidylinositol 3-kinase complexGO:00594210.0PIK3CA, PIK3R1
3perinuclear region of cytoplasmGO:0484718.3MAP2K1, GSK3B, CDKN3, HRAS, MAP2K2
4plasma membraneGO:0058867.4PTPN1, SOS1, BRAF, PIK3CA, HRAS, DSP
5cytosolGO:0058297.0GSK3B, PTPN1, PTPN11, SOS1, BRAF, AKT1
6nucleusGO:0056346.7MAP2K1, HRAS, SHOC2, PTPN11, BRAF, MAP2K2
7cytoplasmGO:0057376.2PTPN11, HRAS, NF1, SHOC2, RAF1, GSK3B

Biological processes related to Leopard Syndrome according to GeneCards/GeneDecks:

(show all 42)
idNameGO IDScoreTop Affiliating Genes
1regulation of synaptic transmission, GABAergicGO:03222810.1NF1, HRAS
2striated muscle cell differentiationGO:05114610.1AKT1, HRAS
3negative regulation of protein complex assemblyGO:03133310.1GSK3B, RAF1
4regulation of interferon-gamma-mediated signaling pathwayGO:06033410.1PTPN11, PTPN1
5labyrinthine layer developmentGO:06071110.0GAB1, MAP2K1
6regulation of Ras GTPase activityGO:03231810.0NF1, SOS1
7regulation of early endosome to late endosome transportGO:200064110.0MAP2K2, MAP2K1
8regulation of Golgi inheritanceGO:09017010.0MAP2K2, MAP2K1
9regulation of stress-activated MAPK cascadeGO:03287210.0MAP2K2, MAP2K1
10insulin-like growth factor receptor signaling pathwayGO:04800910.0PIK3R1, AKT1
11negative regulation of cell-matrix adhesionGO:0019539.9NF1, PIK3R1
12organ morphogenesisGO:0098879.9BRAF, HRAS, GSK3B
13wound healingGO:0420609.9NF1, RAF1, DSP
14protein heterooligomerizationGO:0512919.9MAP2K1, BRAF, HRAS
15T cell costimulationGO:0312959.8PIK3CA, PIK3R1, AKT1, PTPN11
16peptidyl-tyrosine dephosphorylationGO:0353359.8CDKN3, PTPN11, PTPN1
17positive regulation of Ras protein signal transductionGO:0465799.7MAP2K1, SHOC2
18activation of MAPK activityGO:0001879.7MAP2K2, MAP2K1, PTPN11
19leukocyte migrationGO:0509009.6PTPN11, PIK3R1, HRAS, PIK3CA, SOS1
20positive regulation of peptidyl-serine phosphorylationGO:0331389.5BRAF, AKT1, GSK3B, PIK3CA, RAF1
21negative regulation of neuron apoptotic processGO:0435249.5BRAF, PIK3CA, HRAS
22protein phosphorylationGO:0064689.5BRAF, AKT1, RAF1, GSK3B, PIK3R1
23negative regulation of apoptotic processGO:0430669.5PIK3R1, BRAF, AKT1, GSK3B, RAF1
24activation of MAPKK activityGO:0001869.5BRAF, MAP2K2, MAP2K1, HRAS, RAF1
25heart developmentGO:0075079.4FBN1, GAB1, NF1, RAF1, PTPN11
26cell proliferationGO:0082839.3RAF1, GAB1, HRAS, MAP2K1, AKT1
27platelet activationGO:0301689.3PIK3CA, PIK3R1, RAF1, PTPN1, SOS1, AKT1
28phosphatidylinositol-mediated signalingGO:0480159.2GSK3B, GAB1, PIK3R1, PTPN11, AKT1, PIK3CA
29MAPK cascadeGO:0001659.2MAP2K2, MAP2K1, HRAS, NF1, RAF1
30positive regulation of apoptotic processGO:0430659.1AKT1, SOS1, CSRNP3, NF1
31small GTPase mediated signal transductionGO:0072649.1BRAF, SOS1, MAP2K2, HRAS, RAF1, MAP2K1
32positive regulation of transcription from RNA polymerase II promoterGO:0459448.9PIK3R1, HRAS, GSK3B, CSRNP3, AKT1
33blood coagulationGO:0075968.9AKT1, RAF1, HRAS, PIK3CA, SOS1, PTPN11
34negative regulation of cell proliferationGO:0082858.8CDKN3, MAP2K1, RAF1, HRAS
35axon guidanceGO:0074118.8RAF1, SOS1, HRAS, MAP2K2, MAP2K1, GSK3B
36Ras protein signal transductionGO:0072658.7SOS1, HRAS, RAF1, NF1, MAP2K1, SHOC2
37insulin receptor signaling pathwayGO:0082867.9HRAS, GAB1, RAF1, MAP2K1, MAP2K2, AKT1
38Fc-epsilon receptor signaling pathwayGO:0380957.7HRAS, GAB1, RAF1, GSK3B, MAP2K2, AKT1
39epidermal growth factor receptor signaling pathwayGO:0071737.7AKT1, GAB1, HRAS, RAF1, GSK3B, PIK3CA
40innate immune responseGO:0450877.7PIK3CA, GAB1, RAF1, GSK3B, MAP2K1, MAP2K2
41neurotrophin TRK receptor signaling pathwayGO:0480117.5PTPN11, BRAF, AKT1, MAP2K2, MAP2K1, GSK3B
42fibroblast growth factor receptor signaling pathwayGO:0085437.3BRAF, SOS1, PTPN11, SHOC2, PIK3R1, PIK3CA

Molecular functions related to Leopard Syndrome according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1insulin receptor bindingGO:00515810.0PTPN11, PTPN1, PIK3R1
2insulin receptor substrate bindingGO:04356010.0PIK3R1, PTPN11, PIK3CA
3small GTPase bindingGO:03126710.0RAF1, BRAF
4mitogen-activated protein kinase kinase bindingGO:0314349.8BRAF, RAF1
5kinase activityGO:0163019.7PIK3CA, GSK3B, AKT1
6protein serine/threonine kinase activator activityGO:0435399.7MAP2K2, MAP2K1
7MAP kinase kinase activityGO:0047089.7MAP2K1, MAP2K2
8non-membrane spanning protein tyrosine phosphatase activityGO:0047269.6ACP1, PTPN11
9protein tyrosine phosphatase activityGO:0047259.5CDKN3, PTPN11, PTPN1
10protein kinase activityGO:0046729.4RAF1, AKT1, MAP2K1, BRAF
11protein serine/threonine kinase activityGO:0046748.5RAF1, GSK3B, MAP2K1, AKT1, BRAF, PIK3CA
12ATP bindingGO:0055248.4AKT1, RAF1, MAP2K1, MAP2K2, BRAF, PIK3CA
13protein bindingGO:0055154.5SOS1, PTPN1, HRAS, CDKN3, GAB1, NF1

Products for genes affiliated with Leopard Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Leopard Syndrome

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet