MCID: LPR002
MIFTS: 54

Leopard Syndrome

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

Aliases & Classifications for Leopard Syndrome

MalaCards integrated aliases for Leopard Syndrome:

Name: Leopard Syndrome 12 50 24 52 42 14 38 69
Multiple Lentigines Syndrome 12 50 24
Cardiomyopathic Lentiginosis 50 24
Lentigines, Electrocardiographic Conduction Abnormalities, Ocular Hypertelorism, Pulmonic Stenosis, Abnormal Genitalia, Retardation of Growth, Deafnes 50
Capute-Rimoin-Konigsmark-Esterly-Richardson Syndrome 12
Alopecia Epilepsy Oligophrenia Syndrome of Moynahan 69
Progressive Cardiomyopathic Lentiginosis Syndrome 69
Progressive Cardiomyopathic Lentiginosis 12
Noonan Syndrome with Multiple Lentigines 50
Lentiginosis Profusa Syndrome 12
Cardiocutaneous Syndrome 12
Generalized Lentiginosis 12
Lentiginosis Profusa 69
Gorlin Syndrome Ii 12
Moynahan Syndrome 12

Classifications:



Summaries for Leopard Syndrome

NIH Rare Diseases : 50 leopard syndrome is an inherited condition characterized by abnormalities of the skin, heart, inner ears, and genitalia. the acronym leopard describes the features of the syndrome:(l)entigines - 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 (slowed) growth resulting in short stature (d)eafness there are 3 types of leopard syndrome, which are distinguished by their genetic cause. 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. other cases are caused by mutations in the map2k1  gene, and in some cases the cause is unknown. leopard syndrome is inherited in an autosomal dominant manner. it can be inherited from an affected parent, or it can be due to a new mutation in a person with no family history of the condition. leopard syndrome belongs to a group of related conditions called the rasopathies. these conditions have some overlapping features and are all caused by genetic changes that disrupt the body's ras pathway, affecting growth and development. last updated: 6/28/2016

MalaCards based summary : Leopard Syndrome, also known as multiple lentigines syndrome, is related to leopard syndrome 1 and leopard syndrome 3, and has symptoms including short stature, seizures and microcephaly. An important gene associated with Leopard Syndrome is RAF1 (Raf-1 Proto-Oncogene, Serine/Threonine Kinase), and among its related pathways/superpathways are Signaling by GPCR and Innate Immune System. The drugs Azacitidine and Antimetabolites have been mentioned in the context of this disorder. Affiliated tissues include skin, heart and eye, and related phenotypes are Decreased viability and cardiovascular system

Related Diseases for Leopard Syndrome

Diseases in the Leopard Syndrome family:

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

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

(show top 50) (show all 61)
id Related Disease Score Top Affiliating Genes
1 leopard syndrome 1 31.1 BRAF GAB1 HRAS NF1 PTPN11 RAF1
2 leopard syndrome 3 12.1
3 leopard syndrome 2 12.1
4 raf1-related leopard syndrome 11.7
5 braf-related leopard syndrome 11.7
6 ptpn11-related leopard syndrome 11.7
7 noonan syndrome with multiple lentigines 11.6
8 granular cell tumor 11.1
9 lentiginosis, inherited patterned 11.0
10 cardiomyopathy, dilated, with woolly hair and keratoderma 10.8
11 noonan syndrome 1 10.8
12 legius syndrome 10.8
13 raf1-related noonan syndrome 10.6 BRAF PTPN11
14 watson syndrome 10.4 NF1 PTPN11
15 pineal gland astrocytoma 10.4 BRAF NF1
16 cardiomyopathy 10.1
17 split hand split foot nystagmus 10.1 BRAF HRAS
18 cervical serous adenocarcinoma 10.1 PTPN11 SPRED1
19 autosomal dominant deafness-onychodystrophy syndrome 10.1 NF1 PTPN11 SPRED1
20 interstitial nephritis, karyomegalic 10.0 NF1 PTPN11 SPRED1
21 progressive multifocal leukoencephalopathy 10.0 PTPN11 SPRED1
22 nephrolithiasis 10.0 HRAS NF1 PTPN11
23 ocular albinism, x-linked 9.9 BRAF PPP1R13L PTPN11 RAF1
24 borna disease 9.7 NF1 SPRED1
25 melanoma 9.7
26 neurofibromatosis, type 1 9.7
27 leukemia 9.7
28 cowden syndrome 6 9.6 AKT1 CDKN3 PIK3R2
29 lymphoblastic leukemia 9.6
30 wolff-parkinson-white syndrome 9.6
31 respiratory failure 9.6
32 syncope 9.6
33 heart disease 9.6
34 nevus of ota 9.6
35 patent ductus arteriosus 9.6
36 acute motor and sensory axonal neuropathy 9.6
37 neurofibromatosis-noonan syndrome 9.6
38 lipomatosis 9.6
39 steatocystoma multiplex 9.6
40 cerebritis 9.6
41 axonal neuropathy 9.6
42 pulmonary hypertension 9.6
43 neuropathy 9.6
44 infective endocarditis 9.6
45 noonan-like/multiple giant cell lesion syndrome 9.6
46 schizencephaly 9.6
47 autism spectrum disorder 9.6
48 obesity 9.6
49 cardiac arrest 9.6
50 sudden cardiac death 9.6

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



Diseases related to Leopard Syndrome

Symptoms & Phenotypes for Leopard Syndrome

Human phenotypes related to Leopard Syndrome:

32 (show all 10)
id Description HPO Frequency HPO Source Accession
1 short stature 32 frequent (33%) HP:0004322
2 seizures 32 frequent (33%) HP:0001250
3 microcephaly 32 frequent (33%) HP:0000252
4 alopecia 32 hallmark (90%) HP:0001596
5 sparse hair 32 frequent (33%) HP:0008070
6 intellectual disability 32 hallmark (90%) HP:0001249
7 hyperkeratosis 32 occasional (7.5%) HP:0000962
8 hypogonadism 32 frequent (33%) HP:0000135
9 sensorineural hearing impairment 32 occasional (7.5%) HP:0000407
10 cachexia 32 frequent (33%) HP:0004326

UMLS symptoms related to Leopard Syndrome:


hyposmia, seizures

GenomeRNAi Phenotypes related to Leopard Syndrome according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.48 HRAS
2 Decreased viability GR00173-A 10.48 PIK3R2
3 Decreased viability GR00221-A-1 10.48 RAF1 AKT1 HRAS NF1 PIK3R2 PIK3R1
4 Decreased viability GR00221-A-2 10.48 RAF1 AKT1 HRAS NF1 PIK3R2
5 Decreased viability GR00221-A-3 10.48 AKT1 HRAS PIK3R1
6 Decreased viability GR00221-A-4 10.48 AKT1 NF1 PIK3R2
7 Decreased viability GR00231-A 10.48 RAF1
8 Decreased viability GR00301-A 10.48 RAF1 PIK3R2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-110 10.09 BRAF
10 Increased shRNA abundance (Z-score > 2) GR00366-A-118 10.09 PTPN11
11 Increased shRNA abundance (Z-score > 2) GR00366-A-121 10.09 PTPN11
12 Increased shRNA abundance (Z-score > 2) GR00366-A-138 10.09 PTPN11
13 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.09 RAF1 NF1 PTPN11 BRAF
14 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.09 RAF1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-161 10.09 RAF1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-166 10.09 BRAF
17 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.09 BRAF
18 Increased shRNA abundance (Z-score > 2) GR00366-A-178 10.09 PTPN11
19 Increased shRNA abundance (Z-score > 2) GR00366-A-190 10.09 PTPN11
20 Increased shRNA abundance (Z-score > 2) GR00366-A-194 10.09 BRAF
21 Increased shRNA abundance (Z-score > 2) GR00366-A-29 10.09 BRAF
22 Increased shRNA abundance (Z-score > 2) GR00366-A-31 10.09 BRAF
23 Increased shRNA abundance (Z-score > 2) GR00366-A-32 10.09 BRAF
24 Increased shRNA abundance (Z-score > 2) GR00366-A-37 10.09 PTPN11
25 Increased shRNA abundance (Z-score > 2) GR00366-A-46 10.09 NF1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-47 10.09 BRAF PTPN11
27 Increased shRNA abundance (Z-score > 2) GR00366-A-52 10.09 RAF1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-7 10.09 PTPN11
29 Increased shRNA abundance (Z-score > 2) GR00366-A-74 10.09 NF1
30 Increased shRNA abundance (Z-score > 2) GR00366-A-78 10.09 PTPN11
31 Increased shRNA abundance (Z-score > 2) GR00366-A-97 10.09 NF1
32 Decreased cell migration GR00055-A-1 9.65 AKT1 BRAF HRAS NF1 PIK3R2
33 Increased simian virus 40 (SV40) infection GR00356-A-2 8.8 AKT1 BRAF RAF1

MGI Mouse Phenotypes related to Leopard Syndrome:

44 (show all 16)
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.28 AKT1 BRAF CDC73 GAB1 HRAS NF1
2 growth/size/body region MP:0005378 10.27 PTPN1 PTPN11 RAF1 SPRED1 AKT1 BRAF
3 homeostasis/metabolism MP:0005376 10.21 AKT1 BRAF CDC73 GAB1 HRAS NF1
4 behavior/neurological MP:0005386 10.2 AKT1 BRAF CDC73 GAB1 HRAS NF1
5 cellular MP:0005384 10.18 RAF1 AKT1 BRAF CDC73 GAB1 NF1
6 endocrine/exocrine gland MP:0005379 10.13 AKT1 BRAF CDC73 HRAS NF1 PPP1R13L
7 integument MP:0010771 10.06 PPP1R13L PTPN11 RAF1 AKT1 BRAF CDC73
8 mortality/aging MP:0010768 10.06 PIK3R1 PPP1R13L PTPN1 PTPN11 RAF1 AKT1
9 craniofacial MP:0005382 10.05 BRAF GAB1 HRAS NF1 PTPN11 RAF1
10 embryo MP:0005380 10.04 AKT1 BRAF CDC73 GAB1 NF1 PTPN11
11 adipose tissue MP:0005375 10.03 AKT1 BRAF CDC73 PIK3R1 PTPN1 PTPN11
12 liver/biliary system MP:0005370 9.97 AKT1 BRAF CDC73 GAB1 NF1 PIK3R1
13 muscle MP:0005369 9.96 AKT1 BRAF CDC73 GAB1 NF1 PIK3R1
14 neoplasm MP:0002006 9.76 AKT1 BRAF HRAS NF1 PIK3R1 PIK3R2
15 normal MP:0002873 9.5 AKT1 BRAF HRAS NF1 PIK3R1 PTPN11
16 respiratory system MP:0005388 9.23 BRAF CDC73 HRAS NF1 PTPN11 RAF1

Drugs & Therapeutics for Leopard Syndrome

Drugs for Leopard Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Azacitidine Approved, Investigational Phase 3 320-67-2 9444
2 Antimetabolites Phase 3
3 Antimetabolites, Antineoplastic Phase 3

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Pevonedistat Plus Azacitidine Versus Single-Agent Azacitidine as First-Line Treatment for Participants With Higher-Risk Myelodysplastic Syndromes (HR MDS), Chronic Myelomonocytic Leukemia (CMML), or Low-Blast Acute Myelogenous Leukemia (AML) Not yet recruiting NCT03268954 Phase 3 Azacitidine;Pevonedistat
2 Hormonal Sensitivity in Patients With Noonan and LEOPARD Syndromes Not yet recruiting NCT02486731

Search NIH Clinical Center for Leopard Syndrome

Cochrane evidence based reviews: leopard syndrome

Genetic Tests for Leopard Syndrome

Genetic tests related to Leopard Syndrome:

id Genetic test Affiliating Genes
1 Leopard Syndrome 24 RAF1

Anatomical Context for Leopard Syndrome

MalaCards organs/tissues related to Leopard Syndrome:

39
Skin, Heart, Eye

Publications for Leopard Syndrome

Articles related to Leopard Syndrome:

(show top 50) (show all 151)
id Title Authors Year
1
Clinical, pathological and dermoscopic characteristics of cutaneous lesions in LEOPARD syndrome. ( 28862807 )
2017
2
Do you know this syndrome? Leopard syndrome. ( 28225973 )
2017
3
Erratum: LEOPARD syndrome and multiple granular cell tumors: An underreported association? ( 26924415 )
2016
4
The experience of bilateral cochlear implantation in a child with LEOPARD syndrome. ( 27729118 )
2016
5
Determination of the catalytic activity of LEOPARD syndrome-associated SHP2 mutants toward parafibromin, a bona fide SHP2 substrate involved in Wnt signaling. ( 26742426 )
2016
6
Identification of a PTPN11 hot spot mutation in a child with atypical LEOPARD syndrome. ( 27484170 )
2016
7
LEOPARD syndrome and multiple granular cell tumors: An underreported association? ( 26728819 )
2016
8
LEOPARD Syndrome. ( 26632807 )
2015
9
LEOPARD syndrome: you could be the first one to diagnose! ( 25572376 )
2015
10
Phenotypical diversity of patients with LEOPARD syndrome carrying the worldwide recurrent p.Tyr279Cys PTPN11 mutation. ( 26377839 )
2015
11
Pathogenesis of Multiple Lentigines in LEOPARD Syndrome with PTPN11 Gene Mutation. ( 25917897 )
2015
12
LEOPARD syndrome and multiple granular cell tumors: An underreported association? ( 26658397 )
2015
13
LEOPARD Syndrome with Patent Ductus Arteriosus and Hypertrophic Cardiomyopathy. ( 26591153 )
2015
14
PTPN11 mutation manifesting as LEOPARD syndrome associated with hypertrophic plexi and neuropathic pain. ( 25884655 )
2015
15
LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies. ( 24767283 )
2014
16
Structural insights into Noonan/LEOPARD syndrome-related mutants of protein-tyrosine phosphatase SHP2 (PTPN11). ( 24628801 )
2014
17
Noonan and LEOPARD syndrome Shp2 variants induce heart displacement defects in zebrafish. ( 24718990 )
2014
18
Leopard syndrome caused by heterozygous missense mutation of Tyr 279 Cys in the PTPN11 gene in a sporadic case of Chinese Han. ( 24820750 )
2014
19
Leopard syndrome: a report of five cases from one family in two generations. ( 24401936 )
2014
20
Anesthesia and LEOPARD syndrome: a review of forty-nine anesthetic exposures. ( 24461361 )
2014
21
LEOPARD syndrome-associated SHP2 mutation confers leanness and protection from diet-induced obesity. ( 25288766 )
2014
22
LEOPARD Syndrome Without Hearing Loss or Pulmonary Stenosis: A Report of 2 Cases. ( 25544017 )
2014
23
PZR coordinates Shp2 Noonan and LEOPARD syndrome signaling in zebrafish and mice. ( 24865967 )
2014
24
Phosphoproteomics-mediated identification of Fer kinase as a target of mutant Shp2 in Noonan and LEOPARD syndrome. ( 25184253 )
2014
25
Molecular basis of gain-of-function LEOPARD syndrome-associated SHP2 mutations. ( 24935154 )
2014
26
LEOPARD syndrome: maxillofacial care. ( 24705231 )
2014
27
RASopathies: from Noonan to LEOPARD syndrome. ( 24773692 )
2013
28
Delayed primary diagnosis of LEOPARD syndrome type 1. ( 23317994 )
2013
29
LEOPARD syndrome: a variant of Noonan syndrome strongly associated with hypertrophic cardiomyopathy. ( 24775816 )
2013
30
LEOPARD Syndrome: A Variant of Noonan Syndrome Strongly Associated With Hypertrophic Cardiomyopathy. ( 23312806 )
2013
31
LEOPARD syndrome with rare skeletal anomalies: A case report. ( 24082226 )
2013
32
Structural and mechanistic insights into LEOPARD syndrome-associated SHP2 mutations. ( 23457302 )
2013
33
A rare cause of dyspnoea: the LEOPARD syndrome. ( 23905457 )
2013
34
Scalp melanoma in a woman with LEOPARD syndrome: possible implication of PTPN11 signaling in melanoma pathogenesis. ( 24034393 )
2013
35
RASopathies: From Noonan to LEOPARD Syndrome. ( 23830833 )
2013
36
New approaches to prevent LEOPARD syndrome-associated cardiac hypertrophy by specifically targeting Shp2-dependent signaling. ( 23673659 )
2013
37
LEOPARD syndrome with Wolff-Parkinson-White syndrome on electrocardiography. ( 24177621 )
2013
38
Syndromic Hearing Loss in Association with PTPN11-Related Disorder: The Experience of Cochlear Implantation in a Child with LEOPARD Syndrome. ( 23799168 )
2013
39
LEOPARD syndrome. ( 22832481 )
2012
40
Extensive abdominal lipomatosis in a patient with Noonan/LEOPARD syndrome (Noonan syndrome-Multiple Lentigines). ( 22528600 )
2012
41
LEOPARD Syndrome Caused by Tyr279Cys Mutation in the PTPN11 Gene. ( 22822385 )
2012
42
LEOPARD Syndrome: Clinical Features and Gene Mutations. ( 23239957 )
2012
43
LEOPARD syndrome (PTPN11, T468M) in three boys fulfilling neurofibromatosis type 1 clinical criteria. ( 21365175 )
2011
44
Implantable cardioverter defibrillator for progressive hypertrophic cardiomyopathy in a patient with LEOPARD syndrome and a novel PTPN11 mutation Gln510His. ( 21910226 )
2011
45
Rapamycin reverses hypertrophic cardiomyopathy in a mouse model of LEOPARD syndrome-associated PTPN11 mutation. ( 21339643 )
2011
46
A familial case of LEOPARD syndrome associated with a high-functioning autism spectrum disorder. ( 21093184 )
2011
47
An uncommon association between skin lesions and LEOPARD syndrome affected an old patient. Case report. ( 21657161 )
2011
48
Two cases of LEOPARD syndrome--RAF1 mutations firstly described in children. ( 22389993 )
2011
49
LEOPARD syndrome in an infant with severe hypertrophic cardiomyopathy and PTPN11 mutation. ( 21677813 )
2011
50
LEOPARD Syndrome with PTPN11 Gene Mutation Showing Six Cardinal Symptoms of LEOPARD. ( 21747628 )
2011

Variations for Leopard Syndrome

ClinVar genetic disease variations for Leopard Syndrome:

6 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1 PTPN11 NM_002834.4(PTPN11): c.1403C> T (p.Thr468Met) single nucleotide variant Pathogenic/Likely pathogenic rs121918457 GRCh37 Chromosome 12, 112926270: 112926270
2 PTPN11 NM_002834.4(PTPN11): c.1381G> A (p.Ala461Thr) single nucleotide variant Pathogenic rs121918468 GRCh37 Chromosome 12, 112926248: 112926248
3 RAF1 NM_002880.3(RAF1): c.770C> T (p.Ser257Leu) single nucleotide variant Pathogenic/Likely pathogenic rs80338796 GRCh37 Chromosome 3, 12645699: 12645699
4 RAF1 NM_002880.3(RAF1): c.1837C> G (p.Leu613Val) single nucleotide variant Pathogenic/Likely pathogenic rs80338797 GRCh37 Chromosome 3, 12626123: 12626123
5 RAF1 NM_002880.3(RAF1): c.1456G> A (p.Asp486Asn) single nucleotide variant Pathogenic rs80338798 GRCh37 Chromosome 3, 12627260: 12627260
6 RAF1 NM_002880.3(RAF1): c.1472C> T (p.Thr491Ile) single nucleotide variant Pathogenic/Likely pathogenic rs80338799 GRCh37 Chromosome 3, 12627244: 12627244
7 BRAF NM_004333.4(BRAF): c.721A> C (p.Thr241Pro) single nucleotide variant Pathogenic/Likely pathogenic rs387906661 GRCh37 Chromosome 7, 140501351: 140501351
8 BRAF NM_004333.4(BRAF): c.735A> T (p.Leu245Phe) single nucleotide variant Pathogenic/Likely pathogenic rs397507466 GRCh37 Chromosome 7, 140501337: 140501337
9 PTPN11 NM_002834.4(PTPN11): c.1381G> T (p.Ala461Ser) single nucleotide variant Pathogenic rs121918468 GRCh37 Chromosome 12, 112926248: 112926248
10 PTPN11 NM_002834.4(PTPN11): c.1517A> C (p.Gln506Pro) single nucleotide variant Pathogenic rs397507548 GRCh37 Chromosome 12, 112926897: 112926897
11 PPP1R13L NM_001142502.1(PPP1R13L): c.2241C> G (p.Tyr747Ter) single nucleotide variant Pathogenic rs1114167453 GRCh38 Chromosome 19, 45385569: 45385569

Expression for Leopard Syndrome

Search GEO for disease gene expression data for Leopard Syndrome.

Pathways for Leopard Syndrome

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

(show top 50) (show all 201)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
14.25 AKT1 BRAF CDC73 GAB1 HRAS NF1
2
Show member pathways
14.12 AKT1 BRAF GAB1 HRAS NF1 PIK3R1
3
Show member pathways
13.94 AKT1 BRAF GAB1 HRAS PIK3R1 PIK3R2
4
Show member pathways
13.81 AKT1 BRAF GAB1 HRAS NF1 PIK3R1
5
Show member pathways
13.63 AKT1 BRAF HRAS PIK3R1 PIK3R2 PTPN1
6
Show member pathways
13.61 AKT1 BRAF HRAS PIK3R1 PIK3R2 PTPN11
7
Show member pathways
13.61 AKT1 BRAF GAB1 HRAS NF1 PIK3R1
8
Show member pathways
13.54 AKT1 GAB1 HRAS PIK3R1 PIK3R2 PTPN11
9
Show member pathways
13.48 AKT1 BRAF HRAS NF1 PIK3R1 PIK3R2
10
Show member pathways
13.42 AKT1 HRAS PIK3R1 PIK3R2 PTPN1 PTPN11
11
Show member pathways
13.37 AKT1 HRAS PIK3R1 PIK3R2 PTPN1 PTPN11
12
Show member pathways
13.35 AKT1 BRAF HRAS PIK3R1 PIK3R2 RAF1
13
Show member pathways
13.29 AKT1 BRAF HRAS PIK3R1 PIK3R2 RAF1
14
Show member pathways
13.17 AKT1 BRAF HRAS PIK3R1 PIK3R2 RAF1
15
Show member pathways
13.16 AKT1 GAB1 HRAS PIK3R1 PIK3R2 RAF1
16
Show member pathways
13.15 AKT1 BRAF GAB1 HRAS PIK3R1 PIK3R2
17
Show member pathways
13.06 AKT1 BRAF GAB1 HRAS PIK3R1 PIK3R2
18
Show member pathways
13.05 AKT1 BRAF HRAS PIK3R1 PIK3R2 RAF1
19
Show member pathways
13.02 AKT1 BRAF HRAS PIK3R1 PIK3R2 RAF1
20
Show member pathways
13.01 AKT1 BRAF HRAS PIK3R1 PIK3R2 RAF1
21
Show member pathways
13.01 AKT1 BRAF HRAS PIK3R1 PIK3R2 RAF1
22
Show member pathways
13 AKT1 HRAS PIK3R1 PIK3R2 RAF1
23
Show member pathways
13 AKT1 BRAF GAB1 HRAS PIK3R1 PIK3R2
24
Show member pathways
12.99 AKT1 BRAF HRAS PIK3R1 PIK3R2 RAF1
25
Show member pathways
12.97 BRAF HRAS PIK3R1 PIK3R2 RAF1 SPRED1
26
Show member pathways
12.95 AKT1 BRAF HRAS PIK3R1 PIK3R2 RAF1
27
Show member pathways
12.95 AKT1 BRAF HRAS PIK3R1 PIK3R2 PTPN11
28
Show member pathways
12.92 AKT1 HRAS PIK3R1 PIK3R2 RAF1
29
Show member pathways
12.91 AKT1 PIK3R1 PIK3R2 PTPN11 RAF1
30
Show member pathways
12.89 AKT1 HRAS PIK3R1 PIK3R2 RAF1
31
Show member pathways
12.88 AKT1 GAB1 HRAS PIK3R1 PIK3R2 PTPN11
32
Show member pathways
12.86 AKT1 BRAF GAB1 HRAS PIK3R1 PIK3R2
33 12.84 AKT1 BRAF HRAS PIK3R1 PIK3R2 RAF1
34 12.83 AKT1 BRAF HRAS NF1 RAF1
35
Show member pathways
12.83 AKT1 BRAF HRAS PIK3R1 PIK3R2 RAF1
36
Show member pathways
12.83 AKT1 BRAF HRAS PIK3R1 PIK3R2 RAF1
37
Show member pathways
12.77 AKT1 BRAF GAB1 HRAS NF1 PIK3R1
38 12.76 AKT1 HRAS PIK3R1 PIK3R2 RAF1
39
Show member pathways
12.76 AKT1 HRAS PIK3R1 PIK3R2 RAF1
40
Show member pathways
12.76 AKT1 HRAS PIK3R1 PIK3R2 PTPN11 RAF1
41 12.75 BRAF HRAS PIK3R1 PIK3R2 RAF1
42
Show member pathways
12.75 BRAF GAB1 HRAS PIK3R1 PTPN11 SPRED1
43
Show member pathways
12.75 AKT1 HRAS PIK3R1 PIK3R2 PTPN11 RAF1
44
Show member pathways
12.74 AKT1 HRAS PIK3R1 PIK3R2 RAF1
45
Show member pathways
12.73 BRAF PIK3R1 PIK3R2 RAF1
46
Show member pathways
12.73 AKT1 PIK3R1 PIK3R2 PTPN11
47
Show member pathways
12.72 AKT1 HRAS PIK3R1 PIK3R2 PTPN11
48
Show member pathways
12.7 BRAF HRAS PIK3R1 PIK3R2 PTPN11 RAF1
49
Show member pathways
12.7 AKT1 BRAF GAB1 HRAS NF1 PIK3R1
50
Show member pathways
12.69 AKT1 BRAF HRAS PIK3R1 PIK3R2 RAF1

GO Terms for Leopard Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.73 AKT1 BRAF CDC73 CDKN3 HRAS NF1
2 cytosol GO:0005829 9.47 AKT1 BRAF CDC73 CDKN3 GAB1 HRAS
3 phosphatidylinositol 3-kinase complex GO:0005942 9.16 PIK3R1 PIK3R2

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

(show all 36)
id Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.99 AKT1 BRAF CDC73 PIK3R1 RAF1
2 cell proliferation GO:0008283 9.96 AKT1 GAB1 HRAS RAF1
3 negative regulation of cell proliferation GO:0008285 9.95 CDC73 CDKN3 HRAS NF1 RAF1
4 MAPK cascade GO:0000165 9.89 BRAF HRAS NF1 RAF1 SPRED1
5 leukocyte migration GO:0050900 9.88 HRAS PIK3R1 PIK3R2 PTPN11
6 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.87 BRAF HRAS PTPN11 RAF1
7 axon guidance GO:0007411 9.86 GAB1 HRAS PIK3R1 PTPN11
8 T cell receptor signaling pathway GO:0050852 9.84 BRAF HRAS PIK3R1 PIK3R2
9 peptidyl-tyrosine dephosphorylation GO:0035335 9.81 CDKN3 PTPN1 PTPN11
10 platelet activation GO:0030168 9.81 AKT1 PIK3R1 PTPN11 RAF1
11 cellular response to insulin stimulus GO:0032869 9.79 AKT1 PIK3R1 PIK3R2
12 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.79 AKT1 BRAF RAF1
13 response to endoplasmic reticulum stress GO:0034976 9.78 PIK3R1 PIK3R2 PTPN1
14 phosphatidylinositol phosphorylation GO:0046854 9.78 GAB1 PIK3R1 PIK3R2 PTPN11
15 T cell costimulation GO:0031295 9.77 AKT1 PIK3R1 PTPN11
16 negative regulation of signal transduction GO:0009968 9.76 BRAF PTPN1 RAF1
17 phosphatidylinositol-mediated signaling GO:0048015 9.72 AKT1 GAB1 PIK3R1 PIK3R2 PTPN11
18 ERBB2 signaling pathway GO:0038128 9.7 GAB1 HRAS PIK3R1
19 regulation of long-term neuronal synaptic plasticity GO:0048169 9.67 HRAS NF1
20 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.67 GAB1 PIK3R1 PIK3R2 PTPN11
21 face development GO:0060324 9.66 BRAF RAF1
22 negative regulation of cell-matrix adhesion GO:0001953 9.65 NF1 PIK3R1
23 positive regulation of transcription factor import into nucleus GO:0042993 9.65 PIK3R1 PIK3R2
24 neurotrophin TRK receptor signaling pathway GO:0048011 9.65 PTPN11 RAF1
25 insulin-like growth factor receptor signaling pathway GO:0048009 9.64 AKT1 PIK3R1
26 regulation of insulin receptor signaling pathway GO:0046626 9.63 PIK3R1 PTPN1
27 regulation of phosphatidylinositol 3-kinase activity GO:0043551 9.62 PIK3R1 PIK3R2
28 cellular glucose homeostasis GO:0001678 9.61 PIK3R1 PIK3R2 RAF1
29 positive regulation of glucose import in response to insulin stimulus GO:2001275 9.58 PIK3R1 PIK3R2 PTPN11
30 phosphatidylinositol 3-kinase signaling GO:0014065 9.56 AKT1 NF1 PIK3R1 PIK3R2
31 regulation of phosphatidylinositol 3-kinase signaling GO:0014066 9.55 AKT1 GAB1 PIK3R1 PIK3R2 PTPN11
32 insulin receptor signaling pathway GO:0008286 9.35 AKT1 GAB1 PIK3R1 PIK3R2 PTPN1
33 negative regulation of MAPK cascade GO:0043409 9.16 NF1
34 epidermal growth factor receptor signaling pathway GO:0007173 8.92 GAB1 HRAS PIK3R1 PTPN11
35 signal transduction GO:0007165 10.21 AKT1 BRAF HRAS NF1 PIK3R1 PIK3R2
36 positive regulation of transcription from RNA polymerase II promoter GO:0045944 10.1 AKT1 CDC73 HRAS PIK3R1 PIK3R2 RAF1

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

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.83 AKT1 BRAF HRAS RAF1
2 phosphatase activity GO:0016791 9.69 CDKN3 PTPN1 PTPN11
3 protein tyrosine phosphatase activity GO:0004725 9.65 CDKN3 PTPN1 PTPN11
4 phosphoprotein phosphatase activity GO:0004721 9.63 CDKN3 PTPN1 PTPN11
5 receptor tyrosine kinase binding GO:0030971 9.5 PIK3R2 PTPN1 PTPN11
6 mitogen-activated protein kinase kinase binding GO:0031434 9.49 BRAF RAF1
7 insulin receptor substrate binding GO:0043560 9.43 PIK3R1 PTPN11
8 1-phosphatidylinositol-3-kinase regulator activity GO:0046935 9.4 PIK3R1 PIK3R2
9 phosphatidylinositol 3-kinase regulator activity GO:0035014 9.37 PIK3R1 PIK3R2
10 insulin receptor binding GO:0005158 9.33 PIK3R1 PTPN1 PTPN11
11 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.26 GAB1 PIK3R1 PIK3R2 PTPN11
12 1-phosphatidylinositol-3-kinase activity GO:0016303 8.92 GAB1 PIK3R1 PIK3R2 PTPN11
13 protein binding GO:0005515 10.1 AKT1 BRAF CDC73 CDKN3 GAB1 HRAS

Sources for Leopard Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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