MCID: LPR002
MIFTS: 56

Leopard Syndrome

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

Aliases & Classifications for Leopard Syndrome

MalaCards integrated aliases for Leopard Syndrome:

Name: Leopard Syndrome 12 49 36 51 41 14 37 69
Multiple Lentigines Syndrome 12 49
Lentigines, Electrocardiographic Conduction Abnormalities, Ocular Hypertelorism, Pulmonic Stenosis, Abnormal Genitalia, Retardation of Growth, Deafnes 49
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 49
Lentiginosis Profusa Syndrome 12
Cardiomyopathic Lentiginosis 49
Cardiocutaneous Syndrome 12
Generalized Lentiginosis 12
Lentiginosis Profusa 69
Gorlin Syndrome Ii 12
Moynahan Syndrome 12

Classifications:



Summaries for Leopard Syndrome

NIH Rare Diseases : 49 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 noonan syndrome with multiple lentigines and legius syndrome, and has symptoms including hypogonadism, microcephaly and sensorineural hearing impairment. An important gene associated with Leopard Syndrome is PTPN11 (Protein Tyrosine Phosphatase, Non-Receptor Type 11), and among its related pathways/superpathways are MAPK signaling pathway and Ras signaling pathway. Affiliated tissues include skin, heart and eye, and related phenotypes are Decreased viability and Decreased viability

Related Diseases for Leopard Syndrome

Diseases in the Leopard Syndrome family:

Leopard Syndrome 1 Leopard Syndrome 2
Leopard Syndrome 3

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

(show top 50) (show all 78)
# Related Disease Score Top Affiliating Genes
1 noonan syndrome with multiple lentigines 32.4 BRAF PPP1R13L PTPN11 RAF1
2 legius syndrome 31.4 NF1 PTPN11 SPRED1
3 lentigines 30.5 BRAF PTPN11 RAF1
4 noonan syndrome 1 30.4 BRAF GAB1 HRAS NF1 PTPN11 RAF1
5 neurofibromatosis-noonan syndrome 29.9 NF1 PTPN11
6 neurofibromatosis, type iv, of riccardi 29.7 HRAS NF1 PTPN11
7 leopard syndrome 1 12.4
8 leopard syndrome 2 12.2
9 leopard syndrome 3 12.2
10 granular cell tumor 11.3
11 lentiginosis, inherited patterned 11.2
12 alopecia-epilepsy-oligophrenia syndrome of moynahan 11.1
13 cardiomyopathy, dilated, with woolly hair and keratoderma 11.0
14 cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis 11.0
15 hypertelorism 10.3 BRAF PTPN11 RAF1
16 pilocytic astrocytoma of cerebellum 10.2 BRAF NF1
17 hypertrophic cardiomyopathy 10.2
18 spitz nevus 10.1 BRAF HRAS
19 autosomal dominant café au lait spots 10.0 NF1 PTPN11 SPRED1
20 pseudo-turner syndrome 10.0
21 pulmonary valve stenosis 10.0 PTPN11 SPRED1
22 naxos disease 10.0
23 myelodysplastic myeloproliferative cancer 10.0 HRAS NF1 PTPN11
24 plexiform neurofibroma 9.9 NF1 SPRED1
25 melanoma 9.9
26 pulmonary valve disease 9.8 PTPN11 SPRED1
27 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.8
28 leukemia 9.8
29 heart disease 9.8
30 myeloma, multiple 9.8 AKT1 BRAF HRAS
31 proteus syndrome 9.7 AKT1 CDKN3 PIK3R2
32 adenocarcinoma 9.6 AKT1 BRAF HRAS RAF1
33 cardiac conduction defect 9.6
34 neurofibromatosis, type i 9.6
35 steatocystoma multiplex 9.6
36 wolff-parkinson-white syndrome 9.6
37 autism 9.6
38 schizencephaly 9.6
39 body mass index quantitative trait locus 11 9.6
40 body mass index quantitative trait locus 9 9.6
41 body mass index quantitative trait locus 8 9.6
42 patent ductus arteriosus 1 9.6
43 body mass index quantitative trait locus 4 9.6
44 body mass index quantitative trait locus 10 9.6
45 body mass index quantitative trait locus 7 9.6
46 body mass index quantitative trait locus 12 9.6
47 body mass index quantitative trait locus 14 9.6
48 microcephaly, epilepsy, and diabetes syndrome 9.6
49 episodic pain syndrome, familial, 1 9.6
50 body mass index quantitative trait locus 18 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:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 hypogonadism 31 frequent (33%) HP:0000135
2 microcephaly 31 frequent (33%) HP:0000252
3 sensorineural hearing impairment 31 occasional (7.5%) HP:0000407
4 hyperkeratosis 31 occasional (7.5%) HP:0000962
5 intellectual disability 31 hallmark (90%) HP:0001249
6 seizures 31 frequent (33%) HP:0001250
7 alopecia 31 hallmark (90%) HP:0001596
8 short stature 31 frequent (33%) HP:0004322
9 cachexia 31 frequent (33%) HP:0004326
10 sparse hair 31 frequent (33%) HP:0008070

UMLS symptoms related to Leopard Syndrome:


seizures, hyposmia

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

25 (show all 34)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.74 HRAS BRAF
2 Decreased viability GR00173-A 10.74 PIK3R2
3 Decreased viability GR00221-A-1 10.74 NF1 PIK3R1 RAF1 PIK3R2 AKT1 HRAS
4 Decreased viability GR00221-A-2 10.74 NF1 RAF1 PIK3R2 AKT1 GSK3B HRAS
5 Decreased viability GR00221-A-3 10.74 PIK3R1 AKT1 GSK3B HRAS
6 Decreased viability GR00221-A-4 10.74 NF1 PIK3R2 AKT1 GSK3B BRAF
7 Decreased viability GR00231-A 10.74 RAF1
8 Decreased viability GR00301-A 10.74 PIK3R2 RAF1 BRAF
9 Decreased viability GR00381-A-1 10.74 BRAF
10 Increased shRNA abundance (Z-score > 2) GR00366-A-110 10.09 BRAF
11 Increased shRNA abundance (Z-score > 2) GR00366-A-118 10.09 PTPN11
12 Increased shRNA abundance (Z-score > 2) GR00366-A-121 10.09 PTPN11
13 Increased shRNA abundance (Z-score > 2) GR00366-A-138 10.09 PTPN11
14 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.09 PTPN11 NF1 RAF1 BRAF
15 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.09 RAF1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-161 10.09 RAF1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-166 10.09 BRAF
18 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.09 BRAF
19 Increased shRNA abundance (Z-score > 2) GR00366-A-178 10.09 PTPN11
20 Increased shRNA abundance (Z-score > 2) GR00366-A-190 10.09 PTPN11
21 Increased shRNA abundance (Z-score > 2) GR00366-A-194 10.09 BRAF
22 Increased shRNA abundance (Z-score > 2) GR00366-A-29 10.09 BRAF
23 Increased shRNA abundance (Z-score > 2) GR00366-A-31 10.09 BRAF
24 Increased shRNA abundance (Z-score > 2) GR00366-A-32 10.09 BRAF
25 Increased shRNA abundance (Z-score > 2) GR00366-A-37 10.09 PTPN11
26 Increased shRNA abundance (Z-score > 2) GR00366-A-46 10.09 NF1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-47 10.09 PTPN11 BRAF
28 Increased shRNA abundance (Z-score > 2) GR00366-A-52 10.09 RAF1
29 Increased shRNA abundance (Z-score > 2) GR00366-A-7 10.09 PTPN11
30 Increased shRNA abundance (Z-score > 2) GR00366-A-74 10.09 NF1
31 Increased shRNA abundance (Z-score > 2) GR00366-A-78 10.09 PTPN11
32 Increased shRNA abundance (Z-score > 2) GR00366-A-97 10.09 NF1
33 Decreased cell migration GR00055-A-1 9.65 NF1 PIK3R2 AKT1 BRAF HRAS
34 Increased simian virus 40 (SV40) infection GR00356-A-2 8.8 RAF1 AKT1 BRAF

MGI Mouse Phenotypes related to Leopard Syndrome:

43 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.35 NF1 GSK3B HRAS GAB1 AKT1 CDC73
2 growth/size/body region MP:0005378 10.32 GSK3B NF1 HRAS GAB1 AKT1 CDC73
3 behavior/neurological MP:0005386 10.28 HRAS GAB1 GSK3B NF1 BRAF AKT1
4 cellular MP:0005384 10.27 GAB1 GSK3B NF1 BRAF AKT1 CDC73
5 homeostasis/metabolism MP:0005376 10.27 GAB1 GSK3B NF1 HRAS AKT1 CDC73
6 craniofacial MP:0005382 10.21 GSK3B NF1 HRAS GAB1 CDC73 BRAF
7 endocrine/exocrine gland MP:0005379 10.18 HRAS GSK3B NF1 BRAF AKT1 CDC73
8 mortality/aging MP:0010768 10.14 HRAS GAB1 GSK3B NF1 BRAF AKT1
9 immune system MP:0005387 10.13 GSK3B NF1 BRAF AKT1 CDC73 PIK3R1
10 integument MP:0010771 10.11 GAB1 NF1 HRAS AKT1 CDC73 BRAF
11 digestive/alimentary MP:0005381 10.09 HRAS GAB1 GSK3B NF1 BRAF CDC73
12 liver/biliary system MP:0005370 10.09 GSK3B NF1 GAB1 AKT1 CDC73 BRAF
13 embryo MP:0005380 10.08 GAB1 BRAF AKT1 CDC73 NF1 PTPN11
14 muscle MP:0005369 10.07 NF1 GAB1 AKT1 CDC73 BRAF PTPN11
15 neoplasm MP:0002006 9.97 NF1 HRAS AKT1 CDC73 BRAF PTPN11
16 nervous system MP:0003631 9.91 HRAS GSK3B NF1 BRAF AKT1 CDC73
17 normal MP:0002873 9.76 HRAS GSK3B NF1 BRAF AKT1 RAF1
18 respiratory system MP:0005388 9.56 NF1 HRAS AKT1 CDC73 BRAF RAF1
19 skeleton MP:0005390 9.23 HRAS GSK3B NF1 BRAF AKT1 CDC73

Drugs & Therapeutics for Leopard Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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

Anatomical Context for Leopard Syndrome

MalaCards organs/tissues related to Leopard Syndrome:

38
Skin, Heart, Eye

Publications for Leopard Syndrome

Articles related to Leopard Syndrome:

(show top 50) (show all 152)
# Title Authors Year
1
Patient with confirmed LEOPARD syndrome developing multiple melanoma. ( 29445579 )
2018
2
Clinical, pathological and dermoscopic characteristics of cutaneous lesions in LEOPARD syndrome. ( 28862807 )
2017
3
Do you know this syndrome? Leopard syndrome. ( 28225973 )
2017
4
Determination of the catalytic activity of LEOPARD syndrome-associated SHP2 mutants toward parafibromin, a bona fide SHP2 substrate involved in Wnt signaling. ( 26742426 )
2016
5
Identification of a PTPN11 hot spot mutation in a child with atypical LEOPARD syndrome. ( 27484170 )
2016
6
Erratum: LEOPARD syndrome and multiple granular cell tumors: An underreported association? ( 26924415 )
2016
7
LEOPARD syndrome and multiple granular cell tumors: An underreported association? ( 26728819 )
2016
8
The experience of bilateral cochlear implantation in a child with LEOPARD syndrome. ( 27729118 )
2016
9
LEOPARD syndrome and multiple granular cell tumors: An underreported association? ( 26658397 )
2015
10
LEOPARD Syndrome. ( 26632807 )
2015
11
LEOPARD syndrome: you could be the first one to diagnose! ( 25572376 )
2015
12
LEOPARD Syndrome with Patent Ductus Arteriosus and Hypertrophic Cardiomyopathy. ( 26591153 )
2015
13
Pathogenesis of Multiple Lentigines in LEOPARD Syndrome with PTPN11 Gene Mutation. ( 25917897 )
2015
14
Phenotypical diversity of patients with LEOPARD syndrome carrying the worldwide recurrent p.Tyr279Cys PTPN11 mutation. ( 26377839 )
2015
15
PTPN11 mutation manifesting as LEOPARD syndrome associated with hypertrophic plexi and neuropathic pain. ( 25884655 )
2015
16
Noonan and LEOPARD syndrome Shp2 variants induce heart displacement defects in zebrafish. ( 24718990 )
2014
17
PZR coordinates Shp2 Noonan and LEOPARD syndrome signaling in zebrafish and mice. ( 24865967 )
2014
18
Phosphoproteomics-mediated identification of Fer kinase as a target of mutant Shp2 in Noonan and LEOPARD syndrome. ( 25184253 )
2014
19
Leopard syndrome: a report of five cases from one family in two generations. ( 24401936 )
2014
20
LEOPARD syndrome-associated SHP2 mutation confers leanness and protection from diet-induced obesity. ( 25288766 )
2014
21
LEOPARD syndrome: maxillofacial care. ( 24705231 )
2014
22
Molecular basis of gain-of-function LEOPARD syndrome-associated SHP2 mutations. ( 24935154 )
2014
23
LEOPARD Syndrome Without Hearing Loss or Pulmonary Stenosis: A Report of 2 Cases. ( 25544017 )
2014
24
Anesthesia and LEOPARD syndrome: a review of forty-nine anesthetic exposures. ( 24461361 )
2014
25
Structural insights into Noonan/LEOPARD syndrome-related mutants of protein-tyrosine phosphatase SHP2 (PTPN11). ( 24628801 )
2014
26
LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies. ( 24767283 )
2014
27
Leopard syndrome caused by heterozygous missense mutation of Tyr 279 Cys in the PTPN11 gene in a sporadic case of Chinese Han. ( 24820750 )
2014
28
RASopathies: from Noonan to LEOPARD syndrome. ( 24773692 )
2013
29
LEOPARD syndrome with rare skeletal anomalies: A case report. ( 24082226 )
2013
30
Delayed primary diagnosis of LEOPARD syndrome type 1. ( 23317994 )
2013
31
LEOPARD syndrome: a variant of Noonan syndrome strongly associated with hypertrophic cardiomyopathy. ( 24775816 )
2013
32
LEOPARD syndrome with Wolff-Parkinson-White syndrome on electrocardiography. ( 24177621 )
2013
33
LEOPARD Syndrome: A Variant of Noonan Syndrome Strongly Associated With Hypertrophic Cardiomyopathy. ( 23312806 )
2013
34
Scalp melanoma in a woman with LEOPARD syndrome: possible implication of PTPN11 signaling in melanoma pathogenesis. ( 24034393 )
2013
35
New approaches to prevent LEOPARD syndrome-associated cardiac hypertrophy by specifically targeting Shp2-dependent signaling. ( 23673659 )
2013
36
Structural and mechanistic insights into LEOPARD syndrome-associated SHP2 mutations. ( 23457302 )
2013
37
RASopathies: From Noonan to LEOPARD Syndrome. ( 23830833 )
2013
38
A rare cause of dyspnoea: the LEOPARD syndrome. ( 23905457 )
2013
39
Syndromic Hearing Loss in Association with PTPN11-Related Disorder: The Experience of Cochlear Implantation in a Child with LEOPARD Syndrome. ( 23799168 )
2013
40
LEOPARD syndrome. ( 22832481 )
2012
41
LEOPARD Syndrome: Clinical Features and Gene Mutations. ( 23239957 )
2012
42
Extensive abdominal lipomatosis in a patient with Noonan/LEOPARD syndrome (Noonan syndrome-Multiple Lentigines). ( 22528600 )
2012
43
LEOPARD Syndrome Caused by Tyr279Cys Mutation in the PTPN11 Gene. ( 22822385 )
2012
44
LEOPARD syndrome (PTPN11, T468M) in three boys fulfilling neurofibromatosis type 1 clinical criteria. ( 21365175 )
2011
45
A familial case of LEOPARD syndrome associated with a high-functioning autism spectrum disorder. ( 21093184 )
2011
46
Rapamycin reverses hypertrophic cardiomyopathy in a mouse model of LEOPARD syndrome-associated PTPN11 mutation. ( 21339643 )
2011
47
Two cases of LEOPARD syndrome--RAF1 mutations firstly described in children. ( 22389993 )
2011
48
LEOPARD syndrome in an infant with severe hypertrophic cardiomyopathy and PTPN11 mutation. ( 21677813 )
2011
49
Implantable cardioverter defibrillator for progressive hypertrophic cardiomyopathy in a patient with LEOPARD syndrome and a novel PTPN11 mutation Gln510His. ( 21910226 )
2011
50
An uncommon association between skin lesions and LEOPARD syndrome affected an old patient. Case report. ( 21657161 )
2011

Variations for Leopard Syndrome

ClinVar genetic disease variations for Leopard Syndrome:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 PTPN11 NM_002834.4(PTPN11): c.1403C> T (p.Thr468Met) single nucleotide variant 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 PTPN11 NM_002834.4(PTPN11): c.1529A> C (p.Gln510Pro) single nucleotide variant Pathogenic rs121918470 GRCh37 Chromosome 12, 112926909: 112926909
4 RAF1 NM_002880.3(RAF1): c.770C> T (p.Ser257Leu) single nucleotide variant Pathogenic rs80338796 GRCh37 Chromosome 3, 12645699: 12645699
5 RAF1 NM_002880.3(RAF1): c.1837C> G (p.Leu613Val) single nucleotide variant Pathogenic rs80338797 GRCh37 Chromosome 3, 12626123: 12626123
6 RAF1 NM_002880.3(RAF1): c.1456G> A (p.Asp486Asn) single nucleotide variant Pathogenic rs80338798 GRCh37 Chromosome 3, 12627260: 12627260
7 RAF1 NM_002880.3(RAF1): c.1472C> T (p.Thr491Ile) single nucleotide variant Pathogenic rs80338799 GRCh37 Chromosome 3, 12627244: 12627244
8 BRAF NM_004333.4(BRAF): c.721A> C (p.Thr241Pro) single nucleotide variant Pathogenic/Likely pathogenic rs387906661 GRCh37 Chromosome 7, 140501351: 140501351
9 BRAF NM_004333.4(BRAF): c.735A> T (p.Leu245Phe) single nucleotide variant Pathogenic/Likely pathogenic rs397507466 GRCh37 Chromosome 7, 140501337: 140501337
10 PTPN11 NM_002834.4(PTPN11): c.1381G> T (p.Ala461Ser) single nucleotide variant Pathogenic rs121918468 GRCh37 Chromosome 12, 112926248: 112926248
11 PTPN11 NM_002834.4(PTPN11): c.1517A> C (p.Gln506Pro) single nucleotide variant Pathogenic rs397507548 GRCh37 Chromosome 12, 112926897: 112926897
12 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 KEGG:

36
# Name Kegg Source Accession
1 MAPK signaling pathway hsa04010
2 Ras signaling pathway hsa04014

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

(show top 50) (show all 216)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.27 AKT1 BRAF CDC73 GAB1 GSK3B HRAS
2
Show member pathways
14.13 AKT1 BRAF GAB1 GSK3B HRAS NF1
3
Show member pathways
13.96 AKT1 BRAF GAB1 GSK3B HRAS PIK3R1
4
Show member pathways
13.93 AKT1 BRAF GAB1 GSK3B HRAS NF1
5
Show member pathways
13.85 AKT1 BRAF GAB1 GSK3B HRAS NF1
6
Show member pathways
13.63 AKT1 BRAF GSK3B HRAS PIK3R1 PIK3R2
7
Show member pathways
13.62 AKT1 BRAF HRAS PIK3R1 PIK3R2 PTPN11
8
Show member pathways
13.62 AKT1 BRAF GAB1 GSK3B HRAS NF1
9
Show member pathways
13.58 AKT1 GAB1 GSK3B HRAS PIK3R1 PIK3R2
10
Show member pathways
13.52 AKT1 GAB1 GSK3B HRAS PIK3R1 PIK3R2
11
Show member pathways
13.52 AKT1 BRAF HRAS NF1 PIK3R1 PIK3R2
12
Show member pathways
13.45 AKT1 BRAF HRAS PIK3R1 PIK3R2 RAF1
13
Show member pathways
13.4 AKT1 BRAF GSK3B HRAS PIK3R1 PIK3R2
14
Show member pathways
13.39 AKT1 HRAS PIK3R1 PIK3R2 PTPN11 RAF1
15
Show member pathways
13.34 AKT1 BRAF GSK3B HRAS PIK3R1 PIK3R2
16
Show member pathways
13.23 AKT1 GAB1 GSK3B PIK3R1 PIK3R2 PTPN11
17
Show member pathways
13.22 AKT1 BRAF GAB1 GSK3B HRAS NF1
18
Show member pathways
13.18 AKT1 BRAF HRAS PIK3R1 PIK3R2 RAF1
19
Show member pathways
13.17 AKT1 GAB1 HRAS PIK3R1 PIK3R2 RAF1
20
Show member pathways
13.17 AKT1 BRAF GAB1 HRAS PIK3R1 PIK3R2
21
Show member pathways
13.16 AKT1 BRAF HRAS PIK3R1 PIK3R2 RAF1
22
Show member pathways
13.11 AKT1 GSK3B HRAS PIK3R1 PIK3R2 RAF1
23
Show member pathways
13.1 AKT1 BRAF GSK3B HRAS PIK3R1 PIK3R2
24
Show member pathways
13.09 AKT1 BRAF GAB1 GSK3B HRAS PIK3R1
25
Show member pathways
13.06 AKT1 BRAF GSK3B HRAS PIK3R1 PIK3R2
26
Show member pathways
13.06 AKT1 BRAF GAB1 GSK3B HRAS PIK3R1
27
Show member pathways
13.03 AKT1 BRAF HRAS PIK3R1 PIK3R2 RAF1
28 13.02 AKT1 BRAF GSK3B HRAS PIK3R1 PIK3R2
29
Show member pathways
13.01 AKT1 HRAS PIK3R1 PIK3R2 RAF1
30
Show member pathways
13.01 BRAF GSK3B HRAS PIK3R1 PIK3R2 RAF1
31
Show member pathways
12.99 AKT1 BRAF GSK3B HRAS PIK3R1 PIK3R2
32
Show member pathways
12.99 AKT1 BRAF GSK3B HRAS PIK3R1 PIK3R2
33
Show member pathways
12.96 AKT1 GSK3B PIK3R1 PIK3R2 PTPN11 RAF1
34
Show member pathways
12.96 AKT1 BRAF GSK3B HRAS PIK3R1 PIK3R2
35
Show member pathways
12.94 AKT1 BRAF GAB1 GSK3B HRAS PIK3R1
36
Show member pathways
12.93 AKT1 HRAS PIK3R1 PIK3R2 RAF1
37
Show member pathways
12.92 AKT1 GAB1 GSK3B HRAS PIK3R1 PIK3R2
38
Show member pathways
12.89 AKT1 GSK3B HRAS PIK3R1 PIK3R2
39 12.88 AKT1 BRAF HRAS NF1 RAF1
40
Show member pathways
12.86 AKT1 BRAF GSK3B HRAS PIK3R1 PIK3R2
41
Show member pathways
12.85 AKT1 BRAF HRAS PIK3R1 PIK3R2 RAF1
42
Show member pathways
12.84 AKT1 GSK3B HRAS PIK3R1 PIK3R2 RAF1
43
Show member pathways
12.82 AKT1 BRAF GAB1 HRAS NF1 PIK3R1
44
Show member pathways
12.81 AKT1 GSK3B HRAS PIK3R1 PIK3R2 RAF1
45
Show member pathways
12.8 AKT1 GSK3B HRAS PIK3R1 PIK3R2 PTPN11
46
Show member pathways
12.79 AKT1 BRAF GAB1 GSK3B HRAS PIK3R1
47
Show member pathways
12.77 AKT1 BRAF HRAS PIK3R1 PIK3R2 RAF1
48 12.76 BRAF HRAS PIK3R1 PIK3R2 RAF1
49
Show member pathways
12.76 AKT1 HRAS PIK3R1 PIK3R2 PTPN11 RAF1
50
Show member pathways
12.76 AKT1 GSK3B HRAS PIK3R1 PIK3R2 RAF1

GO Terms for Leopard Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.77 AKT1 BRAF CDC73 CDKN3 GSK3B HRAS
2 cytosol GO:0005829 9.47 AKT1 BRAF CDC73 CDKN3 GAB1 GSK3B
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 37)
# Name GO ID Score Top Affiliating Genes
1 cell proliferation GO:0008283 9.97 AKT1 GAB1 HRAS RAF1
2 positive regulation of GTPase activity GO:0043547 9.95 GSK3B HRAS NF1 PIK3R2
3 negative regulation of cell proliferation GO:0008285 9.95 CDC73 CDKN3 HRAS NF1 RAF1
4 leukocyte migration GO:0050900 9.88 HRAS PIK3R1 PIK3R2 PTPN11
5 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.88 BRAF HRAS PTPN11 RAF1
6 MAPK cascade GO:0000165 9.88 BRAF HRAS NF1 RAF1 SPRED1
7 negative regulation of apoptotic process GO:0043066 9.88 AKT1 BRAF CDC73 GSK3B PIK3R1 RAF1
8 axon guidance GO:0007411 9.87 GAB1 HRAS PIK3R1 PTPN11
9 positive regulation of protein kinase B signaling GO:0051897 9.84 GAB1 PIK3R1 PIK3R2 PTPN11
10 negative regulation of protein kinase activity GO:0006469 9.82 AKT1 NF1 SPRED1
11 T cell receptor signaling pathway GO:0050852 9.81 BRAF HRAS PIK3R1 PIK3R2
12 platelet activation GO:0030168 9.8 AKT1 PIK3R1 PTPN11 RAF1
13 cellular response to insulin stimulus GO:0032869 9.79 AKT1 PIK3R1 PIK3R2
14 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.78 AKT1 BRAF RAF1
15 T cell costimulation GO:0031295 9.77 AKT1 PIK3R1 PTPN11
16 negative regulation of signal transduction GO:0009968 9.77 BRAF GSK3B RAF1
17 phosphatidylinositol phosphorylation GO:0046854 9.73 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 insulin receptor signaling pathway GO:0008286 9.67 AKT1 GAB1 PIK3R1 PIK3R2
21 negative regulation of cell-matrix adhesion GO:0001953 9.66 NF1 PIK3R1
22 face development GO:0060324 9.66 BRAF RAF1
23 negative regulation of protein complex assembly GO:0031333 9.65 GSK3B RAF1
24 positive regulation of transcription factor import into nucleus GO:0042993 9.65 PIK3R1 PIK3R2
25 neurotrophin TRK receptor signaling pathway GO:0048011 9.64 PTPN11 RAF1
26 insulin-like growth factor receptor signaling pathway GO:0048009 9.63 AKT1 PIK3R1
27 negative regulation of MAPK cascade GO:0043409 9.63 NF1 PIK3R2 SPRED1
28 regulation of phosphatidylinositol 3-kinase activity GO:0043551 9.61 PIK3R1 PIK3R2
29 chemical synaptic transmission, postsynaptic GO:0099565 9.56 AKT1 GSK3B
30 cellular glucose homeostasis GO:0001678 9.5 PIK3R1 PIK3R2 RAF1
31 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.46 GAB1 PIK3R1 PIK3R2 PTPN11
32 positive regulation of glucose import in response to insulin stimulus GO:2001275 9.43 PIK3R1 PIK3R2 PTPN11
33 phosphatidylinositol 3-kinase signaling GO:0014065 9.26 AKT1 NF1 PIK3R1 PIK3R2
34 epidermal growth factor receptor signaling pathway GO:0007173 9.02 AKT1 GAB1 HRAS PIK3R1 PTPN11
35 signal transduction GO:0007165 10.22 AKT1 BRAF HRAS NF1 PIK3R1 PIK3R2
36 positive regulation of transcription by RNA polymerase II GO:0045944 10.1 AKT1 CDC73 HRAS PIK3R1 PIK3R2 RAF1
37 protein phosphorylation GO:0006468 10.03 AKT1 BRAF GSK3B PIK3R1 RAF1

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

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.73 AKT1 BRAF HRAS RAF1
2 mitogen-activated protein kinase kinase binding GO:0031434 9.4 BRAF RAF1
3 insulin receptor substrate binding GO:0043560 9.37 PIK3R1 PTPN11
4 1-phosphatidylinositol-3-kinase regulator activity GO:0046935 9.32 PIK3R1 PIK3R2
5 phosphatidylinositol 3-kinase regulator activity GO:0035014 9.26 PIK3R1 PIK3R2
6 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.26 GAB1 PIK3R1 PIK3R2 PTPN11
7 1-phosphatidylinositol-3-kinase activity GO:0016303 8.92 GAB1 PIK3R1 PIK3R2 PTPN11
8 protein binding GO:0005515 10 AKT1 BRAF CDC73 CDKN3 GAB1 GSK3B

Sources for Leopard Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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