MCID: LPR002
MIFTS: 55

Leopard Syndrome malady

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

Aliases & Classifications for Leopard Syndrome

Aliases & Descriptions 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:



External Ids:

Disease Ontology 12 DOID:14291
MeSH 42 D044542
NCIt 47 C84820
SNOMED-CT 64 111306001
UMLS 69 C0175704

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 3 and leopard syndrome 1, and has symptoms including cachexia, seizures and intellectual disability. An important gene associated with Leopard Syndrome is PTPN11 (Protein Tyrosine Phosphatase, Non-Receptor Type 11), and among its related pathways/superpathways are Signaling by GPCR and Innate Immune System. The drugs Imiquimod and Fluorouracil 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 57)
id Related Disease Score Top Affiliating Genes
1 leopard syndrome 3 32.7 BRAF HRAS MAP2K1 PTPN11 RAF1
2 leopard syndrome 1 12.2
3 leopard syndrome 2 12.1
4 ptpn11-related leopard syndrome 11.8
5 raf1-related leopard syndrome 11.8
6 braf-related leopard syndrome 11.7
7 noonan syndrome with multiple lentigines 11.6
8 granular cell tumor 11.2
9 lentiginosis, inherited patterned 11.0
10 noonan syndrome 1 10.8
11 pineal gland astrocytoma 10.2 BRAF NF1
12 growth hormone insensitivity with immunodeficiency 10.2 NF1 PTPN11
13 polg-related disorders 10.1 BRAF PTPN11 RAF1
14 pseudomonas stutzeri infections 10.1 BRAF PTPN11 RAF1
15 rdh12-related leber congenital amaurosis 10.1 BRAF PTPN11 RAF1
16 cardiomyopathy 10.1
17 spondylarthropathy 9.9 BRAF HRAS
18 nephrolithiasis 9.9 HRAS NF1 PTPN11
19 parotid gland adenoid cystic carcinoma 9.9 HRAS MAP2K1
20 medullary cystic kidney disease 1 9.9 HRAS NF1 PTPN11
21 neurofibromatosis 9.9
22 hyperproinsulinemia 9.9 HRAS MAP2K1 PTPN11
23 seborrheic dermatitis 9.9 HRAS NF1 PTPN11
24 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 9.8 BRAF HRAS MAP2K1
25 melanoma 9.7
26 neurofibromatosis, type 1 9.7
27 leukemia 9.7
28 glomeruloid hemangioma 9.7 BRAF HRAS NF1 PTPN11 RAF1
29 lymphoblastic leukemia 9.6
30 respiratory failure 9.6
31 wolff-parkinson-white syndrome 9.6
32 heart disease 9.6
33 syncope 9.6
34 patent ductus arteriosus 9.6
35 nevus of ota 9.6
36 neurofibromatosis-noonan syndrome 9.6
37 lipomatosis 9.6
38 steatocystoma multiplex 9.6
39 cerebritis 9.6
40 axonal neuropathy 9.6
41 pulmonary hypertension 9.6
42 neuropathy 9.6
43 infective endocarditis 9.6
44 autism spectrum disorder 9.6
45 noonan-like/multiple giant cell lesion syndrome 9.6
46 cardiac arrest 9.6
47 schizencephaly 9.6
48 mucositis 9.6
49 sudden cardiac death 9.6
50 obesity 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 cachexia 32 HP:0004326
2 seizures 32 HP:0001250
3 intellectual disability 32 HP:0001249
4 microcephaly 32 HP:0000252
5 sensorineural hearing impairment 32 HP:0000407
6 short stature 32 HP:0004322
7 hyperkeratosis 32 HP:0000962
8 hypogonadism 32 HP:0000135
9 alopecia 32 HP:0001596
10 sparse hair 32 HP:0008070

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 10.82 HRAS BRAF
2 Decreased viability GR00107-A-1 10.82 MAP2K1
3 Decreased viability GR00173-A 10.82 PIK3R2
4 Decreased viability GR00221-A-1 10.82 HRAS NF1 PIK3R2 PIK3R1 RAF1 AKT1
5 Decreased viability GR00221-A-2 10.82 HRAS NF1 PIK3R2 RAF1 AKT1
6 Decreased viability GR00221-A-3 10.82 HRAS PIK3R1 AKT1 MAP2K1
7 Decreased viability GR00221-A-4 10.82 NF1 PIK3R2 AKT1 BRAF
8 Decreased viability GR00231-A 10.82 RAF1
9 Decreased viability GR00301-A 10.82 PIK3R2 RAF1 BRAF
10 Decreased viability GR00342-S-1 10.82 MAP2K1
11 Decreased viability GR00342-S-2 10.82 MAP2K1
12 Decreased viability GR00342-S-3 10.82 MAP2K1
13 Decreased viability GR00381-A-1 10.82 BRAF
14 Increased shRNA abundance (Z-score > 2) GR00366-A-110 10.09 BRAF
15 Increased shRNA abundance (Z-score > 2) GR00366-A-118 10.09 PTPN11
16 Increased shRNA abundance (Z-score > 2) GR00366-A-121 10.09 PTPN11
17 Increased shRNA abundance (Z-score > 2) GR00366-A-138 10.09 PTPN11
18 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.09 BRAF NF1 PTPN11 RAF1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.09 RAF1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-161 10.09 RAF1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-166 10.09 BRAF
22 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.09 BRAF
23 Increased shRNA abundance (Z-score > 2) GR00366-A-178 10.09 PTPN11
24 Increased shRNA abundance (Z-score > 2) GR00366-A-190 10.09 PTPN11
25 Increased shRNA abundance (Z-score > 2) GR00366-A-194 10.09 BRAF
26 Increased shRNA abundance (Z-score > 2) GR00366-A-29 10.09 BRAF
27 Increased shRNA abundance (Z-score > 2) GR00366-A-31 10.09 BRAF
28 Increased shRNA abundance (Z-score > 2) GR00366-A-32 10.09 BRAF
29 Increased shRNA abundance (Z-score > 2) GR00366-A-37 10.09 PTPN11
30 Increased shRNA abundance (Z-score > 2) GR00366-A-46 10.09 NF1
31 Increased shRNA abundance (Z-score > 2) GR00366-A-47 10.09 BRAF PTPN11
32 Increased shRNA abundance (Z-score > 2) GR00366-A-52 10.09 RAF1
33 Increased shRNA abundance (Z-score > 2) GR00366-A-7 10.09 PTPN11
34 Increased shRNA abundance (Z-score > 2) GR00366-A-74 10.09 NF1
35 Increased shRNA abundance (Z-score > 2) GR00366-A-78 10.09 PTPN11
36 Increased shRNA abundance (Z-score > 2) GR00366-A-97 10.09 NF1
37 Decreased cell migration GR00055-A-1 9.72 AKT1 BRAF HRAS NF1 PIK3R2
38 Increased cell death in breast cancer cell lines (MCF10A, MDA-MB-435) GR00104-A-0 9.33 CDKN3 PIK3R1 PTPN11
39 Increased simian virus 40 (SV40) infection GR00356-A-2 8.8 AKT1 BRAF RAF1

MGI Mouse Phenotypes related to Leopard Syndrome:

44 (show all 20)
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.32 AKT1 BRAF CDC73 GAB1 HRAS MAP2K1
2 growth/size/body region MP:0005378 10.26 AKT1 BRAF CDC73 GAB1 HRAS MAP2K1
3 homeostasis/metabolism MP:0005376 10.24 GAB1 HRAS MAP2K1 NF1 PIK3R1 PIK3R2
4 cellular MP:0005384 10.23 AKT1 BRAF CDC73 GAB1 MAP2K1 NF1
5 embryo MP:0005380 10.15 AKT1 BRAF CDC73 GAB1 MAP2K1 NF1
6 endocrine/exocrine gland MP:0005379 10.14 AKT1 BRAF CDC73 HRAS MAP2K1 NF1
7 integument MP:0010771 10.13 GAB1 HRAS MAP2K1 NF1 PTPN11 RAF1
8 mortality/aging MP:0010768 10.13 CDC73 GAB1 HRAS MAP2K1 NF1 PIK3R1
9 craniofacial MP:0005382 10.11 BRAF GAB1 HRAS MAP2K1 NF1 PTPN11
10 liver/biliary system MP:0005370 10.06 AKT1 BRAF CDC73 GAB1 NF1 PIK3R1
11 muscle MP:0005369 10.06 AKT1 BRAF CDC73 GAB1 NF1 PIK3R1
12 digestive/alimentary MP:0005381 10.03 BRAF CDC73 GAB1 MAP2K1 NF1 PTPN11
13 neoplasm MP:0002006 10.02 NF1 PIK3R1 PIK3R2 PTPN11 RAF1 AKT1
14 adipose tissue MP:0005375 9.99 AKT1 BRAF CDC73 PIK3R1 PTPN11
15 nervous system MP:0003631 9.92 CDC73 HRAS MAP2K1 NF1 PTPN11 RAF1
16 hearing/vestibular/ear MP:0005377 9.91 BRAF MAP2K1 NF1 PTPN11 RAF1
17 normal MP:0002873 9.86 PTPN11 RAF1 AKT1 BRAF HRAS MAP2K1
18 respiratory system MP:0005388 9.7 AKT1 BRAF CDC73 HRAS NF1 PTPN11
19 skeleton MP:0005390 9.5 AKT1 BRAF HRAS MAP2K1 NF1 PTPN11
20 vision/eye MP:0005391 9.1 BRAF GAB1 MAP2K1 NF1 PTPN11 RAF1

Drugs & Therapeutics for Leopard Syndrome

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

(show all 14)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Imiquimod Approved, Investigational Phase 3 99011-02-6 57469
2
Fluorouracil Approved Phase 3 51-21-8 3385
3 interferons Phase 3
4 Adjuvants, Immunologic Phase 3
5 Anesthetics Phase 3
6 Immunosuppressive Agents Phase 3
7 Interferon Inducers Phase 3
8 Antimetabolites Phase 3
9 Antimetabolites, Antineoplastic Phase 3
10
Maraviroc Approved, Investigational Phase 1 376348-65-1 3002977
11 Anti-HIV Agents Phase 1
12 Anti-Infective Agents Phase 1
13 Anti-Retroviral Agents Phase 1
14 Antiviral Agents Phase 1

Interventional clinical trials:


id Name Status NCT ID Phase
1 Topical or Ablative Treatment in Preventing Anal Cancer in Patients With HIV and Anal High-Grade Squamous Intraepithelial Lesions Recruiting NCT02135419 Phase 3
2 Safety and Pharmacokinetics of Dapivirine/Maraviroc Vaginal Ring Completed NCT01363037 Phase 1
3 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 148)
id Title Authors Year
1
LEOPARD syndrome and multiple granular cell tumors: An underreported association? ( 26728819 )
2016
2
Erratum: LEOPARD syndrome and multiple granular cell tumors: An underreported association? ( 26924415 )
2016
3
Determination of the catalytic activity of LEOPARD syndrome-associated SHP2 mutants toward parafibromin, a bona fide SHP2 substrate involved in Wnt signaling. ( 26742426 )
2016
4
The experience of bilateral cochlear implantation in a child with LEOPARD syndrome. ( 27729118 )
2016
5
Identification of a PTPN11 hot spot mutation in a child with atypical LEOPARD syndrome. ( 27484170 )
2016
6
LEOPARD Syndrome. ( 26632807 )
2015
7
Phenotypical diversity of patients with LEOPARD syndrome carrying the worldwide recurrent p.Tyr279Cys PTPN11 mutation. ( 26377839 )
2015
8
Pathogenesis of Multiple Lentigines in LEOPARD Syndrome with PTPN11 Gene Mutation. ( 25917897 )
2015
9
LEOPARD syndrome: you could be the first one to diagnose! ( 25572376 )
2015
10
LEOPARD Syndrome with Patent Ductus Arteriosus and Hypertrophic Cardiomyopathy. ( 26591153 )
2015
11
PTPN11 mutation manifesting as LEOPARD syndrome associated with hypertrophic plexi and neuropathic pain. ( 25884655 )
2015
12
LEOPARD syndrome and multiple granular cell tumors: An underreported association? ( 26658397 )
2015
13
Anesthesia and LEOPARD syndrome: a review of forty-nine anesthetic exposures. ( 24461361 )
2014
14
Leopard syndrome: a report of five cases from one family in two generations. ( 24401936 )
2014
15
PZR coordinates Shp2 Noonan and LEOPARD syndrome signaling in zebrafish and mice. ( 24865967 )
2014
16
LEOPARD Syndrome Without Hearing Loss or Pulmonary Stenosis: A Report of 2 Cases. ( 25544017 )
2014
17
LEOPARD syndrome: maxillofacial care. ( 24705231 )
2014
18
Noonan and LEOPARD syndrome Shp2 variants induce heart displacement defects in zebrafish. ( 24718990 )
2014
19
Phosphoproteomics-mediated identification of Fer kinase as a target of mutant Shp2 in Noonan and LEOPARD syndrome. ( 25184253 )
2014
20
Structural insights into Noonan/LEOPARD syndrome-related mutants of protein-tyrosine phosphatase SHP2 (PTPN11). ( 24628801 )
2014
21
Leopard syndrome caused by heterozygous missense mutation of Tyr 279 Cys in the PTPN11 gene in a sporadic case of Chinese Han. ( 24820750 )
2014
22
Molecular basis of gain-of-function LEOPARD syndrome-associated SHP2 mutations. ( 24935154 )
2014
23
LEOPARD syndrome-associated SHP2 mutation confers leanness and protection from diet-induced obesity. ( 25288766 )
2014
24
LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies. ( 24767283 )
2014
25
LEOPARD syndrome with Wolff-Parkinson-White syndrome on electrocardiography. ( 24177621 )
2013
26
Syndromic Hearing Loss in Association with PTPN11-Related Disorder: The Experience of Cochlear Implantation in a Child with LEOPARD Syndrome. ( 23799168 )
2013
27
RASopathies: From Noonan to LEOPARD Syndrome. ( 23830833 )
2013
28
LEOPARD syndrome: a variant of Noonan syndrome strongly associated with hypertrophic cardiomyopathy. ( 24775816 )
2013
29
LEOPARD Syndrome: A Variant of Noonan Syndrome Strongly Associated With Hypertrophic Cardiomyopathy. ( 23312806 )
2013
30
New approaches to prevent LEOPARD syndrome-associated cardiac hypertrophy by specifically targeting Shp2-dependent signaling. ( 23673659 )
2013
31
RASopathies: from Noonan to LEOPARD syndrome. ( 24773692 )
2013
32
Scalp melanoma in a woman with LEOPARD syndrome: possible implication of PTPN11 signaling in melanoma pathogenesis. ( 24034393 )
2013
33
Structural and mechanistic insights into LEOPARD syndrome-associated SHP2 mutations. ( 23457302 )
2013
34
A rare cause of dyspnoea: the LEOPARD syndrome. ( 23905457 )
2013
35
LEOPARD syndrome with rare skeletal anomalies: A case report. ( 24082226 )
2013
36
Delayed primary diagnosis of LEOPARD syndrome type 1. ( 23317994 )
2013
37
LEOPARD Syndrome Caused by Tyr279Cys Mutation in the PTPN11 Gene. ( 22822385 )
2012
38
LEOPARD syndrome. ( 22832481 )
2012
39
Extensive abdominal lipomatosis in a patient with Noonan/LEOPARD syndrome (Noonan syndrome-Multiple Lentigines). ( 22528600 )
2012
40
LEOPARD Syndrome: Clinical Features and Gene Mutations. ( 23239957 )
2012
41
An uncommon association between skin lesions and LEOPARD syndrome affected an old patient. Case report. ( 21657161 )
2011
42
LEOPARD syndrome (PTPN11, T468M) in three boys fulfilling neurofibromatosis type 1 clinical criteria. ( 21365175 )
2011
43
LEOPARD syndrome in an infant with severe hypertrophic cardiomyopathy and PTPN11 mutation. ( 21677813 )
2011
44
Two cases of LEOPARD syndrome--RAF1 mutations firstly described in children. ( 22389993 )
2011
45
A familial case of LEOPARD syndrome associated with a high-functioning autism spectrum disorder. ( 21093184 )
2011
46
Implantable cardioverter defibrillator for progressive hypertrophic cardiomyopathy in a patient with LEOPARD syndrome and a novel PTPN11 mutation Gln510His. ( 21910226 )
2011
47
Rapamycin reverses hypertrophic cardiomyopathy in a mouse model of LEOPARD syndrome-associated PTPN11 mutation. ( 21339643 )
2011
48
LEOPARD Syndrome with PTPN11 Gene Mutation Showing Six Cardinal Symptoms of LEOPARD. ( 21747628 )
2011
49
Generalized lentiginosis, short stature, and multiple cutaneous nodules--quiz case. LEOPARD syndrome (LS) associated with multiple granular cell tumors (GCTs). ( 20231512 )
2010
50
Phosphatase-dependent and -independent functions of Shp2 in neural crest cells underlie LEOPARD syndrome pathogenesis. ( 20493809 )
2010

Variations for Leopard Syndrome

ClinVar genetic disease variations for Leopard Syndrome:

6
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

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 234)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
14.25 AKT1 BRAF CDC73 GAB1 HRAS MAP2K1
2
Show member pathways
14.12 AKT1 BRAF GAB1 HRAS MAP2K1 NF1
3
Show member pathways
13.95 AKT1 BRAF GAB1 HRAS MAP2K1 NF1
4
Show member pathways
13.95 AKT1 BRAF GAB1 HRAS MAP2K1 PIK3R1
5
Show member pathways
13.84 AKT1 BRAF GAB1 HRAS MAP2K1 NF1
6
Show member pathways
13.76 AKT1 BRAF HRAS MAP2K1 PIK3R1 PIK3R2
7
Show member pathways
13.72 AKT1 BRAF HRAS MAP2K1 PIK3R1 PIK3R2
8
Show member pathways
13.66 AKT1 BRAF HRAS MAP2K1 PIK3R1 PIK3R2
9
Show member pathways
13.65 AKT1 BRAF GAB1 HRAS MAP2K1 NF1
10
Show member pathways
13.64 AKT1 BRAF HRAS MAP2K1 PIK3R1 PIK3R2
11
Show member pathways
13.55 AKT1 GAB1 HRAS PIK3R1 PIK3R2 PTPN11
12
Show member pathways
13.52 AKT1 BRAF HRAS MAP2K1 NF1 PIK3R1
13
Show member pathways
13.51 AKT1 BRAF HRAS MAP2K1 PIK3R1 PIK3R2
14
Show member pathways
13.47 AKT1 GAB1 HRAS PIK3R1 PIK3R2 RAF1
15
Show member pathways
13.41 AKT1 BRAF HRAS MAP2K1 PIK3R1 PIK3R2
16
Show member pathways
13.4 AKT1 HRAS MAP2K1 PIK3R1 PIK3R2 RAF1
17
Show member pathways
13.4 AKT1 HRAS PIK3R1 PIK3R2 PTPN11 RAF1
18
Show member pathways
13.34 AKT1 BRAF HRAS MAP2K1 PIK3R1 PIK3R2
19
Show member pathways
13.23 AKT1 BRAF HRAS MAP2K1 PIK3R1 PIK3R2
20
Show member pathways
13.21 AKT1 GAB1 HRAS MAP2K1 PIK3R1 PIK3R2
21
Show member pathways
13.19 AKT1 BRAF GAB1 HRAS MAP2K1 NF1
22
Show member pathways
13.18 AKT1 GAB1 PIK3R1 PIK3R2 PTPN11
23
Show member pathways
13.18 AKT1 BRAF GAB1 HRAS MAP2K1 PIK3R1
24
Show member pathways
13.1 AKT1 BRAF HRAS MAP2K1 PIK3R1 PIK3R2
25
Show member pathways
13.1 AKT1 BRAF GAB1 HRAS MAP2K1 PIK3R1
26
Show member pathways
13.08 AKT1 BRAF HRAS MAP2K1 PIK3R1 PIK3R2
27
Show member pathways
13.08 AKT1 BRAF GAB1 HRAS MAP2K1 PIK3R1
28
Show member pathways
13.07 AKT1 HRAS MAP2K1 PIK3R1 PIK3R2 RAF1
29
Show member pathways
13.07 AKT1 BRAF HRAS MAP2K1 PIK3R1 PIK3R2
30
Show member pathways
13.06 AKT1 HRAS MAP2K1 PIK3R1 PIK3R2 RAF1
31
Show member pathways
13.06 AKT1 BRAF HRAS MAP2K1 PIK3R1 PIK3R2
32
Show member pathways
13.05 AKT1 BRAF HRAS MAP2K1 PIK3R1 PIK3R2
33
Show member pathways
13 AKT1 BRAF HRAS MAP2K1 RAF1
34
Show member pathways
13 BRAF HRAS MAP2K1 PIK3R1 PIK3R2 RAF1
35
Show member pathways
13 AKT1 BRAF HRAS MAP2K1 PIK3R1 PIK3R2
36
Show member pathways
12.99 AKT1 BRAF HRAS MAP2K1 PIK3R1 PIK3R2
37
Show member pathways
12.98 AKT1 HRAS MAP2K1 PIK3R1 PIK3R2 RAF1
38
Show member pathways
12.97 AKT1 MAP2K1 PIK3R1 PIK3R2 PTPN11 RAF1
39
Show member pathways
12.96 AKT1 HRAS MAP2K1 PIK3R1 PIK3R2 RAF1
40
Show member pathways
12.96 AKT1 BRAF GAB1 HRAS MAP2K1 PIK3R1
41
Show member pathways
12.94 AKT1 HRAS MAP2K1 RAF1
42
Show member pathways
12.91 AKT1 GAB1 HRAS PIK3R1 PIK3R2 PTPN11
43
Show member pathways
12.9 AKT1 HRAS MAP2K1 PIK3R1 PIK3R2
44 12.9 AKT1 BRAF HRAS MAP2K1 NF1 RAF1
45 12.88 AKT1 BRAF HRAS MAP2K1 PIK3R1 PIK3R2
46
Show member pathways
12.88 AKT1 BRAF HRAS MAP2K1 PIK3R1 PIK3R2
47
Show member pathways
12.88 AKT1 BRAF HRAS MAP2K1 PIK3R1 PIK3R2
48
Show member pathways
12.82 AKT1 HRAS MAP2K1 PIK3R1 PIK3R2 RAF1
49 12.82 BRAF HRAS MAP2K1 PIK3R1 PIK3R2 RAF1
50
Show member pathways
12.81 BRAF MAP2K1 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 cytoplasm GO:0005737 9.96 AKT1 BRAF CDKN3 GAB1 HRAS MAP2K1
2 nucleus GO:0005634 9.7 AKT1 BRAF CDC73 CDKN3 HRAS MAP2K1
3 cytosol GO:0005829 9.4 AKT1 BRAF CDC73 CDKN3 GAB1 HRAS
4 phosphatidylinositol 3-kinase complex GO:0005942 9.16 PIK3R1 PIK3R2

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

(show all 43)
id Name GO ID Score Top Affiliating Genes
1 cell proliferation GO:0008283 9.97 AKT1 GAB1 HRAS RAF1
2 MAPK cascade GO:0000165 9.93 BRAF HRAS MAP2K1 NF1 RAF1
3 leukocyte migration GO:0050900 9.91 HRAS PIK3R1 PIK3R2 PTPN11
4 axon guidance GO:0007411 9.91 GAB1 HRAS PIK3R1 PTPN11
5 heart development GO:0007507 9.91 GAB1 MAP2K1 NF1 PTPN11 RAF1
6 T cell receptor signaling pathway GO:0050852 9.88 BRAF HRAS PIK3R1 PIK3R2
7 negative regulation of cell proliferation GO:0008285 9.88 CDC73 CDKN3 HRAS MAP2K1 NF1 RAF1
8 platelet activation GO:0030168 9.87 AKT1 PIK3R1 PTPN11 RAF1
9 positive regulation of protein phosphorylation GO:0001934 9.86 AKT1 HRAS RAF1
10 cell cycle arrest GO:0007050 9.86 CDKN3 HRAS MAP2K1
11 phosphatidylinositol phosphorylation GO:0046854 9.85 GAB1 PIK3R1 PIK3R2 PTPN11
12 cellular response to insulin stimulus GO:0032869 9.83 AKT1 PIK3R1 PIK3R2
13 T cell costimulation GO:0031295 9.82 AKT1 PIK3R1 PTPN11
14 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.81 AKT1 BRAF RAF1
15 insulin receptor signaling pathway GO:0008286 9.78 AKT1 GAB1 PIK3R1 PIK3R2
16 thymus development GO:0048538 9.77 BRAF MAP2K1 RAF1
17 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.77 BRAF HRAS MAP2K1 PTPN11 RAF1
18 ERBB2 signaling pathway GO:0038128 9.76 GAB1 HRAS PIK3R1
19 thyroid gland development GO:0030878 9.73 BRAF MAP2K1 RAF1
20 face development GO:0060324 9.7 BRAF MAP2K1 RAF1
21 cellular senescence GO:0090398 9.69 HRAS MAP2K1
22 negative regulation of osteoclast differentiation GO:0045671 9.68 NF1 PIK3R1
23 regulation of long-term neuronal synaptic plasticity GO:0048169 9.68 HRAS NF1
24 positive regulation of transcription factor import into nucleus GO:0042993 9.68 PIK3R1 PIK3R2
25 negative regulation of cell-matrix adhesion GO:0001953 9.67 NF1 PIK3R1
26 neurotrophin TRK receptor signaling pathway GO:0048011 9.67 PTPN11 RAF1
27 cellular glucose homeostasis GO:0001678 9.67 PIK3R1 PIK3R2 RAF1
28 insulin-like growth factor receptor signaling pathway GO:0048009 9.66 AKT1 PIK3R1
29 labyrinthine layer development GO:0060711 9.66 GAB1 MAP2K1
30 Bergmann glial cell differentiation GO:0060020 9.64 MAP2K1 PTPN11
31 regulation of phosphatidylinositol 3-kinase activity GO:0043551 9.64 PIK3R1 PIK3R2
32 regulation of axon regeneration GO:0048679 9.63 BRAF MAP2K1
33 positive regulation of glucose import in response to insulin stimulus GO:2001275 9.63 PIK3R1 PIK3R2 PTPN11
34 epidermal growth factor receptor signaling pathway GO:0007173 9.62 GAB1 HRAS PIK3R1 PTPN11
35 cerebellar cortex formation GO:0021697 9.59 MAP2K1 PTPN11
36 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.56 GAB1 PIK3R1 PIK3R2 PTPN11
37 phosphatidylinositol-mediated signaling GO:0048015 9.55 AKT1 GAB1 PIK3R1 PIK3R2 PTPN11
38 phosphatidylinositol 3-kinase signaling GO:0014065 9.26 AKT1 NF1 PIK3R1 PIK3R2
39 regulation of phosphatidylinositol 3-kinase signaling GO:0014066 9.02 AKT1 GAB1 PIK3R1 PIK3R2 PTPN11
40 positive regulation of transcription from RNA polymerase II promoter GO:0045944 10.1 AKT1 CDC73 HRAS PIK3R1 PIK3R2 RAF1
41 signal transduction GO:0007165 10.09 AKT1 BRAF GAB1 HRAS MAP2K1 NF1
42 protein phosphorylation GO:0006468 10.05 AKT1 BRAF MAP2K1 PIK3R1 RAF1
43 negative regulation of apoptotic process GO:0043066 10.02 AKT1 BRAF CDC73 PIK3R1 RAF1

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

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 protein serine/threonine kinase activity GO:0004674 9.76 AKT1 BRAF MAP2K1 RAF1
2 nucleotide binding GO:0000166 9.55 AKT1 BRAF HRAS MAP2K1 RAF1
3 small GTPase binding GO:0031267 9.49 BRAF RAF1
4 MAP kinase kinase kinase activity GO:0004709 9.48 BRAF RAF1
5 mitogen-activated protein kinase kinase binding GO:0031434 9.43 BRAF RAF1
6 insulin receptor substrate binding GO:0043560 9.4 PIK3R1 PTPN11
7 1-phosphatidylinositol-3-kinase regulator activity GO:0046935 9.32 PIK3R1 PIK3R2
8 phosphatidylinositol 3-kinase regulator activity GO:0035014 9.26 PIK3R1 PIK3R2
9 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.26 GAB1 PIK3R1 PIK3R2 PTPN11
10 1-phosphatidylinositol-3-kinase activity GO:0016303 8.92 GAB1 PIK3R1 PIK3R2 PTPN11
11 protein binding GO:0005515 10.15 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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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