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 53 37 55 44 15 38 73
Multiple Lentigines Syndrome 12 53
Lentigines, Electrocardiographic Conduction Abnormalities, Ocular Hypertelorism, Pulmonic Stenosis, Abnormal Genitalia, Retardation of Growth, Deafnes 53
Capute-Rimoin-Konigsmark-Esterly-Richardson Syndrome 12
Alopecia Epilepsy Oligophrenia Syndrome of Moynahan 73
Progressive Cardiomyopathic Lentiginosis Syndrome 73
Progressive Cardiomyopathic Lentiginosis 12
Noonan Syndrome with Multiple Lentigines 53
Lentiginosis Profusa Syndrome 12
Cardiomyopathic Lentiginosis 53
Cardiocutaneous Syndrome 12
Generalized Lentiginosis 12
Lentiginosis Profusa 73
Gorlin Syndrome Ii 12
Moynahan Syndrome 12

Classifications:



Summaries for Leopard Syndrome

NIH Rare Diseases : 53 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.

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 hyposmia and seizures. 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 hypogonadism and microcephaly

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 88)
# Related Disease Score Top Affiliating Genes
1 noonan syndrome with multiple lentigines 32.7 BRAF PTPN11 RAF1
2 legius syndrome 31.7 NF1 PTPN11
3 lentigines 30.4 BRAF PTPN11 RAF1
4 neurofibromatosis-noonan syndrome 30.0 NF1 PTPN11
5 hypertrophic cardiomyopathy 29.9 HRAS PTPN11 RAF1
6 neurofibromatosis, type iv, of riccardi 29.3 HRAS NF1 PTPN11
7 noonan syndrome 1 29.1 BRAF GAB1 HRAS NF1 PTPN11 RAF1
8 leopard syndrome 1 12.4
9 leopard syndrome 2 12.3
10 leopard syndrome 3 12.3
11 granular cell tumor 11.2
12 lentiginosis, inherited patterned 11.2
13 cardiomyopathy, dilated, with woolly hair and keratoderma 11.0
14 cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis 11.0
15 autosomal dominant café au lait spots 10.4 NF1 PTPN11
16 dengue disease 10.3 PTPN11 RAF1
17 spitz nevus 10.3 BRAF HRAS
18 pilocytic astrocytoma of cerebellum 10.3 BRAF NF1
19 mucosal melanoma 10.2 BRAF NF1
20 costello syndrome 10.2 HRAS PTPN11
21 deafness, autosomal recessive 26 10.2 GAB1 PTPN11
22 skin squamous cell carcinoma 10.1 BRAF HRAS
23 vulvar melanoma 10.1 HRAS NF1
24 lung benign neoplasm 10.1 HRAS RAF1
25 hypertelorism 10.1 BRAF PTPN11 RAF1
26 sporadic pheochromocytoma 10.1 HRAS NF1
27 pseudo-turner syndrome 10.0
28 naxos disease 10.0
29 cardiofaciocutaneous syndrome 1 9.9 BRAF HRAS PTPN11
30 neurofibromatosis, type i 9.9
31 melanoma 9.9
32 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.8
33 leukemia 9.8
34 type i 9.8
35 myelodysplastic myeloproliferative cancer 9.8 HRAS NF1 PTPN11
36 proteus syndrome 9.7 AKT1 CDKN3
37 bone marrow cancer 9.7 HRAS NF1 PTPN11
38 cardiac conduction defect 9.6
39 marfan syndrome 9.6
40 steatocystoma multiplex 9.6
41 wolff-parkinson-white syndrome 9.6
42 alopecia-epilepsy-oligophrenia syndrome of moynahan 9.6
43 autism 9.6
44 schizencephaly 9.6
45 patent ductus arteriosus 1 9.6
46 leukemia, acute lymphoblastic 9.6
47 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 9.6
48 pulmonary hypertension 9.6
49 infective endocarditis 9.6
50 autism spectrum disorder 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)
# Description HPO Frequency HPO Source Accession
1 hypogonadism 32 frequent (33%) HP:0000135
2 microcephaly 32 frequent (33%) HP:0000252
3 sensorineural hearing impairment 32 occasional (7.5%) HP:0000407
4 hyperkeratosis 32 occasional (7.5%) HP:0000962
5 intellectual disability 32 hallmark (90%) HP:0001249
6 seizures 32 frequent (33%) HP:0001250
7 alopecia 32 hallmark (90%) HP:0001596
8 short stature 32 frequent (33%) HP:0004322
9 cachexia 32 frequent (33%) HP:0004326
10 sparse hair 32 frequent (33%) HP:0008070

UMLS symptoms related to Leopard Syndrome:


hyposmia, seizures

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

26 (show all 36)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.6 HRAS
2 Decreased viability GR00221-A-1 10.6 AKT1 HRAS NF1 RAF1
3 Decreased viability GR00221-A-2 10.6 HRAS AKT1 NF1 RAF1
4 Decreased viability GR00221-A-3 10.6 HRAS AKT1
5 Decreased viability GR00221-A-4 10.6 AKT1 NF1
6 Decreased viability GR00231-A 10.6 RAF1
7 Decreased viability GR00301-A 10.6 RAF1
8 Decreased viability GR00402-S-2 10.6 AKT1 HRAS NF1 RAF1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-110 10.1 BRAF
10 Increased shRNA abundance (Z-score > 2) GR00366-A-116 10.1 RAF1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-118 10.1 PTPN11
12 Increased shRNA abundance (Z-score > 2) GR00366-A-121 10.1 PTPN11
13 Increased shRNA abundance (Z-score > 2) GR00366-A-138 10.1 PTPN11
14 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.1 NF1 BRAF PTPN11 RAF1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.1 RAF1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-161 10.1 RAF1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-166 10.1 BRAF
18 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.1 BRAF
19 Increased shRNA abundance (Z-score > 2) GR00366-A-178 10.1 PTPN11
20 Increased shRNA abundance (Z-score > 2) GR00366-A-190 10.1 PTPN11
21 Increased shRNA abundance (Z-score > 2) GR00366-A-194 10.1 BRAF
22 Increased shRNA abundance (Z-score > 2) GR00366-A-29 10.1 BRAF
23 Increased shRNA abundance (Z-score > 2) GR00366-A-31 10.1 BRAF
24 Increased shRNA abundance (Z-score > 2) GR00366-A-32 10.1 BRAF
25 Increased shRNA abundance (Z-score > 2) GR00366-A-37 10.1 PTPN11
26 Increased shRNA abundance (Z-score > 2) GR00366-A-46 10.1 NF1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-47 10.1 BRAF PTPN11
28 Increased shRNA abundance (Z-score > 2) GR00366-A-52 10.1 RAF1
29 Increased shRNA abundance (Z-score > 2) GR00366-A-7 10.1 PTPN11
30 Increased shRNA abundance (Z-score > 2) GR00366-A-74 10.1 NF1
31 Increased shRNA abundance (Z-score > 2) GR00366-A-78 10.1 PTPN11
32 Increased shRNA abundance (Z-score > 2) GR00366-A-97 10.1 NF1
33 Decreased cell migration GR00055-A-1 9.67 AKT1 NF1 BRAF HRAS
34 Increased cell migration GR00055-A-3 9.33 HRAS NF1 BRAF
35 Decreased viability after Chlamydia trachomatis serovar L2 infection and TNF-alpha/CHX stimulation GR00206-A 9.26 AKT1 RAF1
36 Increased simian virus 40 (SV40) infection GR00356-A-2 8.8 BRAF AKT1 RAF1

MGI Mouse Phenotypes related to Leopard Syndrome:

46 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.12 AKT1 GAB1 HRAS BRAF NF1 RAF1
2 cardiovascular system MP:0005385 10.11 AKT1 GAB1 HRAS BRAF NF1 RAF1
3 growth/size/body region MP:0005378 10.05 GAB1 AKT1 HRAS BRAF PTPN11 NF1
4 craniofacial MP:0005382 10.03 GAB1 BRAF HRAS NF1 RAF1 PTPN11
5 homeostasis/metabolism MP:0005376 10.02 AKT1 GAB1 HRAS BRAF PTPN11 NF1
6 embryo MP:0005380 10.01 AKT1 GAB1 BRAF NF1 RAF1 PTPN11
7 endocrine/exocrine gland MP:0005379 10 AKT1 HRAS BRAF PTPN11 NF1 RAF1
8 integument MP:0010771 10 GAB1 BRAF HRAS AKT1 NF1 RAF1
9 digestive/alimentary MP:0005381 9.95 GAB1 HRAS BRAF PTPN11 NF1
10 mortality/aging MP:0010768 9.95 BRAF AKT1 GAB1 PTPN11 NF1 RAF1
11 liver/biliary system MP:0005370 9.91 AKT1 GAB1 BRAF NF1 RAF1 PTPN11
12 muscle MP:0005369 9.85 AKT1 GAB1 BRAF NF1 RAF1 PTPN11
13 hearing/vestibular/ear MP:0005377 9.8 BRAF PTPN11 NF1 RAF1
14 neoplasm MP:0002006 9.8 AKT1 BRAF HRAS NF1 RAF1 PTPN11
15 normal MP:0002873 9.73 AKT1 HRAS BRAF NF1 RAF1 PTPN11
16 respiratory system MP:0005388 9.63 AKT1 BRAF HRAS NF1 RAF1 PTPN11
17 skeleton MP:0005390 9.43 AKT1 HRAS BRAF NF1 RAF1 PTPN11
18 vision/eye MP:0005391 9.02 BRAF GAB1 PTPN11 NF1 RAF1

Drugs & Therapeutics for Leopard Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Hormonal Sensitivity in Patients With Noonan and LEOPARD Syndromes Unknown status 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:

41
Skin, Heart, Eye

Publications for Leopard Syndrome

Articles related to Leopard Syndrome:

(show top 50) (show all 159)
# Title Authors Year
1
Patient with confirmed LEOPARD syndrome developing multiple melanoma. ( 29445579 )
2018
2
Accelerated Cardiomyocyte Proliferation in the Heart of a Neonate With LEOPARD Syndrome-Associated Fatal Cardiomyopathy. ( 29602897 )
2018
3
A Rare Case of Left Ventricular Noncompaction in LEOPARD Syndrome. ( 29629024 )
2018
4
Generalised lentiginosis and cafAc noir spots leading to a diagnosis of LEOPARD syndrome. ( 29891643 )
2018
5
Importance of cardiovascular examination in patients with multiple lentigines: two cases of LEOPARD syndrome with hypertrophic cardiomyopathy. ( 29717636 )
2018
6
Clinical, pathological and dermoscopic characteristics of cutaneous lesions in LEOPARD syndrome. ( 28862807 )
2017
7
Do you know this syndrome? Leopard syndrome. ( 28225973 )
2017
8
Determination of the catalytic activity of LEOPARD syndrome-associated SHP2 mutants toward parafibromin, a bona fide SHP2 substrate involved in Wnt signaling. ( 26742426 )
2016
9
Identification of a PTPN11 hot spot mutation in a child with atypical LEOPARD syndrome. ( 27484170 )
2016
10
Erratum: LEOPARD syndrome and multiple granular cell tumors: An underreported association? ( 26924415 )
2016
11
LEOPARD syndrome and multiple granular cell tumors: An underreported association? ( 26728819 )
2016
12
The experience of bilateral cochlear implantation in a child with LEOPARD syndrome. ( 27729118 )
2016
13
LEOPARD syndrome and multiple granular cell tumors: An underreported association? ( 26658397 )
2015
14
LEOPARD syndrome: you could be the first one to diagnose! ( 25572376 )
2015
15
PTPN11 mutation manifesting as LEOPARD syndrome associated with hypertrophic plexi and neuropathic pain. ( 25884655 )
2015
16
Pathogenesis of Multiple Lentigines in LEOPARD Syndrome with PTPN11 Gene Mutation. ( 25917897 )
2015
17
Phenotypical diversity of patients with LEOPARD syndrome carrying the worldwide recurrent p.Tyr279Cys PTPN11 mutation. ( 26377839 )
2015
18
LEOPARD Syndrome with Patent Ductus Arteriosus and Hypertrophic Cardiomyopathy. ( 26591153 )
2015
19
LEOPARD Syndrome. ( 26632807 )
2015
20
Anesthesia and LEOPARD syndrome: a review of forty-nine anesthetic exposures. ( 24461361 )
2014
21
LEOPARD syndrome: maxillofacial care. ( 24705231 )
2014
22
LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies. ( 24767283 )
2014
23
LEOPARD syndrome-associated SHP2 mutation confers leanness and protection from diet-induced obesity. ( 25288766 )
2014
24
Leopard syndrome: a report of five cases from one family in two generations. ( 24401936 )
2014
25
Molecular basis of gain-of-function LEOPARD syndrome-associated SHP2 mutations. ( 24935154 )
2014
26
Noonan and LEOPARD syndrome Shp2 variants induce heart displacement defects in zebrafish. ( 24718990 )
2014
27
LEOPARD Syndrome Without Hearing Loss or Pulmonary Stenosis: A Report of 2 Cases. ( 25544017 )
2014
28
PZR coordinates Shp2 Noonan and LEOPARD syndrome signaling in zebrafish and mice. ( 24865967 )
2014
29
Phosphoproteomics-mediated identification of Fer kinase as a target of mutant Shp2 in Noonan and LEOPARD syndrome. ( 25184253 )
2014
30
Structural insights into Noonan/LEOPARD syndrome-related mutants of protein-tyrosine phosphatase SHP2 (PTPN11). ( 24628801 )
2014
31
Leopard syndrome caused by heterozygous missense mutation of Tyr 279 Cys in the PTPN11 gene in a sporadic case of Chinese Han. ( 24820750 )
2014
32
Syndromic Hearing Loss in Association with PTPN11-Related Disorder: The Experience of Cochlear Implantation in a Child with LEOPARD Syndrome. ( 23799168 )
2013
33
Delayed primary diagnosis of LEOPARD syndrome type 1. ( 23317994 )
2013
34
RASopathies: From Noonan to LEOPARD Syndrome. ( 23830833 )
2013
35
LEOPARD Syndrome: A Variant of Noonan Syndrome Strongly Associated With Hypertrophic Cardiomyopathy. ( 23312806 )
2013
36
Structural and mechanistic insights into LEOPARD syndrome-associated SHP2 mutations. ( 23457302 )
2013
37
LEOPARD syndrome with Wolff-Parkinson-White syndrome on electrocardiography. ( 24177621 )
2013
38
RASopathies: from Noonan to LEOPARD syndrome. ( 24773692 )
2013
39
LEOPARD syndrome with rare skeletal anomalies: A case report. ( 24082226 )
2013
40
LEOPARD syndrome: a variant of Noonan syndrome strongly associated with hypertrophic cardiomyopathy. ( 24775816 )
2013
41
New approaches to prevent LEOPARD syndrome-associated cardiac hypertrophy by specifically targeting Shp2-dependent signaling. ( 23673659 )
2013
42
A rare cause of dyspnoea: the LEOPARD syndrome. ( 23905457 )
2013
43
Scalp melanoma in a woman with LEOPARD syndrome: possible implication of PTPN11 signaling in melanoma pathogenesis. ( 24034393 )
2013
44
LEOPARD Syndrome: Clinical Features and Gene Mutations. ( 23239957 )
2012
45
Extensive abdominal lipomatosis in a patient with Noonan/LEOPARD syndrome (Noonan syndrome-Multiple Lentigines). ( 22528600 )
2012
46
LEOPARD Syndrome Caused by Tyr279Cys Mutation in the PTPN11 Gene. ( 22822385 )
2012
47
LEOPARD syndrome. ( 22832481 )
2012
48
LEOPARD syndrome (PTPN11, T468M) in three boys fulfilling neurofibromatosis type 1 clinical criteria. ( 21365175 )
2011
49
A familial case of LEOPARD syndrome associated with a high-functioning autism spectrum disorder. ( 21093184 )
2011
50
LEOPARD Syndrome with PTPN11 Gene Mutation Showing Six Cardinal Symptoms of LEOPARD. ( 21747628 )
2011

Variations for Leopard Syndrome

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:

37
# 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 157)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.06 AKT1 BRAF GAB1 HRAS NF1 PTPN11
2
Show member pathways
13.93 AKT1 BRAF GAB1 HRAS NF1 PTPN11
3
Show member pathways
13.77 AKT1 BRAF GAB1 HRAS PTPN11 RAF1
4
Show member pathways
13.76 AKT1 BRAF GAB1 HRAS NF1 RAF1
5
Show member pathways
13.64 AKT1 BRAF GAB1 HRAS NF1 PTPN11
6
Show member pathways
13.41 AKT1 BRAF GAB1 HRAS NF1 PTPN11
7
Show member pathways
13.38 AKT1 GAB1 HRAS PTPN11 RAF1
8
Show member pathways
13.32 AKT1 BRAF HRAS NF1 PTPN11 RAF1
9
Show member pathways
13 AKT1 BRAF HRAS RAF1
10
Show member pathways
13 AKT1 BRAF GAB1 HRAS RAF1
11
Show member pathways
12.99 AKT1 GAB1 HRAS RAF1
12
Show member pathways
12.98 AKT1 BRAF HRAS RAF1
13
Show member pathways
12.97 AKT1 BRAF HRAS RAF1
14
Show member pathways
12.89 AKT1 BRAF HRAS PTPN11 RAF1
15
Show member pathways
12.88 AKT1 BRAF HRAS RAF1
16
Show member pathways
12.88 AKT1 BRAF GAB1 HRAS RAF1
17
Show member pathways
12.87 AKT1 BRAF HRAS RAF1
18
Show member pathways
12.86 AKT1 BRAF HRAS PTPN11 RAF1
19
Show member pathways
12.85 AKT1 BRAF HRAS RAF1
20
Show member pathways
12.85 AKT1 BRAF GAB1 HRAS PTPN11 RAF1
21
Show member pathways
12.83 AKT1 BRAF HRAS RAF1
22 12.81 AKT1 BRAF HRAS RAF1
23
Show member pathways
12.78 AKT1 BRAF HRAS RAF1
24
Show member pathways
12.77 AKT1 BRAF HRAS RAF1
25
Show member pathways
12.77 AKT1 BRAF HRAS RAF1
26 12.76 AKT1 BRAF HRAS NF1 RAF1
27
Show member pathways
12.76 AKT1 BRAF GAB1 HRAS RAF1
28
Show member pathways
12.72 AKT1 BRAF GAB1 HRAS NF1 RAF1
29
Show member pathways
12.71 AKT1 GAB1 HRAS PTPN11
30
Show member pathways
12.71 AKT1 BRAF HRAS RAF1
31
Show member pathways
12.67 AKT1 BRAF GAB1 HRAS PTPN11 RAF1
32
Show member pathways
12.66 AKT1 BRAF HRAS RAF1
33
Show member pathways
12.66 AKT1 BRAF HRAS RAF1
34
Show member pathways
12.65 AKT1 HRAS PTPN11 RAF1
35
Show member pathways
12.59 AKT1 HRAS PTPN11 RAF1
36
Show member pathways
12.58 AKT1 HRAS PTPN11 RAF1
37
Show member pathways
12.57 BRAF GAB1 HRAS PTPN11
38
Show member pathways
12.53 BRAF HRAS PTPN11 RAF1
39
Show member pathways
12.53 AKT1 BRAF GAB1 HRAS RAF1
40
Show member pathways
12.52 AKT1 GAB1 HRAS PTPN11 RAF1
41
Show member pathways
12.51 AKT1 BRAF HRAS RAF1
42
Show member pathways
12.5 AKT1 HRAS PTPN11 RAF1
43
Show member pathways
12.45 AKT1 BRAF HRAS RAF1
44
Show member pathways
12.45 AKT1 HRAS PTPN11 RAF1
45
Show member pathways
12.44 AKT1 GAB1 HRAS PTPN11 RAF1
46
Show member pathways
12.43 AKT1 BRAF GAB1 HRAS RAF1
47
Show member pathways
12.4 AKT1 HRAS RAF1
48
Show member pathways
12.4 AKT1 BRAF HRAS RAF1
49
Show member pathways
12.4 AKT1 GAB1 HRAS PTPN11 RAF1
50
Show member pathways
12.39 AKT1 GAB1 PTPN11

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 cytosol GO:0005829 9.23 AKT1 BRAF CDKN3 GAB1 HRAS NF1

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.73 NF1 PTPN11 RAF1
2 negative regulation of cell proliferation GO:0008285 9.71 CDKN3 HRAS NF1 RAF1
3 axon guidance GO:0007411 9.69 GAB1 HRAS PTPN11
4 positive regulation of protein phosphorylation GO:0001934 9.65 AKT1 HRAS RAF1
5 cell proliferation GO:0008283 9.62 AKT1 GAB1 HRAS RAF1
6 visual learning GO:0008542 9.6 BRAF NF1
7 thymus development GO:0048538 9.59 BRAF RAF1
8 cellular response to epidermal growth factor stimulus GO:0071364 9.58 AKT1 PTPN11
9 cellular response to nerve growth factor stimulus GO:1990090 9.58 AKT1 BRAF
10 ERBB2 signaling pathway GO:0038128 9.57 GAB1 HRAS
11 spinal cord development GO:0021510 9.55 AKT1 NF1
12 phosphatidylinositol 3-kinase signaling GO:0014065 9.54 AKT1 NF1
13 platelet activation GO:0030168 9.54 AKT1 PTPN11 RAF1
14 thyroid gland development GO:0030878 9.52 BRAF RAF1
15 regulation of long-term neuronal synaptic plasticity GO:0048169 9.49 HRAS NF1
16 face development GO:0060324 9.46 BRAF RAF1
17 MAPK cascade GO:0000165 9.46 BRAF HRAS NF1 RAF1
18 neurotrophin TRK receptor signaling pathway GO:0048011 9.43 PTPN11 RAF1
19 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.43 AKT1 BRAF RAF1
20 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.26 BRAF HRAS PTPN11 RAF1
21 epidermal growth factor receptor signaling pathway GO:0007173 8.92 AKT1 GAB1 HRAS PTPN11

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

# Name GO ID Score Top Affiliating Genes
1 1-phosphatidylinositol-3-kinase activity GO:0016303 9.26 GAB1 PTPN11
2 obsolete signal transducer activity, downstream of receptor GO:0005057 9.16 BRAF RAF1
3 Ras GTPase binding GO:0017016 8.96 BRAF RAF1
4 nucleotide binding GO:0000166 8.92 AKT1 BRAF HRAS RAF1

Sources for Leopard Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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