MCID: LPR002
MIFTS: 53

Leopard Syndrome malady

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

Aliases & Classifications for Leopard Syndrome

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Aliases & Descriptions for Leopard Syndrome:

Name: Leopard Syndrome 11 46 23 13 48 37 66
Multiple Lentigines Syndrome 11 46 23
Cardiomyopathic Lentiginosis 46 23
Lentigines, Electrocardiographic Conduction Abnormalities, Ocular Hypertelorism, Pulmonic Stenosis, Abnormal Genitalia, Retardation of Growth, Deafnes 46
Capute-Rimoin-Konigsmark-Esterly-Richardson Syndrome 11
Alopecia Epilepsy Oligophrenia Syndrome of Moynahan 66
Progressive Cardiomyopathic Lentiginosis Syndrome 66
Progressive Cardiomyopathic Lentiginosis 11
 
Noonan Syndrome with Multiple Lentigines 46
Lentiginosis Profusa Syndrome 11
Cardiocutaneous Syndrome 11
Generalized Lentiginosis 11
Lentiginosis Profusa 66
Gorlin Syndrome Ii 11
Moynahan Syndrome 11

Classifications:



External Ids:

Disease Ontology11 DOID:14291
MeSH37 D044542
SNOMED-CT60 111306001
NCIt43 C84820

Summaries for Leopard Syndrome

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NIH Rare Diseases:46 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 2, and has symptoms including sense of smell impaired and seizures. An important gene associated with Leopard Syndrome is RAF1 (Raf-1 Proto-Oncogene, Serine/Threonine Kinase), and among its related pathways are G-protein signaling TC21 regulation pathway and Interleukin-11 Signaling Pathway. Affiliated tissues include skin, heart and eye, and related mouse phenotypes are hearing/vestibular/ear and adipose tissue.

Related Diseases for Leopard Syndrome

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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 65)
idRelated DiseaseScoreTop Affiliating Genes
1leopard syndrome 132.6BRAF, MAP2K1, NF1, PTPN11, RAF1
2leopard syndrome 212.1
3leopard syndrome 312.1
4ptpn11-related leopard syndrome11.9
5raf1-related leopard syndrome11.9
6braf-related leopard syndrome11.9
7noonan syndrome with multiple lentigines11.5
8lentiginosis, inherited patterned11.1
9pleomorphic xanthoastrocytoma10.5BRAF, NF1
10growth hormone insensitivity with immunodeficiency10.4NF1, PTPN11
11gliofibroma10.4BRAF, NF1
12otof-related deafness10.3BRAF, PTPN11, RAF1
13pterygium colli mental retardation digital anomalies10.3BRAF, PTPN11, RAF1
14rad51c-related fanconi anemia10.3BRAF, PTPN11, RAF1
15cardiomyopathy10.2
16hypertrophic cardiomyopathy10.2
17cervical adenoid basal carcinoma10.2PTPN11, SPRED1
18atypical neurofibroma10.1NF1, SPRED1
19neonatal stroke10.0NF1, PTPN11, SPRED1
20leukemia, acute myelomonocytic, somatic, somatic10.0NF1, PTPN11, SPRED1
21granular cell tumor10.0
22neurofibromatosis10.0
23interstitial nephritis, karyomegalic10.0NF1, SPRED1
24pancreatic serous cystadenocarcinoma10.0PTPN11, SPRED1
25noonan syndrome 19.9
26cardiomyopathy, dilated, with woolly hair and keratoderma9.9
27arrhythmogenic right ventricular dysplasia 19.9
28keratosis palmoplantaris striata i, ad9.9
29giant cell glioblastoma9.9AKT1, NF1, PTPN11
30lung cancer susceptibility 29.9AKT1, PIK3R1, PTPN11
31neurofibromatosis, type 19.8
32leukemia9.8
33melanoma9.8
34cowden syndrome 69.7AKT1, CDKN3
35schizencephaly9.7
36obesity9.7
37wolff-parkinson-white syndrome9.7
38neurofibromatosis-noonan syndrome9.7
39steatocystoma multiplex9.7
40pulmonary hypertension9.7
41infective endocarditis9.7
42autism spectrum disorder9.7
43cardiac arrest9.7
44endocarditis9.7
45lymphoblastic leukemia9.7
46respiratory failure9.7
47heart disease9.7
48lipomatosis9.7
49cerebritis9.7
50axonal neuropathy9.7

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



Diseases related to leopard syndrome

Symptoms for Leopard Syndrome

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UMLS symptoms related to Leopard Syndrome:


sense of smell impaired, seizures

Drugs & Therapeutics for Leopard Syndrome

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1interferonsPhase 32112
2
ImiquimodPhase 313599011-02-657469
Synonyms:
1-(2-Methylpropyl)-1H-imidazole[4,5-c]quinoline-4-amine
1-(2-methylpropyl)-1H-imidazo[4,5-c]quinolin-4-amine
1-(2-methylpropyl)imidazo[4,5-c]quinolin-4-amine
1-Isobutyl-1H-imidazo[4,5-c]quinolin-4-amine
1-isobutyl-1H-imidazo(4,5-c)quinolin-4-amine
1-isobutyl-1H-imidazo[4,5-c]quinolin-4-amine
3M Brand of Imiquimod
4-Amino-1-isobutyl-1H-imidazo(4,5-c)quinoline
4-Amino-1-isobutyl-1H-imidazo[4,5-c]quinoline
99011-02-6
AC-529
AC1L1N2I
AC1Q4YO9
Aldara
Aldara (TN)
Aldara, Imiquimod
BB_SC-2107
BIDD:GT0859
Beselna
C056493
CHEBI:36704
CHEMBL1282
CID57469
D02500
DB00724
DZ-2636
FT-0080222
HMS2090M14
 
I06-0624
I06-2289
I0747
I5159_SIGMA
IMIQUIMOD
Imiquimod
Imiquimod (JAN/USAN/INN)
Imiquimod [USAN:INN]
Imiquimod acetate
Imiquimodum
LS-178395
MLS000083577
MTD-39
MolPort-002-507-845
NCGC00070736-02
NSC369100
R 837
R-837
S 26308
S-26308
S1211_Selleck
SMR000048307
STK583860
TL8006059
TMX-101
UNII-P1QW714R7M
ZINC19632912
Zartra
Zyclara
imiquimod
3
FluorouracilPhase 3172851-21-83385
Synonyms:
1-fluoro-1h-pyrimidine-2,4-dione
1004-03-1
1upf
2,4-Dihydroxy-5-fluoropyrimidine
2,4-Dioxo-5-fluoropryimidine
2,4-Dioxo-5-fluoropyrimidine
47576_FLUKA
4921-97-5
5 FU Lederle
5 FU medac
5 Fluorouracil
5 Fluorouracil biosyn
5 HU Hexal
5-FU
5-FU (TN)
5-FU Lederle
5-FU medac
5-Faracil
5-Fluor-2,4(1H,3H)-pyrimidindion
5-Fluor-2,4(1H,3H)-pyrimidindion [Czech]
5-Fluor-2,4-dihydroxypyrimidin
5-Fluor-2,4-dihydroxypyrimidin [Czech]
5-Fluor-2,4-pyrimidindiol
5-Fluor-2,4-pyrimidindiol [Czech]
5-Fluoracil
5-Fluoracil [German]
5-Fluoracyl
5-Fluoro-2,4(1H,3H)-pyrimidinedione
5-Fluoro-2,4-pyrimidinedione
5-Fluoropyrimidin-2,4-diol
5-Fluoropyrimidine-2,4-dione
5-Fluorouracil
5-Fluorouracil-biosyn
5-Fluoruracil
5-Fluoruracil [German]
5-Fluracil
5-Ftouracyl
5-HU Hexal
5-fluoro uracil
5-fluoro-1H-pyrimidine-2,4-dione
5-fluoropyrimidine-2,4(1H,3H)-dione
5-fluorouracil
51-21-8
5FU
79108-01-3
AC-11201
AC1L1FTE
AC1Q4N2X
AI3-25297
AKOS000119162
AKOS003237897
AccuSite
Actino-Hermal
Adrucil
Adrucil (TN)
Allergan Brand of Fluorouracil
Arumel
BB_NC-0576
BSPBio_002048
C07649
C4H3FN2O2
CCRIS 2582
CHEBI:46345
CHEMBL185
CID3385
CPD0-1327
CPD000038082
CSP Brand of Fluorouracil
Carac
Carac (TN)
Carzonal
Cinco FU
Cytosafe
D005472
D00584
DB00544
Dakota Brand of Fluorouracil
Dakota, Fluorouracile
Dermatech Brand of Fluorouracil
Dermik Brand of Fluorouracil
DivK1c_000054
EINECS 200-085-6
EU-0100536
Effluderm
Effluderm (free base)
Efudex
Efudix
Efurix
F 6627
F0151
F6627_SIGMA
F8423_SIGMA
FT-0082524
FU
Ferrer Brand of Fluorouracil
Fiverocil
Fluoro Uracil
Fluoro Uracile ICN
Fluoro-Uracile ICN
Fluoro-uracile
Fluoro-uracilo
Fluoroblastin
Fluoroplex
Fluoroplex (TN)
Fluorouracil
Fluorouracil (JP15/USP/INN)
Fluorouracil GRY
Fluorouracil Mononitrate
Fluorouracil Monopotassium Salt
Fluorouracil Monosodium Salt
Fluorouracil Potassium Salt
Fluorouracil Teva Brand
Fluorouracil [USAN:INN:BAN:JAN]
 
Fluorouracil-GRY
Fluorouracile
Fluorouracile Dakota
Fluorouracile [DCIT]
Fluorouracilo
Fluorouracilo Ferrer Far
Fluorouracilo [INN-Spanish]
Fluorouracilum
Fluorouracilum [INN-Latin]
Fluoruracil
Fluouracil
Flurablastin
Fluracedyl
Fluracil
Fluracilum
Fluri
Fluril
Fluro Uracil
Fluroblastin
Flurodex
Flurouracil
Flurox
Ftoruracil
Gry Brand of Fluorouracil
HMS1920O18
HMS2090I04
HMS2091F19
HMS500C16
HSDB 3228
Haemato Brand of Fluorouracil
Haemato fu
Haemato-fu
Hexal Brand of Fluorouracil
I07-0022
ICN Brand of Fluorouracil
IDI1_000054
IN1335
KBio1_000054
KBio2_001321
KBio2_003889
KBio2_006457
KBio3_001268
KBioGR_001253
KBioSS_001321
Kecimeton
LS-153
Lopac-F-6627
Lopac0_000536
MLS000069498
MLS002415705
MolPort-000-156-102
MolPort-003-990-447
MolPort-004-758-143
MolPort-004-758-144
MolPort-005-861-486
NCGC00015442-01
NCGC00015442-03
NCGC00015442-10
NCGC00091349-01
NCGC00091349-02
NCGC00091349-03
NCGC00091349-04
NCGC00091349-05
NCGC00091349-07
NCGC00091349-08
NCI60_001652
NINDS_000054
NSC 19893
NSC-19893
NSC19893
Neocorp Brand of Fluorouracil
Neofluor
Onkofluor
Onkoworks Brand of Fluorouracil
Phthoruracil
Phtoruracil
Queroplex
Ribofluor
Riemser Brand of Fluorouracil
Ro 2-9757
Ro-2-9757
Roche Brand of Fluorouracil
S1209_Selleck
SAM002264615
SMR000038082
SPBio_000291
SPECTRUM1500305
STK297802
Spectrum2_000076
Spectrum3_000434
Spectrum4_000557
Spectrum5_000718
Spectrum_000841
T5233394
TL8006093
Teva Brand of Fluorouracil
Timazin
U 8953
U-8953
UNII-U3P01618RT
UPCMLD-DP130
UPCMLD-DP130:001
URF
Ulup
WLN: T6MVMVJ EF
ZINC00897110
biosyn Brand of Fluorouracil
fluorouracil
inhibits thymilidate synthetase
medac Brand of Fluorouracil
nchembio.90-comp3
nchembio809-comp6
ribosepharm Brand of Fluorouracil
tetratogen
4
MaravirocPhase 1139376348-65-13002977
Synonyms:
376348-65-1
4,4-Difluoro-N-((1S)-3-(exo-3-(3-isopropyl-5-methyl-4H-1,2,4-triazol-4-yl)-8-azabicyclo(3.2.1)oct-8-yl)-1-phenylpropyl)cyclohexanecarboxamide
4,4-difluoro-N-[(1S)-3-[(1R,5S)-3-(3-methyl-5-propan-2-yl-1,2,4-triazol-4-yl)-8-azabicyclo[3.2.1]octan-8-yl]-1-phenylpropyl]cyclohexane-1-carboxamide
674782-29-7
AC-558
AC1MHEFQ
CHEBI:537583
CHEMBL1201187
CHEMBL256907
CID3002977
Celsentri
Celsentri(TM)
DB04835
Isopropyl, 4,4-difluoro-N-((1S)-3-{(1R,3s,5S)-3-(3-methyl-5-(propan-2-yl)-4H-1,2,4-triazol-4-yl)-8-azabicyclo(3.2.1)octan-8-yl}-1-phenylpropyl)cyclohexanecarboxamide
 
LS-182818
MVC
Maraviroc
Maraviroc [USAN]
PRO 140 & Maraviroc
PRO 140 (Anti-CCR5 monoclonal antibody) & exo-4,4-Difluoro-N-[3-[3-(3-isopropyl-5-methyl-4H-1,2,4-triazol-4-yl)-8-azabicyclo[3.2.1]oct-8-yl]-1(S)-phenylpropyl]cyclohexanecarboxamide
Selzentry
Selzentry(TM)
UK 427857
UK-427,857
UK-427,857 maraviroc (MVC)
UK-427857
UNII-MD6P741W8A
exo-4,4-Difluoro-N-[3-[3-(3-isopropyl-5-methyl-4H-1,2,4-triazol-4-yl)-8-azabicyclo[3.2.1]oct-8-yl]-1(S)-phenylpropyl]cyclohexanecarboxamide
maraviroc

Interventional clinical trials:

idNameStatusNCT IDPhase
1Topical or Ablative Treatment in Preventing Anal Cancer in Patients With HIV and Anal High-Grade Squamous Intraepithelial LesionsRecruitingNCT02135419Phase 3
2Safety and Pharmacokinetics of Dapivirine/Maraviroc Vaginal RingCompletedNCT01363037Phase 1
3Collection of Samples From HIV-1 Infected Individuals for Evaluation of the Aptima HIV-1 AssayActive, not recruitingNCT02026752
4Hormonal Sensitivity in Patients With Noonan and LEOPARD SyndromesNot yet recruitingNCT02486731

Search NIH Clinical Center for Leopard Syndrome


Cochrane evidence based reviews: leopard syndrome

Genetic Tests for Leopard Syndrome

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Genetic tests related to Leopard Syndrome:

id Genetic test Affiliating Genes
1 Leopard Syndrome23 RAF1

Anatomical Context for Leopard Syndrome

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MalaCards organs/tissues related to Leopard Syndrome:

34
Skin, Heart, Eye

Animal Models for Leopard Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Leopard Syndrome:

39 (show all 28)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.6BRAF, MAP2K1, NF1, PTPN11, RAF1
2MP:00053758.9AKT1, BRAF, CDC73, PIK3R1, PTPN11
3MP:00053918.8BRAF, GAB1, MAP2K1, NF1, PTPN11, RAF1
4MP:00020068.5AKT1, BRAF, MAP2K1, NF1, PIK3R1, PTPN11
5MP:00107718.3AKT1, BRAF, CDC73, GAB1, MAP2K1, NF1
6MP:00053818.3BRAF, CDC73, GAB1, GSK3B, MAP2K1, NF1
7MP:00053808.2AKT1, BRAF, CDC73, GAB1, MAP2K1, NF1
8MP:00053908.2AKT1, BRAF, GSK3B, MAP2K1, NF1, PTPN11
9MP:00053888.1AKT1, BRAF, CDC73, NF1, PTPN11, RAF1
10MP:00053698.0AKT1, BRAF, CDC73, GAB1, NF1, PIK3R1
11MP:00053797.8AKT1, BRAF, CDC73, GSK3B, MAP2K1, NF1
12MP:00053827.8BRAF, GAB1, GSK3B, MAP2K1, NF1, PTPN11
13MP:00028737.8AKT1, BRAF, GSK3B, MAP2K1, NF1, PIK3R1
14MP:00053847.7AKT1, BRAF, CDC73, GAB1, MAP2K1, NF1
15MP:00053707.6AKT1, BRAF, CDC73, GAB1, GSK3B, NF1
16MP:00053977.5AKT1, BRAF, CDC73, NF1, PIK3R1, PTPN11
17MP:00053867.2AKT1, BRAF, CDC73, GAB1, GSK3B, NF1
18MP:00053877.1AKT1, BRAF, CDC73, GSK3B, NF1, PIK3R1
19MP:00036317.0AKT1, BRAF, CDC73, GSK3B, MAP2K1, NF1
20MP:00107687.0AKT1, BRAF, CDC73, GAB1, GSK3B, MAP2K1
21MP:00053856.9AKT1, BRAF, CDC73, GAB1, GSK3B, MAP2K1
22MP:00053766.9AKT1, BRAF, CDC73, GAB1, GSK3B, MAP2K1
23MP:00053786.1AKT1, BRAF, CDC73, GAB1, GSK3B, MAP2K1

Publications for Leopard Syndrome

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Articles related to Leopard Syndrome:

(show top 50)    (show all 146)
idTitleAuthorsYear
1
LEOPARD syndrome: you could be the first one to diagnose! (25572376)
2015
2
LEOPARD Syndrome with Patent Ductus Arteriosus and Hypertrophic Cardiomyopathy. (26591153)
2015
3
Phenotypical diversity of patients with LEOPARD syndrome carrying the worldwide recurrent p.Tyr279Cys PTPN11 mutation. (26377839)
2015
4
LEOPARD syndrome: maxillofacial care. (24705231)
2014
5
Noonan and LEOPARD syndrome Shp2 variants induce heart displacement defects in zebrafish. (24718990)
2014
6
LEOPARD Syndrome Without Hearing Loss or Pulmonary Stenosis: A Report of 2 Cases. (25544017)
2014
7
LEOPARD syndrome-associated SHP2 mutation confers leanness and protection from diet-induced obesity. (25288766)
2014
8
Syndromic Hearing Loss in Association with PTPN11-Related Disorder: The Experience of Cochlear Implantation in a Child with LEOPARD Syndrome. (23799168)
2013
9
Structural and mechanistic insights into LEOPARD syndrome-associated SHP2 mutations. (23457302)
2013
10
LEOPARD syndrome: a variant of Noonan syndrome strongly associated with hypertrophic cardiomyopathy. (24775816)
2013
11
RASopathies: From Noonan to LEOPARD Syndrome. (23830833)
2013
12
LEOPARD syndrome with rare skeletal anomalies: A case report. (24082226)
2013
13
LEOPARD Syndrome Caused by Tyr279Cys Mutation in the PTPN11 Gene. (22822385)
2012
14
Implantable cardioverter defibrillator for progressive hypertrophic cardiomyopathy in a patient with LEOPARD syndrome and a novel PTPN11 mutation Gln510His. (21910226)
2011
15
LEOPARD syndrome in an infant with severe hypertrophic cardiomyopathy and PTPN11 mutation. (21677813)
2011
16
Coronary artery dilation in LEOPARD syndrome: surveillance with low radiation dose cardiac CT. (20801861)
2010
17
Leopard syndrome and Chiari type I malformation: a case report and review of the literature. (19131856)
2009
18
IMAGE CARDIO MED. A patient with LEOPARD syndrome and PTPN11 mutation. (19273734)
2009
19
Visual function in Noonan and LEOPARD syndrome. (19568997)
2008
20
Common acute lymphoblastic leukemia in a girl with genetically confirmed LEOPARD syndrome. (18799937)
2008
21
Severe, early onset hypertrophic cardiomyopathy in a family with LEOPARD syndrome. (22439023)
2008
22
Malignant melanoma in a woman with LEOPARD syndrome: identification of a germline PTPN11 mutation and a somatic BRAF mutation. (17927788)
2007
23
A novel PTPN11 gene mutation in a patient with LEOPARD Syndrome. (17875892)
2007
24
Acute myelomonocytic leukemia in a boy with LEOPARD syndrome (PTPN11 gene mutation positive). (16679933)
2006
25
Diffuse coronary dilation in a young patient with LEOPARD syndrome. (16904216)
2006
26
PTPN11 mutations and genotype-phenotype correlations in Noonan and LEOPARD syndromes. (16208280)
2005
27
LEOPARD syndrome: cardiac imaging findings. (15728011)
2005
28
Familial aggregation of genetically heterogeneous hypertrophic cardiomyopathy: a boy with LEOPARD syndrome due to PTPN11 mutation and his nonsyndromic father lacking PTPN11 mutations. (14991917)
2004
29
Two novel and one recurrent PTPN11 mutations in LEOPARD syndrome. (15389709)
2004
30
Intense pulsed light for the treatment of lentigines in LEOPARD syndrome. (12946381)
2003
31
LEOPARD syndrome with a new association of congenital corneal tumor, choristoma. (12657016)
2003
32
PTPN11 mutations in LEOPARD syndrome. (12161596)
2002
33
Leopard syndrome. (11599630)
2001
34
The dental management of a child with LEOPARD syndrome. (11310102)
2000
35
Leopard syndrome--report of a variant case. (10863481)
1999
36
Partial agenesis of corpus callosum in LEOPARD syndrome. (10583620)
1999
37
Leopard syndrome associated with hyperelastic skin: analysis of collagen metabolism in cultured skin fibroblasts. (10449938)
1999
38
An intriguing case of LEOPARD syndrome. (9572697)
1998
39
LEOPARD syndrome in a patient with morphea and acro-osteolysis. (9677256)
1998
40
Familial occurrence of the LEOPARD syndrome. (9522241)
1998
41
Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis). (9222968)
1997
42
LEOPARD syndrome associated with steatocystoma multiplex and hyperelastic skin. Report of a Japanese case. (8578962)
1995
43
Accumulation of membrane-bound melanosomes occurs in Langerhans cells of patients with the Leopard syndrome. (1424250)
1992
44
Spotting heart disease: Leopard syndrome. (3665613)
1987
45
Dermal Merkel cells in the nevus of Ota and leopard syndrome. (6480925)
1984
46
A study of a family with leopard syndrome. (7061405)
1982
47
Primary pulmonary hypertension in leopard syndrome. (7295444)
1981
48
Leopard syndrome with manic psychosis. (7443958)
1980
49
Leopard syndrome. (6088)
1975
50
Generalized lentigines associated with multiple congenital defects (leopard syndrome). (5433909)
1970

Variations for Leopard Syndrome

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Clinvar genetic disease variations for Leopard Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1PTPN11NM_002834.3(PTPN11): c.1403C> T (p.Thr468Met)single nucleotide variantLikely pathogenic, Pathogenicrs121918457GRCh37Chr 12, 112926270: 112926270
2PTPN11NM_002834.3(PTPN11): c.1381G> A (p.Ala461Thr)single nucleotide variantPathogenicrs121918468GRCh37Chr 12, 112926248: 112926248
3RAF1NM_002880.3(RAF1): c.770C> T (p.Ser257Leu)single nucleotide variantPathogenicrs80338796GRCh37Chr 3, 12645699: 12645699
4RAF1NM_002880.3(RAF1): c.1837C> G (p.Leu613Val)single nucleotide variantPathogenicrs80338797GRCh37Chr 3, 12626123: 12626123
5RAF1NM_002880.3(RAF1): c.1456G> A (p.Asp486Asn)single nucleotide variantPathogenicrs80338798GRCh37Chr 3, 12627260: 12627260
6RAF1NM_002880.3(RAF1): c.1472C> T (p.Thr491Ile)single nucleotide variantPathogenicrs80338799GRCh37Chr 3, 12627244: 12627244
7BRAFNM_004333.4(BRAF): c.721A> C (p.Thr241Pro)single nucleotide variantLikely pathogenic, Pathogenicrs387906661GRCh37Chr 7, 140501351: 140501351
8BRAFNM_004333.4(BRAF): c.735A> T (p.Leu245Phe)single nucleotide variantLikely pathogenic, Pathogenicrs397507466GRCh37Chr 7, 140501337: 140501337
9PTPN11NM_002834.3(PTPN11): c.1381G> T (p.Ala461Ser)single nucleotide variantPathogenicrs121918468GRCh37Chr 12, 112926248: 112926248
10PTPN11NM_002834.3(PTPN11): c.1517A> C (p.Gln506Pro)single nucleotide variantPathogenicrs397507548GRCh37Chr 12, 112926897: 112926897

Expression for genes affiliated with Leopard Syndrome

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Search GEO for disease gene expression data for Leopard Syndrome.

Pathways for genes affiliated with Leopard Syndrome

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

(show top 50)    (show all 181)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.2BRAF, MAP2K1, NF1, RAF1
29.0AKT1, PIK3R1, PTPN11, RAF1
39.0AKT1, PIK3R1, PTPN11, RAF1
48.9AKT1, MAP2K1, PIK3R1, RAF1
58.9AKT1, MAP2K1, PIK3R1, RAF1
6
Show member pathways
8.6AKT1, MAP2K1, PIK3R1, PTPN11, RAF1
7
Show member pathways
8.6AKT1, MAP2K1, PIK3R1, PTPN11, RAF1
88.6AKT1, GAB1, GSK3B, PIK3R1
9
Show member pathways
8.6AKT1, BRAF, MAP2K1, PIK3R1, RAF1
108.6AKT1, BRAF, MAP2K1, PIK3R1, RAF1
118.6AKT1, BRAF, MAP2K1, PIK3R1, RAF1
12
Show member pathways
8.6AKT1, BRAF, MAP2K1, PIK3R1, RAF1
138.6AKT1, BRAF, GSK3B, MAP2K1, RAF1
14
Show member pathways
8.6AKT1, GAB1, MAP2K1, PIK3R1, RAF1
158.5AKT1, GSK3B, PIK3R1, PTPN11, RAF1
168.5AKT1, BRAF, GSK3B, PIK3R1, RAF1
178.4AKT1, GSK3B, MAP2K1, PIK3R1, RAF1
188.4AKT1, GSK3B, MAP2K1, PIK3R1, RAF1
198.4AKT1, GSK3B, MAP2K1, PIK3R1, RAF1
20
Show member pathways
8.3AKT1, BRAF, MAP2K1, PIK3R1, PTPN11, RAF1
21
Show member pathways
8.3AKT1, BRAF, MAP2K1, PIK3R1, PTPN11, RAF1
22
Show member pathways
8.3AKT1, GAB1, MAP2K1, PIK3R1, PTPN11, RAF1
23
Show member pathways
8.3AKT1, GAB1, MAP2K1, PIK3R1, PTPN11, RAF1
24
Show member pathways
8.3AKT1, GAB1, MAP2K1, PIK3R1, PTPN11, RAF1
258.3AKT1, GAB1, MAP2K1, PIK3R1, PTPN11, RAF1
268.3AKT1, BRAF, GAB1, MAP2K1, PIK3R1, RAF1
27
Show member pathways
8.3AKT1, BRAF, GAB1, MAP2K1, PIK3R1, RAF1
28
Show member pathways
8.1AKT1, GSK3B, MAP2K1, PIK3R1, PTPN11, RAF1
298.1AKT1, GSK3B, MAP2K1, PIK3R1, PTPN11, RAF1
30
Show member pathways
8.1AKT1, BRAF, GSK3B, MAP2K1, PIK3R1, RAF1
31
Show member pathways
8.1AKT1, BRAF, GSK3B, MAP2K1, PIK3R1, RAF1
32
Show member pathways
8.1AKT1, BRAF, GSK3B, MAP2K1, PIK3R1, RAF1
33
Show member pathways
8.1AKT1, BRAF, GSK3B, MAP2K1, PIK3R1, RAF1
34
Show member pathways
8.0AKT1, GAB1, GSK3B, MAP2K1, PIK3R1, RAF1
358.0AKT1, BRAF, GAB1, MAP2K1, PIK3R1, PTPN11
36
Show member pathways
7.8AKT1, BRAF, GSK3B, MAP2K1, PIK3R1, PTPN11
377.8AKT1, BRAF, GSK3B, MAP2K1, NF1, PIK3R1
387.8AKT1, GAB1, GSK3B, MAP2K1, PIK3R1, PTPN11
397.8AKT1, GAB1, GSK3B, MAP2K1, PIK3R1, PTPN11
407.8AKT1, GAB1, GSK3B, MAP2K1, PIK3R1, PTPN11
41
Show member pathways
7.7AKT1, BRAF, GAB1, GSK3B, MAP2K1, PIK3R1
42
Show member pathways
7.7AKT1, BRAF, GAB1, GSK3B, MAP2K1, PIK3R1
43
Show member pathways
7.7AKT1, BRAF, GAB1, GSK3B, MAP2K1, PIK3R1
44
Show member pathways
7.7AKT1, BRAF, GAB1, MAP2K1, NF1, PIK3R1
45
Show member pathways
7.5AKT1, BRAF, GSK3B, MAP2K1, NF1, PIK3R1
46
Show member pathways
7.5AKT1, BRAF, GAB1, GSK3B, MAP2K1, PIK3R1
47
Show member pathways
7.5AKT1, BRAF, GAB1, GSK3B, MAP2K1, PIK3R1
48
Show member pathways
7.5AKT1, BRAF, GAB1, GSK3B, MAP2K1, PIK3R1
49
Show member pathways
7.4AKT1, BRAF, GAB1, GSK3B, MAP2K1, NF1
50
Show member pathways
6.9AKT1, GAB1, GSK3B, MAP2K1, PIK3R1, PTPN11

GO Terms for genes affiliated with Leopard Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1cytosolGO:00058296.5AKT1, BRAF, GAB1, GSK3B, MAP2K1, NF1
2nucleusGO:00056346.4AKT1, BRAF, CDC73, CDKN3, GSK3B, MAP2K1
3cytoplasmGO:00057374.9AKT1, BRAF, CDC73, CDKN3, GAB1, GSK3B

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

(show all 34)
idNameGO IDScoreTop Affiliating Genes
1Bergmann glial cell differentiationGO:006002010.5MAP2K1, PTPN11
2positive regulation of axonogenesisGO:005077210.5BRAF, MAP2K1
3regulation of axon regenerationGO:004867910.5BRAF, MAP2K1
4cerebellar cortex formationGO:002169710.4MAP2K1, PTPN11
5neurotrophin TRK receptor signaling pathwayGO:004801110.4PTPN11, RAF1
6labyrinthine layer developmentGO:006071110.3GAB1, MAP2K1
7cellular glucose homeostasisGO:000167810.3PIK3R1, RAF1
8positive regulation of glucose import in response to insulin stimulusGO:200127510.3PIK3R1, PTPN11
9phosphatidylinositol 3-kinase signalingGO:001406510.3NF1, PIK3R1
10negative regulation of cell-matrix adhesionGO:000195310.2NF1, PIK3R1
11response to insulin-like growth factor stimulusGO:199041810.2AKT1, GSK3B
12thyroid gland developmentGO:003087810.2BRAF, MAP2K1, RAF1
13negative regulation of osteoclast differentiationGO:004567110.1NF1, PIK3R1
14face developmentGO:006032410.1BRAF, MAP2K1, RAF1
15insulin-like growth factor receptor signaling pathwayGO:004800910.1AKT1, PIK3R1
16thymus developmentGO:004853810.1BRAF, MAP2K1, RAF1
17negative regulation of protein complex assemblyGO:003133310.1GSK3B, RAF1
18phosphatidylinositol-3-phosphate biosynthetic processGO:003609210.0GAB1, PIK3R1, PTPN11
19phosphatidylinositol phosphorylationGO:00468549.9GAB1, PIK3R1, PTPN11
20insulin receptor signaling pathwayGO:00082869.8AKT1, GAB1, PIK3R1
21epidermal growth factor receptor signaling pathwayGO:00071739.8GAB1, PIK3R1, PTPN11
22ERBB2 signaling pathwayGO:00381289.7AKT1, GAB1, PIK3R1
23regulation of neuron projection developmentGO:00109759.5AKT1, GSK3B
24regulation of phosphatidylinositol 3-kinase signalingGO:00140669.5AKT1, GAB1, PIK3R1, PTPN11
25T cell costimulationGO:00312959.4AKT1, PIK3R1, PTPN11
26phosphatidylinositol-mediated signalingGO:00480159.4AKT1, GAB1, PIK3R1, PTPN11
27platelet activationGO:00301689.4AKT1, PIK3R1, PTPN11, RAF1
28positive regulation of peptidyl-serine phosphorylationGO:00331389.2AKT1, BRAF, GSK3B, RAF1
29heart developmentGO:00075079.0GAB1, MAP2K1, NF1, PTPN11, RAF1
30MAPK cascadeGO:00001658.8BRAF, MAP2K1, NF1, RAF1, SPRED1
31negative regulation of apoptotic processGO:00430668.6AKT1, BRAF, GSK3B, PIK3R1, RAF1
32negative regulation of cell proliferationGO:00082858.4CDC73, CDKN3, MAP2K1, NF1, RAF1
33protein phosphorylationGO:00064688.3AKT1, BRAF, GSK3B, MAP2K1, PIK3R1, RAF1
34positive regulation of transcription from RNA polymerase II promoterGO:00459448.3AKT1, CDC73, GSK3B, PIK3R1, RAF1

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1MAP kinase kinase kinase activityGO:000470910.6BRAF, RAF1
2small GTPase bindingGO:003126710.6BRAF, RAF1
3mitogen-activated protein kinase kinase bindingGO:003143410.4BRAF, RAF1
4insulin receptor substrate bindingGO:004356010.4PIK3R1, PTPN11
51-phosphatidylinositol-3-kinase activityGO:001630310.0GAB1, PIK3R1, PTPN11
6phosphatidylinositol-4,5-bisphosphate 3-kinase activityGO:004693410.0GAB1, PIK3R1, PTPN11
7kinase activityGO:00163019.9AKT1, GSK3B, RAF1
8protein kinase activityGO:00046729.2AKT1, BRAF, GSK3B, MAP2K1, RAF1
9protein serine/threonine kinase activityGO:00046749.1AKT1, BRAF, GSK3B, MAP2K1, RAF1
10protein kinase bindingGO:00199018.7AKT1, GSK3B, MAP2K1, SPRED1
11protein bindingGO:00055155.2AKT1, BRAF, CDC73, CDKN3, GAB1, GSK3B

Sources for Leopard Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet