MCID: LPR002
MIFTS: 55

Leopard Syndrome malady

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

Aliases & Classifications for Leopard Syndrome

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Sources:
10Disease Ontology, 45NIH Rare Diseases, 22GeneTests, 47Novoseek, 12DISEASES, 36MeSH, 65UMLS, 51Orphanet, 42NCIt, 59SNOMED-CT, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Leopard Syndrome:

Name: Leopard Syndrome 10 45 22 47 12 36 65
Multiple Lentigines Syndrome 10 45 22
Cardiomyopathic Lentiginosis 45 22
Moynahan Syndrome 10 51
Lentigines, Electrocardiographic Conduction Abnormalities, Ocular Hypertelorism, Pulmonic Stenosis, Abnormal Genitalia, Retardation of Growth, Deafnes 45
Alopecia-Epilepsy-Oligophrenia Syndrome, Moynahan Type 51
Capute-Rimoin-Konigsmark-Esterly-Richardson Syndrome 10
Alopecia Epilepsy Oligophrenia Syndrome of Moynahan 65
 
Progressive Cardiomyopathic Lentiginosis Syndrome 65
Progressive Cardiomyopathic Lentiginosis 10
Lentiginosis Profusa Syndrome 10
Generalized Lentiginosis 10
Cardiocutaneous Syndrome 10
Lentiginosis Profusa 65
Gorlin Syndrome Ii 10

Classifications:



External Ids:

Disease Ontology10 DOID:14291
MeSH36 D044542
NCIt42 C84820
Orphanet51 2574
UMLS via Orphanet66 C0265328
UMLS65 C0175704, C0543816, C3492944 C0265328, more

Summaries for Leopard Syndrome

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NIH Rare Diseases:45 Leopard syndrome is an inherited condition characterized by abnormalities of the skin, heart, inner ears, and genitalia. the acronym leopard describes the characteristic features associated with this condition: (l)entigines (multiple 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 growth resulting in short stature; and (d)eafness or hearing loss. there are three types of leopard syndrome, which are distinguished by their underlying genetic cause. leopard syndrome 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. some cases are inherited from a parent in an autosomal dominant pattern. other times, leopard syndrome occurs in people without a family history of the condition due to a new gene mutation. last updated: 12/22/2015

MalaCards based summary: Leopard Syndrome, also known as multiple lentigines syndrome, is related to leopard syndrome 1 and renal cell carcinoma, and has symptoms including alopecia, intellectual deficit/mental/psychomotor retardation/learning disability and autosomal recessive inheritance. An important gene associated with Leopard Syndrome is RAF1 (Raf-1 Proto-Oncogene, Serine/Threonine Kinase), and among its related pathways are Immune response_Role of integrins in NK cells cytotoxicity and Immune response_IL-6 signaling pathway. Affiliated tissues include skin, heart and eye, and related mouse phenotypes are hearing/vestibular/ear and digestive/alimentary.

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 159)
idRelated DiseaseScoreTop Affiliating Genes
1leopard syndrome 132.0BRAF, GAB1, HRAS, MAP2K1, NF1, PTPN11
2renal cell carcinoma29.2AKT1, BRAF, MAP2K1, RAF1
3lung cancer28.3AKT1, BRAF, HRAS, MAP2K1, RAF1
4leopard syndrome 212.5
5leopard syndrome 312.5
6familial generalized lentiginosis12.5
7ptpn11-related leopard syndrome12.3
8raf1-related leopard syndrome12.3
9braf-related leopard syndrome12.3
10noonan syndrome with multiple lentigines11.8
11leukemia10.3
12esophagitis10.3
13pseudoachondroplastic dysplasia 210.3PTPN11, RAF1
14lymphoma10.3
15bulimia nervosa10.3
16stork bite10.2PTPN11, RAF1
17dengue hemorrhagic fever10.2PTPN11, RAF1
18colorectal cancer10.2
19prostate cancer10.2
20hepatocellular carcinoma10.2
21hepatitis10.2
22prostatitis10.2
23vaginitis10.2
24t-cell leukemia10.2
25endotheliitis10.2
26splenogonadal fusion limb defects micrognatia10.2BRAF, HRAS
27watson syndrome10.1NF1, PTPN11
28pilocytic astrocytoma10.1BRAF, NF1
29melas syndrome10.1HRAS, RAF1
30diencephalic astrocytomas10.1BRAF, NF1
31nuclear gene-encoded leigh syndrome10.1BRAF, PTPN11, RAF1
32metachondromatosis10.1BRAF, PTPN11, RAF1
33rad21-related cornelia de lange syndrome10.1BRAF, PTPN11, RAF1
34neuromuscular disease10.1HRAS, MAP2K1
35cauda equina intradural extramedullary astrocytoma10.0NF1, PTPN11
36rheumatoid arthritis10.0
37neural tube defects10.0
38factor v deficiency10.0
39asthma10.0
40breast cancer10.0
41esophageal cancer10.0
42huntington disease10.0
43alcohol dependence10.0
44osteoporosis10.0
45polycystic liver disease10.0
46wolff-parkinson-white syndrome10.0
47multiple myeloma10.0
48retinoblastoma10.0
49angelman syndrome10.0
50huntington disease-like 210.0

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



Diseases related to leopard syndrome

Symptoms for Leopard Syndrome

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Symptoms:

 51 (show all 11)
  • alopecia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • autosomal recessive inheritance
  • microcephaly
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • late puberty/hypogonadism/hypogenitalism
  • seizures/epilepsy/absences/spasms/status epilepticus
  • wasted (excluding lipodystrophy)/poorly muscled build/cachexy
  • short stature/dwarfism/nanism
  • sensorineural deafness/hearing loss
  • hyperkeratosis/ainhum/hyperkeratotic skin fissures

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
1
Maravirocapproved, investigationalPhase 1135376348-65-13002977
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
2Antiviral AgentsPhase 18071
3Anti-Retroviral AgentsPhase 12794
4Anti-Infective AgentsPhase 117220

Interventional clinical trials:

idNameStatusNCT IDPhase
1Safety and Pharmacokinetics of Dapivirine/Maraviroc Vaginal RingCompletedNCT01363037Phase 1
2Collection of Samples From HIV-1 Infected Individuals for Evaluation of the Aptima HIV-1 AssayActive, not recruitingNCT02026752
3Hormonal 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 Syndrome22 RAF1

Anatomical Context for Leopard Syndrome

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MalaCards organs/tissues related to Leopard Syndrome:

33
Skin, Heart, Eye, Lung, Breast, Brain, Kidney

Animal Models for Leopard Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Leopard Syndrome:

38 (show all 25)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.7BRAF, MAP2K1, NF1, PTPN11, RAF1
2MP:00053818.5BRAF, GAB1, MAP2K1, NF1, PTPN11
3MP:00053918.2BRAF, GAB1, MAP2K1, NF1, PTPN11, RAF1
4MP:00053888.0AKT1, BRAF, HRAS, NF1, PTPN11, RAF1
5MP:00053707.9AKT1, BRAF, GAB1, NF1, PTPN11, RAF1
6MP:00053697.8AKT1, BRAF, GAB1, NF1, PTPN11, RAF1
7MP:00053827.6BRAF, GAB1, HRAS, MAP2K1, NF1, PTPN11
8MP:00053797.6AKT1, BRAF, HRAS, MAP2K1, NF1, PTPN11
9MP:00020067.6AKT1, BRAF, HRAS, MAP2K1, NF1, PTPN11
10MP:00028737.5AKT1, BRAF, HRAS, MAP2K1, NF1, PTPN11
11MP:00053807.5AKT1, BRAF, GAB1, MAP2K1, NF1, PTPN11
12MP:00036317.5AKT1, BRAF, HRAS, MAP2K1, NF1, PTPN11
13MP:00053847.3AKT1, BRAF, GAB1, MAP2K1, NF1, PTPN11
14MP:00053907.2AKT1, BRAF, HRAS, MAP2K1, NF1, PTPN11
15MP:00107716.9AKT1, BRAF, GAB1, HRAS, MAP2K1, NF1
16MP:00053766.8AKT1, BRAF, GAB1, HRAS, MAP2K1, NF1
17MP:00107686.7AKT1, BRAF, GAB1, HRAS, MAP2K1, NF1
18MP:00053786.7AKT1, BRAF, GAB1, HRAS, MAP2K1, NF1
19MP:00053856.7AKT1, BRAF, GAB1, HRAS, MAP2K1, NF1

Publications for Leopard Syndrome

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Articles related to Leopard Syndrome:

(show top 50)    (show all 140)
idTitleAuthorsYear
1
Advanced heart failure due to endomyocardial fibroelastosis. (26434809)
2015
2
Mycobacterium Bovis Abdominal Tuberculosis in a Young Child. (26132823)
2015
3
Video capsule endoscopy in familial adenomatous polyposis: capsule entrapment in an anal stenosis. (25409054)
2014
4
Targeting PCSK9 for Hypercholesterolemia. (24160703)
2014
5
miR-10b promotes migration and invasion in nasopharyngeal carcinoma cells. (24175854)
2013
6
Multiple bone metastases from glioblastoma multiforme without local brain relapse: a case report and review of the literature. (24362877)
2013
7
Downregulation of tumor suppressor gene PML in uterine cervical carcinogenesis: impact of human papillomavirus infection (HPV). (23220564)
2013
8
Sacral osteomyelitis: an unusual complication from foreign body ingestion. (22472414)
2012
9
In vitro evolution of an HIV integrase binding protein from a library of C-terminal domain I^S-crystallin variants. (22858140)
2012
10
Severe acute disseminated encephalomyelitis: a paediatric intensive care population-based study. (20876155)
2011
11
TRIM proteins and cancer. (21979307)
2011
12
Evaluation of serum levels of C-reactive protein and lipid profiles in patients with chronic periodontitis and/or coronary heart disease in an ethnic Han population. (20213025)
2010
13
Everolimus (RAD001) in the treatment of advanced renal cell carcinoma: a review. (20215359)
2010
14
NR5A1/SF-1 and development and function of the ovary. (20394914)
2010
15
Pigment epithelium-derived factor gene therapy inhibits the growth of transplanted human hepatocellular carcinoma in nude mice]. (19497203)
2009
16
Nonarteritic anterior ischemic optic neuropathy associated with chronic anemia: a case series of myelodysplastic syndrome patients. (19668557)
2009
17
Development of a novel peptide microarray for large-scale epitope mapping of food allergens. (19577281)
2009
18
Essential fatty acids and their metabolites could function as endogenous HMG-CoA reductase and ACE enzyme inhibitors, anti-arrhythmic, anti-hypertensive, anti-atherosclerotic, anti-inflammatory, cytoprotective, and cardioprotective molecules. (18922179)
2008
19
Different methylation of the TNF-alpha promoter in cortex and substantia nigra: Implications for selective neuronal vulnerability. (18930140)
2008
20
Long-term effects of growth hormone replacement therapy on thyroid function in adults with growth hormone deficiency. (19012473)
2008
21
HA14-1, a small molecule Bcl-2 antagonist, induces apoptosis and modulates action of selected anticancer drugs in follicular lymphoma B cells. (16213584)
2006
22
Delivering PD-1 inhibitory signal concomitant with blocking ICOS co-stimulation suppresses lupus-like syndrome in autoimmune BXSB mice. (16386962)
2006
23
Fine needle aspiration cytology of primary thyroid lymphoma: a report of ten cases. (16336672)
2005
24
No association between common variations in the human alpha 2 subunit gene (ATP1A2) of the sodium-potassium-transporting ATPase and idiopathic generalized epilepsy. (15911117)
2005
25
Pharmaceutical aspects of hemoglobin-based oxygen carriers. (16305414)
2005
26
Reversible motor and sensory peripheral neuropathy in a patient following acute carbon monoxide intoxication. (15773259)
2005
27
Do risk factors for lactic acidosis influence dosing of metformin? (15482389)
2004
28
Phosphorylation of annexin I by TRPM7 channel-kinase. (15485879)
2004
29
Cytotoxicity, inhibition of DNA and protein syntheses and oxidative damage in cultured cells exposed to zearalenone. (15130604)
2004
30
Preeclamptic women are deficient of interleukin-10 as assessed by cytokine release of trophoblast cells in vitro. (12967647)
2003
31
Duodenal atresia with a deletion of midgut associated with left lung, kidney, and upper limb absences and right upper limb malformation. (14614732)
2003
32
Oral pristinamycin versus standard penicillin regimen to treat erysipelas in adults: randomised, non-inferiority, open trial. (12386036)
2002
33
Characterization of the binding of urokinase-type plasminogen activator to the asialoglycoprotein receptor. (12152683)
2002
34
Structure and dynamics of copper-free SOD: The protein before binding copper. (12237469)
2002
35
Characterization of mouse homolog of brain acyl-CoA hydrolase: molecular cloning and neuronal localization. (11834298)
2002
36
Glucuronidation of nonylphenol and octylphenol eliminates their ability to activate transcription via the estrogen receptor. (11603961)
2001
37
Nitric oxide-enhanced excitotoxicity-independent apoptosis of glucose-deprived neurons. (10401981)
1999
38
Reconstitutive refolding of diacylglycerol kinase, an integral membrane protein. (10587463)
1999
39
Effects of phosphoramidon, BQ 788, and BQ 123 on coronary and cardiac dysfunctions of the failing hamster heart. (9676715)
1998
40
Plasma endothelin-1 levels in non-insulin dependent diabetes mellitus patients with macrovascular disease. (9285177)
1997
41
Early cerebral proton MRS and neurodevelopmental outcome in infants with cystic leukomalacia. (9233361)
1997
42
A binding interface on the I domain of lymphocyte function-associated antigen-1 (LFA-1) required for specific interaction with intercellular adhesion molecule 1 (ICAM-1). (7642561)
1995
43
Eruptive skin tags and keratoacanthomas in a patient with prolactinoma and colonic polyposis. (8075462)
1994
44
Transforming growth factor-beta protein and mRNA in glomeruli in normal and diseased human kidneys. (8441250)
1993
45
A case of mosaic Down's syndrome concomitant with ganglioneuroma. (2524564)
1989
46
Endemic goiter in the Cauca Valley. 3. Role of serum TSH in goitrogenesis. (5547271)
1971
47
Hemophilic arthropathy in dogs. (13836046)
1959
48
49
50

Variations for Leopard Syndrome

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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 170)
idSuper pathwaysScoreTop Affiliating Genes
18.8HRAS, MAP2K1, PTPN11, RAF1
28.8HRAS, MAP2K1, PTPN11, RAF1
3
Show member pathways
8.8HRAS, MAP2K1, PTPN11, RAF1
4
Show member pathways
8.7BRAF, MAP2K1, NF1, RAF1
58.7BRAF, HRAS, MAP2K1, RAF1
6
Show member pathways
8.7BRAF, HRAS, MAP2K1, RAF1
78.7BRAF, HRAS, MAP2K1, RAF1
88.7BRAF, HRAS, MAP2K1, RAF1
98.7BRAF, HRAS, MAP2K1, RAF1
108.4AKT1, BRAF, MAP2K1, RAF1
118.4AKT1, HRAS, PTPN11, RAF1
128.4AKT1, HRAS, PTPN11, RAF1
138.4AKT1, BRAF, HRAS, RAF1
148.3AKT1, HRAS, MAP2K1, RAF1
158.3AKT1, HRAS, MAP2K1, RAF1
168.1AKT1, GAB1, HRAS, PTPN11
17
Show member pathways
8.0AKT1, HRAS, MAP2K1, PTPN11, RAF1
188.0AKT1, HRAS, MAP2K1, PTPN11, RAF1
19
Show member pathways
8.0AKT1, HRAS, MAP2K1, PTPN11, RAF1
20
Show member pathways
7.9AKT1, BRAF, HRAS, MAP2K1, RAF1
21
Show member pathways
7.9AKT1, BRAF, HRAS, MAP2K1, RAF1
22
Show member pathways
7.9AKT1, BRAF, HRAS, MAP2K1, RAF1
237.9AKT1, BRAF, HRAS, MAP2K1, RAF1
247.8AKT1, BRAF, GAB1, MAP2K1, RAF1
25
Show member pathways
7.7AKT1, GAB1, HRAS, MAP2K1, RAF1
26
Show member pathways
7.7AKT1, GAB1, HRAS, MAP2K1, RAF1
27
Show member pathways
7.7AKT1, GAB1, HRAS, MAP2K1, RAF1
28
Show member pathways
7.5AKT1, BRAF, HRAS, MAP2K1, PTPN11, RAF1
29
Show member pathways
7.5AKT1, BRAF, HRAS, MAP2K1, PTPN11, RAF1
30
Show member pathways
7.4AKT1, BRAF, HRAS, MAP2K1, PTPN11, RAF1
317.4AKT1, BRAF, HRAS, MAP2K1, NF1, RAF1
327.4AKT1, BRAF, HRAS, MAP2K1, NF1, RAF1
33
Show member pathways
7.3AKT1, GAB1, HRAS, MAP2K1, PTPN11, RAF1
34
Show member pathways
7.3AKT1, GAB1, HRAS, MAP2K1, PTPN11, RAF1
35
Show member pathways
7.3AKT1, GAB1, HRAS, MAP2K1, PTPN11, RAF1
367.3AKT1, GAB1, HRAS, MAP2K1, PTPN11, RAF1
37
Show member pathways
7.3AKT1, GAB1, HRAS, MAP2K1, PTPN11, RAF1
387.3AKT1, GAB1, HRAS, MAP2K1, PTPN11, RAF1
397.3AKT1, GAB1, HRAS, MAP2K1, PTPN11, RAF1
407.3AKT1, GAB1, HRAS, MAP2K1, PTPN11, RAF1
41
Show member pathways
7.3AKT1, GAB1, HRAS, MAP2K1, PTPN11, RAF1
42
Show member pathways
7.3AKT1, BRAF, GAB1, HRAS, MAP2K1, RAF1
43
Show member pathways
7.3AKT1, BRAF, GAB1, HRAS, MAP2K1, RAF1
44
Show member pathways
7.3AKT1, BRAF, GAB1, HRAS, MAP2K1, RAF1
45
Show member pathways
7.0AKT1, BRAF, HRAS, MAP2K1, NF1, PTPN11
466.9AKT1, BRAF, GAB1, HRAS, MAP2K1, PTPN11
47
Show member pathways
6.9AKT1, BRAF, GAB1, HRAS, MAP2K1, PTPN11
48
Show member pathways
6.9AKT1, BRAF, GAB1, HRAS, MAP2K1, PTPN11
49
Show member pathways
6.8AKT1, BRAF, GAB1, HRAS, MAP2K1, NF1
50
Show member pathways
6.4AKT1, BRAF, GAB1, HRAS, MAP2K1, NF1

GO Terms for genes affiliated with Leopard Syndrome

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

(show all 30)
idNameGO IDScoreTop Affiliating Genes
1regulation of axon regenerationGO:004867910.3BRAF, MAP2K1
2cerebellar cortex formationGO:002169710.3MAP2K1, PTPN11
3positive regulation of axonogenesisGO:005077210.3BRAF, MAP2K1
4somatic stem cell population maintenanceGO:003501910.2BRAF, RAF1
5cellular senescenceGO:009039810.0HRAS, MAP2K1
6phosphatidylinositol-3-phosphate biosynthetic processGO:003609210.0GAB1, PTPN11
7phosphatidylinositol phosphorylationGO:004685410.0GAB1, PTPN11
8protein heterooligomerizationGO:00512919.9BRAF, HRAS
9positive regulation of peptidyl-serine phosphorylationGO:00331389.8AKT1, RAF1
10thymus developmentGO:00485389.8BRAF, MAP2K1, RAF1
11spinal cord developmentGO:00215109.7AKT1, NF1
12T cell costimulationGO:00312959.7AKT1, PTPN11
13Ras protein signal transductionGO:00072659.6BRAF, MAP2K1, RAF1
14intrinsic apoptotic signaling pathwayGO:00971939.6AKT1, HRAS
15regulation of cell migrationGO:00303349.5AKT1, GAB1
16intracellular signal transductionGO:00355569.5AKT1, BRAF, RAF1
17regulation of long-term neuronal synaptic plasticityGO:00481699.4HRAS, NF1
18blood coagulationGO:00075969.1AKT1, HRAS, PTPN11
19negative regulation of gene expressionGO:00106299.0AKT1, HRAS, MAP2K1
20negative regulation of protein kinase activityGO:00064699.0AKT1, NF1
21ERBB2 signaling pathwayGO:00381289.0AKT1, GAB1, HRAS
22activation of MAPKK activityGO:00001868.6BRAF, HRAS, MAP2K1, NF1, RAF1
23Fc-epsilon receptor signaling pathwayGO:00380958.2AKT1, GAB1, NF1, PTPN11
24innate immune responseGO:00450877.8BRAF, HRAS, MAP2K1, NF1, PTPN11, RAF1
25epidermal growth factor receptor signaling pathwayGO:00071737.7BRAF, GAB1, HRAS, MAP2K1, NF1, PTPN11
26vascular endothelial growth factor receptor signaling pathwayGO:00480107.7AKT1, BRAF, HRAS, MAP2K1, NF1, RAF1
27fibroblast growth factor receptor signaling pathwayGO:00085437.5AKT1, BRAF, HRAS, MAP2K1, NF1, PTPN11
28signal transductionGO:00071656.9AKT1, BRAF, GAB1, HRAS, NF1, RAF1
29neurotrophin TRK receptor signaling pathwayGO:00480116.8AKT1, BRAF, GAB1, HRAS, MAP2K1, NF1
30insulin receptor signaling pathwayGO:00082866.7AKT1, BRAF, GAB1, HRAS, MAP2K1, NF1

Sources for Leopard Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet