MCID: LPR002
MIFTS: 60

Leopard Syndrome malady

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

Aliases & Classifications for Leopard Syndrome

About this section
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

About this section
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 familial generalized lentiginosis, 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

About this section

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 69)
idRelated DiseaseScoreTop Affiliating Genes
1leopard syndrome 130.4BRAF, GAB1, HRAS, MAP2K1, NF1, PTPN11
2familial generalized lentiginosis12.2
3leopard syndrome 212.1
4leopard syndrome 312.1
5ptpn11-related leopard syndrome11.9
6raf1-related leopard syndrome11.9
7braf-related leopard syndrome11.9
8noonan syndrome with multiple lentigines11.4
9pseudoachondroplastic dysplasia 210.5PTPN11, RAF1
10stork bite10.4PTPN11, RAF1
11dengue hemorrhagic fever10.3PTPN11, RAF1
12cardiomyopathy10.2
13splenogonadal fusion limb defects micrognatia10.2BRAF, HRAS
14hypertrophic cardiomyopathy10.2
15watson syndrome10.2NF1, PTPN11
16pilocytic astrocytoma10.1BRAF, NF1
17melas syndrome10.1HRAS, RAF1
18diencephalic astrocytomas10.1BRAF, NF1
19nuclear gene-encoded leigh syndrome10.1BRAF, PTPN11, RAF1
20metachondromatosis10.1BRAF, PTPN11, RAF1
21rad21-related cornelia de lange syndrome10.1BRAF, PTPN11, RAF1
22neuromuscular disease10.1HRAS, MAP2K1
23cauda equina intradural extramedullary astrocytoma10.0NF1, PTPN11
24granular cell tumor10.0
25neurofibromatosis10.0
26sporadic pheochromocytoma/secreting paraganglioma10.0HRAS, NF1
27childhood pilocytic astrocytoma10.0MAP2K1, NF1
28neurofibromatosis, type 19.8
29leukemia9.8
30melanoma9.8
31growth restriction, severe, with distinctive facies9.8HRAS, MAP2K1, PTPN11
32barbiturate dependence9.8BRAF, MAP2K1
33clivus chondroid chordoma9.8AKT1, HRAS
34myelofibrosis9.8HRAS, NF1, PTPN11
35leukemia, acute myelomonocytic, somatic, somatic9.7HRAS, NF1, PTPN11
36decubitus ulcer9.7HRAS, NF1, PTPN11
37schizencephaly9.7
38obesity9.7
39wolff-parkinson-white syndrome9.7
40neurofibromatosis-noonan syndrome9.7
41steatocystoma multiplex9.7
42pulmonary hypertension9.7
43infective endocarditis9.7
44autism spectrum disorder9.7
45cardiac arrest9.7
46endocarditis9.7
47lymphoblastic leukemia9.7
48respiratory failure9.7
49heart disease9.7
50patent ductus arteriosus9.7

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



Diseases related to leopard syndrome

Symptoms for Leopard Syndrome

About this section

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

UMLS symptoms related to Leopard Syndrome:


seizures, sense of smell impaired

Drugs & Therapeutics for Leopard Syndrome

About this section

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

About this section

Genetic tests related to Leopard Syndrome:

id Genetic test Affiliating Genes
1 Leopard Syndrome22 RAF1

Anatomical Context for Leopard Syndrome

About this section

MalaCards organs/tissues related to Leopard Syndrome:

33
Skin, Heart, Eye, Brain, Prostate, T cells, Pituitary

Animal Models for Leopard Syndrome or affiliated genes

About this section

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

About this section

Articles related to Leopard Syndrome:

(show top 50)    (show all 148)
idTitleAuthorsYear
1
LEOPARD syndrome and multiple granular cell tumors: An underreported association? (26728819)
2016
2
Pathogenesis of Multiple Lentigines in LEOPARD Syndrome with PTPN11 Gene Mutation. (25917897)
2015
3
LEOPARD syndrome: you could be the first one to diagnose! (25572376)
2015
4
PTPN11 mutation manifesting as LEOPARD syndrome associated with hypertrophic plexi and neuropathic pain. (25884655)
2015
5
Molecular basis of gain-of-function LEOPARD syndrome-associated SHP2 mutations. (24935154)
2014
6
LEOPARD syndrome: maxillofacial care. (24705231)
2014
7
Noonan and LEOPARD syndrome Shp2 variants induce heart displacement defects in zebrafish. (24718990)
2014
8
LEOPARD Syndrome Without Hearing Loss or Pulmonary Stenosis: A Report of 2 Cases. (25544017)
2014
9
LEOPARD syndrome with Wolff-Parkinson-White syndrome on electrocardiography. (24177621)
2013
10
Syndromic Hearing Loss in Association with PTPN11-Related Disorder: The Experience of Cochlear Implantation in a Child with LEOPARD Syndrome. (23799168)
2013
11
Structural and mechanistic insights into LEOPARD syndrome-associated SHP2 mutations. (23457302)
2013
12
RASopathies: from Noonan to LEOPARD syndrome. (24773692)
2013
13
LEOPARD syndrome: a variant of Noonan syndrome strongly associated with hypertrophic cardiomyopathy. (24775816)
2013
14
Scalp melanoma in a woman with LEOPARD syndrome: possible implication of PTPN11 signaling in melanoma pathogenesis. (24034393)
2013
15
New approaches to prevent LEOPARD syndrome-associated cardiac hypertrophy by specifically targeting Shp2-dependent signaling. (23673659)
2013
16
Two cases of LEOPARD syndrome--RAF1 mutations firstly described in children. (22389993)
2011
17
LEOPARD Syndrome with PTPN11 Gene Mutation Showing Six Cardinal Symptoms of LEOPARD. (21747628)
2011
18
Implantable cardioverter defibrillator for progressive hypertrophic cardiomyopathy in a patient with LEOPARD syndrome and a novel PTPN11 mutation Gln510His. (21910226)
2011
19
A familial case of LEOPARD syndrome associated with a high-functioning autism spectrum disorder. (21093184)
2011
20
An uncommon association between skin lesions and LEOPARD syndrome affected an old patient. Case report. (21657161)
2011
21
Phosphatase-dependent and -independent functions of Shp2 in neural crest cells underlie LEOPARD syndrome pathogenesis. (20493809)
2010
22
Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome. (20535210)
2010
23
Leopard syndrome and Chiari type I malformation: a case report and review of the literature. (19131856)
2009
24
IMAGE CARDIO MED. A patient with LEOPARD syndrome and PTPN11 mutation. (19273734)
2009
25
Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development. (18849586)
2009
26
Visual function in Noonan and LEOPARD syndrome. (19568997)
2008
27
Acute myelomonocytic leukemia in a boy with LEOPARD syndrome (PTPN11 gene mutation positive). (16679933)
2006
28
Reduced phosphatase activity of SHP-2 in LEOPARD syndrome: consequences for PI3K binding on Gab1. (16638574)
2006
29
Is sudden cardiac death predictable in LEOPARD syndrome? (17116277)
2006
30
LEOPARD syndrome: clinical diagnosis in the first year of life. (16523510)
2006
31
PTPN11 mutations and genotype-phenotype correlations in Noonan and LEOPARD syndromes. (16208280)
2005
32
Anaesthetic implications of LEOPARD syndrome. (15078383)
2004
33
LEOPARD syndrome: a new polyaneurysm association and an update on the molecular genetics of the disease. (15071461)
2004
34
A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndrome. (15470362)
2004
35
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
36
PTPN11 mutations in LEOPARD syndrome. (12161596)
2002
37
Leopard syndrome. (11599630)
2001
38
Leopard syndrome--report of a variant case. (10863481)
1999
39
Partial agenesis of corpus callosum in LEOPARD syndrome. (10583620)
1999
40
An intriguing case of LEOPARD syndrome. (9572697)
1998
41
Pigmentary anomalies in the multiple lentigines syndrome: Is it distinct from LEOPARD syndrome? (9122064)
1996
42
Neurofibromatosis type I gene mutation in a patient with features of LEOPARD syndrome. (8807336)
1996
43
LEOPARD syndrome associated with steatocystoma multiplex and hyperelastic skin. Report of a Japanese case. (8578962)
1995
44
Accumulation of membrane-bound melanosomes occurs in Langerhans cells of patients with the Leopard syndrome. (1424250)
1992
45
LEOPARD syndrome: death because of chronic respiratory insufficiency. (2260561)
1990
46
Dermal Merkel cells in the nevus of Ota and leopard syndrome. (6480925)
1984
47
Primary pulmonary hypertension in leopard syndrome. (7295444)
1981
48
49
50

Variations for Leopard Syndrome

About this section

Expression for genes affiliated with Leopard Syndrome

About this section
Search GEO for disease gene expression data for Leopard Syndrome.

Pathways for genes affiliated with Leopard Syndrome

About this section

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

(show top 50)    (show all 169)
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, GAB1, 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

About this section

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

About this section
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