MCID: LPR002
MIFTS: 53

Leopard Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Skin diseases, Reproductive diseases, Ear diseases, Cardiovascular diseases categories

Aliases & Classifications for Leopard Syndrome

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Sources:
10Disease Ontology, 45NIH Rare Diseases, 22GeneTests, 47Novoseek, 12DISEASES, 24GTR, 65UMLS, 36MeSH, 51Orphanet, 59SNOMED-CT, 42NCIt, 66UMLS via Orphanet
See all sources

Aliases & Descriptions for Leopard Syndrome:

Name: Leopard Syndrome 10 45 22 47 12 24 65 36
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
Cardiocutaneous Syndrome 10
Generalized Lentiginosis 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

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. most cases are inherited from a parent in an autosomal dominant pattern. less often, leopard syndrome occurs in people without a family history of the condition due to a new gene mutation. last updated: 12/8/2011

MalaCards based summary: Leopard Syndrome, also known as multiple lentigines syndrome, is related to leopard syndrome 1 and noonan syndrome 6, 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 Prostate Cancer and Interleukin-11 Signaling Pathway. Affiliated tissues include skin, heart and eye, and related mouse phenotypes are vision/eye and respiratory system.

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 102)
idRelated DiseaseScoreTop Affiliating Genes
1leopard syndrome 131.1BRAF, PTPN11, RAF1
2noonan syndrome 630.4PTPN11, RAF1
3noonan syndrome 129.1BRAF, GAB1, HRAS, MAP2K1, NF1, PTPN11
4cardiomyopathy10.5
5hypertrophic cardiomyopathy10.5
6leopard syndrome 210.5
7leopard syndrome 310.5
8familial generalized lentiginosis10.5
9neurofibromatosis10.3
10noonan syndrome with multiple lentigines10.3
11braf-related leopard syndrome10.3
12ptpn11-related leopard syndrome10.3
13raf1-related leopard syndrome10.3
14pseudoachondroplastic dysplasia 210.2PTPN11, RAF1
15alopecia epilepsy oligophrenia syndrome of moynahan10.2
16neurofibromatosis, type 110.2
17leukemia10.2
18granular cell tumor10.2
19melanoma10.2
20aorto-right ventricular tunnel10.2
21cardiomyopathy, dilated, with woolly hair and keratoderma10.1
22dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis10.1
23arrhythmogenic right ventricular dysplasia 110.1
24naxos disease10.1
25keratosis palmoplantaris striata i, ad10.1
26nuclear gene-encoded leigh syndrome10.1BRAF, PTPN11, RAF1
27cerebellar disease10.1BRAF, NF1
28splenogonadal fusion limb defects micrognatia10.1BRAF, HRAS
29watson syndrome10.1NF1, PTPN11
30her2-receptor negative breast cancer10.1BRAF, NF1
31noonan syndrome 410.0
32schizencephaly10.0
33coronary heart disease 210.0
34noonan syndrome 510.0
35c syndrome10.0
36short syndrome10.0
37wolff-parkinson-white syndrome10.0
38noonan syndrome 310.0
39neurofibromatosis-noonan syndrome10.0
40steatocystoma multiplex10.0
41coronary heart disease 310.0
42child syndrome10.0
43pulmonary hypertension10.0
44heart valve disease10.0
45skin disease10.0
46axonal neuropathy10.0
47cerebritis10.0
48cardiac arrest10.0
49autism spectrum disorder10.0
50bone cancer10.0

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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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 24 RAF1

Anatomical Context for Leopard Syndrome

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MalaCards organs/tissues related to Leopard Syndrome:

33
Skin, Heart, Eye

Animal Models for Leopard Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Leopard Syndrome:

38 (show all 23)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.8BRAF, GAB1, MAP2K1, NF1, PTPN11, RAF1
2MP:00053888.5AKT1, BRAF, HRAS, NF1, PTPN11, RAF1
3MP:00053808.3AKT1, BRAF, GAB1, MAP2K1, NF1, PTPN11
4MP:00053697.9AKT1, BRAF, GAB1, NF1, PIK3R1, PTPN11
5MP:00053867.8AKT1, BRAF, GAB1, GSK3B, HRAS, NF1
6MP:00053827.8BRAF, GAB1, GSK3B, HRAS, MAP2K1, NF1
7MP:00053907.7AKT1, BRAF, GSK3B, HRAS, MAP2K1, NF1
8MP:00107717.7AKT1, BRAF, GAB1, HRAS, MAP2K1, NF1
9MP:00036317.6AKT1, BRAF, GSK3B, HRAS, MAP2K1, NF1
10MP:00053847.5AKT1, BRAF, GAB1, MAP2K1, NF1, PIK3R1
11MP:00053877.5AKT1, BRAF, GSK3B, NF1, PIK3R1, PTPN11
12MP:00053707.4AKT1, BRAF, GAB1, GSK3B, NF1, PIK3R1
13MP:00020067.3AKT1, BRAF, HRAS, MAP2K1, NF1, PIK3R1
14MP:00053797.2AKT1, BRAF, GSK3B, HRAS, MAP2K1, NF1
15MP:00028736.9AKT1, BRAF, GSK3B, HRAS, MAP2K1, NF1
16MP:00053856.4AKT1, BRAF, GAB1, GSK3B, HRAS, MAP2K1
17MP:00107686.3AKT1, BRAF, GAB1, GSK3B, HRAS, MAP2K1
18MP:00053786.3AKT1, BRAF, GAB1, GSK3B, HRAS, MAP2K1
19MP:00053766.1AKT1, BRAF, GAB1, GSK3B, HRAS, MAP2K1

Publications for Leopard Syndrome

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Articles related to Leopard Syndrome:

(show top 50)    (show all 139)
idTitleAuthorsYear
1
Pathogenesis of Multiple Lentigines in LEOPARD Syndrome with PTPN11 Gene Mutation. (25917897)
2015
2
LEOPARD syndrome: you could be the first one to diagnose! (25572376)
2015
3
PTPN11 mutation manifesting as LEOPARD syndrome associated with hypertrophic plexi and neuropathic pain. (25884655)
2015
4
Molecular basis of gain-of-function LEOPARD syndrome-associated SHP2 mutations. (24935154)
2014
5
LEOPARD syndrome: maxillofacial care. (24705231)
2014
6
Noonan and LEOPARD syndrome Shp2 variants induce heart displacement defects in zebrafish. (24718990)
2014
7
LEOPARD Syndrome Without Hearing Loss or Pulmonary Stenosis: A Report of 2 Cases. (25544017)
2014
8
Phosphoproteomics-mediated identification of Fer kinase as a target of mutant Shp2 in Noonan and LEOPARD syndrome. (25184253)
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
RASopathies: From Noonan to LEOPARD Syndrome. (23830833)
2013
17
Two cases of LEOPARD syndrome--RAF1 mutations firstly described in children. (22389993)
2011
18
LEOPARD Syndrome with PTPN11 Gene Mutation Showing Six Cardinal Symptoms of LEOPARD. (21747628)
2011
19
Implantable cardioverter defibrillator for progressive hypertrophic cardiomyopathy in a patient with LEOPARD syndrome and a novel PTPN11 mutation Gln510His. (21910226)
2011
20
A familial case of LEOPARD syndrome associated with a high-functioning autism spectrum disorder. (21093184)
2011
21
An uncommon association between skin lesions and LEOPARD syndrome affected an old patient. Case report. (21657161)
2011
22
Phosphatase-dependent and -independent functions of Shp2 in neural crest cells underlie LEOPARD syndrome pathogenesis. (20493809)
2010
23
Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome. (20535210)
2010
24
Functional effects of PTPN11 (SHP2) mutations causing LEOPARD syndrome on epidermal growth factor-induced phosphoinositide 3-kinase/AKT/glycogen synthase kinase 3beta signaling. (20308328)
2010
25
Leopard syndrome and Chiari type I malformation: a case report and review of the literature. (19131856)
2009
26
IMAGE CARDIO MED. A patient with LEOPARD syndrome and PTPN11 mutation. (19273734)
2009
27
Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development. (18849586)
2009
28
Visual function in Noonan and LEOPARD syndrome. (19568997)
2008
29
Common acute lymphoblastic leukemia in a girl with genetically confirmed LEOPARD syndrome. (18799937)
2008
30
Acute myelomonocytic leukemia in a boy with LEOPARD syndrome (PTPN11 gene mutation positive). (16679933)
2006
31
Reduced phosphatase activity of SHP-2 in LEOPARD syndrome: consequences for PI3K binding on Gab1. (16638574)
2006
32
Is sudden cardiac death predictable in LEOPARD syndrome? (17116277)
2006
33
LEOPARD syndrome: clinical diagnosis in the first year of life. (16523510)
2006
34
PTPN11 mutations and genotype-phenotype correlations in Noonan and LEOPARD syndromes. (16208280)
2005
35
Anaesthetic implications of LEOPARD syndrome. (15078383)
2004
36
LEOPARD syndrome: a new polyaneurysm association and an update on the molecular genetics of the disease. (15071461)
2004
37
A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndrome. (15470362)
2004
38
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
39
PTPN11 mutations in LEOPARD syndrome. (12161596)
2002
40
Leopard syndrome. (11599630)
2001
41
Leopard syndrome--report of a variant case. (10863481)
1999
42
Partial agenesis of corpus callosum in LEOPARD syndrome. (10583620)
1999
43
An intriguing case of LEOPARD syndrome. (9572697)
1998
44
Pigmentary anomalies in the multiple lentigines syndrome: Is it distinct from LEOPARD syndrome? (9122064)
1996
45
Neurofibromatosis type I gene mutation in a patient with features of LEOPARD syndrome. (8807336)
1996
46
LEOPARD syndrome associated with steatocystoma multiplex and hyperelastic skin. Report of a Japanese case. (8578962)
1995
47
Accumulation of membrane-bound melanosomes occurs in Langerhans cells of patients with the Leopard syndrome. (1424250)
1992
48
LEOPARD syndrome: death because of chronic respiratory insufficiency. (2260561)
1990
49
Dermal Merkel cells in the nevus of Ota and leopard syndrome. (6480925)
1984
50
Primary pulmonary hypertension in leopard syndrome. (7295444)
1981

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
1RAF1NM_002880.3(RAF1): c.770C> T (p.Ser257Leu)single nucleotide variantPathogenicrs80338796GRCh37Chr 3, 12645699: 12645699
2RAF1NM_002880.3(RAF1): c.1837C> G (p.Leu613Val)single nucleotide variantPathogenicrs80338797GRCh37Chr 3, 12626123: 12626123
3RAF1NM_002880.3(RAF1): c.1456G> A (p.Asp486Asn)single nucleotide variantPathogenicrs80338798GRCh37Chr 3, 12627260: 12627260
4RAF1NM_002880.3(RAF1): c.1472C> T (p.Thr491Ile)single nucleotide variantPathogenicrs80338799GRCh37Chr 3, 12627244: 12627244
5BRAFNM_004333.4(BRAF): c.721A> C (p.Thr241Pro)single nucleotide variantPathogenicrs387906661GRCh37Chr 7, 140501351: 140501351
6BRAFNM_004333.4(BRAF): c.735A> T (p.Leu245Phe)single nucleotide variantLikely pathogenic, Pathogenicrs397507466GRCh37Chr 7, 140501337: 140501337

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 194)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
7.9AKT1, GAB1, HRAS, MAP2K1, PTPN11, RAF1
27.9AKT1, HRAS, PIK3R1, PTPN11, RAF1
37.9AKT1, HRAS, PIK3R1, PTPN11, RAF1
47.9AKT1, HRAS, MAP2K1, PIK3R1, RAF1
57.7AKT1, BRAF, GAB1, MAP2K1, PIK3R1, RAF1
67.7AKT1, GAB1, HRAS, PIK3R1, PTPN11
7
Show member pathways
7.7AKT1, BRAF, GSK3B, MAP2K1, PIK3R1, RAF1
87.6AKT1, BRAF, HRAS, MAP2K1, PIK3R1, RAF1
9
VEGF Pathway (Tocris)
Show member pathways
7.6AKT1, BRAF, HRAS, MAP2K1, PIK3R1, RAF1
10
Show member pathways
7.6AKT1, BRAF, HRAS, MAP2K1, PIK3R1, RAF1
11
Show member pathways
7.6AKT1, HRAS, MAP2K1, PIK3R1, PTPN11, RAF1
12
Show member pathways
7.6AKT1, HRAS, MAP2K1, PIK3R1, PTPN11, RAF1
137.5AKT1, GAB1, GSK3B, HRAS, PIK3R1
14
Show member pathways
7.4AKT1, GAB1, HRAS, MAP2K1, PIK3R1, RAF1
15
Show member pathways
7.4AKT1, GAB1, HRAS, MAP2K1, PIK3R1, RAF1
167.4AKT1, BRAF, GSK3B, HRAS, PIK3R1, RAF1
177.4AKT1, GSK3B, HRAS, PIK3R1, PTPN11, RAF1
187.4AKT1, GSK3B, HRAS, MAP2K1, PIK3R1, RAF1
197.4AKT1, GSK3B, HRAS, MAP2K1, PIK3R1, RAF1
20
Show member pathways
7.4AKT1, GSK3B, HRAS, MAP2K1, PIK3R1, RAF1
217.4AKT1, GSK3B, HRAS, MAP2K1, PIK3R1, RAF1
22
Show member pathways
7.3AKT1, BRAF, HRAS, MAP2K1, PIK3R1, PTPN11
23
Show member pathways
7.3AKT1, BRAF, HRAS, MAP2K1, PIK3R1, PTPN11
24
Show member pathways
7.1AKT1, BRAF, GAB1, HRAS, MAP2K1, PIK3R1
257.1AKT1, GAB1, HRAS, MAP2K1, PIK3R1, PTPN11
26
Show member pathways
7.1AKT1, GAB1, HRAS, MAP2K1, PIK3R1, PTPN11
27
Show member pathways
7.1AKT1, GAB1, HRAS, MAP2K1, PIK3R1, PTPN11
28
Show member pathways
7.1AKT1, BRAF, GSK3B, HRAS, MAP2K1, PIK3R1
29
Show member pathways
7.1AKT1, BRAF, GSK3B, HRAS, MAP2K1, PIK3R1
30
Show member pathways
7.0AKT1, GSK3B, HRAS, MAP2K1, PIK3R1, PTPN11
31
B cell receptor signaling pathway (KEGG)
Show member pathways
7.0AKT1, GSK3B, HRAS, MAP2K1, PIK3R1, PTPN11
32
Show member pathways
7.0AKT1, GSK3B, HRAS, MAP2K1, PIK3R1, PTPN11
337.0AKT1, GSK3B, HRAS, MAP2K1, PIK3R1, PTPN11
34
B Cell Receptor Signaling Pathway (WikiPathways)
Show member pathways
6.9AKT1, GSK3B, HRAS, MAP2K1, PIK3R1, PTPN11
35
Show member pathways
6.9AKT1, GAB1, GSK3B, HRAS, MAP2K1, PIK3R1
366.8AKT1, BRAF, GAB1, HRAS, MAP2K1, PIK3R1
37
Show member pathways
6.7AKT1, BRAF, GSK3B, HRAS, MAP2K1, PIK3R1
386.7AKT1, BRAF, GSK3B, HRAS, MAP2K1, NF1
39
Show member pathways
6.6AKT1, BRAF, GAB1, GSK3B, HRAS, MAP2K1
40
Show member pathways
6.6AKT1, BRAF, GAB1, GSK3B, HRAS, MAP2K1
41
Show member pathways
6.6AKT1, BRAF, GAB1, GSK3B, HRAS, MAP2K1
426.6AKT1, GAB1, GSK3B, HRAS, MAP2K1, PIK3R1
43
Show member pathways
6.6AKT1, GAB1, GSK3B, HRAS, MAP2K1, PIK3R1
446.6AKT1, GAB1, GSK3B, HRAS, MAP2K1, PIK3R1
456.6AKT1, GAB1, GSK3B, HRAS, MAP2K1, PIK3R1
46
Show member pathways
6.4AKT1, BRAF, GAB1, HRAS, MAP2K1, NF1
47
Show member pathways
6.4AKT1, BRAF, GSK3B, HRAS, MAP2K1, NF1
48
Show member pathways
6.3AKT1, BRAF, GAB1, GSK3B, HRAS, MAP2K1
49
Show member pathways
6.3AKT1, BRAF, GAB1, GSK3B, HRAS, MAP2K1
50
Show member pathways
6.2AKT1, BRAF, GAB1, GSK3B, HRAS, MAP2K1

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:00058295.8AKT1, BRAF, GAB1, GSK3B, HRAS, MAP2K1
2nucleusGO:00056345.7AKT1, BRAF, CDKN3, GSK3B, HRAS, MAP2K1
3cytoplasmGO:00057375.5AKT1, BRAF, CDKN3, GAB1, GSK3B, HRAS

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

(show all 50)
idNameGO IDScoreTop Affiliating Genes
1regulation of axon regenerationGO:004867910.5BRAF, MAP2K1
2positive regulation of axonogenesisGO:005077210.5BRAF, MAP2K1
3labyrinthine layer developmentGO:006071110.3GAB1, MAP2K1
4negative regulation of protein complex assemblyGO:003133310.3GSK3B, RAF1
5regulation of long-term neuronal synaptic plasticityGO:004816910.2HRAS, NF1
6cellular senescenceGO:009039810.1HRAS, MAP2K1
7positive regulation of Ras protein signal transductionGO:004657910.1HRAS, MAP2K1
8cellular glucose homeostasisGO:000167810.1PIK3R1, RAF1
9positive regulation of glucose import in response to insulin stimulusGO:200127510.1PIK3R1, PTPN11
10regulation of neuron projection developmentGO:001097510.1AKT1, GSK3B
11negative regulation of cell-matrix adhesionGO:000195310.0NF1, PIK3R1
12negative regulation of osteoclast differentiationGO:00456719.9NF1, PIK3R1
13insulin-like growth factor receptor signaling pathwayGO:00480099.9AKT1, PIK3R1
14protein heterooligomerizationGO:00512919.8BRAF, HRAS, MAP2K1
15activation of MAPK activityGO:00001879.8GAB1, MAP2K1, PTPN11
16positive regulation of glucose importGO:00463269.7AKT1, PIK3R1
17positive regulation of ERK1 and ERK2 cascadeGO:00703749.7BRAF, HRAS, PTPN11
18cell cycle arrestGO:00070509.6CDKN3, HRAS, MAP2K1
19positive regulation of protein phosphorylationGO:00019349.6AKT1, HRAS, RAF1
20response to oxidative stressGO:00069799.6AKT1, GAB1, MAP2K1
21organ morphogenesisGO:00098879.6BRAF, GSK3B, HRAS
22negative regulation of gene expressionGO:00106299.5AKT1, HRAS, MAP2K1
23positive regulation of establishment of protein localization to plasma membraneGO:00900049.5AKT1, PIK3R1
24T cell costimulationGO:00312959.4AKT1, PIK3R1, PTPN11
25positive regulation of peptidyl-serine phosphorylationGO:00331389.4AKT1, BRAF, GSK3B, RAF1
26heart developmentGO:00075079.4GAB1, NF1, PTPN11, RAF1
27leukocyte migrationGO:00509009.3HRAS, PIK3R1, PTPN11
28positive regulation of cell migrationGO:00303359.2HRAS, MAP2K1, PIK3R1
29MAPK cascadeGO:00001659.0BRAF, HRAS, MAP2K1, NF1, RAF1
30activation of MAPKK activityGO:00001869.0BRAF, HRAS, MAP2K1, NF1, RAF1
31Ras protein signal transductionGO:00072659.0BRAF, HRAS, MAP2K1, NF1, RAF1
32negative regulation of cell proliferationGO:00082859.0CDKN3, HRAS, MAP2K1, NF1, RAF1
33cell proliferationGO:00082838.8AKT1, GAB1, HRAS, MAP2K1, RAF1
34small GTPase mediated signal transductionGO:00072648.6BRAF, HRAS, MAP2K1, NF1, RAF1
35intracellular signal transductionGO:00355568.5AKT1, BRAF, GSK3B, RAF1
36negative regulation of apoptotic processGO:00430668.5AKT1, BRAF, GSK3B, PIK3R1, RAF1
37positive regulation of GTPase activityGO:00435478.5GSK3B, HRAS, MAP2K1, NF1
38phosphatidylinositol-mediated signalingGO:00480158.4AKT1, GAB1, GSK3B, PIK3R1, PTPN11
39protein phosphorylationGO:00064688.2AKT1, BRAF, GSK3B, MAP2K1, PIK3R1, RAF1
40axon guidanceGO:00074118.0BRAF, GSK3B, HRAS, MAP2K1, NF1, PTPN11
41blood coagulationGO:00075968.0AKT1, HRAS, PIK3R1, PTPN11, RAF1
42positive regulation of transcription from RNA polymerase II promoterGO:00459447.7AKT1, GSK3B, HRAS, PIK3R1, RAF1
43vascular endothelial growth factor receptor signaling pathwayGO:00480107.5AKT1, BRAF, HRAS, MAP2K1, NF1, PIK3R1
44signal transductionGO:00071657.0AKT1, BRAF, GAB1, HRAS, MAP2K1, NF1
45insulin receptor signaling pathwayGO:00082866.9AKT1, BRAF, GAB1, HRAS, MAP2K1, NF1
46fibroblast growth factor receptor signaling pathwayGO:00085436.3AKT1, BRAF, GAB1, GSK3B, HRAS, MAP2K1
47Fc-epsilon receptor signaling pathwayGO:00380956.3AKT1, BRAF, GAB1, GSK3B, HRAS, MAP2K1
48neurotrophin TRK receptor signaling pathwayGO:00480116.3AKT1, BRAF, GAB1, GSK3B, HRAS, MAP2K1
49epidermal growth factor receptor signaling pathwayGO:00071736.3AKT1, BRAF, GAB1, GSK3B, HRAS, MAP2K1
50innate immune responseGO:00450876.2AKT1, BRAF, GAB1, GSK3B, HRAS, MAP2K1

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1small GTPase bindingGO:003126710.5BRAF, RAF1
2Ras GTPase bindingGO:001701610.4MAP2K1, RAF1
3mitogen-activated protein kinase kinase bindingGO:003143410.4BRAF, RAF1
4MAP kinase kinase kinase activityGO:000470910.4BRAF, RAF1
5insulin receptor substrate bindingGO:00435609.9PIK3R1, PTPN11
6protein serine/threonine/tyrosine kinase activityGO:00047129.6AKT1, MAP2K1
7protein kinase activityGO:00046728.4AKT1, BRAF, GSK3B, MAP2K1, RAF1
8protein serine/threonine kinase activityGO:00046748.2AKT1, BRAF, GSK3B, MAP2K1, RAF1

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