MCID: LPR002
MIFTS: 66

Leopard Syndrome malady

Neuronal, Skin, Reproductive, Ear, Cardiovascular categories

Summaries for Leopard Syndrome

Sources:
43NIH Rare Diseases, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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: Leopard Syndrome, also known as multiple lentigines syndrome, is related to hypertrophic cardiomyopathy and noonan syndrome, 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 (v-raf-1 murine leukemia viral oncogene homolog 1), and among its related pathways are Nongenotropic Androgen signaling and Insulin Pathway. The compounds glutamate and sodium stibogluconate have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and skin, and related mouse phenotypes are adipose tissue and skeleton.

Genetics Home Reference:21 Multiple lentigines syndrome (formerly called LEOPARD syndrome) is a condition that affects many areas of the body. The characteristic features associated with the condition include brown skin spots called lentigines that are similar to freckles, abnormalities in the electrical signals that control the heartbeat, widely spaced eyes (ocular hypertelorism), a narrowing of the artery from the heart to the lungs (pulmonary stenosis), abnormalities of the genitalia, short stature, and hearing loss. These features vary, however, even among affected individuals in the same family. Not all individuals affected with multiple lentigines syndrome have all the characteristic features of this condition.

Wikipedia:64 LEOPARD syndrome (also known as Cardiocutaneous syndrome, Gorlin syndrome II, Lentiginosis profusa... more...

Description from OMIM:47 611554,151100,613707,203600

GeneReviews summary for leopard

Aliases & Classifications for Leopard Syndrome

Sources:
8Disease Ontology, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 45Novoseek, 61UMLS, 49Orphanet, 47OMIM, 40NCIt, 57SNOMED-CT, 35MeSH, 58SNOMED-CT via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal, Skin, Reproductive, Ear, Cardiovascular


Aliases & Descriptions:

leopard syndrome 8 19 43 20 22 21 10 45 61
multiple lentigines syndrome 8 19 43 21
moynahan syndrome 8 21 49 47
progressive cardiomyopathic lentiginosis 8 21
cardiomyopathic lentiginosis 19 43
lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, deafnes 43
alopecia-epilepsy-oligophrenia syndrome, moynahan type 49
capute-rimoin-konigsmark-esterly-richardson syndrome 8
alopecia epilepsy oligophrenia syndrome of moynahan 61
progressive cardiomyopathic lentiginosis syndrome 61
noonan syndrome with multiple lentigines 21
lentiginosis profusa syndrome 8
basal cell nevus syndrome 61
cardio-cutaneous syndrome 21
generalized lentiginosis 8
cardiocutaneous syndrome 8
lentiginosis profusa 21
diffuse lentiginosis 21
gorlin syndrome ii 8


External Ids:

Disease Ontology8 DOID:14291
NCIt40 C84820
MeSH35 D044542
SNOMED-CT via Orphanet58 45167004

Related Diseases for Leopard Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Leopard Syndrome family:

leopard syndrome 2 leopard syndrome 3
leopard syndrome 1

Diseases related to Leopard Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 149)
idRelated DiseaseScoreTop Affiliating Genes
1hypertrophic cardiomyopathy30.7PTPN11
2noonan syndrome30.7BRAF, SOS1, SHOC2, MAP2K2, MAP2K1, HRAS
3neurofibromatosis30.4HRAS, RAF1, PTPN11
4adenocarcinoma30.2JUP, BRAF, PIK3R1, PIK3CA, AKT1, MAP2K1
5naxos disease30.1JUP, DSP
6short stature29.9BRAF, SOS1, MAP2K2, MAP2K1, HRAS, PTPN11
7nevoid basal cell carcinoma syndrome10.7
8n syndrome10.7
9basal cell carcinoma10.6
10familial generalized lentiginosis10.5
11leopard syndrome 110.4
12dysplastic nevus syndrome10.3
13myoblastoma10.3
14leopard syndrome 310.3
15ptpn11-related leopard syndrome10.2
16leopard syndrome 210.2
17eye carcinoma10.2
18xeroderma pigmentosum10.2
19brachydactyly10.2
20focal dermal hypoplasia10.2
21ganglioglioma10.2
22eyelid carcinoma10.2
23infundibulocystic basal cell carcinoma10.2
24pseudopseudohypoparathyroidism10.2
25robinow syndrome10.2
26basaloid follicular hamartoma10.2
27nevo syndrome10.2
28chromosome 9q deletion10.2
29basal cell carcinoma, somatic10.2
30granular cell tumor10.1
31acute leukemia10.1
32young syndrome10.1
33raf1-related leopard syndrome10.1
34braf-related leopard syndrome10.1
35renal agenesis10.1
36aorto-ventricular tunnel10.1
37unilateral renal agenesis10.1
38alopecia epilepsy oligophrenia syndrome of moynahan10.1
39marfan syndrome10.0
40primary pulmonary hypertension10.0
41axonal neuropathy10.0
42wolff-parkinson-white syndrome10.0
43werner syndrome10.0
44familial hypertrophic cardiomyopathy10.0
45adult syndrome10.0
46autism spectrum disorder10.0
473-m syndrome10.0
48short syndrome10.0
49acute myelomonocytic leukemia10.0
50corpus callosum agenesis10.0

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



Diseases related to leopard syndrome

Clinical Features for Leopard Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

611554,151100,613707,203600

Clinical synopsis from OMIM:

203600

Symptoms:

49 (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

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Leopard Syndrome

Drug clinical trials:

Search ClinicalTrials for Leopard Syndrome

Search NIH Clinical Center for Leopard Syndrome

Search CenterWatch for Leopard Syndrome

Genetic Tests for Leopard Syndrome

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Leopard Syndrome:

id Genetic test Affiliating Genes
1 Leopard Syndrome20 22 RAF1

Anatomical Context for Leopard Syndrome

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Leopard Syndrome:

33
Heart, Lung, Skin, Endothelial

Animal Models for Leopard Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Leopard Syndrome:

37 (show all 22)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537510.3PTPN1
2MP:00053909.7AKT1, NFATC4, HRAS, PTPN1
3MP:00036319.6NFATC4, MAP2K1, HRAS, RAF1, PTPN11
4MP:00053919.1SOS1, GAB1, MAP2K2, MAP2K1, RAF1
5MP:00053799.1PIK3CA, AKT1, NFATC4, MAP2K1, HRAS, PTPN11
6MP:00053888.9JUP, AKT1, SHOC2, RAF1, PTPN11
7MP:00053808.8CSRNP3, GAB1, SHOC2, DSP, NFATC4
8MP:00053698.7JUP, BRAF, SOS1, GAB1, PIK3R1, NFATC4
9MP:00030128.7SOS1, PIK3R1, PIK3CA, HRAS, RAF1, PTPN11
10MP:00020068.7BRAF, PIK3R1, PIK3CA, AKT1, MAP2K2, MAP2K1
11MP:00053818.5BRAF, SOS1, GAB1, NFATC4, MAP2K2, MAP2K1
12MP:00053708.4JUP, BRAF, GAB1, PIK3R1, AKT1, RAF1
13MP:00028738.3BRAF, PIK3R1, AKT1, SHOC2, MAP2K2, MAP2K1
14MP:00053828.2BRAF, SOS1, GAB1, NFATC4, MAP2K2, MAP2K1
15MP:00107718.0JUP, SOS1, GAB1, PIK3CA, AKT1, SHOC2
16MP:00053868.0GAB1, PIK3CA, AKT1, NFATC4, HRAS, RAF1
17MP:00053767.4JUP, SOS1, GAB1, PIK3R1, PIK3CA, AKT1
18MP:00053877.3JUP, BRAF, SOS1, CSRNP3, PIK3R1, PIK3CA
19MP:00053857.0JUP, BRAF, SOS1, GAB1, PIK3R1, PIK3CA
20MP:00053846.9PIK3CA, PIK3R1, GAB1, SOS1, BRAF, JUP
21MP:00053785.9GSK3B, JUP, BRAF, SOS1, GAB1, PIK3R1
22MP:00107685.7AKT1, PIK3CA, PIK3R1, GAB1, CSRNP3, SOS1

Publications for Leopard Syndrome

Sources:
51PubMed
See all sources

Articles related to Leopard Syndrome:

(show top 50)    (show all 128)
idTitleAuthorsYear
1
Syndromic Hearing Loss in Association with PTPN11-Related Disorder: The Experience of Cochlear Implantation in a Child with LEOPARD Syndrome. (23799168)
2013
2
Structural and mechanistic insights into LEOPARD syndrome-associated SHP2 mutations. (23457302)
2013
3
Scalp melanoma in a woman with LEOPARD syndrome: possible implication of PTPN11 signaling in melanoma pathogenesis. (24034393)
2013
4
New approaches to prevent LEOPARD syndrome-associated cardiac hypertrophy by specifically targeting Shp2-dependent signaling. (23673659)
2013
5
RASopathies: From Noonan to LEOPARD Syndrome. (23830833)
2013
6
LEOPARD syndrome. (22832481)
2012
7
Two cases of LEOPARD syndrome--RAF1 mutations firstly described in children. (22389993)
2011
8
LEOPARD Syndrome with PTPN11 Gene Mutation Showing Six Cardinal Symptoms of LEOPARD. (21747628)
2011
9
Rapamycin reverses hypertrophic cardiomyopathy in a mouse model of LEOPARD syndrome-associated PTPN11 mutation. (21339643)
2011
10
LEOPARD syndrome (PTPN11, T468M) in three boys fulfilling neurofibromatosis type 1 clinical criteria. (21365175)
2011
11
Phosphatase-dependent and -independent functions of Shp2 in neural crest cells underlie LEOPARD syndrome pathogenesis. (20493809)
2010
12
Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome. (20535210)
2010
13
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
14
Coronary artery dilation in LEOPARD syndrome: surveillance with low radiation dose cardiac CT. (20801861)
2010
15
Familial cases of atypical clinical features genetically diagnosed as LEOPARD syndrome (multiple lentigines syndrome). (20883402)
2010
16
LEOPARD syndrome with recurrent PTPN11 mutation Y279C and different cutaneous manifestations: two case reports and a review of the literature. (19768645)
2010
17
A novel PTPN11 missense mutation in a patient with LEOPARD syndrome. (19659470)
2009
18
Schizencephaly in LEOPARD syndrome. (19520282)
2009
19
Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence. (19416762)
2009
20
Walker-Warburg Syndrome Manifesting as Leopard Spot Retinopathy, Retinal Detachment, and Microphthalmia. (19791710)
2009
21
Visual function in Noonan and LEOPARD syndrome. (19568997)
2008
22
Common acute lymphoblastic leukemia in a girl with genetically confirmed LEOPARD syndrome. (18799937)
2008
23
Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes. (18372317)
2008
24
Leopard syndrome. (18627709)
2008
25
LEOPARD syndrome: what are cafAc noir spots? (18789084)
2008
26
LEOPARD syndrome with partly normal skin and sex chromosome mosaicism. (17935252)
2007
27
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. (17603483)
2007
28
LEOPARD syndrome: clinical diagnosis in the first year of life. (16523510)
2006
29
PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects. (16377799)
2006
30
Aortic root dilatation with redundancy of mitral and aortic leaflets associated with the LEOPARD syndrome. (16000228)
2006
31
LEOPARD syndrome: cardiac imaging findings. (15728011)
2005
32
A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndrome. (15470362)
2004
33
Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome. (15121796)
2004
34
Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. (12058348)
2002
35
Flecainide-associated pneumonitis with acute respiratory failure in a patient with the LEOPARD syndrome. (10707759)
2000
36
Leopard syndrome associated with hyperelastic skin: analysis of collagen metabolism in cultured skin fibroblasts. (10449938)
1999
37
LEOPARD syndrome in a patient with morphea and acro-osteolysis. (9677256)
1998
38
Cardiomyopathic lentiginosis/LEOPARD syndrome presenting as sudden cardiac arrest. (9596329)
1998
39
Neurofibromatosis type I gene mutation in a patient with features of LEOPARD syndrome. (8807336)
1996
40
LEOPARD syndrome associated with steatocystoma multiplex and hyperelastic skin. Report of a Japanese case. (8578962)
1995
41
Accumulation of membrane-bound melanosomes occurs in Langerhans cells of patients with the Leopard syndrome. (1424250)
1992
42
LEOPARD syndrome: death because of chronic respiratory insufficiency. (2260561)
1990
43
Spotting heart disease: Leopard syndrome. (3665613)
1987
44
Dermal Merkel cells in the nevus of Ota and leopard syndrome. (6480925)
1984
45
A study of a family with leopard syndrome. (7061405)
1982
46
Primary pulmonary hypertension in leopard syndrome. (7295444)
1981
47
Leopard syndrome, a neural crest disorder: a case report. (7283801)
1981
48
Leopard syndrome. (6088)
1975
49
A family study of the leopard syndrome. (5581024)
1971
50
Generalized lentigines associated with multiple congenital defects (leopard syndrome). (5433909)
1970

Genetic Variations for Leopard Syndrome

Expression for genes affiliated with Leopard Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Leopard Syndrome

Search GEO for disease gene expression data for Leopard Syndrome.

Pathways for genes affiliated with Leopard Syndrome

Sources:
38NCBI BioSystems Database, 50PharmGKB, 60Tocris Bioscience, 52QIAGEN, 12EMD Millipore, 54Reactome, 30KEGG, 53R&D Systems
See all sources

Pathways related to Leopard Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 242)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
18.8RAF1, HRAS, MAP2K1, MAP2K2, AKT1, PIK3CA
28.8PIK3CA, PTPN1, PTPN11, HRAS, AKT1, PIK3R1
38.7GSK3B, PTPN11, HRAS, MAP2K1, GAB1, SOS1
48.6PTPN1, PTPN11, RAF1, HRAS, AKT1, PIK3CA
5
Hide members
8.6AKT1, PIK3CA, PIK3R1, BRAF, MAP2K2, MAP2K1
6
Hide members
8.6PIK3CA, AKT1, MAP2K2, MAP2K1, HRAS, RAF1
7
Hide members
8.6SOS1, PIK3R1, PIK3CA, AKT1, MAP2K2, MAP2K1
8
Hide members
8.5HRAS, BRAF, RAF1, MAP2K1, MAP2K2, PIK3R1
9
G-protein signaling Ras family GTPases in kinase cascades (scheme)
Hide members
8.5PTPN11, RAF1, HRAS, MAP2K1, MAP2K2, AKT1
10
Development A2B receptor- action via G-protein alpha s
Hide members
8.4AKT1, MAP2K2, SOS1, MAP2K1, HRAS, GSK3B
11
Hide members
8.4RAF1, HRAS, MAP2K1, MAP2K2, PIK3CA, PIK3R1
12
Hide members
8.4PIK3R1, SOS1, PTPN11, RAF1, HRAS, MAP2K1
13
Immune response IL-2 activation and signaling pathway
Hide members
8.4PIK3R1, SOS1, RAF1, HRAS, PTPN11, MAP2K1
14
Hide members
8.4PIK3CA, PIK3R1, SOS1, AKT1, MAP2K2, MAP2K1
15
Development Dopamine D2 receptor transactivation of EGFR
Hide members
8.4SOS1, PTPN11, PIK3R1, PIK3CA, AKT1, MAP2K2
168.3AKT1, NFATC4, MAP2K2, MAP2K1, RAF1, PTPN11
178.3PIK3R1, SOS1, BRAF, AKT1, MAP2K2, GSK3B
18
Hide members
8.2MAP2K2, PIK3CA, PIK3R1, GAB1, SOS1, MAP2K1
19
Hide members
8.2PTPN11, RAF1, HRAS, MAP2K1, MAP2K2, AKT1
20
Hide members
8.2PTPN11, RAF1, HRAS, MAP2K1, MAP2K2, AKT1
21
Hide members
8.2HRAS, MAP2K1, MAP2K2, AKT1, PIK3CA, PIK3R1
22
Cell adhesion Integrin-mediated cell adhesion and migration
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8.2GSK3B, RAF1, MAP2K1, MAP2K2, AKT1, HRAS
23
Development EPO-induced Jak-STAT pathway
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8.1MAP2K2, AKT1, PIK3R1, GAB1, SOS1, MAP2K1
24
Hide members
8.1RAF1, HRAS, MAP2K1, MAP2K2, AKT1, PIK3R1
258.1GSK3B, PTPN11, RAF1, MAP2K1, MAP2K2, PIK3R1
26
Hide members
8.1SOS1, GAB1, PIK3CA, AKT1, PTPN11, RAF1
27
Hide members
8.1PIK3R1, SOS1, BRAF, AKT1, NFATC4, GSK3B
28
Hide members
8.1BRAF, MAP2K1, MAP2K2, NFATC4, AKT1, PIK3R1
298.0MAP2K1, MAP2K2, AKT1, PIK3CA, PIK3R1, GAB1
307.9PTPN1, PTPN11, ACP1, HRAS, AKT1, PIK3CA
31
Development FGF-family signaling
Hide members
7.9PTPN11, RAF1, HRAS, MAP2K1, MAP2K2, AKT1
32
Development Prolactin receptor signaling
Hide members
7.8GSK3B, PTPN1, PTPN11, RAF1, HRAS, MAP2K1
337.8GSK3B, PTPN11, RAF1, HRAS, MAP2K1, MAP2K2
347.7SOS1, AKT1, PIK3CA, PIK3R1, BRAF, JUP
35
Hide members
7.7MAP2K2, AKT1, PIK3CA, PIK3R1, SOS1, BRAF
367.7PTPN11, RAF1, HRAS, MAP2K1, MAP2K2, AKT1
37
Hide members
7.7SOS1, GSK3B, RAF1, HRAS, MAP2K1, MAP2K2
38
Hide members
7.6GSK3B, PTPN11, RAF1, HRAS, MAP2K1, MAP2K2
397.6PTPN11, RAF1, HRAS, MAP2K1, MAP2K2, SHOC2
40
Hide members
7.5GSK3B, PTPN11, RAF1, HRAS, MAP2K1, MAP2K2
41
Hide members
7.5GSK3B, PTPN11, RAF1, HRAS, MAP2K1, MAP2K2
42
Hide members
7.5PIK3CA, PIK3R1, GAB1, SOS1, AKT1, MAP2K2
43
Hide members
7.5GSK3B, RAF1, HRAS, MAP2K1, MAP2K2, AKT1
44
Hide members
7.5SOS1, BRAF, GAB1, PIK3R1, GSK3B, RAF1
45
Hide members
7.5MAP2K2, AKT1, PIK3CA, PIK3R1, GAB1, SOS1
46
Hide members
7.5GAB1, SOS1, BRAF, PIK3R1, GSK3B, RAF1
477.3PIK3R1, GAB1, SOS1, GSK3B, PTPN1, PTPN11
48
Hide members
7.3AKT1, PIK3R1, GAB1, SOS1, BRAF, JUP
49
Hide members
7.1PIK3CA, PIK3R1, GAB1, SOS1, BRAF, AKT1
50
Translation Insulin regulation of translation
Hide members
6.9HRAS, MAP2K1, MAP2K2, NFATC4, AKT1, PIK3CA

Compounds for genes affiliated with Leopard Syndrome

Sources:
45Novoseek, 11DrugBank, 29IUPHAR, 24HMDB, 60Tocris Bioscience, 50PharmGKB, 2BitterDB
See all sources

Compounds related to Leopard Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 134)
idCompoundScoreTop Affiliating Genes
1glutamate4510.4PIK3R1
2sodium stibogluconate45 1111.1ACP1, PTPN11
3cycloheximide4510.0MAP2K2, RAF1
417-(allylamino)-17-demethoxygeldanamycin459.8AKT1, BRAF, MAP2K1, RAF1
5adp45 29 2411.7AKT1, MAP2K2, MAP2K1
6ag 1478459.6PIK3CA, AKT1, MAP2K1, RAF1, PTPN11
7ptdins(3)p459.5PIK3R1, PIK3CA, AKT1, CDKN3
8glucose459.5PIK3CA, MAP2K1, HRAS, AKT1, BRAF
9sodium orthovanadate45 6010.4ACP1, CDKN3, PTPN11, PTPN1, RAF1
10gp 130459.4PTPN11, PIK3R1, MAP2K1, HRAS, GAB1
11imatinib45 50 1111.4PTPN1, PTPN11, RAF1, MAP2K1, PIK3R1, BRAF
12vanadate459.3PTPN1, PTPN11, ACP1, MAP2K1, CDKN3
13phenylalanine459.2PTPN1, PTPN11, HRAS, PIK3R1, GAB1, BRAF
1412-o-tetradecanoylphorbol 13-acetate459.2MAP2K1, ACP1, DSP, BRAF, RAF1, HRAS
15gtp45 2910.2BRAF, AKT1, SOS1, PIK3R1, PIK3CA, RAF1
16paclitaxel45 50 1111.1AKT1, BRAF, JUP, MAP2K1, HRAS, RAF1
17sb 20358045 6010.1RAF1, PIK3R1, AKT1, BRAF, ACP1, PTPN11
18diphenyleneiodonium459.0AKT1, ACP1, CDKN3, PTPN1
19pd 98,059459.0RAF1, MAP2K1, MAP2K2, AKT1, PIK3CA, HRAS
20cytochalasin d45 609.9CDKN3, AKT1, RAF1, ACP1, PTPN1
21herbimycin a45 609.9CDKN3, RAF1, ACP1, PTPN11, HRAS, AKT1
22okadaic acid45 609.9RAF1, MAP2K1, PTPN1, PIK3R1, ACP1, PIK3CA
23phosphatidylinositol-3,4,5-trisphosphate45 249.9GAB1, PIK3R1, PIK3CA, AKT1, CDKN3, PTPN11
24agar458.8RAF1, JUP, BRAF, PIK3R1, PIK3CA, PTPN11
25dexamethasone45 50 29 1111.8MAP2K1, ACP1, RAF1, PIK3CA, AKT1, JUP
26etoposide45 50 60 1111.7PTPN11, PIK3R1, PIK3CA, AKT1, MAP2K1, CDKN3
27aspartate458.7RAF1, AKT1, CDKN3, PIK3R1, ACP1, BRAF
28nmda45 299.7ACP1, AKT1, HRAS, CDKN3, PIK3CA, MAP2K1
29arginine458.7PTPN11, PIK3CA, AKT1, HRAS, ACP1, BRAF
30glycogen45 249.6PIK3R1, GSK3B, PTPN1, PIK3CA, PTPN11, CDKN3
31genistein45 29 60 2 11 2413.5CDKN3, HRAS, MAP2K1, PIK3R1, RAF1, AKT1
32testosterone45 60 11 2411.5GSK3B, PIK3CA, AKT1, MAP2K1, CDKN3, RAF1
33atp45 299.4PIK3R1, BRAF, PIK3CA, MAP2K1, HRAS, PTPN11
34progesterone45 60 29 11 2412.3GSK3B, HRAS, BRAF, PIK3R1, PIK3CA, DSP
35alanine458.2RAF1, GSK3B, BRAF, AKT1, MAP2K1, CDKN3
36rapamycin458.2ACP1, MAP2K1, PIK3CA, AKT1, CDKN3, PTPN11
37h2o2458.2ACP1, RAF1, HRAS, PTPN11, PTPN1, AKT1
38cisplatin45 50 60 1111.1CDKN3, BRAF, PIK3CA, AKT1, MAP2K1, HRAS
39inositol458.1GSK3B, GAB1, PIK3R1, PIK3CA, AKT1, ACP1
40lipid458.1SOS1, PIK3CA, AKT1, GAB1, PTPN1, PTPN11
41retinoic acid45 249.0HRAS, CDKN3, DSP, PIK3CA, BRAF, JUP
42phosphotyrosine457.7CDKN3, HRAS, RAF1, ACP1, PTPN11, PTPN1
43ly294002457.7PIK3CA, HRAS, RAF1, PTPN11, AKT1, MAP2K1
44wortmannin457.5BRAF, GAB1, PIK3R1, PIK3CA, AKT1, MAP2K2
45phosphoinositide457.5GAB1, PIK3R1, PIK3CA, AKT1, MAP2K2, MAP2K1
46vegf457.4CDKN3, HRAS, MAP2K1, RAF1, AKT1, PTPN11
47threonine456.9BRAF, GAB1, PIK3R1, GSK3B, PIK3CA, AKT1
48phosphatidylinositol456.7PIK3CA, PIK3R1, GAB1, SOS1, BRAF, AKT1
49serine456.1SOS1, BRAF, JUP, GAB1, PIK3R1, GSK3B
50tyrosine456.1PTPN1, PTPN11, ACP1, RAF1, HRAS, CDKN3

GO Terms for genes affiliated with Leopard Syndrome

Sources:
16Gene Ontology
See all sources

Cellular components related to Leopard Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
11-phosphatidylinositol-4-phosphate 3-kinase, class IA complexGO:00594310.0PIK3R1, PIK3CA
2phosphatidylinositol 3-kinase complexGO:00594210.0PIK3CA, PIK3R1
3internal side of plasma membraneGO:0098989.5JUP, MAP2K2, ACP1
4perinuclear region of cytoplasmGO:0484718.7GSK3B, HRAS, CDKN3, MAP2K1, MAP2K2
5plasma membraneGO:0058867.5JUP, BRAF, SOS1, PIK3R1, PIK3CA, AKT1
6nucleusGO:0056346.7JUP, BRAF, CSRNP3, AKT1, SHOC2, NFATC4
7cytosolGO:0058296.7GSK3B, JUP, BRAF, SOS1, GAB1, PIK3R1

Biological processes related to Leopard Syndrome according to GeneCards/GeneDecks:

(show all 36)
idNameGO IDScoreTop Affiliating Genes
1regulation of Golgi inheritanceGO:09017010.3MAP2K1, MAP2K2
2regulation of early endosome to late endosome transportGO:200064110.3MAP2K1, MAP2K2
3regulation of stress-activated MAPK cascadeGO:03287210.2MAP2K2, MAP2K1
4bundle of His cell to Purkinje myocyte communicationGO:08606910.1JUP, DSP
5striated muscle cell differentiationGO:05114610.1AKT1, HRAS
6protein heterooligomerizationGO:05129110.0HRAS, MAP2K1, JUP
7negative regulation of protein complex assemblyGO:03133310.0RAF1, GSK3B
8MAPK cascadeGO:00016510.0MAP2K2, MAP2K1, HRAS, RAF1
9labyrinthine layer developmentGO:0607119.9GAB1, MAP2K1
10insulin-like growth factor receptor signaling pathwayGO:0480099.9AKT1, PIK3R1
11peptidyl-tyrosine dephosphorylationGO:0353359.9CDKN3, PTPN11, PTPN1
12phosphatidylinositol phosphorylationGO:0468549.9PIK3R1, PIK3CA
13activation of MAPKK activityGO:0001869.8BRAF, MAP2K2, MAP2K1, HRAS, RAF1
14T cell costimulationGO:0312959.8PTPN11, AKT1, PIK3CA, PIK3R1
15organ morphogenesisGO:0098879.7GSK3B, HRAS, BRAF
16leukocyte migrationGO:0509009.7SOS1, PIK3R1, PIK3CA, HRAS, PTPN11
17heart developmentGO:0075079.7GAB1, NFATC4, RAF1, PTPN11
18small GTPase mediated signal transductionGO:0072649.6BRAF, SOS1, MAP2K2, MAP2K1, HRAS, RAF1
19activation of MAPK activityGO:0001879.5PTPN11, MAP2K1, MAP2K2
20positive regulation of peptidyl-serine phosphorylationGO:0331389.5BRAF, PIK3CA, AKT1, RAF1, GSK3B
21Ras protein signal transductionGO:0072659.5SOS1, SHOC2, MAP2K2, MAP2K1, HRAS, RAF1
22platelet activationGO:0301689.4SOS1, PIK3R1, PIK3CA, AKT1, RAF1, PTPN1
23negative regulation of apoptotic processGO:0430669.3BRAF, PIK3R1, AKT1, RAF1, GSK3B
24cell proliferationGO:0082839.3GAB1, AKT1, MAP2K1, HRAS, RAF1
25protein phosphorylationGO:0064689.3BRAF, PIK3R1, AKT1, MAP2K2, RAF1, GSK3B
26axon guidanceGO:0074119.2SOS1, MAP2K2, MAP2K1, HRAS, RAF1, PTPN11
27positive regulation of apoptotic processGO:0430659.2SOS1, CSRNP3, PIK3R1, AKT1, NFATC4
28blood coagulationGO:0075969.0SOS1, PIK3R1, PIK3CA, AKT1, HRAS, RAF1
29phosphatidylinositol-mediated signalingGO:0480158.9GAB1, PIK3R1, PIK3CA, AKT1, PTPN11, GSK3B
30positive regulation of transcription from RNA polymerase II promoterGO:0459448.7CSRNP3, PIK3R1, AKT1, NFATC4, HRAS, GSK3B
31insulin receptor signaling pathwayGO:0082868.0MAP2K2, MAP2K1, HRAS, RAF1, PTPN11, PTPN1
32Fc-epsilon receptor signaling pathwayGO:0380957.9SOS1, GAB1, PIK3R1, PIK3CA, AKT1, MAP2K2
33epidermal growth factor receptor signaling pathwayGO:0071737.9SOS1, GAB1, PIK3R1, PIK3CA, AKT1, MAP2K2
34innate immune responseGO:0450877.9SOS1, GAB1, PIK3R1, PIK3CA, AKT1, MAP2K2
35neurotrophin TRK receptor signaling pathwayGO:0480117.7GSK3B, PTPN11, BRAF, SOS1, GAB1, PIK3R1
36fibroblast growth factor receptor signaling pathwayGO:0085437.4BRAF, SOS1, GAB1, PIK3R1, PIK3CA, AKT1

Molecular functions related to Leopard Syndrome according to GeneCards/GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1Ras GTPase bindingGO:01701610.0RAF1, MAP2K1
2insulin receptor bindingGO:00515810.0PIK3R1, PTPN11, PTPN1
3insulin receptor substrate bindingGO:04356010.0PTPN11, PIK3CA, PIK3R1
4protein serine/threonine kinase activator activityGO:04353910.0MAP2K2, MAP2K1
5non-membrane spanning protein tyrosine phosphatase activityGO:00472610.0PTPN11, ACP1
6protein phosphatase bindingGO:0199039.8SHOC2, PIK3R1, JUP
7kinase activityGO:0163019.7GSK3B, AKT1, PIK3CA
8protein kinase activityGO:0046729.7BRAF, AKT1, MAP2K1, RAF1
9protein tyrosine phosphatase activityGO:0047259.5PTPN1, PTPN11, CDKN3
10protein serine/threonine kinase activityGO:0046748.9BRAF, PIK3CA, AKT1, MAP2K2, MAP2K1, RAF1
11ATP bindingGO:0055248.4BRAF, PIK3CA, AKT1, MAP2K2, MAP2K1, RAF1
12protein bindingGO:0055155.7GSK3B, JUP, BRAF, SOS1, GAB1, PIK3R1

Products for genes affiliated with Leopard Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Leopard Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet