MCID: LPR002
MIFTS: 72

Leopard Syndrome malady

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

Summaries for Leopard Syndrome

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42NIH Rare Diseases, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 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 hyperkeratosis/ainhum/hyperkeratotic skin fissures, sensorineural deafness/hearing loss and short stature/dwarfism/nanism. 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 skin, heart and eye, 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:63 LEOPARD syndrome (also known as Cardiocutaneous syndrome, Gorlin syndrome II, Lentiginosis profusa... more...

Description from OMIM:46 611554,151100,613707,203600

GeneReviews summary for leopard

Aliases & Classifications for Leopard Syndrome

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8Disease Ontology, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 60UMLS, 48Orphanet, 46OMIM, 39NCIt, 56SNOMED-CT, 34MeSH, 57SNOMED-CT via Orphanet
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Classifications:



Aliases & Descriptions:

leopard syndrome 8 19 42 20 22 21 10 44 60
multiple lentigines syndrome 8 19 42 21
moynahan syndrome 8 21 48 46
cardiomyopathic lentiginosis 19 42 21
progressive cardiomyopathic lentiginosis 8 21
lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, deafnes 42
alopecia-epilepsy-oligophrenia syndrome, moynahan type 48
capute-rimoin-konigsmark-esterly-richardson syndrome 8
alopecia epilepsy oligophrenia syndrome of moynahan 60
progressive cardiomyopathic lentiginosis syndrome 60
noonan syndrome with multiple lentigines 21
lentiginosis profusa syndrome 8
basal cell nevus syndrome 60
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
NCIt39 C84820
MeSH34 D044542
SNOMED-CT via Orphanet57 45167004

Related Diseases for Leopard Syndrome

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17GeneCards, 18GeneDecks
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Diseases in the Leopard Syndrome 1 family:

leopard syndrome Ptpn11-Related Leopard Syndrome
Raf1-Related Leopard Syndrome Braf-Related Leopard Syndrome
Leopard Syndrome 2 Leopard Syndrome 3

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

(show top 50)    (show all 137)
idRelated DiseaseScoreTop Affiliating Genes
1hypertrophic cardiomyopathy30.7PTPN11
2noonan syndrome30.7BRAF, SOS1, SHOC2, MAP2K2, MAP2K1, HRAS
3medulloblastoma30.6JUP, PIK3CA, AKT1, MAP2K1, HRAS
4neurofibromatosis30.4HRAS, RAF1, PTPN11
5adenocarcinoma30.2JUP, BRAF, PIK3R1, PIK3CA, AKT1, MAP2K1
6leukemia30.1PIK3R1, PIK3CA, AKT1, MAP2K1, CDKN3, HRAS
7melanoma30.1PIK3CA, PIK3R1, BRAF, JUP, AKT1, MAP2K1
8congenital heart defect29.9PTPN11, ACP1, DSP, PIK3CA
9nevoid basal cell carcinoma syndrome10.7
10basal cell carcinoma10.6
11familial generalized lentiginosis10.4
12leopard syndrome 110.4
13dysplastic nevus syndrome10.3
14myoblastoma10.3
15leopard syndrome 210.2
16leopard syndrome 310.2
17xeroderma pigmentosum10.2
18brachydactyly10.2
19focal dermal hypoplasia10.2
20ganglioglioma10.2
21infundibulocystic basal cell carcinoma10.2
22pseudopseudohypoparathyroidism10.2
23cholesteatoma10.2
24craniosynostosis10.2
25endometrial adenocarcinoma10.2
26inflammatory bowel disease10.2
27meningioma10.2
28pseudohypoparathyroidism10.2
29basal cell carcinoma, somatic10.2
30granular cell tumor10.1
31familial hypertrophic cardiomyopathy10.1
32acute leukemia10.1
33image syndrome10.1
34ptpn11-related leopard syndrome10.1
35raf1-related leopard syndrome10.1
36braf-related leopard syndrome10.1
37renal agenesis10.1
38alopecia epilepsy oligophrenia syndrome of moynahan10.1
39pancreatitis10.0HRAS
40noonan syndrome 510.0RAF1
41hepatoblastoma10.0MAP2K1
42osteosarcoma10.0MAP2K1
43influenza10.0PTPN11, HRAS
44hepatitis10.0RAF1, SOS1
45neuroblastoma10.0AKT1
46pulmonary valve stenosis10.0PTPN11, SOS1
47hepatitis b10.0RAF1, HRAS
48juvenile myelomonocytic leukemia10.0CDKN3, HRAS, PTPN11
49spitz nevus10.0BRAF, HRAS
50cowden disease10.0PIK3CA, CDKN3

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



Diseases related to leopard syndrome

Clinical Features for Leopard Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

611554,151100,613707,203600

Clinical synopsis from OMIM:

203600

Symptoms:

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

Drugs & Therapeutics for Leopard Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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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

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20GeneTests, 22GTR
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Genetic tests related to Leopard Syndrome:

id Genetic test Affiliating Genes
1 Leopard Syndrome20 22 RAF1

Anatomical Context for Leopard Syndrome

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32MalaCards
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MalaCards organs/tissues related to Leopard Syndrome:

32
Skin, Heart, Eye, Lung, Endothelial

Animal Models for Leopard Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Leopard Syndrome:

36 (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

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50PubMed
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Articles related to Leopard Syndrome:

(show top 50)    (show all 127)
idTitleAuthorsYear
1
LEOPARD syndrome with Wolff-Parkinson-White syndrome on electrocardiography. (24177621)
2013
2
Syndromic Hearing Loss in Association with PTPN11-Related Disorder: The Experience of Cochlear Implantation in a Child with LEOPARD Syndrome. (23799168)
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
Delayed primary diagnosis of LEOPARD syndrome type 1. (23317994)
2013
7
LEOPARD Syndrome Caused by Tyr279Cys Mutation in the PTPN11 Gene. (22822385)
2012
8
LEOPARD syndrome. (22832481)
2012
9
Two cases of LEOPARD syndrome--RAF1 mutations firstly described in children. (22389993)
2011
10
LEOPARD Syndrome with PTPN11 Gene Mutation Showing Six Cardinal Symptoms of LEOPARD. (21747628)
2011
11
An uncommon association between skin lesions and LEOPARD syndrome affected an old patient. Case report. (21657161)
2011
12
Rapamycin reverses hypertrophic cardiomyopathy in a mouse model of LEOPARD syndrome-associated PTPN11 mutation. (21339643)
2011
13
LEOPARD syndrome (PTPN11, T468M) in three boys fulfilling neurofibromatosis type 1 clinical criteria. (21365175)
2011
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
Leopard syndrome and Chiari type I malformation: a case report and review of the literature. (19131856)
2009
18
Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development. (18849586)
2009
19
An unusual cause for recurrent syncope in a female adult with LEOPARD syndrome. (19054021)
2009
20
A novel PTPN11 missense mutation in a patient with LEOPARD syndrome. (19659470)
2009
21
Schizencephaly in LEOPARD syndrome. (19520282)
2009
22
Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence. (19416762)
2009
23
Visual function in Noonan and LEOPARD syndrome. (19568997)
2008
24
Severe cerebral calcification in a case of LEOPARD syndrome. (18981639)
2008
25
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
26
Leopard syndrome. (18627709)
2008
27
LEOPARD syndrome with partly normal skin and sex chromosome mosaicism. (17935252)
2007
28
A novel PTPN11 gene mutation in a patient with LEOPARD Syndrome. (17875892)
2007
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 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects. (16377799)
2006
32
PTPN11 mutations and genotype-phenotype correlations in Noonan and LEOPARD syndromes. (16208280)
2005
33
LEOPARD syndrome: cardiac imaging findings. (15728011)
2005
34
LEOPARD syndrome: a new polyaneurysm association and an update on the molecular genetics of the disease. (15071461)
2004
35
LEOPARD syndrome with a new association of congenital corneal tumor, choristoma. (12657016)
2003
36
Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. (12058348)
2002
37
Oro-dental and craniofacial anomalies in LEOPARD syndrome. (11495198)
2001
38
Flecainide-associated pneumonitis with acute respiratory failure in a patient with the LEOPARD syndrome. (10707759)
2000
39
Leopard syndrome associated with hyperelastic skin: analysis of collagen metabolism in cultured skin fibroblasts. (10449938)
1999
40
LEOPARD syndrome in a patient with morphea and acro-osteolysis. (9677256)
1998
41
Leopard syndrome: a tropical rarity. (9640890)
1998
42
Pigmentary anomalies in the multiple lentigines syndrome: Is it distinct from LEOPARD syndrome? (9122064)
1996
43
Neurofibromatosis type I gene mutation in a patient with features of LEOPARD syndrome. (8807336)
1996
44
LEOPARD syndrome associated with steatocystoma multiplex and hyperelastic skin. Report of a Japanese case. (8578962)
1995
45
Accumulation of membrane-bound melanosomes occurs in Langerhans cells of patients with the Leopard syndrome. (1424250)
1992
46
Spotting heart disease: Leopard syndrome. (3665613)
1987
47
Dermal Merkel cells in the nevus of Ota and leopard syndrome. (6480925)
1984
48
A study of a family with leopard syndrome. (7061405)
1982
49
Leopard syndrome with manic psychosis. (7443958)
1980
50
Giant and "granular melanosomes" in Leopard syndrome: an ultrastructural study. (1018060)
1976

Genetic Variations for Leopard Syndrome

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Expression for genes affiliated with Leopard Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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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

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Sources:
37NCBI BioSystems Database, 49PharmGKB, 59Tocris Bioscience, 51QIAGEN, 12EMD Millipore, 53Reactome, 29KEGG, 52R&D Systems
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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)
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8.5PTPN11, RAF1, HRAS, MAP2K1, MAP2K2, AKT1
10
Development A2B receptor- action via G-protein alpha s
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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
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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
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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
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8.1SOS1, GAB1, PIK3CA, AKT1, PTPN11, RAF1
27
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8.1PIK3R1, SOS1, BRAF, AKT1, NFATC4, GSK3B
28
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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
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7.9PTPN11, RAF1, HRAS, MAP2K1, MAP2K2, AKT1
32
Development Prolactin receptor signaling
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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
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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
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7.5GSK3B, PTPN11, RAF1, HRAS, MAP2K1, MAP2K2
41
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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
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7.5MAP2K2, AKT1, PIK3CA, PIK3R1, GAB1, SOS1
46
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7.5GAB1, SOS1, BRAF, PIK3R1, GSK3B, RAF1
477.3PIK3R1, GAB1, SOS1, GSK3B, PTPN1, PTPN11
48
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7.3AKT1, PIK3R1, GAB1, SOS1, BRAF, JUP
49
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7.1PIK3CA, PIK3R1, GAB1, SOS1, BRAF, AKT1
50
Translation Insulin regulation of translation
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6.9HRAS, MAP2K1, MAP2K2, NFATC4, AKT1, PIK3CA

Compounds for genes affiliated with Leopard Syndrome

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44Novoseek, 11DrugBank, 28IUPHAR, 24HMDB, 59Tocris Bioscience, 49PharmGKB, 2BitterDB
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Compounds related to Leopard Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 134)
idCompoundScoreTop Affiliating Genes
1glutamate4410.4PIK3R1
2sodium stibogluconate44 1111.1ACP1, PTPN11
3cycloheximide4410.0MAP2K2, RAF1
417-(allylamino)-17-demethoxygeldanamycin449.8AKT1, BRAF, MAP2K1, RAF1
5adp44 28 2411.7AKT1, MAP2K2, MAP2K1
6ag 1478449.6PIK3CA, AKT1, MAP2K1, RAF1, PTPN11
7ptdins(3)p449.5PIK3R1, PIK3CA, AKT1, CDKN3
8glucose449.5PIK3CA, MAP2K1, HRAS, AKT1, BRAF
9sodium orthovanadate44 5910.4ACP1, CDKN3, PTPN11, PTPN1, RAF1
10gp 130449.4PTPN11, PIK3R1, MAP2K1, HRAS, GAB1
11imatinib44 49 1111.4PTPN1, PTPN11, RAF1, MAP2K1, PIK3R1, BRAF
12vanadate449.3PTPN1, PTPN11, ACP1, MAP2K1, CDKN3
13phenylalanine449.2PTPN1, PTPN11, HRAS, PIK3R1, GAB1, BRAF
1412-o-tetradecanoylphorbol 13-acetate449.2MAP2K1, ACP1, DSP, BRAF, RAF1, HRAS
15gtp44 2810.2BRAF, AKT1, SOS1, PIK3R1, PIK3CA, RAF1
16paclitaxel44 49 1111.1AKT1, BRAF, JUP, MAP2K1, HRAS, RAF1
17sb 20358044 5910.1RAF1, PIK3R1, AKT1, BRAF, ACP1, PTPN11
18diphenyleneiodonium449.0AKT1, ACP1, CDKN3, PTPN1
19pd 98,059449.0RAF1, MAP2K1, MAP2K2, AKT1, PIK3CA, HRAS
20cytochalasin d44 599.9CDKN3, AKT1, RAF1, ACP1, PTPN1
21herbimycin a44 599.9CDKN3, RAF1, ACP1, PTPN11, HRAS, AKT1
22okadaic acid44 599.9RAF1, MAP2K1, PTPN1, PIK3R1, ACP1, PIK3CA
23phosphatidylinositol-3,4,5-trisphosphate44 249.9GAB1, PIK3R1, PIK3CA, AKT1, CDKN3, PTPN11
24agar448.8RAF1, JUP, BRAF, PIK3R1, PIK3CA, PTPN11
25dexamethasone44 49 28 1111.8MAP2K1, ACP1, RAF1, PIK3CA, AKT1, JUP
26etoposide44 49 59 1111.7PTPN11, PIK3R1, PIK3CA, AKT1, MAP2K1, CDKN3
27aspartate448.7RAF1, AKT1, CDKN3, PIK3R1, ACP1, BRAF
28nmda44 289.7ACP1, AKT1, HRAS, CDKN3, PIK3CA, MAP2K1
29arginine448.7PTPN11, PIK3CA, AKT1, HRAS, ACP1, BRAF
30glycogen44 249.6PIK3R1, GSK3B, PTPN1, PIK3CA, PTPN11, CDKN3
31genistein44 28 59 2 11 2413.5CDKN3, HRAS, MAP2K1, PIK3R1, RAF1, AKT1
32testosterone44 59 11 2411.5GSK3B, PIK3CA, AKT1, MAP2K1, CDKN3, RAF1
33atp44 289.4PIK3R1, BRAF, PIK3CA, MAP2K1, HRAS, PTPN11
34progesterone44 59 28 11 2412.3GSK3B, HRAS, BRAF, PIK3R1, PIK3CA, DSP
35alanine448.2RAF1, GSK3B, BRAF, AKT1, MAP2K1, CDKN3
36rapamycin448.2ACP1, MAP2K1, PIK3CA, AKT1, CDKN3, PTPN11
37h2o2448.2ACP1, RAF1, HRAS, PTPN11, PTPN1, AKT1
38cisplatin44 49 59 1111.1CDKN3, BRAF, PIK3CA, AKT1, MAP2K1, HRAS
39inositol448.1GSK3B, GAB1, PIK3R1, PIK3CA, AKT1, ACP1
40lipid448.1SOS1, PIK3CA, AKT1, GAB1, PTPN1, PTPN11
41retinoic acid44 249.0HRAS, CDKN3, DSP, PIK3CA, BRAF, JUP
42phosphotyrosine447.7CDKN3, HRAS, RAF1, ACP1, PTPN11, PTPN1
43ly294002447.7PIK3CA, HRAS, RAF1, PTPN11, AKT1, MAP2K1
44wortmannin447.5BRAF, GAB1, PIK3R1, PIK3CA, AKT1, MAP2K2
45phosphoinositide447.5GAB1, PIK3R1, PIK3CA, AKT1, MAP2K2, MAP2K1
46vegf447.4CDKN3, HRAS, MAP2K1, RAF1, AKT1, PTPN11
47threonine446.9BRAF, GAB1, PIK3R1, GSK3B, PIK3CA, AKT1
48phosphatidylinositol446.7PIK3CA, PIK3R1, GAB1, SOS1, BRAF, AKT1
49serine446.1SOS1, BRAF, JUP, GAB1, PIK3R1, GSK3B
50tyrosine446.1PTPN1, PTPN11, ACP1, RAF1, HRAS, CDKN3

GO Terms for genes affiliated with Leopard Syndrome

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Sources:
16Gene Ontology
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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

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  • Antibodies
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Sources for Leopard Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet