MCID: LPR002
MIFTS: 72

Leopard Syndrome malady

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

Summaries for Leopard Syndrome

About this section
Sources:
21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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

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

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

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

About this section
Sources:
46OMIM, 48Orphanet
See all sources

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

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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

About this section
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

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Leopard Syndrome:

32
Skin, Heart, Eye, Lung, Endothelial

Animal Models for Leopard Syndrome or affiliated genes

About this section
Sources:
36MGI
See all sources

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

About this section
Sources:
50PubMed
See all sources

Articles related to Leopard Syndrome:

(show top 50)    (show all 127)
idTitleAuthorsYear
1
Leopard syndrome: a report of five cases from one family in two generations. (24401936)
2014
2
Syndromic Hearing Loss in Association with PTPN11-Related Disorder: The Experience of Cochlear Implantation in a Child with LEOPARD Syndrome. (23799168)
2013
3
Structural and mechanistic insights into LEOPARD syndrome-associated SHP2 mutations. (23457302)
2013
4
RASopathies: From Noonan to LEOPARD Syndrome. (23830833)
2013
5
LEOPARD Syndrome: A Variant of Noonan Syndrome Strongly Associated With Hypertrophic Cardiomyopathy. (23312806)
2013
6
Extensive abdominal lipomatosis in a patient with Noonan/LEOPARD syndrome (Noonan syndrome-Multiple Lentigines). (22528600)
2012
7
Implantable cardioverter defibrillator for progressive hypertrophic cardiomyopathy in a patient with LEOPARD syndrome and a novel PTPN11 mutation Gln510His. (21910226)
2011
8
Phosphatase-dependent and -independent functions of Shp2 in neural crest cells underlie LEOPARD syndrome pathogenesis. (20493809)
2010
9
Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome. (20535210)
2010
10
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
11
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. (19206169)
2009
12
Leopard syndrome and hypertrophic cardiomyopathy: an association related to sudden death. (19629299)
2009
13
Walker-Warburg Syndrome Manifesting as Leopard Spot Retinopathy, Retinal Detachment, and Microphthalmia. (19791710)
2009
14
PTPN11 mutations in LEOPARD syndrome: report of four cases in Taiwan. (19864201)
2009
15
Common acute lymphoblastic leukemia in a girl with genetically confirmed LEOPARD syndrome. (18799937)
2008
16
Leopard syndrome. (18505544)
2008
17
LEOPARD syndrome: what are cafAc noir spots? (18789084)
2008
18
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. (17603483)
2007
19
Mucosal lesions can occur in leopard syndrome. (17786123)
2007
20
The LEOPARD syndrome: a rare condition associated with hypertrophic cardiomyopathy. (17660347)
2007
21
Prevalence and clinical significance of cardiovascular abnormalities in patients with the LEOPARD syndrome. (17697839)
2007
22
Acute myelomonocytic leukemia in a boy with LEOPARD syndrome (PTPN11 gene mutation positive). (16679933)
2006
23
Diffuse coronary dilation in a young patient with LEOPARD syndrome. (16904216)
2006
24
Aortic root dilatation with redundancy of mitral and aortic leaflets associated with the LEOPARD syndrome. (16000228)
2006
25
Congenital intrahepatic portosystemic venous shunt: an unusual feature in LEOPARD syndrome and in neurofibromatosis type 1. (15669093)
2005
26
PTPN11 gene mutation in LEOPARD syndrome]. (16172598)
2005
27
Anaesthetic implications of LEOPARD syndrome. (15078383)
2004
28
A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndrome. (15470362)
2004
29
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
30
Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome. (15121796)
2004
31
Intense pulsed light for the treatment of lentigines in LEOPARD syndrome. (12946381)
2003
32
PTPN11 mutations in LEOPARD syndrome. (12161596)
2002
33
The dental management of a child with LEOPARD syndrome. (11310102)
2000
34
Neurofibromatosis-Noonan syndrome or LEOPARD Syndrome? A clinical dilemma. (11013475)
2000
35
Leopard syndrome--report of a variant case. (10863481)
1999
36
Leopard syndrome. (10551509)
1999
37
Familial occurrence of the LEOPARD syndrome. (9522241)
1998
38
Cardiomyopathic lentiginosis/LEOPARD syndrome presenting as sudden cardiac arrest. (9596329)
1998
39
Leopard syndrome with staphylococcal infective endocarditis and stroke in young. (11229257)
1998
40
Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis). (9222968)
1997
41
LEOPARD syndrome (cardiocutaneous lentiginosis syndrome). (8727768)
1996
42
LEOPARD syndrome associated with steatocystoma multiplex and hyperelastic skin. Report of a Japanese case. (8578962)
1995
43
Multiple lentigines (Leopard) syndrome with Chiara I malformation. (7560446)
1995
44
LEOPARD syndrome: death because of chronic respiratory insufficiency. (2260561)
1990
45
Leopard syndrome. (6519808)
1984
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

About this section

Expression for genes affiliated with Leopard Syndrome

About this section
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

About this section
Sources:
37NCBI BioSystems Database, 49PharmGKB, 59Tocris Bioscience, 51QIAGEN, 12EMD Millipore, 53Reactome, 29KEGG, 52R&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
28.8SOS1, 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
8.6AKT1, SOS1, PIK3CA, HRAS, MAP2K2, MAP2K1
7
Hide members
8.5HRAS, PIK3R1, MAP2K1, MAP2K2, GAB1, SOS1
8
G-protein signaling Ras family GTPases in kinase cascades (scheme)
Hide members
8.5PTPN11, RAF1, HRAS, MAP2K1, MAP2K2, AKT1
9
Development A2B receptor- action via G-protein alpha s
Hide members
8.4PIK3CA, MAP2K2, MAP2K1, HRAS, GSK3B, SOS1
10
Transcription Androgen Receptor nuclear signaling
Hide members
8.4PIK3R1, SOS1, GSK3B, PIK3CA, AKT1, MAP2K1
11
Hide members
8.4RAF1, HRAS, MAP2K1, MAP2K2, PIK3CA, PIK3R1
12
Hide members
8.4PIK3CA, AKT1, PIK3R1, SOS1, MAP2K2, HRAS
13
Hide members
8.4PIK3CA, PIK3R1, SOS1, PTPN11, RAF1, HRAS
14
Immune response IL-2 activation and signaling pathway
Hide members
8.4RAF1, PTPN11, MAP2K1, MAP2K2, HRAS, SOS1
15
Development Dopamine D2 receptor transactivation of EGFR
Hide members
8.4PIK3R1, SOS1, PIK3CA, AKT1, MAP2K2, MAP2K1
168.3AKT1, GSK3B, PTPN11, RAF1, HRAS, MAP2K1
178.3MAP2K2, AKT1, PIK3R1, SOS1, BRAF, MAP2K1
18
Hide members
8.2MAP2K1, MAP2K2, PIK3CA, PIK3R1, GAB1, SOS1
19
Hide members
8.2PTPN11, RAF1, HRAS, MAP2K1, MAP2K2, AKT1
20
Hide members
8.2PTPN11, RAF1, HRAS, MAP2K1, MAP2K2, AKT1
21
Hide members
8.2PTPN11, RAF1, HRAS, MAP2K1, MAP2K2, AKT1
22
Cell adhesion Integrin-mediated cell adhesion and migration
Hide members
8.2PIK3R1, RAF1, SOS1, GSK3B, HRAS, MAP2K1
23
Development EPO-induced Jak-STAT pathway
Hide members
8.1MAP2K1, MAP2K2, AKT1, PIK3R1, GAB1, SOS1
24
Hide members
8.1RAF1, HRAS, MAP2K1, BRAF, AKT1, PIK3R1
258.1BRAF, SOS1, GAB1, GSK3B, PTPN11, RAF1
26
Hide members
8.1AKT1, PIK3CA, GAB1, SOS1, MAP2K2, MAP2K1
27
Hide members
8.1MAP2K2, NFATC4, AKT1, PIK3R1, SOS1, BRAF
28
Hide members
8.1BRAF, GSK3B, RAF1, HRAS, MAP2K1, MAP2K2
298.0RAF1, MAP2K1, MAP2K2, AKT1, PIK3CA, PIK3R1
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
34
Hide members
7.7MAP2K1, MAP2K2, AKT1, PIK3CA, PIK3R1, SOS1
357.7SOS1, MAP2K2, AKT1, PIK3CA, PIK3R1, BRAF
367.7PTPN11, RAF1, HRAS, MAP2K1, MAP2K2, AKT1
37
Hide members
7.7PIK3R1, GAB1, SOS1, PIK3CA, AKT1, GSK3B
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
7.5MAP2K2, AKT1, PIK3CA, PIK3R1, GAB1, SOS1
43
Hide members
7.5RAF1, HRAS, MAP2K1, MAP2K2, AKT1, PIK3CA
44
Hide members
7.5GSK3B, RAF1, HRAS, MAP2K1, MAP2K2, AKT1
45
Hide members
7.5MAP2K2, AKT1, PIK3CA, PIK3R1, GAB1, SOS1
46
Hide members
7.5AKT1, PIK3CA, PIK3R1, GAB1, SOS1, MAP2K2
477.3MAP2K2, AKT1, PIK3CA, PIK3R1, GAB1, SOS1
48
Hide members
7.3HRAS, MAP2K1, MAP2K2, NFATC4, AKT1, PIK3R1
49
Hide members
7.1RAF1, HRAS, MAP2K1, MAP2K2, AKT1, PIK3CA
50
Translation Insulin regulation of translation
Hide members
6.9PTPN11, RAF1, HRAS, MAP2K1, MAP2K2, NFATC4

Compounds for genes affiliated with Leopard Syndrome

About this section
Sources:
44Novoseek, 11DrugBank, 28IUPHAR, 24HMDB, 59Tocris Bioscience, 49PharmGKB, 2BitterDB
See all sources

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

About this section
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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Leopard Syndrome

About this section
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