Leopard Syndrome malady

NIH Rare Diseases: 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.³⁰

MalaCards: Leopard Syndrome, also known as multiple lentigines syndrome, is related to nevus and neurofibromatosis-noonan syndrome. An important gene associated with Leopard Syndrome is RAF1 (v-raf-1 murine leukemia viral oncogene homolog 1), and among its related pathways are Development_Endothelin-1/EDNRA signaling and Signal transduction_PTEN pathway. The compounds threonine and sb 203580 have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and skin, and related mouse phenotypes are endocrine/exocrine gland and respiratory system.

Genetics Home Reference: 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.¹⁷

Wikipedia: LEOPARD syndrome (also known as Cardiocutaneous syndrome, Gorlin syndrome II, Lentiginosis profusa...⁴⁴ more...

GeneReviews summary for leopard

Aliases & Descriptions:

leopard syndrome 6 7 15 30 16 17 8 32 43 multiple lentigines syndrome 15 30 16 17 cardiomyopathic lentiginosis 15 30 16 progressive cardiomyopathic lentiginosis 6 17 moynahan syndrome 6 17 lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, deafness 30 capute-rimoin-konigsmark-esterly-richardson syndrome 6 alopecia epilepsy oligophrenia syndrome of moynahan 43 progressive cardiomyopathic lentiginosis syndrome 43 deafness, autosomal dominant 1 (disorder) 43 noonan syndrome with multiple lentigines 17

multiple lentigines syndrome (disorder) 6 generalized lentiginosis (disorder) 6 lentiginosis profusa syndrome 6 basal cell nevus syndrome 43 cardio-cutaneous syndrome 17 cardiocutaneous syndrome 6 lentiginosis profusa 17 diffuse lentiginosis 17 gorlin syndrome ii 6 noonan syndrome 43

Disease types for leopard syndrome family:

leopard syndrome 3	leopard syndrome 2
leopard syndrome 1

Diseases related to leopard syndrome by text searches and GeneDecks gene sharing:

(show top 50)    (show all 216)

id	Related Disease	Score	Top Affiliating Genes
1	nevus	34.8	PIK3CA, BRAF, HRAS, NF1
2	neurofibromatosis-noonan syndrome	32.5	PTPN11, NF1
3	juvenile myelomonocytic leukemia	30.1	PTPN11, NF1
4	naxos disease	29.5	JUP, DSP
5	noonan-like/multiple giant cell lesion syndrome	29.1	PTPN11, SOS1
6	costello syndrome	29.0	BRAF, MAP2K2, MAP2K1, HRAS, PTPN11, SHOC2
7	was-related disorders	28.6	BRAF, RAF1, FBN1, MAP2K2, MAP2K1, HRAS
8	hypertrophic cardiomyopathy	28.3	BRAF, RAF1, MAP2K2, MAP2K1, HRAS, PTPN11
9	medulloblastoma	28.0	PIK3CA, PIK3R1, JUP, GSK3B, MAP2K2, MAP2K1
10	congenital heart defect	28.0	PIK3CA, PTPN11, ACP1, DSP
11	meningioma	27.8	JUP, CDKN3, MAP2K1, AKT1, NF1, DSP
12	neurofibromatosis	27.6	AKT1, NF1, ACP1
13	myeloproliferative disorder	27.1	HRAS, PTPN11, NF1
14	myelomonocytic leukemia	27.1	BRAF, RAF1, CDKN3, PTPN11, NF1, SOS1
15	short stature	27.1	BRAF, RAF1, FBN1, MAP2K2, MAP2K1, HRAS
16	cardiofaciocutaneous syndrome	27.0	BRAF, RAF1, MAP2K2, MAP2K1, HRAS, PTPN11
17	hepatoblastoma	26.1	PIK3CA, GSK3B, MAP2K1, AKT1, PTPN11
18	rhabdomyosarcoma	26.0	JUP, CDKN3, MAP2K2, MAP2K1, HRAS, AKT1
19	acute lymphoblastic leukemia	25.9	PIK3CA, BRAF, CDKN3, HRAS, AKT1, PTPN11
20	lymphoblastic leukemia	25.8	PIK3CA, BRAF, CDKN3, HRAS, AKT1, PTPN11
21	hodgkin's lymphoma	25.8	PIK3CA, PIK3R1, BRAF, RAF1, CDKN3, HRAS
22	noonan syndrome	25.6	BRAF, RAF1, JUP, FBN1, MAP2K2, MAP2K1
23	retinitis	25.2	PIK3CA, BRAF, CDKN3, MAP2K1, HRAS, AKT1
24	twinning	25.1	PIK3R1, GSK3B, AKT1, PTPN11, NF1
25	acute myeloid leukemia	23.7	PIK3CA, PIK3R1, BRAF, RAF1, JUP, CDKN3
26	myeloid leukemia	23.5	PIK3CA, PIK3R1, BRAF, RAF1, JUP, CDKN3
27	carcinoma	23.4	PIK3CA, PIK3R1, BRAF, RAF1, JUP, CDKN3
28	leukemia	22.4	PIK3CA, PIK3R1, BRAF, RAF1, JUP, CDKN3
29	melanoma	21.6	PIK3CA, PIK3R1, BRAF, RAF1, JUP, CDKN3
30	spitz nevus	13.4	BRAF, HRAS
31	dilated cardiomyopathy with woolly hair and keratoderma	13.4	JUP, DSP
32	bubonic plague	13.4	CDKN3, PTPN1, ACP1
33	pulmonary valve stenosis	13.3	MAP2K2, PTPN11, SOS1
34	developmental disabilities	13.2	BRAF, RAF1, HRAS, PTPN11
35	nonsmall cell lung cancer, somatic	13.2	PIK3CA, BRAF
36	follicular adenoma	13.2	BRAF, JUP, HRAS
37	polycystic kidney disease, autosomal dominant	13.2	BRAF, RAF1, FBN1
38	plague	13.2	CDKN3, PTPN1, PTPN11, ACP1
39	orbit embryonal rhabdomyosarcoma	13.2	JUP, CDKN3, HRAS
40	anthrax disease	13.1	BRAF, MAP2K2, MAP2K1
41	lung cancer, somatic	13.1	PIK3CA, BRAF
42	penile cancer	13.1	PIK3CA, HRAS
43	arrhythmogenic right ventricular dysplasia	13.1	JUP, DSP
44	overnutrition	13.1	CDKN3, AKT1
45	estrogen resistance	13.1	RAF1, HRAS, AKT1
46	bilateral breast cancer	13.1	PIK3CA, CDKN3, ACP1
47	mongolian spot	13.0	JUP, DSP
48	progressive myoclonus epilepsy	13.0	CDKN3, GSK3B, ACP1
49	kidney cancer	12.9	PIK3CA, BRAF, RAF1
50	myoclonus epilepsy	12.9	CDKN3, GSK3B, ACP1

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to leopard syndrome:

²²

MGI Mouse Phenotypes related to leopard syndrome:

²⁵ (show all 23)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	endocrine/exocrine gland phenotype	MP:0005379	10.1	NF1
2	respiratory system phenotype	MP:0005388	9.4	FBN1, NF1, SHOC2
3	skeleton phenotype	MP:0005390	9.2	PTPN11, PTPN1, AKT1, HRAS, RAF1, BRAF
4	liver/biliary system phenotype	MP:0005370	9.1	NF1, AKT1, GSK3B
5	no phenotypic analysis	MP:0003012	9.0	PTPN11, HRAS, FBN1, PIK3R1, SOS1
6	digestive/alimentary phenotype	MP:0005381	8.9	GAB1, SOS1, NFATC4, MAP2K1, MAP2K2, BRAF
7	hematopoietic system phenotype	MP:0005397	8.8	CSRNP3, NFATC4, NF1, FBN1, BRAF
8	immune system phenotype	MP:0005387	8.3	CSRNP3, ACP1, NF1, PTPN11, FBN1, JUP
9	adipose tissue phenotype	MP:0005375	7.8	PTPN11, PTPN1, AKT1, FBN1, BRAF, PIK3R1
10	craniofacial phenotype	MP:0005382	7.7	GAB1, SOS1, NFATC4, NF1, PTPN11, MAP2K1
11	vision/eye phenotype	MP:0005391	7.5	GAB1, SOS1, NF1, PTPN11, MAP2K1, MAP2K2
12	tumorigenesis	MP:0002006	7.4	NF1, PTPN11, AKT1, HRAS, BRAF, PIK3R1
13	normal phenotype	MP:0002873	7.3	SHOC2, NF1, PTPN11, AKT1, HRAS, MAP2K2
14	nervous system phenotype	MP:0003631	7.2	NFATC4, NF1, PTPN11, AKT1, HRAS, FBN1
15	integument phenotype	MP:0010771	6.4	PTPN11, NF1, SHOC2, DSP, SOS1, GAB1
16	muscle phenotype	MP:0005369	6.4	GAB1, SOS1, NFATC4, NF1, PTPN11, AKT1
17	behavior/neurological phenotype	MP:0005386	6.2	GAB1, NFATC4, NF1, PTPN1, AKT1, HRAS
18	embryogenesis phenotype	MP:0005380	5.5	NFATC4, SHOC2, DSP, SOS1, CSRNP3, GAB1
19	cardiovascular system phenotype	MP:0005385	5.5	PTPN11, NF1, NFATC4, SHOC2, SOS1, GAB1
20	cellular phenotype	MP:0005384	5.2	PTPN11, NF1, NFATC4, ACP1, DSP, SOS1
21	mortality/aging	MP:0010768	5.1	NF1, NFATC4, SHOC2, DSP, SOS1, CSRNP3
22	homeostasis/metabolism phenotype	MP:0005376	4.7	AKT1, PTPN1, PTPN11, NF1, SHOC2, SOS1
23	growth/size phenotype	MP:0005378	4.0	PIK3CA, PTPN11, NF1, NFATC4, SHOC2, ACP1

Articles related to leopard syndrome:

(show all 35)

id	Title	Authors	Year	Affiliating Genes
1	Phosphatase-dependent and -independent functions of S hp2 in neural crest cells underlie LEOPARD syndrome pathogenesis. (20493809)	Stewart R.A.... Neel B.G.	2010	PTPN1
2	Functional effects of PTPN11 (SHP2) mutations causing LEOPARD syndrome on epidermal growth factor-induced phosphoinositide 3-kinase/ AKT/glycogen synthase kinase 3beta signaling. (20308328)	Edouard T.... Raynal P.	2010	AKT1, GSK3B, PTPN11
3	LEOPARD syndrome with recurrent PTPN11 mutation Y279C and different cutaneous manifestations: two case reports and a review of the l iterature. (19768645)	Kalev I.... Ounap K.	2010	PTPN11
4	IMAGE CARDIO MED. A patient with LEOPARD syndrome and PTPN11 mutation. (19273734)	Lehmann L.H.... Katus H.A.	2009	PTPN11
5	Multiple granular cell tumors are an associated feature of LEOPARD syndrome caused by mutation in PTPN11. (19054014)	Schrader K.A.... McGillivray B.C.	2009	PTPN11
6	PTPN11 mutations in LEOPARD syndrome: report of four cases in Taiwan. (19864201)	Lin I.S.... Lin S.J.	2009	PTPN11
7	Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development. (18849586)	Oishi K.... Gelb B.D.	2009	PTPN11
8	Phenotype-genotype correlation in a patient with co-o ccurrence of Marfan and LEOPARD syndromes. (19725129)	Tang S.... Matsuoka R.	2009	PTPN11, FBN1
9	Coronary artery dilatation in LEOPARD syndrome. A child case and literature review. (19207402)	Iwasaki Y.... Matsuoka R.	2009	PTPN11
10	Novel BRAF mutation in a patient with LEOPARD syndrom e and normal intelligence. (19416762)	Koudova M.... Zenker M.	2009	BRAF
11	Visual function in Noonan and LEOPARD syndrome. (19568997)	Alfieri P.... Mercuri E.	2008	PTPN11
12	Common acute lymphoblastic leukemia in a girl with genetically confirmed LEOPARD syndrome. (18799937)	Laux D.... Sauerbrey A.	2008	PTPN11
13	Genotype-phenotype analysis and natural history of left ventricular hypertrophy in LEOPARD syndrome. (18241070)	Limongelli G.... Calabro R.	2008	RAF1, PTPN11
14	Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes. (18372317)	Martinelli S.... Tartaglia M.	2008	PTPN11
15	Malignant melanoma in a woman with LEOPARD syndrome: identification of a germline PTPN11 mutation and a somatic BRAF mutation. (17927788)	Seishima M.... Ogata T.	2007	PTPN11
16	A novel PTPN11 gene mutation in a patient with LEOPARD Syndrome. (17875892)	Du-Thanh A.... Dereure O.	2007	PTPN11
17	LEOPARD syndrome with partly normal skin and sex chromosome mosaicism. (17935252)	Writzl K.... Hennekam R.C.	2007	PTPN11
18	Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. (17603483)	Pandit B.... Gelb B.D.	2007	RAF1, HRAS, MAP2K1
19	Acute myelomonocytic leukemia in a boy with LEOPARD syndrome (PTPN11 gene mutation positive). (16679933)	Ucar C.... Heinritz W.	2006	PTPN11
20	Reduced phosphatase activity of SHP-2 in LEOPARD syndrome: consequences for PI3K binding on Gab1. (16638574)	Hanna N.... Raynal P.	2006	PTPN11, PIK3R1, GAB1
21	Is sudden cardiac death predictable in LEOPARD syndrome? (17116277)	Limongelli G.... CalabrA^ R.	2006	PTPN11
22	LEOPARD syndrome: clinical diagnosis in the first year of life. (16523510)	Digilio M.C.... Dallapiccola B.	2006	PTPN11
23	PTPN11 gene mutations: linking the Gln510Glu mutation to the 'LEOPARD syndrome phenotype'. (16733669)	Digilio M.C.... Dallapiccola B.	2006	PTPN11
24	PTPN11 mutations and genotype-phenotype correlations in Noonan and LEOPARD syndromes. (16208280)	Ogata T.... Yoshida R.	2005	PTPN11, ACP1
25	PTPN11 gene mutation in LEOPARD syndrome (16172598)	Paradisi M.... Angelo C.	2005	PTPN11
26	Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11. (15690106)	Kalidas K.... Jeffery S.	2005	PTPN11
27	Familial aggregation of genetically heterogeneous hypertrophic cardiomyopathy: a boy with LEOPARD syndrome due to PTPN11 mutation and his nonsyndromic father lacking PTPN11 mutations. (14991917)	Digilio M.C.... Dallapiccola B.	2004	PTPN11
28	Two novel and one recurrent PTPN11 mutations in LEOPARD syndrome. (15389709)	Yoshida R.... Ogata T.	2004	PTPN11
29	A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndrome. (15470362)	Sarkozy A.... Dallapiccola B.	2004	PTPN11
30	PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience. (15520399)	Keren B.... Cave H.	2004	PTPN11
31	Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome. (15121796)	Sarkozy A.... Dallapiccola B.	2004	PTPN11
32	A novel PTPN11 mutation in LEOPARD syndrome. (14961557)	Conti E.... Dallapiccola B.	2003	PTPN11
33	Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes. (12960218)	Sarkozy A.... Dallapiccola B.	2003	PTPN11
34	PTPN11 mutations in LEOPARD syndrome. (12161596)	Legius E.... Fryns J.P.	2002	PTPN11
35	Neurofibromatosis type I gene mutation in a patient with features of LEOPARD syndrome. (8807336)	Wu R.... Fryns J.-P.	1996	NF1

Genes related to leopard syndrome according to GeneCards:

(show all 22)

id	Symbol	Description	Score	GeneCards Section Context
1	RAF1	v-raf-1 murine leukemia viral oncogene homolog 1	11.1	Publications, Summaries
2	PTPN11	protein tyrosine phosphatase, non-receptor type 11	11.0	Publications
3	ACP1	acid phosphatase 1, soluble	11.0	Publications
4	HRAS	v-Ha-ras Harvey rat sarcoma viral oncogene homolog	11.0	Publications
5	CDKN3	cyclin-dependent kinase inhibitor 3	11.0	Publications
6	BRAF	v-raf murine sarcoma viral oncogene homolog B1	11.0	Publications
7	NFATC4	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	11.0
8	MAP2K2	mitogen-activated protein kinase kinase 2	11.0	Publications
9	GAB1	GRB2-associated binding protein 1	11.0	Publications
10	PTPN1	protein tyrosine phosphatase, non-receptor type 1	11.0	Publications
11	SOS1	son of sevenless homolog 1 (Drosophila)	11.0	Publications
12	SHOC2	soc-2 suppressor of clear homolog (C. elegans)	11.0
13	CSRNP3	cysteine-serine-rich nuclear protein 3	11.0
14	JUP	junction plakoglobin	11.0
15	DSP	desmoplakin	11.0
16	FBN1	fibrillin 1	11.0	Publications
17	MAP2K1	mitogen-activated protein kinase kinase 1	11.0	Publications
18	PIK3R1	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	11.0	Publications
19	AKT1	v-akt murine thymoma viral oncogene homolog 1	11.0	Publications
20	NF1	neurofibromin 1	11.0	Publications
21	PIK3CA	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	11.0	Publications
22	GSK3B	glycogen synthase kinase 3 beta	11.0	Publications

Pathways related to leopard syndrome according to GeneDecks:

(show top 50)    (show all 354)

id	Pathway	Score	Top Affiliating Genes
1	Development_Endothelin-1/EDNRA signaling41	10.4	HRAS, SOS1
2	Signal transduction_PTEN pathway41	10.4	GSK3B
3	Renal cell carcinoma20	9.4	PIK3R1, RAF1, MAP2K2, HRAS, SOS1, GAB1
4	Development_Growth hormone signaling via PI3K/AKT and MAPK cascades41	9.4	PTPN11, SOS1, HRAS, MAP2K1, PIK3R1
5	Cytoskeleton remodeling FAK signaling10	9.3	RAF1, GSK3B, MAP2K2, MAP2K1, HRAS
6	Development Dopamine D2 receptor transactivation of EGFR10	8.9	PIK3CA, HRAS, AKT1, SOS1
7	Translation Insulin regulation of translation10	8.9	PIK3R1, RAF1, GSK3B, MAP2K2, SOS1
8	ErbB2-ErbB3 Heterodimers36	8.8	PIK3R1, RAF1, GSK3B, MAP2K2, MAP2K1, SOS1
9	NGF Pathway36	8.7	PIK3R1, BRAF, RAF1, MAP2K2, MAP2K1, HRAS
10	Cell adhesion PLAU signaling10	8.4	RAF1, HRAS, SOS1, GAB1, PIK3R1, PIK3CA
11	BDNF Pathway36	8.4	PIK3R1, RAF1, MAP2K2, MAP2K1, HRAS, AKT1
12	Development IGF-RI signaling10	8.2	PIK3CA, PIK3R1, RAF1, MAP2K1, HRAS, AKT1
13	TREM1 Pathway36	8.2	NFATC4, SOS1, AKT1, HRAS, MAP2K1, PIK3R1
14	TRKA Signaling36	8.2	PIK3R1, BRAF, RAF1, MAP2K2, MAP2K1, HRAS
15	EGF Pathway36	8.1	PIK3R1, BRAF, RAF1, MAP2K2, MAP2K1, HRAS
16	IL-4 Pathway36	7.9	PIK3R1, BRAF, RAF1, GSK3B, MAP2K2, MAP2K1
17	ErbB Family Pathway36	7.9	AKT1, SOS1, HRAS, MAP2K1, MAP2K2, PIK3R1
18	Development_Dopamine D2 receptor transactivation of EGFR41	7.8	SOS1, AKT1, HRAS, PIK3CA, PIK3R1, RAF1
19	Development VEGF-family signaling10	7.8	AKT1, SOS1, HRAS, MAP2K1, MAP2K2, PIK3CA
20	Natural killer cell mediated cytotoxicity20	7.7	PIK3CA, PIK3R1, BRAF, RAF1, MAP2K2, MAP2K1
21	IGF1R Signaling36	7.7	NFATC4, SOS1, AKT1, HRAS, MAP2K1, PIK3R1
22	Apoptosis and survival_BAD phosphorylation41	7.7	MAP2K2, MAP2K1, HRAS, AKT1, PTPN11, SOS1
23	Development_VEGF-family signaling41	7.6	PIK3R1, RAF1, MAP2K2, MAP2K1, HRAS, AKT1
24	Endometrial cancer20	7.6	PIK3CA, PIK3R1, BRAF, RAF1, MAP2K2, MAP2K1
25	Glioma20	7.6	AKT1, SOS1, HRAS, MAP2K1, MAP2K2, PIK3CA
26	Immune response_Fc epsilon RI pathway41	7.6	PIK3CA, PIK3R1, RAF1, MAP2K2, MAP2K1, HRAS
27	Cell adhesion_PLAU signaling41	7.6	PIK3CA, PIK3R1, RAF1, MAP2K2, MAP2K1, HRAS
28	Apoptosis and survival BAD phosphorylation10	7.5	PIK3CA, PIK3R1, RAF1, MAP2K2, MAP2K1, HRAS
29	Development Prolactin receptor signaling10	7.5	PIK3CA, PIK3R1, RAF1, MAP2K2, MAP2K1, HRAS
30	Development CNTF receptor signaling10	7.5	PIK3CA, PIK3R1, RAF1, MAP2K2, MAP2K1, HRAS
31	Immune response Fc epsilon RI pathway10	7.5	MAP2K1, HRAS, AKT1, NFATC4, SOS1, MAP2K2
32	Immune response IL-2 activation and signaling pathway10	7.5	SOS1, PTPN11, AKT1, HRAS, PIK3CA, PIK3R1
33	Development_FGF-family signaling41	7.4	SOS1, GAB1, PTPN11, PIK3CA, PIK3R1, RAF1
34	Chronic myeloid leukemia20	7.4	PIK3CA, PIK3R1, BRAF, RAF1, MAP2K2, MAP2K1
35	Development_Prolactin receptor signaling41	7.4	HRAS, AKT1, PTPN11, SOS1, MAP2K1, MAP2K2
36	Development FGFR signaling pathway10	7.3	RAF1, MAP2K2, MAP2K1, HRAS, AKT1, PTPN11
37	Development Flt3 signaling10	7.3	HRAS, AKT1, PTPN11, SOS1, GAB1, MAP2K1
38	Glioblastoma Multiforme36	7.3	MAP2K2, MAP2K1, HRAS, AKT1, NF1, SOS1
39	Development Endothelin-1/EDNRA signaling10	7.2	PIK3CA, PIK3R1, RAF1, GSK3B, MAP2K2, MAP2K1
40	Immune response IL-4 signaling pathway10	7.1	PIK3CA, PIK3R1, RAF1, GSK3B, MAP2K2, MAP2K1
41	T cell receptor signaling pathway20	7.1	RAF1, GSK3B, MAP2K2, MAP2K1, HRAS, AKT1
42	B cell receptor signaling pathway20	7.1	HRAS, AKT1, NFATC4, SOS1, MAP2K1, MAP2K2
43	Prostate cancer20	7.1	PIK3CA, PIK3R1, BRAF, RAF1, GSK3B, MAP2K2
44	Cytoskeleton remodeling_FAK signaling41	7.1	AKT1, SOS1, HRAS, MAP2K1, MAP2K2, PIK3CA
45	Development_IGF-1 receptor signaling41	7.1	PIK3CA, PIK3R1, RAF1, GSK3B, MAP2K2, MAP2K1
46	Development_FGFR signaling pathway41	7.0	PIK3CA, PIK3R1, RAF1, MAP2K2, MAP2K1, HRAS
47	Immune response_IL-4 signaling pathway41	6.9	PIK3CA, PIK3R1, RAF1, GSK3B, MAP2K2, MAP2K1
48	Signal transduction PTEN pathway10	6.8	SOS1, PIK3CA, PIK3R1, RAF1, GSK3B, MAP2K2
49	Development_EGFR signaling pathway41	6.6	SOS1, AKT1, HRAS, MAP2K1, PIK3CA, PIK3R1
50	Development_VEGF signaling via VEGFR2 - generic cascades41	6.5	PIK3CA, PIK3R1, RAF1, GSK3B, MAP2K2, MAP2K1

Compounds related to leopard syndrome according to GeneDecks:

(show top 50)    (show all 124)

id	Compound	Score	Top Affiliating Genes
1	threonine32	10.5	MAP2K2, RAF1
2	sb 20358032 42	11.2	BRAF, PTPN11, ACP1
3	glucose32	10.1	GAB1, BRAF
4	sodium stibogluconate32 9 9	12.1	PTPN11, CDKN3, ACP1
5	inositol32	10.0	GSK3B, PTPN11, ACP1
6	phenylalanine32	10.0	GAB1, PIK3R1
7	sodium orthovanadate32	9.8	RAF1, PTPN11, ACP1, CDKN3
8	vanadate32	9.5	PTPN11, CDKN3, MAP2K1, PTPN1, ACP1
9	h2o232	9.4	PIK3R1, CDKN3, MAP2K1, PTPN1, PTPN11
10	17-(allylamino)-17-demethoxygeldanamycin32	9.3	MAP2K1, AKT1, RAF1, BRAF
11	gp 13032	9.2	MAP2K1, HRAS, GAB1, PIK3R1, PTPN11
12	12-o-tetradecanoylphorbol 13-acetate32	9.1	DSP, ACP1, MAP2K1, RAF1, BRAF
13	herbimycin a32 42	10.0	PTPN11, AKT1, HRAS, MAP2K1, RAF1, CDKN3
14	rapamycin32 42	10.0	HRAS, RAF1, ACP1, NF1, BRAF, AKT1
15	aspartate32	8.9	AKT1, HRAS, BRAF, PIK3R1, RAF1
16	cytochalasin d32 42	9.9	RAF1, AKT1, PTPN1, NF1, CDKN3, ACP1
17	ptdins(3)p32	8.8	PIK3R1, CDKN3, PIK3CA, AKT1
18	ag 147832	8.7	PIK3CA, RAF1, AKT1, PTPN11, MAP2K1
19	cysteine32	8.5	AKT1, HRAS, NF1, RAF1, FBN1, MAP2K1
20	etoposide32 42 9 9	11.5	PIK3CA, PTPN11, ACP1, CDKN3, PIK3R1, AKT1
21	phosphatidylinositol-3,4,5-trisphosphate32 18	9.4	PIK3CA, PIK3R1, AKT1, PTPN11, GAB1, CDKN3
22	imatinib32 34 9 9	11.4	PTPN1, RAF1, MAP2K1, BRAF, PIK3R1, PIK3CA
23	okadaic acid32 42	9.3	MAP2K1, PTPN1, ACP1, CDKN3, PIK3CA, PIK3R1
24	forskolin32 42 9 9	11.2	PIK3R1, RAF1, GSK3B, MAP2K1, PTPN11, NF1
25	paclitaxel32 34 9 9	11.1	BRAF, MAP2K1, HRAS, JUP, AKT1, RAF1
26	genistein32 9 18 9	10.9	MAP2K1, HRAS, RAF1, CDKN3, PIK3CA, PIK3R1
27	pd 98,05932	7.8	MAP2K1, PIK3CA, PIK3R1, RAF1, HRAS, BRAF
28	glutamate32	7.8	PIK3CA, AKT1, BRAF, MAP2K1, PTPN11, ACP1
29	cisplatin32 34 9 9	10.7	BRAF, MAP2K1, ACP1, PTPN11, AKT1, HRAS
30	agar32	7.6	PIK3R1, PTPN11, MAP2K1, JUP, RAF1, AKT1
31	gtp32	7.6	BRAF, RAF1, PIK3CA, PIK3R1, SOS1, AKT1
32	glycogen32 18	8.5	GSK3B, CDKN3, AKT1, PTPN1, PTPN11, PIK3R1
33	phosphotyrosine32	7.5	PIK3CA, PIK3R1, RAF1, JUP, CDKN3, MAP2K1
34	calcium32 9 18 9	10.5	PTPN11, NF1, NFATC4, DSP, HRAS, PTPN1
35	dexamethasone32 42 34 9 9	11.4	ACP1, PTPN11, AKT1, JUP, RAF1, PIK3R1
36	testosterone32 9 18 9	10.3	CDKN3, MAP2K1, AKT1, PTPN1, PIK3CA, PIK3R1
37	ly29400232	7.3	CDKN3, ACP1, PTPN11, AKT1, HRAS, MAP2K1
38	alanine32	7.2	AKT1, PTPN11, PTPN1, NF1, ACP1, MAP2K1
39	wortmannin32 42	8.1	MAP2K2, MAP2K1, HRAS, AKT1, PTPN11, ACP1
40	arginine32	7.1	PTPN1, MAP2K1, PIK3CA, BRAF, FBN1, HRAS
41	phosphoinositide32	7.1	AKT1, PIK3CA, BRAF, RAF1, CDKN3, MAP2K2
42	vegf32	7.0	PTPN11, PIK3CA, BRAF, AKT1, HRAS, RAF1
43	atp32	6.9	GSK3B, PIK3CA, PIK3R1, BRAF, NF1, PTPN11
44	progesterone32 42 9 18 9	10.9	DSP, PIK3CA, PIK3R1, HRAS, GSK3B, FBN1
45	retinoic acid32 42 18	8.5	JUP, ACP1, RAF1, BRAF, CDKN3, FBN1
46	lipid32	6.2	PIK3CA, PIK3R1, GSK3B, FBN1, HRAS, PTPN1
47	estrogen32	6.2	PTPN1, NF1, HRAS, ACP1, FBN1, MAP2K1
48	phosphatidylinositol32	5.4	PIK3CA, PIK3R1, BRAF, RAF1, CDKN3, GSK3B
49	tyrosine32	4.4	JUP, GSK3B, FBN1, MAP2K2, MAP2K1, HRAS
50	serine32	4.4	PIK3CA, PIK3R1, BRAF, RAF1, JUP, CDKN3

Cellular components related to leopard syndrome according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	internal side of plasma membrane	GO:009898	9.6	ACP1, MAP2K2, JUP
2	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	GO:005943	9.2	PIK3CA, PIK3R1
3	plasma membrane	GO:005886	6.8	DSP, PTPN1, AKT1, HRAS, MAP2K1, GSK3B
4	cytoplasm	GO:005737	6.3	ACP1, SHOC2, NFATC4, NF1, PTPN11, AKT1
5	cytosol	GO:005829	5.5	PIK3CA, GAB1, SOS1, NFATC4, PTPN11, PTPN1

Biological processes related to leopard syndrome according to GeneDecks:

(show all 29)

id	Name	GO ID	Score	Top Affiliating Genes
1	activation of MAPKK activity	GO:000186	10.4	RAF1, MAP2K2
2	regulation of early endosome to late endosome transport	GO:2000641	10.1	MAP2K1, MAP2K2
3	regulation of Golgi inheritance	GO:090170	10.1	MAP2K1, MAP2K2
4	peptidyl-tyrosine dephosphorylation	GO:035335	10.1	CDKN3, PTPN1, PTPN11
5	labyrinthine layer development	GO:060711	10.0	GAB1, MAP2K1
6	regulation of stress-activated MAPK cascade	GO:032872	9.9	MAP2K1, MAP2K2
7	regulation of synaptic transmission, GABAergic	GO:032228	9.7	NF1, HRAS
8	wound healing	GO:042060	9.5	RAF1, NF1, DSP
9	negative regulation of protein complex assembly	GO:031333	9.5	RAF1, GSK3B
10	positive regulation of Ras GTPase activity	GO:032320	9.4	MAP2K1, NF1
11	small GTPase mediated signal transduction	GO:007264	9.3	SOS1, HRAS, MAP2K1, MAP2K2, RAF1, BRAF
12	MAPK cascade	GO:000165	9.2	NF1, HRAS, MAP2K1, MAP2K2, RAF1
13	cell proliferation	GO:008283	9.2	GAB1, AKT1, HRAS, MAP2K1, RAF1
14	heart development	GO:007507	9.2	GAB1, NFATC4, NF1, FBN1, RAF1
15	protein phosphorylation	GO:006468	9.0	AKT1, MAP2K2, GSK3B, RAF1, BRAF
16	leukocyte migration	GO:050900	8.9	SOS1, PTPN11, HRAS, PIK3R1, PIK3CA
17	axon guidance	GO:007411	8.8	SOS1, PTPN11, HRAS, MAP2K1, MAP2K2, GSK3B
18	T cell costimulation	GO:031295	8.8	PTPN11, AKT1, PIK3R1, PIK3CA
19	apoptotic process	GO:006915	8.8	RAF1, HRAS, AKT1, DSP, SOS1, CSRNP3
20	Ras protein signal transduction	GO:007265	8.7	SOS1, SHOC2, NF1, HRAS, MAP2K1, MAP2K2
21	positive regulation of peptidyl-serine phosphorylation	GO:033138	8.6	AKT1, GSK3B, RAF1, BRAF, PIK3CA
22	phosphatidylinositol-mediated signaling	GO:048015	8.4	PIK3CA, PIK3R1, GSK3B, AKT1
23	platelet activation	GO:030168	8.3	SOS1, PTPN1, AKT1, RAF1, PIK3R1, PIK3CA
24	anti-apoptosis	GO:006916	8.3	AKT1, GSK3B, BRAF, PIK3CA
25	blood coagulation	GO:007596	8.0	SOS1, PTPN11, PTPN1, AKT1, HRAS, RAF1
26	insulin receptor signaling pathway	GO:008286	7.1	PTPN11, PTPN1, AKT1, HRAS, MAP2K1, MAP2K2
27	nerve growth factor receptor signaling pathway	GO:048011	6.9	SOS1, PIK3CA, PTPN11, AKT1, HRAS, MAP2K1
28	epidermal growth factor receptor signaling pathway	GO:007173	6.8	GAB1, SOS1, PTPN11, AKT1, HRAS, MAP2K1
29	fibroblast growth factor receptor signaling pathway	GO:008543	6.3	PTPN11, AKT1, HRAS, MAP2K1, MAP2K2, GSK3B

Molecular functions related to leopard syndrome according to GeneDecks:

(show all 9)

id	Name	GO ID	Score	Top Affiliating Genes
1	non-membrane spanning protein tyrosine phosphatase activity	GO:004726	9.8	ACP1, PTPN11
2	protein serine/threonine kinase activator activity	GO:043539	9.7	MAP2K1, MAP2K2
3	insulin receptor binding	GO:005158	9.7	PIK3R1, PTPN1, PTPN11
4	protein phosphatase binding	GO:019903	9.4	PIK3R1, JUP, SHOC2
5	insulin receptor substrate binding	GO:043560	9.2	PTPN11, PIK3R1, PIK3CA
6	protein kinase activity	GO:004672	9.2	BRAF, RAF1, MAP2K1, AKT1
7	kinase activity	GO:016301	8.7	AKT1, GSK3B, PIK3CA
8	protein serine/threonine kinase activity	GO:004674	7.8	AKT1, MAP2K1, MAP2K2, GSK3B, RAF1, BRAF
9	protein binding	GO:005515	4.1	PIK3CA, AKT1, PTPN1, PTPN11, NF1, ACP1