Pulmonary Valve Stenosis malady

Wikipedia: Pulmonary valve stenosis is a heart valve disorder in which outflow of blood from the right ventricle of...⁴⁴ more...

MalaCards: Pulmonary Valve Stenosis, also known as pulmonary stenosis, cause unspecified (disorder), is related to tetralogy of fallot and noonan syndrome. An important gene associated with Pulmonary Valve Stenosis is JAG1 (jagged 1), and among its related pathways are Development_Leptin signaling via JAK/STAT and MAPK cascades and Development Leptin signaling via JAK/STAT and MAPK cascades. The drug alprostadil has been mentioned in the context of this disorder. Affiliated tissues include heart and lung, and related mouse phenotypes are muscle and craniofacial.

Aliases & Descriptions:

pulmonary valve stenosis 6 30 8 32 43 pulmonary stenosis, cause unspecified (disorder) 6 pulmonic valve stenosis (disorder) 6 heart valve pulmonary stenosis 30 valvular pulmonary stenosis 30

valvate pulmonary stenosis 30 valvar pulmonary stenosis 30 pulmonary stenosis nos 6 pulmonic stenosis nos 6 pulmonary stenosis 43

Diseases related to pulmonary valve stenosis by text searches and GeneDecks gene sharing:

(show all 27)

id	Related Disease	Score	Top Affiliating Genes
1	tetralogy of fallot	29.8	HIRA, JAG1, CLTCL1
2	noonan syndrome	29.2	MAP2K2, PTPN11, SOS1
3	pulmonic stenosis	28.5	JAG1, MAP2K2, PTPN11, ELN
4	leopard syndrome	27.5	SOS1, PTPN11, MAP2K2
5	congenital heart defect	13.0	JAG1, PTPN11
6	noonan-like/multiple giant cell lesion syndrome	12.9	PTPN11, SOS1
7	n syndrome	12.5	PTPN11, ELN
8	aortic valve stenosis	12.5	PDLIM1, ELN
9	supravalvular aortic stenosis	12.5	PDLIM1, ELN
10	cardiofaciocutaneous syndrome	12.4	SOS1, PTPN11, MAP2K2
11	ventricular septal defect	12.2	SLC35B2, HIRA, JAG1, CLTCL1
12	short stature	11.9	SOS1, PTPN11, MAP2K2
13	developmental disabilities	11.9	JAG1, PTPN11, ELN, HIRA
14	mental retardation syndrome	11.7	PTPN11, PDLIM1, ELN
15	costello syndrome	11.6	SOS1, ELN, PTPN11, MAP2K2
16	was-related disorders	11.5	SOS1, ELN, PTPN11, MAP2K2
17	myeloid leukemia	11.3	SOS1, PTPN11, MAP2K2, JAG1, CLTCL1
18	myeloma	11.3	SOS1, PVR, ELN, PTPN11, JAG1
19	breast carcinoma	10.9	JAG1, MAP2K2, PTPN11, ELN, SOS1
20	alagille syndrome	7.4
21	keutel syndrome	7.4
22	watson syndrome	6.9
23	congenitally corrected transposition of the great arteries	6.0
24	hordnes engebretsen knudtson syndrome	6.0
25	pulmonary branches stenosis	6.0
26	pulmonary supravalvular stenosis	6.0
27	calabro syndrome	6.0

Approved drugs:

Drug clinical trials:

Inferred drug relations via UMLS/NDF-RT:

^43 28 alprostadil

MalaCards organs/tissues related to pulmonary valve stenosis:

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MGI Mouse Phenotypes related to pulmonary valve stenosis:

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id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	muscle phenotype	MP:0005369	8.2	JAG1, PTPN11, COL5A3, ELN, SOS1
2	craniofacial phenotype	MP:0005382	7.9	SOS1, HIRA, PTPN11, MAP2K2, JAG1
3	homeostasis/metabolism phenotype	MP:0005376	6.5	JAG1, SOS1, PVR, HIRA, ELN, COL5A3

Articles related to pulmonary valve stenosis:

id	Title	Authors	Year	Affiliating Genes
1	Nonsyndromic pulmonary valve stenosis and the PTPN11 gene. (12522798)	Sarkozy A.... Paoletti V.	2003	PTPN11

Genes related to pulmonary valve stenosis according to GeneCards:

(show all 11)

id	Symbol	Description	Score	GeneCards Section Context
1	JAG1	jagged 1	11.0
2	PTPN11	protein tyrosine phosphatase, non-receptor type 11	11.0	Publications
3	SLC35B2	solute carrier family 35, member B2	11.0	Disorders
4	PDLIM1	PDZ and LIM domain 1	11.0
5	COL5A3	collagen, type V, alpha 3	11.0	Disorders
6	PVR	poliovirus receptor	11.0
7	CLTCL1	clathrin, heavy chain-like 1	11.0
8	MAP2K2	mitogen-activated protein kinase kinase 2	11.0
9	HIRA	HIR histone cell cycle regulation defective homolog A (S. cerevisiae)	11.0
10	ELN	elastin	11.0
11	SOS1	son of sevenless homolog 1 (Drosophila)	11.0

Pathways related to pulmonary valve stenosis according to GeneDecks:

(show all 49)

id	Pathway	Score	Top Affiliating Genes
1	Development_Leptin signaling via JAK/STAT and MAPK cascades41	9.8	SOS1, PTPN11
2	Development Leptin signaling via JAK/STAT and MAPK cascades10	9.7	SOS1, PTPN11
3	Development FGF-family signaling10	9.7	PTPN11, SOS1
4	G-protein signaling_M-RAS regulation pathway41	9.6	SOS1, MAP2K2
5	G-protein signaling M-RAS regulation pathway10	9.6	SOS1, MAP2K2
6	Immune response IL-6 signaling pathway10	9.6	MAP2K2, PTPN11, SOS1
7	OSM Pathway36	9.6	MAP2K2, SOS1
8	Immune response_IL-6 signaling pathway41	9.6	MAP2K2, PTPN11, SOS1
9	Development_CNTF receptor signaling41	9.6	SOS1, PTPN11, MAP2K2
10	Development CNTF receptor signaling10	9.6	SOS1, PTPN11, MAP2K2
11	Development EPO-induced Jak-STAT pathway10	9.6	MAP2K2, PTPN11, SOS1
12	Immune response_IL-3 activation and signaling pathway41	9.6	SOS1, PTPN11, MAP2K2
13	Immune response IL-3 activation and signaling pathway10	9.6	SOS1, PTPN11, MAP2K2
14	Immune response_Role of integrins in NK cells cytotoxicity41	9.6	SOS1, PTPN11, MAP2K2
15	Immune response Role of integrins in NK cells cytotoxicity10	9.6	SOS1, PTPN11, MAP2K2
16	Immune response_Oncostatin M signaling via MAPK in human cells41	9.6	SOS1, PTPN11, MAP2K2
17	Immune response Oncostatin M signaling via MAPK in human cells10	9.6	SOS1, PTPN11, MAP2K2
18	Development_Neurotrophin family signaling41	9.5	SOS1, PTPN11, MAP2K2
19	Development Neurotrophin family signaling10	9.5	SOS1, PTPN11, MAP2K2
20	Development_Flt3 signaling41	9.5	SOS1, PTPN11, MAP2K2
21	Development Flt3 signaling10	9.5	SOS1, PTPN11, MAP2K2
22	Development_FGF-family signaling41	9.5	MAP2K2, PTPN11, SOS1
23	Chemotaxis_CXCR4 signaling pathway41	9.5	SOS1, PTPN11, MAP2K2
24	Chemotaxis CXCR4 signaling pathway10	9.5	SOS1, PTPN11, MAP2K2
25	Development FGFR signaling pathway10	9.5	SOS1, PTPN11, MAP2K2
26	Development_Prolactin receptor signaling41	9.5	SOS1, PTPN11, MAP2K2
27	Development_FGFR signaling pathway41	9.5	SOS1, PTPN11, MAP2K2
28	Development Prolactin receptor signaling10	9.5	SOS1, PTPN11, MAP2K2
29	Immune response_Role of DAP12 receptors in NK cells41	9.5	SOS1, PTPN11, MAP2K2
30	Immune response Role of DAP12 receptors in NK cells10	9.5	SOS1, PTPN11, MAP2K2
31	Immune response_IL-2 activation and signaling pathway41	9.5	SOS1, PTPN11, MAP2K2
32	Immune response IL-2 activation and signaling pathway10	9.5	SOS1, PTPN11, MAP2K2
33	Adipocytokines & Insulin Signaling37	9.5	SOS1, PTPN11, MAP2K2
34	Renal cell carcinoma20	9.5	MAP2K2, PTPN11, SOS1
35	Chronic myeloid leukemia20	9.5	MAP2K2, PTPN11, SOS1
36	MAP Kinase Signaling3	9.4	SOS1, PTPN11, MAP2K2
37	Apoptosis and survival BAD phosphorylation10	9.4	MAP2K2, PTPN11, SOS1
38	Common Cytokine Receptor Gamma-Chain Family Signaling Pathways37	9.4	SOS1, MAP2K2
39	Apoptosis and survival_BAD phosphorylation41	9.4	MAP2K2, PTPN11, SOS1
40	Neurotrophin signaling pathway20	9.4	MAP2K2, PTPN11, SOS1
41	Natural killer cell mediated cytotoxicity20	9.4	SOS1, PTPN11, MAP2K2
42	IL-2 Signaling Pathways37	9.3	SOS1, MAP2K2
43	FAK1 Signaling36	8.7	SOS1, ELN, COL5A3, MAP2K2
44	Integrin Pathway36	8.6	SOS1, ELN, COL5A3, MAP2K2
45	GnRH Signaling36	8.6	MAP2K2, COL5A3, ELN, SOS1
46	PTEN Pathway36	8.5	SOS1, ELN, COL5A3, MAP2K2
47	Phospholipase-C Pathway36	8.5	SOS1, ELN, COL5A3, MAP2K2
48	MAPK Signaling36	8.5	MAP2K2, COL5A3, ELN, SOS1
49	ERK Signaling36	7.9	MAP2K2, COL5A3, ELN, SOS1

Biological processes related to pulmonary valve stenosis according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	fibroblast growth factor receptor signaling pathway	GO:008543	9.1	MAP2K2, PTPN11, SOS1
2	nerve growth factor receptor signaling pathway	GO:048011	9.1	MAP2K2, PTPN11, SOS1
3	epidermal growth factor receptor signaling pathway	GO:007173	9.0	MAP2K2, PTPN11, SOS1
4	insulin receptor signaling pathway	GO:008286	8.8	SOS1, PTPN11, MAP2K2