Weber Syndrome malady

MalaCards: Weber Syndrome, also known as midbrain stroke syndromes, is related to sturge-weber syndrome and klippel-trenaunay syndrome. An important gene associated with Weber Syndrome is ENG (endoglin), and among its related pathways is Molecular Mechanisms of Cancer. The compounds pioglitazone and ly294002 have been mentioned in the context of this disorder. Affiliated tissues include brain, and related mouse phenotypes are craniofacial and hematopoietic system.

weber syndrome 30 43 midbrain stroke syndromes 30

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

(show top 50)    (show all 245)

id	Related Disease	Score	Top Affiliating Genes
1	sturge-weber syndrome	32.3	VEGFA, RASA1, FN1, TP53, CYP1B1
2	klippel-trenaunay syndrome	30.5	SERPINC1, RASA1, ACVRL1
3	retinal detachment	27.7	VEGFA, FN1, SST
4	glaucoma	26.3	VEGFA, FN1, IGF2, TP53, CYP1B1
5	retinitis	23.4	SERPINC1, VEGFA, RASA1, FN1, IGF2, TP53
6	hereditary hemorrhagic telangiectasia type 2	13.5	ENG, ACVRL1
7	hereditary hemorrhagic telangiectasia	13.4	ENG, ACVRL1
8	arteriovenous malformation	13.4	ENG, ACVRL1
9	telangiectasis	13.4	ENG, ACVRL1
10	vitreous detachment	13.1	VEGFA, FN1
11	basaloid squamous cell carcinoma	13.0	ENG, TP53
12	skin papilloma	13.0	VEGFA, TP53
13	maxillary sinus squamous cell carcinoma	13.0	VEGFA, TP53
14	granulosa cell tumor of the ovary	13.0	VEGFA, TP53
15	gastrointestinal neuroendocrine tumor	13.0	VEGFA, SST
16	subependymal giant cell astrocytoma	12.9	TP53, SST
17	hypertensive nephropathy	12.9	VEGFA, SST
18	orbit embryonal rhabdomyosarcoma	12.9	IGF2, ACVRL1
19	hyperinsulinemic hypoglycemia	12.9	IGF2, SST
20	hepatopulmonary syndrome	12.9	VEGFA, ENG, ACVRL1
21	pituitary carcinoma	12.8	TP53, SST
22	choroid plexus papilloma	12.8	IGF2, TP53
23	persistent hyperinsulinemic hypoglycemia of infancy	12.8	IGF2, SST
24	hypoglycemia of infancy	12.8	IGF2, SST
25	tongue cancer	12.8	VEGFA, ENG, TP53
26	protein-losing enteropathy	12.8	TP53, SST
27	pancreatic islet cell tumors	12.8	IGF2, SST
28	angiosarcoma	12.8	VEGFA, ENG, TP53
29	atypical teratoid rhabdoid tumor	12.7	IGF2, TP53
30	cork-handlers' disease	12.7	VEGFA, FN1, CYP1B1
31	ovarian endometriosis	12.7	VEGFA, TP53, CYP1B1
32	serous cystadenocarcinoma	12.7	VEGFA, TP53
33	ductal carcinoma in situ	12.7	VEGFA, ENG, TP53
34	retinal vascular occlusion	12.7	SERPINC1, VEGFA
35	binswanger's disease	12.7	SERPINC1, SST
36	central retinal vein occlusion	12.6	SERPINC1, VEGFA
37	connective tissue disease	12.6	FN1, TP53, ACVRL1
38	kidney cancer	12.6	VEGFA, TP53, CYP1B1
39	hereditary leiomyomatosis and renal cell cancer	12.6	VEGFA, ENG, IGF2
40	diabetic macular edema	12.6	VEGFA, SST
41	paraganglioma	12.6	ENG, IGF2, SST
42	t-cell prolymphocytic leukemia	12.6	VEGFA, TP53
43	laryngeal cancer	12.5	VEGFA, TP53, CYP1B1
44	growth hormone secreting pituitary adenoma	12.5	VEGFA, SST
45	aplastic anemia	12.5	VEGFA, FN1, TP53
46	sickle cell disease	12.5	VEGFA, FN1, ENG, ACVRL1
47	von hippel-lindau disease	12.5	VEGFA, TP53, SST
48	cystadenoma	12.5	VEGFA, TP53, SST
49	gastroduodenitis	12.5	VEGFA, TP53, SST
50	vascular malformations	12.5	VEGFA, ENG, TP53, ACVRL1

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to weber syndrome:

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MGI Mouse Phenotypes related to weber syndrome:

²⁵ (show all 11)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	craniofacial phenotype	MP:0005382	10.1	ACVRL1, RASA1
2	hematopoietic system phenotype	MP:0005397	9.4	ACVRL1, IGF2, ENG
3	embryogenesis phenotype	MP:0005380	9.3	RASA1, ACVRL1, SERPINC1
4	limbs/digits/tail phenotype	MP:0005371	8.7	IGF2, FN1, RASA1, VEGFA
5	growth/size phenotype	MP:0005378	8.5	RASA1, ENG, TP53, SST, ACVRL1
6	liver/biliary system phenotype	MP:0005370	8.4	SERPINC1, VEGFA, TP53, ACVRL1
7	muscle phenotype	MP:0005369	8.1	TP53, IGF2, FN1, VEGFA, ACVRL1, ENG
8	normal phenotype	MP:0002873	7.6	FN1, ENG, TP53, VEGFA, SST, ACVRL1
9	cardiovascular system phenotype	MP:0005385	7.1	VEGFA, ACVRL1, TP53, IGF2, ENG, FN1
10	nervous system phenotype	MP:0003631	6.7	TP53, ACVRL1, SST, SERPINC1, IGF2, FN1
11	homeostasis/metabolism phenotype	MP:0005376	6.3	CYP1B1, TP53, SERPINC1, VEGFA, FN1, ENG

Articles related to weber syndrome:

id	Title	Authors	Year	Affiliating Genes
1	Detection of RASA1 mutations in patients with sporadi c Sturge-Weber syndrome. (20821215)	Zhou Q.... Qin Z.P.	2011	RASA1
2	Sturge-Weber syndrome with congenital glaucoma and cy tochrome P450 (CYP1B1) gene mutations. (20051892)	Tanwar M.... Dada R.	2010	CYP1B1
3	Resolution of persistent exudative retinal detachment in a case of Sturge-Weber syndrome with anti-VEGF administration. (19657986)	Paulus Y.M.... Moshfeghi D.M.	2009	VEGFA
4	Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. (18446851)	Revencu N.... Vikkula M.	2008	RASA1
5	Increased fibronectin expression in sturge-weber syndrome fibroblasts and brain tissue. (12621118)	Comi A.M.... Pevsner J.	2003	FN1
6	Predominance of brain tumors in an extended Li-Fraume ni (SBLA) kindred, including a case of Sturge-Weber syndrome. (10640978)	Lynch H.T.... Steg R.E.	2000	TP53
7	Relaxation of insulin-like growth factor 2 imprinting and discordant methylation at KvDMR1 in two first cousins affected by Beckwith-Wiedemann and Klippel-Trenaunay-Weber syndromes. (10712200)	Sperandeo M.P.... Riccio A.	2000	IGF2
8	Severe hemorrhage complicating the Klippel-TrAcnaunay-Weber syndrome. (9824196)	Aronoff D.M.... Roshon M.	1998	SERPINC1
9	Successful management of visceral Klippel-Trenaunay-Weber syndrome with the antifibrinolytic agent tranexamic acid (cyclocapron): a case report. (9544137)	Katsaros D.... Grundfest-Broniatowski S.	1998	SST

Genes related to weber syndrome according to GeneCards:

(show all 12)

id	Symbol	Description	Score	GeneCards Section Context
1	ENG	endoglin	11.1	Summaries, Aliases & Descriptions
2	RASA1	RAS p21 protein activator (GTPase activating protein) 1	11.1	Summaries, Publications
3	KTWS	Klippel-Trenaunay-Weber syndrome	11.1	Aliases & Descriptions
4	ACVRL1	activin A receptor type II-like 1	11.1	Summaries
5	ORW3	Osler-Rendu-Weber syndrome 3	11.1	Aliases & Descriptions
6	FN1	fibronectin 1	11.0	Publications
7	CYP1B1	cytochrome P450, family 1, subfamily B, polypeptide 1	11.0	Publications
8	VEGFA	vascular endothelial growth factor A	11.0	Publications
9	TP53	tumor protein p53	11.0	Publications
10	SST	somatostatin	11.0	Publications
11	SERPINC1	serpin peptidase inhibitor, clade C (antithrombin), member 1	11.0	Publications
12	IGF2	insulin-like growth factor 2 (somatomedin A)	11.0	Publications

Pathways related to weber syndrome according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Molecular Mechanisms of Cancer36	8.5	RASA1, FN1, IGF2, TP53, ACVRL1

Compounds related to weber syndrome according to GeneDecks:

(show all 46)

id	Compound	Score	Top Affiliating Genes
1	pioglitazone32 9 9	12.0	VEGFA, FN1
2	ly29400232	9.9	FN1, VEGFA
3	pge232	9.9	SST, FN1
4	ellipticine32	9.9	TP53, CYP1B1
5	aristolochic acid32	9.8	TP53, FN1
6	hyaluronic acid32 18	10.7	FN1, ENG
7	polybrene32	9.7	FN1, SERPINC1
8	aprotinin32 9 9	11.6	FN1, SERPINC1
9	Dalteparin9 9	10.6	VEGFA, SERPINC1
10	p00232	9.5	IGF2, ENG, CYP1B1
11	n acetylcysteine32	9.5	SERPINC1, TP53
12	3,3-diindolylmethane32	9.5	VEGFA, TP53
13	oxaliplatin32 34 9 9	12.5	CYP1B1, TP53, VEGFA
14	pegvisomant32 9 9	11.5	IGF2, SST
15	docetaxel32 34 9 9	12.4	CYP1B1, TP53, VEGFA
16	tgf beta132	9.4	FN1, ACVRL1, IGF2, ENG
17	irinotecan32 34 9 9	12.3	TP53, IGF2, VEGFA
18	vinblastine32 9 9	11.3	FN1, SST, TP53
19	gabexate mesilate32	9.3	SST, SERPINC1
20	resveratrol32 9 18 9	12.3	TP53, CYP1B1, VEGFA
21	octreotide32 42 9 9	12.3	VEGFA, SST, IGF2
22	carboplatin32 34 9 9	12.2	SST, TP53, VEGFA
23	ibmx32	9.2	FN1, SST, IGF2
24	caffeine32 34 9 18 9	13.2	SST, TP53, CYP1B1
25	mg 13232 42	10.2	VEGFA, TP53, CYP1B1
26	progestin32	9.1	SERPINC1, IGF2, VEGFA
27	polyethylene glycol32	9.1	IGF2, SERPINC1, FN1
28	actinomycin d32	8.9	TP53, IGF2, FN1, VEGFA
29	genistein32 9 18 9	11.9	FN1, VEGFA, SST, CYP1B1
30	rapamycin32 42	9.8	IGF2, SST, FN1, VEGFA
31	imatinib32 34 9 9	11.8	IGF2, VEGFA, FN1
32	oligonucleotide32	8.8	IGF2, ACVRL1, CYP1B1, TP53, ENG
33	paraffin32	8.7	ENG, VEGFA, TP53, IGF2, FN1
34	doxorubicin32 34 9 9	11.7	SST, CYP1B1, ENG, FN1, TP53
35	cisplatin32 34 9 9	11.7	FN1, TP53, IGF2, VEGFA
36	prostacyclin32	8.7	FN1, SERPINC1, VEGFA, IGF2
37	paclitaxel32 34 9 9	11.6	TP53, CYP1B1, VEGFA, IGF2, FN1
38	5fluorouracil32	8.4	TP53, VEGFA, IGF2, CYP1B1, SST
39	tamoxifen32 34 9 9	11.2	CYP1B1, TP53, IGF2, VEGFA, SERPINC1
40	retinoic acid32 42 18	10.0	FN1, IGF2, SST, CYP1B1, TP53
41	cycloheximide32	8.0	TP53, SST, CYP1B1, FN1, VEGFA, IGF2
42	arginine32	7.7	RASA1, IGF2, SST, TP53, FN1, SERPINC1
43	estrogen32	7.5	IGF2, CYP1B1, ENG, FN1, VEGFA, SERPINC1
44	dexamethasone32 42 34 9 9	11.4	FN1, SERPINC1, VEGFA, SST, CYP1B1, IGF2
45	serine32	7.4	CYP1B1, SERPINC1, TP53, RASA1, FN1, ENG
46	vegf32	7.0	VEGFA, SERPINC1, SST, TP53, ACVRL1, IGF2

Cellular components related to weber syndrome according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	extracellular space	GO:005615	7.4	SERPINC1, VEGFA, FN1, ENG, IGF2, SST

Biological processes related to weber syndrome according to GeneDecks:

(show all 9)

id	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of BMP signaling pathway	GO:030513	9.9	ENG, ACVRL1
2	retina vasculature development in camera-type eye	GO:061298	9.9	CYP1B1, ACVRL1
3	vasculogenesis	GO:001570	9.6	ENG, RASA1, VEGFA
4	regulation of cell shape	GO:008360	9.4	FN1, VEGFA, RASA1
5	positive regulation of protein phosphorylation	GO:001934	9.3	VEGFA, ENG, IGF2
6	transforming growth factor beta receptor signaling pathway	GO:007179	9.3	ENG, ACVRL1, TP53
7	positive regulation of peptidyl-tyrosine phosphorylation	GO:050731	9.1	TP53, IGF2, VEGFA
8	angiogenesis	GO:001525	9.1	VEGFA, FN1, CYP1B1, ACVRL1
9	blood coagulation	GO:007596	8.0	TP53, FN1, VEGFA, SERPINC1

Molecular functions related to weber syndrome according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	activin binding	GO:048185	9.9	ENG, ACVRL1
2	transforming growth factor beta binding	GO:050431	9.8	ENG, ACVRL1
3	transforming growth factor beta-activated receptor activity	GO:005024	9.6	ENG, ACVRL1
4	heparin binding	GO:008201	8.8	SERPINC1, VEGFA, FN1