Telangiectasis malady

Wikipedia: Telangiectasias (pron.: /tɛlˌæn.dʒiː.ɛkˈteɪ.zi.ə/) or angioectasias are small dilated blood...⁴⁴ more...

MalaCards: Telangiectasis, also known as telangiectasia, is related to coats disease and arteriovenous malformation. An important gene associated with Telangiectasis is CTD (Coats disease), and among its related pathways is Molecular Mechanisms of Cancer. The compounds tgf beta1 and threonine have been mentioned in the context of this disorder. Affiliated tissues include retina and skin, and related mouse phenotypes are embryogenesis and cardiovascular system.

Aliases & Descriptions:

telangiectasis 6 8 43 telangiectasia 6 32

Diseases related to telangiectasis by text searches and GeneDecks gene sharing:

(show top 50)    (show all 121)

id	Related Disease	Score	Top Affiliating Genes
1	coats disease	30.1	NDP, CTD
2	arteriovenous malformation	29.1	ENG, ACVRL1
3	hereditary hemorrhagic telangiectasia type 2	27.7	ENG, ACVRL1
4	pulmonary hypertension	26.5	ACVRL1, ENG, APLN, BMPR2, BMP6
5	hereditary hemorrhagic telangiectasia	25.6	OR2AG1, ACVRL1, ENG, BMPR2, BMP6
6	primary pulmonary hypertension	25.6	BMP6, BMPR2, ACVRL1
7	retinitis	24.4	ACVRL1, NDP, CTD, APLN, BMPR2, BMP6
8	hypertension	23.9	ACVRL1, ENG, APLN, ATM, BMPR2, BMP6
9	polyposis	23.7	ACVRL1, ENG, ATM, BMPR2, BMP6
10	hypoxia	22.6	ACVRL1, NDP, ENG, APLN, ATM, BMPR2
11	vascular disease	13.0	SOX18, ACVRL1
12	angiodysplasia	12.9	ENG, ACVRL1
13	klippel-trenaunay syndrome	12.9	NDP, ACVRL1, SOX18
14	weber syndrome	12.8	ENG, ACVRL1
15	vascular malformations	12.6	ENG, ACVRL1
16	mixed connective tissue disease	12.6	BMPR2, CENPB, ACVRL1
17	systemic scleroderma	12.3	BMP6, CENPB, ENG
18	hepatopulmonary syndrome	12.3	ACVRL1, ENG, BMPR2
19	connective tissue disease	12.1	ACVRL1, CENPB, BMPR2, BMP6
20	sickle cell disease	11.9	BMP6, BMPR2, ENG, ACVRL1
21	cork-handlers' disease	11.5	BMP6, BMPR2, ATM
22	galactosemia	11.2	ACVRL1, ENG, APLN, BMPR2, BMP6
23	pancreatic cancer	10.6	SOX18, ACVRL1, ENG, ATM, BMPR2, BMP6
24	breast cancer	8.5
25	nijmegen breakage syndrome	8.0
26	ataxia-telangiectasia-like disorder	7.8
27	hypotrichosis-lymphedema-telangiectasia syndrome	7.0
28	immunodeficiency	7.0
29	carcinoma	6.8
30	hepatitis	6.8
31	juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	6.8
32	leukemia	6.8
33	retinal telangiectasia	6.8
34	epilepsy telangiectasia	6.5
35	early-onset ataxia with oculomotor apraxia and hypoalbuminemia	6.5
36	tempi syndrome	6.5
37	acvrl1-related hereditary hemorrhagic telangiectasia	6.5
38	idiopathic juxtafoveal retinal telangiectasia	6.4
39	ataxia telangiectasia variant v1	6.1
40	crest syndrome	6.1
41	retinal telangiectasia hypogammaglobulinemia	6.1
42	smad4-related hereditary hemorrhagic telangiectasia	6.1
43	was-related disorders	6.1
44	herpes simplex	5.6
45	lung cancer	5.6
46	melanoma	5.6
47	mental retardation arachnodactyly hypotonia telangiectasia	5.6
48	neurodegeneration	5.6
49	neuronitis	5.6
50	pulmonary arteriovenous malformation	5.6

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to telangiectasis:

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MGI Mouse Phenotypes related to telangiectasis:

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id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	embryogenesis phenotype	MP:0005380	7.6	PINX1, BMPR2, ATM, APLN, ENG, ACVRL1
2	cardiovascular system phenotype	MP:0005385	7.2	SOX18, ACVRL1, NDP, ENG, APLN, BMPR2
3	growth/size phenotype	MP:0005378	6.0	PINX1, SOX18, ACVRL1, ENG, APLN, ATM

Articles related to telangiectasis:

id	Title	Authors	Year	Affiliating Genes
1	Syndrome of premature ageing in ataxia-telangiectasi a patients (19799357)	Polubot'ko E.A.... Spivak I.M.	2009	ATM
2	Clinical features of pulmonary arterial hypertension in young people with an ALK1 mutation and hereditary haemorrhagic telangiectasi a. (19357124)	Smoot L.B.... Mullen M.P.	2009	BMPR2, ACVRL1, BMP6
3	A clue for telangiectasis in systemic sclerosis: elevated serum soluble endoglin levels in patients with the limited cutaneous form of the disease. (16902284)	Fujimoto M.... Sato S.	2006	ENG, BMP6
4	Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis. (10484772)	Black G.C.M.... McLeod D.	1999	NDP, CTD

Genes related to telangiectasis according to GeneCards:

(show all 14)

id	Symbol	Description	Score	GeneCards Section Context
1	CTD	Coats disease	11.0	Publications
2	C16orf7	chromosome 16 open reading frame 7	11.0	Disorders
3	ANKRD33	ankyrin repeat domain 33	11.0
4	SOX18	SRY (sex determining region Y)-box 18	11.0
5	OR2AG1	olfactory receptor, family 2, subfamily AG, member 1	11.0
6	NDP	Norrie disease (pseudoglioma)	11.0	Publications
7	CENPB	centromere protein B, 80kDa	11.0
8	ACVRL1	activin A receptor type II-like 1	11.0	Publications
9	APLN	apelin	11.0
10	ENG	endoglin	11.0	Publications
11	BMPR2	bone morphogenetic protein receptor, type II (serine/threonine kinase)	11.0	Publications
12	PINX1	PIN2/TERF1 interacting, telomerase inhibitor 1	11.0
13	BMP6	bone morphogenetic protein 6	11.0	Publications
14	ATM	ataxia telangiectasia mutated	11.0	Publications

Pathways related to telangiectasis according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Molecular Mechanisms of Cancer36	8.0	BMP6, BMPR2, ATM, ACVRL1, SOX18

Compounds related to telangiectasis according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	tgf beta132	8.8	BMP6, ENG, ACVRL1
2	threonine32	7.5	BMP6, BMPR2, ATM, ENG, ACVRL1

Biological processes related to telangiectasis according to GeneDecks:

(show all 13)

id	Name	GO ID	Score	Top Affiliating Genes
1	venous blood vessel development	GO:060841	9.8	ACVRL1, BMPR2
2	negative regulation of DNA biosynthetic process	GO:2000279	9.7	BMPR2, ACVRL1
3	retina vasculature development in camera-type eye	GO:061298	9.6	ACVRL1, BMPR2
4	artery development	GO:060840	9.6	ACVRL1, BMPR2
5	lymphatic endothelial cell differentiation	GO:060836	9.6	BMPR2, ACVRL1, SOX18
6	lymphangiogenesis	GO:001946	9.5	BMPR2, ACVRL1, SOX18
7	negative regulation of endothelial cell proliferation	GO:001937	9.3	ENG, ACVRL1
8	positive regulation of BMP signaling pathway	GO:030513	9.3	BMPR2, ENG, ACVRL1
9	positive regulation of endothelial cell differentiation	GO:045603	9.2	BMP6, ACVRL1
10	positive regulation of bone mineralization	GO:030501	9.1	BMP6, BMPR2
11	positive regulation of endothelial cell proliferation	GO:001938	8.9	BMP6, BMPR2, ACVRL1
12	positive regulation of pathway-restricted SMAD protein phosphorylation	GO:010862	8.6	BMP6, BMPR2, ENG, ACVRL1
13	BMP signaling pathway	GO:030509	8.5	ACVRL1, ENG, BMPR2, BMP6

Molecular functions related to telangiectasis according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	transforming growth factor beta binding	GO:050431	9.6	ENG, ACVRL1
2	activin binding	GO:048185	9.3	ENG, ACVRL1
3	transforming growth factor beta-activated receptor activity	GO:005024	9.0	BMPR2, ENG, ACVRL1