MCID: HRD008
MIFTS: 72

Hereditary Hemorrhagic Telangiectasia

Categories: Rare diseases, Cardiovascular diseases, Genetic diseases, Neuronal diseases, Eye diseases, Liver diseases, Bone diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Hereditary Hemorrhagic Telangiectasia

MalaCards integrated aliases for Hereditary Hemorrhagic Telangiectasia:

Name: Hereditary Hemorrhagic Telangiectasia 38 12 72 23 50 24 25 56 14 69
Hht 23 50 24 25 56
Osler-Weber-Rendu Disease 12 23 24
Rendu-Osler-Weber Disease 12 50 56
Osler Hemorrhagic Telangiectasia Syndrome 12 29
Telangiectasia, Hereditary Hemorrhagic 42
Telangiectasia Hereditary Hemorrhagic 52
Osler Hemorrhagic Telangiectasia 24
Osler Weber Rendu Syndrome 50
Osler-Weber-Rendu Syndrome 25
Osler-Rendu-Weber Disease 50
Rendu-Osler Disease 56
Orw Disease 50

Characteristics:

Orphanet epidemiological data:

56
hereditary hemorrhagic telangiectasia
Inheritance: Autosomal dominant; Prevalence: 1-5/10000 (Europe),1-5/10000 (France),1-9/100000 (United Kingdom),1-5/10000 (Denmark),1-5/10000 (Japan),1-9/100000 (United States),1-5/10000; Age of onset: Childhood; Age of death: normal life expectancy;

GeneReviews:

23
Penetrance Hht displays age-related penetrance with increased manifestations developing over a lifetime...

Classifications:



Summaries for Hereditary Hemorrhagic Telangiectasia

NIH Rare Diseases : 50 hereditary hemorrhagic telangiectasia (hht) is an inherited disorder of the blood vessels that can cause excessive bleeding. people with this condition can develop abnormal blood vessels called arteriovenous malformations (avms) in several areas of the body. if they are on the skin, they are called telangiectasias. the avms can also develop in other parts of the body, such as the brain, lungs, liver, or intestines. hht is caused by mutations in several genes, including acvrl1, eng, smad4, and gdf2. at least 2 additional as-yet-unknown genes are also suspected. it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. there is no cure for hht. treatment is symptomatic and supportive, with a focus on controlling bleeding, either through surgery or medication. last updated: 4/20/2016

MalaCards based summary : Hereditary Hemorrhagic Telangiectasia, also known as hht, is related to juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome and eng-related hereditary hemorrhagic telangiectasia, and has symptoms including nephrolithiasis, migraine and seizures. An important gene associated with Hereditary Hemorrhagic Telangiectasia is ENG (Endoglin), and among its related pathways/superpathways are ERK Signaling and GPCR Pathway. The drugs Bevacizumab and Menthol have been mentioned in the context of this disorder. Affiliated tissues include Lateral Plate Mesoderm, liver and brain, and related phenotypes are Increased shRNA abundance (Z-score > 2) and cardiovascular system

Disease Ontology : 12 An autosomal dominant disease characterized by the presence of multiple arteriovenous malformations that lack intervening capillaries and result in direct connections between arteries and veins.

Genetics Home Reference : 25 Hereditary hemorrhagic telangiectasia is a disorder that results in the development of multiple abnormalities in the blood vessels.

Wikipedia : 72 Hereditary hemorrhagic telangiectasia (HHT), also known as Osler–Weber–Rendu disease and... more...

GeneReviews: NBK1351

Related Diseases for Hereditary Hemorrhagic Telangiectasia

Diseases in the Hereditary Hemorrhagic Telangiectasia family:

Telangiectasia, Hereditary Hemorrhagic, Type 3 Telangiectasia, Hereditary Hemorrhagic, Type 4
Telangiectasia, Hereditary Hemorrhagic, Type 1 Telangiectasia, Hereditary Hemorrhagic, Type 5
Telangiectasia, Hereditary Hemorrhagic, Type 2 Acvrl1-Related Hereditary Hemorrhagic Telangiectasia
Eng-Related Hereditary Hemorrhagic Telangiectasia Gdf2-Related Hereditary Hemorrhagic Telangiectasia
Smad4-Related Hereditary Hemorrhagic Telangiectasia

Diseases related to Hereditary Hemorrhagic Telangiectasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 122)
id Related Disease Score Top Affiliating Genes
1 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 12.5
2 eng-related hereditary hemorrhagic telangiectasia 12.1
3 acvrl1-related hereditary hemorrhagic telangiectasia 12.1
4 gdf2-related hereditary hemorrhagic telangiectasia 12.0
5 smad4-related hereditary hemorrhagic telangiectasia 12.0
6 pulmonary hypertension, familial primary, 1, with or without hht 11.8
7 telangiectasia, hereditary hemorrhagic, type 2 11.7
8 telangiectasia, hereditary hemorrhagic, type 3 11.7
9 telangiectasia, hereditary hemorrhagic, type 4 11.7
10 telangiectasia, hereditary hemorrhagic, type 1 11.7
11 pulmonary arteriovenous malformation 11.4
12 telangiectasia, hereditary hemorrhagic, type 5 11.0
13 pulmonary arterio-veinous fistula 11.0
14 pulmonary branches stenosis 10.8 ACVRL1 ENG
15 vitamin d-dependent rickets type ii 10.7 ACVRL1 ENG SMAD4
16 arteriovenous malformation 10.7
17 pulmonary venoocclusive disease 1 10.7 ACVRL1 BMPR2 ENG
18 homocystinuria caused by cystathionine beta-synthase deficiency 10.7 ACVRL1 BMPR2 ENG
19 hypertonia 10.6 NOS3 VEGFA
20 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria 10.6 BMP6 ENG VEGFA
21 ohdo syndrome, maat-kievit-brunner type 10.6 BMP6 TGFB1 VEGFA
22 fasting hypoglycemia 10.6 TGFBR1 TGFBR2
23 hepatitis 10.6
24 transient hypogammaglobulinemia 10.5 TGFBR1 TGFBR2
25 preeclampsia/eclampsia 1 10.5 ENG NOS3 VEGFA
26 cutaneous leishmaniasis 10.5 ANGPT2 VEGFA
27 mitral valve stenosis 10.5 ENG VEGFA VWF
28 strawberry gallbladder 10.4 BMP6 TGFB1 TGFB2
29 pituitary infarct 10.4 ACVRL1 BMPR2 ENG VEGFA
30 marfan lipodystrophy syndrome 10.4 BMP6 TGFBR1 TGFBR2
31 vascular malformation 10.4
32 hyperinsulinism 10.4 TGFB2 VEGFA
33 esophageal leukoplakia 10.4 NOS3 VEGFA VWF
34 malignant granular cell skin tumor 10.3 ANGPT2 TGFB2 VEGFA
35 tooth erosion 10.3 ACVRL1 ENG VEGFA VWF
36 citrullinemia, adult-onset type ii 10.3 ANGPT2 NOS3 VEGFA
37 gnas hyperfunction 10.3 TGFB2 TGFBR1 TGFBR2
38 bubonic plague 10.3 BMPR2 NOS3 TGFB1 VEGFA
39 type 1 papillary adenoma of the kidney 10.3 TGFBR1 TGFBR2
40 cerebritis 10.3
41 bleeding disorder, platelet-type, 21 10.3 TGFB2 TGFBR1 TGFBR2
42 aneurysm 10.3
43 gallbladder cancer 10.2 PDGFRA SMAD4 VEGFA
44 middle lobe syndrome 10.2 CXCL8 TGFB1 VEGFA
45 endotheliitis 10.2
46 pulmonary hypertension 10.2
47 epidural neoplasm 10.2 VEGFA VWF
48 pleural tuberculosis 10.2 ENG NOS3 VEGFA
49 atrial fibrillation and stroke 10.2 TGFB2 TGFBR1 TGFBR2
50 arteriovenous fistula 10.2

Graphical network of the top 20 diseases related to Hereditary Hemorrhagic Telangiectasia:



Diseases related to Hereditary Hemorrhagic Telangiectasia

Symptoms & Phenotypes for Hereditary Hemorrhagic Telangiectasia

Human phenotypes related to Hereditary Hemorrhagic Telangiectasia:

56 32 (show all 36)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nephrolithiasis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000787
2 migraine 56 32 frequent (33%) Frequent (79-30%) HP:0002076
3 seizures 56 32 occasional (7.5%) Occasional (29-5%) HP:0001250
4 hematuria 56 32 occasional (7.5%) Occasional (29-5%) HP:0000790
5 epistaxis 56 32 hallmark (90%) Very frequent (99-80%) HP:0000421
6 cirrhosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0001394
7 cholelithiasis 56 32 occasional (7.5%) Occasional (29-5%) HP:0001081
8 cholecystitis 56 32 frequent (33%) Frequent (79-30%) HP:0001082
9 amblyopia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000646
10 congestive heart failure 56 32 occasional (7.5%) Occasional (29-5%) HP:0001635
11 venous thrombosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0004936
12 hepatic failure 56 32 occasional (7.5%) Occasional (29-5%) HP:0001399
13 portal hypertension 56 32 frequent (33%) Frequent (79-30%) HP:0001409
14 pulmonary embolism 56 32 occasional (7.5%) Occasional (29-5%) HP:0002204
15 hemoptysis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002105
16 cerebral hemorrhage 56 32 occasional (7.5%) Occasional (29-5%) HP:0001342
17 microcytic anemia 56 32 frequent (33%) Frequent (79-30%) HP:0001935
18 conjunctival telangiectasia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000524
19 transient ischemic attack 56 32 occasional (7.5%) Occasional (29-5%) HP:0002326
20 subarachnoid hemorrhage 56 32 occasional (7.5%) Occasional (29-5%) HP:0002138
21 cavernous hemangioma 56 32 frequent (33%) Frequent (79-30%) HP:0001048
22 spontaneous hematomas 56 32 frequent (33%) Frequent (79-30%) HP:0007420
23 retinal telangiectasia 56 32 occasional (7.5%) Occasional (29-5%) HP:0007763
24 gastrointestinal hemorrhage 56 32 occasional (7.5%) Occasional (29-5%) HP:0002239
25 visceral angiomatosis 56 32 frequent (33%) Frequent (79-30%) HP:0100761
26 esophageal varix 56 32 occasional (7.5%) Occasional (29-5%) HP:0002040
27 intestinal polyposis 56 32 occasional (7.5%) Occasional (29-5%) HP:0200008
28 peripheral arteriovenous fistula 56 32 occasional (7.5%) Occasional (29-5%) HP:0100784
29 pulmonary hypertension 56 Occasional (29-5%)
30 pulmonary arterial hypertension 32 occasional (7.5%) HP:0002092
31 arteriovenous malformation 56 Frequent (79-30%)
32 mucosal telangiectasiae 56 Very frequent (99-80%)
33 teleangiectasia of the skin 56 Very frequent (99-80%)
34 abnormality of the cerebral vasculature 56 Occasional (29-5%)
35 abnormality of cardiovascular system physiology 56 Frequent (79-30%)
36 telangiectasia of the skin 32 hallmark (90%) HP:0100585

UMLS symptoms related to Hereditary Hemorrhagic Telangiectasia:


cyanosis, dyspnea, seizures, clubbing

GenomeRNAi Phenotypes related to Hereditary Hemorrhagic Telangiectasia according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-107 10.38 TGFB2 SMAD4
2 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.38 TGFBR2 TGFB2 SMAD4 TGFBR1 TGIF1 BMP6
3 Increased shRNA abundance (Z-score > 2) GR00366-A-113 10.38 ACVRL1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-114 10.38 BMP6
5 Increased shRNA abundance (Z-score > 2) GR00366-A-115 10.38 TGFB2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-12 10.38 TGFBR2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-121 10.38 TGFBR2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-123 10.38 TGFBR2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-129 10.38 PDGFRA
10 Increased shRNA abundance (Z-score > 2) GR00366-A-130 10.38 ACVRL1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-132 10.38 TGFBR2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-133 10.38 TGFB2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-138 10.38 TGFB2 BMP6 TGIF1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-143 10.38 TGIF1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-146 10.38 PDGFRA
16 Increased shRNA abundance (Z-score > 2) GR00366-A-147 10.38 TGFBR1 TGFBR2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-152 10.38 TGFBR2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-157 10.38 TGIF1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-162 10.38 TGFBR2
20 Increased shRNA abundance (Z-score > 2) GR00366-A-164 10.38 TGFBR2
21 Increased shRNA abundance (Z-score > 2) GR00366-A-168 10.38 TGIF1 ACVRL1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-169 10.38 TGFBR1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-186 10.38 TGFBR2
24 Increased shRNA abundance (Z-score > 2) GR00366-A-188 10.38 TGFBR2
25 Increased shRNA abundance (Z-score > 2) GR00366-A-196 10.38 TGFB2
26 Increased shRNA abundance (Z-score > 2) GR00366-A-199 10.38 ACVRL1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-207 10.38 PDGFRA
28 Increased shRNA abundance (Z-score > 2) GR00366-A-208 10.38 BMP6
29 Increased shRNA abundance (Z-score > 2) GR00366-A-21 10.38 SMAD4
30 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.38 BMP6 TGFBR2
31 Increased shRNA abundance (Z-score > 2) GR00366-A-215 10.38 TGFB2
32 Increased shRNA abundance (Z-score > 2) GR00366-A-22 10.38 TGFBR1
33 Increased shRNA abundance (Z-score > 2) GR00366-A-24 10.38 TGIF1
34 Increased shRNA abundance (Z-score > 2) GR00366-A-25 10.38 SMAD4
35 Increased shRNA abundance (Z-score > 2) GR00366-A-32 10.38 PDGFRA
36 Increased shRNA abundance (Z-score > 2) GR00366-A-36 10.38 TGFBR1
37 Increased shRNA abundance (Z-score > 2) GR00366-A-37 10.38 TGFBR1
38 Increased shRNA abundance (Z-score > 2) GR00366-A-39 10.38 TGFBR2
39 Increased shRNA abundance (Z-score > 2) GR00366-A-42 10.38 TGFB2 SMAD4
40 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10.38 SMAD4 ACVRL1
41 Increased shRNA abundance (Z-score > 2) GR00366-A-46 10.38 SMAD4
42 Increased shRNA abundance (Z-score > 2) GR00366-A-47 10.38 BMP6
43 Increased shRNA abundance (Z-score > 2) GR00366-A-49 10.38 PDGFRA
44 Increased shRNA abundance (Z-score > 2) GR00366-A-50 10.38 TGFB2
45 Increased shRNA abundance (Z-score > 2) GR00366-A-52 10.38 TGIF1
46 Increased shRNA abundance (Z-score > 2) GR00366-A-54 10.38 SMAD4
47 Increased shRNA abundance (Z-score > 2) GR00366-A-57 10.38 TGIF1
48 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.38 ACVRL1
49 Increased shRNA abundance (Z-score > 2) GR00366-A-7 10.38 TGFBR2
50 Increased shRNA abundance (Z-score > 2) GR00366-A-73 10.38 TGFBR2 TGFB2 SMAD4 ACVRL1 PDGFRA
51 Increased shRNA abundance (Z-score > 2) GR00366-A-74 10.38 SMAD4
52 Increased shRNA abundance (Z-score > 2) GR00366-A-76 10.38 BMP6
53 Increased shRNA abundance (Z-score > 2) GR00366-A-81 10.38 TGFBR2 SMAD4 ACVRL1
54 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.38 TGFBR1 ACVRL1
55 Increased shRNA abundance (Z-score > 2) GR00366-A-88 10.38 TGFBR1
56 Increased shRNA abundance (Z-score > 2) GR00366-A-9 10.38 TGIF1
57 Decreased viability GR00107-A-1 10.23 TGFBR2
58 Decreased viability GR00173-A 10.23 BMPR2 PDGFRA
59 Decreased viability GR00221-A-1 10.23 ACVRL1 BMPR2 PDGFRA TGFBR1 TGFBR2
60 Decreased viability GR00221-A-2 10.23 ACVRL1
61 Decreased viability GR00221-A-3 10.23 TGFBR2 ACVRL1 BMPR2 PDGFRA
62 Decreased viability GR00221-A-4 10.23 TGFBR2 ACVRL1 BMPR2 PDGFRA TGFBR1
63 Decreased viability GR00301-A 10.23 BMPR2

MGI Mouse Phenotypes related to Hereditary Hemorrhagic Telangiectasia:

44 (show all 20)
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.52 ACVRL1 ANGPT2 BMPR2 COL5A1 ENG GDF2
2 growth/size/body region MP:0005378 10.41 ACVRL1 BMP6 BMPR2 COL5A1 ENG NOS3
3 homeostasis/metabolism MP:0005376 10.41 TGFB2 TGFBR1 TGFBR2 TGIF1 VEGFA VWF
4 cellular MP:0005384 10.4 TGIF1 VEGFA VWF ANGPT2 BMPR2 NOS3
5 digestive/alimentary MP:0005381 10.38 ENG NOS3 PDGFRA SMAD1 SMAD4 TGFB1
6 mortality/aging MP:0010768 10.38 TGFBR1 TGFBR2 TGIF1 VEGFA VWF ACVRL1
7 embryo MP:0005380 10.37 SMAD4 TGFB1 TGFB2 TGFBR1 TGFBR2 TGIF1
8 immune system MP:0005387 10.31 ANGPT2 BMPR2 GDF2 NOS3 PDGFRA SMAD4
9 hematopoietic system MP:0005397 10.3 ACVRL1 BMPR2 ENG NOS3 PDGFRA SMAD4
10 craniofacial MP:0005382 10.27 VEGFA ACVRL1 ENG PDGFRA SMAD1 SMAD4
11 nervous system MP:0003631 10.25 TGFBR1 TGFBR2 TGIF1 VEGFA VWF ACVRL1
12 muscle MP:0005369 10.23 ACVRL1 BMPR2 ENG NOS3 PDGFRA SMAD1
13 endocrine/exocrine gland MP:0005379 10.2 TGFBR2 VEGFA NOS3 PDGFRA SMAD1 SMAD4
14 normal MP:0002873 10.15 ACVRL1 BMPR2 COL5A1 ENG NOS3 PDGFRA
15 neoplasm MP:0002006 9.98 PDGFRA SMAD1 SMAD4 TGFB1 TGFBR1 TGFBR2
16 reproductive system MP:0005389 9.96 BMP6 GDF2 NOS3 PDGFRA SMAD1 SMAD4
17 respiratory system MP:0005388 9.93 ACVRL1 ANGPT2 BMPR2 ENG NOS3 PDGFRA
18 renal/urinary system MP:0005367 9.92 ACVRL1 BMPR2 NOS3 PDGFRA SMAD4 TGFB1
19 skeleton MP:0005390 9.77 SMAD1 SMAD4 TGFB1 TGFB2 TGFBR1 TGFBR2
20 vision/eye MP:0005391 9.28 NOS3 TGFB1 TGFB2 TGFBR2 TGIF1 VEGFA

Drugs & Therapeutics for Hereditary Hemorrhagic Telangiectasia

Drugs for Hereditary Hemorrhagic Telangiectasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 64)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bevacizumab Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 216974-75-3
2
Menthol Approved Phase 4 2216-51-5 16666
3 Angiogenesis Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
4 Angiogenesis Modulating Agents Phase 4,Phase 3,Phase 2,Phase 1
5
Tranexamic Acid Approved Phase 3,Phase 2 1197-18-8 5526
6
Mupirocin Approved, Investigational, Vet_approved Phase 3 12650-69-0 446596
7
Petrolatum Approved Phase 3 8009-03-8
8 Anti-Bacterial Agents Phase 3,Phase 2,Phase 1
9 Anti-Infective Agents Phase 3,Phase 2,Phase 1
10 Antifibrinolytic Agents Phase 3,Phase 2
11 Coagulants Phase 3,Phase 2
12 Hemostatics Phase 3,Phase 2
13 Soy Bean Nutraceutical Phase 3
14
Iron Approved Phase 2 7439-89-6 23925
15
Tamoxifen Approved Phase 2 10540-29-1 2733526
16
Octreotide Approved, Investigational Phase 2 83150-76-9 383414 6400441
17
Somatostatin Approved Phase 2 38916-34-6, 51110-01-1 53481605
18
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492
19
Timolol Approved Phase 2 26839-75-8 33624 5478
20
Peginterferon alfa-2b Approved Phase 2 99210-65-8, 215647-85-1
21 Pharmaceutical Solutions Phase 2,Phase 1
22 Immunosuppressive Agents Phase 2,Phase 1
23 Antihypertensive Agents Phase 2
24 Antineoplastic Agents, Hormonal Phase 2
25 Bone Density Conservation Agents Phase 2
26 Estrogen Antagonists Phase 2
27 Estrogen Receptor Modulators Phase 2
28 Estrogens Phase 2
29 Hormone Antagonists Phase 2
30 Hormones Phase 2
31 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
32 Selective Estrogen Receptor Modulators Phase 2
33 Gastrointestinal Agents Phase 2
34 Liver Extracts Phase 2
35 Calcineurin Inhibitors Phase 2
36 Adrenergic Agents Phase 2
37 Adrenergic Antagonists Phase 2
38 Adrenergic beta-Antagonists Phase 2
39 Anti-Arrhythmia Agents Phase 2
40 Neurotransmitter Agents Phase 2
41 Aluminum hydroxide, magnesium hydroxide, simethicone drug combination Phase 2
42 Ophthalmic Solutions Phase 2
43 TEMPO Phase 2
44 Tetrahydrozoline Phase 2
45 Antiviral Agents Phase 2
46 Interferon-alpha Phase 2
47 interferons Phase 2
48 Tin Fluorides Phase 2
49 Pomalidomide Approved Phase 1 19171-19-8
50 Ferrosoferric Oxide Phase 1

Interventional clinical trials:

(show top 50) (show all 54)

id Name Status NCT ID Phase Drugs
1 Investigation of Coagulation Parameters in Hereditary Haemorrhagic Telangiectasia Completed NCT00230659 Phase 4
2 Intranasal Bevacizumab for HHT-Related Epistaxis Recruiting NCT02389959 Phase 4 Bevacizumab;Placebo (Saline)
3 Tranexamic Acid and Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) Completed NCT01031992 Phase 3 Tranexamic acid first, than placebo;First placebo, than Tranexamic acid.
4 Phase III Randomized, Placebo-Controlled, Crossover Study of Soy Protein Isolate for Hereditary Hemorrhagic Telangiectasia Completed NCT00004654 Phase 3 soy protein isolate
5 ATERO : A Randomised Study With Tranexamic Acid in Epistaxis of Rendu Osler Syndrome Completed NCT00355108 Phase 3 tranexamic acid
6 Treatment of Nasal Staphylococcus Aureus Colonization in Patients With HHT Not yet recruiting NCT02963129 Phase 3 Mupirocin
7 BABH Study: Efficacy and Safety of Bevacizumab on Severe Bleedings Associated With Hemorrhagic Hereditary Telangiectasia (HHT). Not yet recruiting NCT03227263 Phase 3 Bevacizumab;sodium chloride 0.9%
8 Efficacy of a Bevacizumab Nasal Spray as a Treatment for Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) Terminated NCT02106520 Phase 2, Phase 3 Bevacizumab;placebo
9 Submucosal Bevacizumab for the Management of Recurrent Epistaxis in Patients With Hereditary Hemorrhagic Telangiectasia (HHT) Unknown status NCT01402531 Phase 2 Submucosal Bevacizumab
10 Topical Bevacizumab for the Management of Recurrent Epistaxis in Patients With Hereditary Hemorrhagic Telangiectasia (HHT) Unknown status NCT01397695 Phase 2 Bevacizumab
11 Treatment of Hereditary Hemorrhagic Telangiectasia of the Nasal Mucosa by Intranasal Bevacizumab : Search for Effective Dose Unknown status NCT02157987 Phase 1, Phase 2 bevacuzimab spray
12 Efficacy of Thalidomide in the Treatment of Hereditary Hemorrhagic Telangiectasia Completed NCT01485224 Phase 2 Thalidomide
13 Anti-Estrogen Therapy for Hereditary Hemorrhagic Telangiectasia A Double-Blind Placebo-Controlled Clinical Trial Completed NCT00375622 Phase 2 Tamoxifen
14 Phase II Pilot Study of Octreotide, a Somatostatin Octapeptide Analog, for Gastrointestinal Hemorrhage in Hormone-Refractory Hereditary Hemorrhagic Telangiectasia and Senile Ectasia Completed NCT00004327 Phase 2 octreotide
15 Intranasal Submucosal Bevacizumab for Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) Completed NCT01314274 Phase 2 Bevacizumab;NaCl
16 Thalidomide Reduces Arteriovenous Malformation Related Gastrointestinal Bleeding Completed NCT00389935 Phase 2 Thalidomide
17 North American Study of Epistaxis in HHT Completed NCT01408030 Phase 2 Sterile saline;Bevacizumab;Estriol;Tranexamic Acid
18 Efficacy and Safety of Bevacizumab for the Treatment Hemorrhagic Hereditary Telangiectasia (HHT) Associated With Severe Hepatic Vascular Malformations. Phase II Study Completed NCT00843440 Phase 2 Bevacizumab
19 Octreotide in Patients With GI Bleeding Due to Rendu-Osler-Weber Recruiting NCT02874326 Phase 2 Octreotide LAR
20 Efficacy and Safety of a 0.1% Tacrolimus Nasal Ointment as a Treatment for Epistaxis in Hemorrhagic Hereditary Telangiectasia (HHT) Recruiting NCT03152019 Phase 2 Protopic® (Tacrolimus) 0.1% ointment;Placebo
21 Efficacy of a Timolol Nasal Spray as a Treatment for Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) - (TEMPO) Active, not recruiting NCT02484716 Phase 2 Timolol nasal spray;Placebo nasal spray
22 Phase 2 Study of PEG-Intron in Hereditary Hemorrhagic Telangiectasia Terminated NCT00588146 Phase 2 Pegylated Interferon Alpha2b
23 Evaluation of Pazopanib on Bleeding in Subjects With Hereditary Haemorrhagic Telangiectasia Terminated NCT02204371 Phase 2 Pazopanib;Placebo
24 Pomalidomide in Hereditary Hemorrhagic Telangiectasia and Transfusion-Dependent Vascular Ectasia: a Phase I Study Unknown status NCT02287558 Phase 1 Pomalidomide
25 The ELLIPSE Study: A Phase-1 Study Evaluating the Tolerance of Bevacizumab Nasal Spray to Treat Epistaxis in Hereditary Hemorrhagic Telangiectasia Completed NCT01507480 Phase 1 Bevacizumab
26 MRA With Feraheme in HHT Recruiting NCT02977637 Phase 1
27 Ranibizumab for the Management of Recurrent Nosebleeds in Patients With Hereditary Hemorrhagic Telangiectasia (HHT) Withdrawn NCT01406639 Phase 1 Ranibizumab
28 Iron Deficiency and Hereditary Haemorrhagic Telangiectasia Unknown status NCT01908543 Ferrous sulphate 200mg oral tablet
29 Diet and Hereditary Haemorrhagic Telangiectasia Unknown status NCT01692015
30 Investigation of Plasma Proteins in Patients With Hereditary Haemorrhagic Telangiectasia and PAVMs Unknown status NCT00230672
31 Study of Endothelial Cells in Patients With Hereditary Haemorrhagic Telangiectasia Unknown status NCT00733629
32 Cardiopulmonary Exercise Testing to Evaluate Pulmonary AVMs Unknown status NCT02436213
33 Studies of White Blood Cells Derived From HHT Patients Unknown status NCT00230633
34 Pharmacogenomics in Pulmonary Arterial Hypertension Unknown status NCT00593905 Sitaxsentan;Bosentan, Ambrisentan
35 Office-sclerotherapy for Epistaxis Due to Hereditary Hemorrhagic Telangiectasia Completed NCT01408732 Sodium tetradecyl sulfate (sotradecol)
36 Screening Behavior in Adults With Hereditary Hemorrhagic Telangiectasia Completed NCT00684879
37 Study of the Natural History and Genotype-Phenotype Correlations of Hereditary Hemorrhagic Telangiectasia Patients Completed NCT00004649
38 Studies of Hereditary Hemorrhagic Telangiectasia Completed NCT00004648
39 Hereditary Haemorrhagic Telangiectasia Flight Safety Study Completed NCT01590121
40 Frequency of Common Medical Conditions in People With and Without HHT Completed NCT02464644
41 Cerebral Hemorrhage Risk in Hereditary Hemorrhagic Telangiectasia Recruiting NCT01158807
42 Graded TTCE for Post-Embolization PAVM Monitoring Recruiting NCT02936349
43 Prospective Pilot Study of Floseal for the Treatment of Anterior Epistaxis in Patients With (HHT) Recruiting NCT02638012 Floseal
44 Topical Anti-angiogenic Therapy for Telangiectasia in HHT: Proof of Concept Recruiting NCT01752049 Topical timolol maleate;placebo saline drops
45 Molecular Studies on Hereditary Haemorrhagic Telangiectasia Families Recruiting NCT00230620
46 Case Notes Review on Patients With Hereditary Haemorrhagic Telangiectasia Recruiting NCT00230685
47 Immunmodulation in Patients With HHT Recruiting NCT02983253
48 Registry for Vascular Anomalies Associated With Coagulopathy Recruiting NCT00576888
49 Institutional Registry of Haemorrhagic Hereditary Telangiectasia Recruiting NCT01761981
50 Reperfusion of Pulmonary Arteriovenous Malformations After Embolotherapy Recruiting NCT01856842

Search NIH Clinical Center for Hereditary Hemorrhagic Telangiectasia

Cochrane evidence based reviews: telangiectasia, hereditary hemorrhagic

Genetic Tests for Hereditary Hemorrhagic Telangiectasia

Genetic tests related to Hereditary Hemorrhagic Telangiectasia:

id Genetic test Affiliating Genes
1 Osler Hemorrhagic Telangiectasia Syndrome 29
2 Hereditary Hemorrhagic Telangiectasia 24 SMAD4

Anatomical Context for Hereditary Hemorrhagic Telangiectasia

MalaCards organs/tissues related to Hereditary Hemorrhagic Telangiectasia:

39
Liver, Brain, Skin, Lung, Testes, Endothelial, Heart
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Hereditary Hemorrhagic Telangiectasia:
id Tissue Anatomical CompartmentCell Relevance
1 Lateral Plate Mesoderm Splanchnic Mesoderm Mural Cells Potential therapeutic candidate

Publications for Hereditary Hemorrhagic Telangiectasia

Articles related to Hereditary Hemorrhagic Telangiectasia:

(show top 50) (show all 673)
id Title Authors Year
1
Comprehensive management of hereditary hemorrhagic telangiectasia. ( 27841771 )
2017
2
A Survey of Pulmonary Arteriovenous Malformation Screening, Management, and Follow-Up in Hereditary Hemorrhagic Telangiectasia Centers of Excellence. ( 28188364 )
2017
3
A Case Report of Hereditary Hemorrhagic Telangiectasia Diagnosed in a Podiatric Medical Patient. ( 28394685 )
2017
4
Differential diagnosis of hepatopulmonary syndrome (HPS): Portopulmonary hypertension (PPH) and hereditary hemorrhagic telangiectasia (HHT). ( 28759737 )
2017
5
Hereditary hemorrhagic telangiectasia-laser treatment of epistaxis. ( 28931195 )
2017
6
Gastrointestinal Manifestations of Hereditary Hemorrhagic Telangiectasia (HHT): A Systematic Review of the Literature. ( 28836046 )
2017
7
Intravenous Bevacizumab Therapy in a Patient with Hereditary Hemorrhagic Telangiectasia, ENG E137K, Alcoholic Cirrhosis, and Portal Hypertension. ( 28626375 )
2017
8
SMAD4 gene mutation and risk of aortic dilation: Lessons from hereditary hemorrhagic telangiectasia. ( 28874286 )
2017
9
Macro- and microcirculation patterns of intrahepatic blood flow changes in patients with hereditary hemorrhagic telangiectasia. ( 28210085 )
2017
10
Cerebral hemorrhage in monozygotic twins with hereditary hemorrhagic telangiectasia: case report and hemorrhagic risk evaluation. ( 28524787 )
2017
11
Basal Ganglia T1 Hyperintensity in Hereditary Hemorrhagic Telangiectasia. ( 28775059 )
2017
12
Hereditary Hemorrhagic Telangiectasia Management. ( 28298578 )
2017
13
Left atrial appendage occlusion in a patient with hereditary hemorrhagic telangiectasia and atrial fibrillation - a therapeutic option worth considering. ( 28905045 )
2017
14
Pulmonary Arteriovenous Malformations Are Associated with Silent Brain Infarcts in Hereditary Hemorrhagic Telangiectasia Patients. ( 28746925 )
2017
15
Is bevacizumab effective for reducing epistaxis in hereditary hemorrhagic telangiectasia? ( 27796042 )
2017
16
Endoglin and alk1 as therapeutic targets for hereditary hemorrhagic telangiectasia. ( 28796572 )
2017
17
Thalidomide for Epistaxis in Patients with Hereditary Hemorrhagic Telangiectasia: A Preliminary Study. ( 28418273 )
2017
18
Mutation affecting the proximal promoter of Endoglin as the origin of hereditary hemorrhagic telangiectasia type 1. ( 28231770 )
2017
19
WITHDRAWN: The Role of capsule endoscopy and device assisted enteroscopy for small bowel lesions in hereditary hemorrhagic telangiectasia. ( 28619257 )
2017
20
The Lung in Hereditary Hemorrhagic Telangiectasia. ( 28850955 )
2017
21
Diagnosis and Treatment of Hereditary Hemorrhagic Telangiectasia. ( 28638289 )
2017
22
Prevalence and predictors of anemia in hereditary hemorrhagic telangiectasia. ( 28639385 )
2017
23
Pregnancy and Mesenchimal Dysplasias (Marfan Syndrome, Ehlers-danlos Syndrome, Hereditary Hemorrhagic Telangiectasia). ( 28482718 )
2017
24
Emerging role of bevacizumab in management of patients with symptomatic hepatic involvement in Hereditary Hemorrhagic Telangiectasia. ( 28776732 )
2017
25
7-day weighed food diaries suggest patients with hereditary hemorrhagic telangiectasia may spontaneously modify their diet to avoid nosebleed precipitants. ( 28347346 )
2017
26
Thalidomide for Hereditary Hemorrhagic Telangiectasia With Pulmonary Arterial Hypertension. ( 28794352 )
2017
27
Initial experience of a hereditary hemorrhagic telangiectasia center of excellence. ( 28636740 )
2017
28
Hereditary hemorrhagic telangiectasia with hemothorax in pregnancy. ( 28360478 )
2017
29
High-Output Heart Failure Contributing to Recurrent Epistaxis Kiesselbach Area Syndrome in a Patient With Hereditary Hemorrhagic Telangiectasia. ( 28210642 )
2017
30
Pulmonary Hypertension Prevalence and Prognosis in a Cohort of Patients with Hereditary Hemorrhagic Telangiectasia Undergoing Embolization of pAVMs. ( 28375020 )
2017
31
Pulmonary Hypertension in a Large Cohort with Hereditary Hemorrhagic Telangiectasia. ( 28743113 )
2017
32
Selective effects of oral antiangiogenic tyrosine kinase inhibitors on an animal model of hereditary hemorrhagic telangiectasia. ( 28339142 )
2017
33
Osteonecrosis after intranasal injection with bevacizumab in treating hereditary hemorrhagic telangiectasia: A case report. ( 28671294 )
2017
34
Influence of temporary nasal occlusion (tNO) on epistaxis frequency in patients with hereditary hemorrhagic telangiectasia (HHT). ( 28070641 )
2017
35
Lack of efficacy of topical timolol for cutaneous telangiectasias in patients with hereditary hemorrhagic telangiectasia: Results of a pilot study. ( 28411778 )
2017
36
Giant symptomatic aneurysm secondary to hereditary hemorrhagic telangiectasia of a main hepatic artery with aberrant origin in superior mesenteric artery. ( 28461180 )
2017
37
Depression and post-traumatic stress disorder in individuals with hereditary hemorrhagic telangiectasia: A cross-sectional survey. ( 28314138 )
2017
38
Central nervous system manganese induced lesions and clinical consequences in patients with hereditary hemorrhagic telangiectasia. ( 28521822 )
2017
39
Pulmonary Hypertension in a Patient with Hereditary Hemorrhagic Telangiectasia. ( 28759897 )
2017
40
Liver transplantation for hereditary hemorrhagic telangiectasia: a systematic review. ( 28427830 )
2017
41
Endoscopic-guided coblation treatment of nasal telangiectasias in hereditary hemorrhagic telangiectasia: "How I do it". ( 28490409 )
2017
42
Bevacizumab and gastrointestinal bleeding in hereditary hemorrhagic telangiectasia. ( 28070235 )
2016
43
Fluorescein-guided intraoperative endoscopy in patients with hereditary hemorrhagic telangiectasia: first impressions. ( 27860447 )
2016
44
Natural history of brain capillary vascular malformations in hereditary hemorrhagic telangiectasia patients. ( 26919971 )
2016
45
Definite hereditary hemorrhagic telangiectasia in a 60-year-old black Kenyan woman: a case report. ( 27225226 )
2016
46
Hereditary hemorrhagic telangiectasia patient presenting with brain abscess due to silent pulmonary arteriovenous malformation. ( 28292107 )
2016
47
Effect of Topical Intranasal Therapy on Epistaxis Frequency in Patients With Hereditary Hemorrhagic Telangiectasia: A Randomized Clinical Trial. ( 27599329 )
2016
48
Evidence for the founder effect of a novel ACVRL1 splice-site mutation in Hungarian hereditary hemorrhagic telangiectasia families. ( 27291782 )
2016
49
Open arterial reconstruction of multiple hepatic artery aneurysms in a patient with hereditary hemorrhagic telangiectasia: A case report. ( 27861387 )
2016
50
Nasal closure for the treatment of epistaxis secondary to hereditary hemorrhagic telangiectasia. ( 27079134 )
2016

Variations for Hereditary Hemorrhagic Telangiectasia

ClinVar genetic disease variations for Hereditary Hemorrhagic Telangiectasia:

6 (show all 34)
id Gene Variation Type Significance SNP ID Assembly Location
1 ENG NM_000118.3(ENG): c.831C> G (p.Tyr277Ter) single nucleotide variant Pathogenic rs121918400 GRCh37 Chromosome 9, 130587239: 130587239
2 ENG ENG, 39-BP DEL, NT882 deletion Pathogenic
3 ENG ENG, 2-BP DEL, NT1153 deletion Pathogenic
4 ENG ENG, IVS3DS, A-G, +4 single nucleotide variant Pathogenic
5 ENG ENG, IVS3DS, G-A, +1 deletion Pathogenic
6 ENG NM_000118.3(ENG): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs267606783 GRCh37 Chromosome 9, 130616633: 130616633
7 ENG NM_000118.3(ENG): c.1238G> T (p.Gly413Val) single nucleotide variant Pathogenic rs121918401 GRCh37 Chromosome 9, 130582213: 130582213
8 ENG ENG, IVS1DS, G-A, +1 single nucleotide variant Pathogenic
9 ENG NM_000118.3(ENG): c.360C> A (p.Tyr120Ter) single nucleotide variant Pathogenic rs121918402 GRCh37 Chromosome 9, 130591966: 130591966
10 ENG NM_000118.3(ENG): c.259C> T (p.Gln87Ter) single nucleotide variant Likely pathogenic rs730880096 GRCh37 Chromosome 9, 130592067: 130592067
11 ENG NM_000118.3(ENG): c.1586G> A (p.Arg529His) single nucleotide variant Pathogenic/Likely pathogenic rs863223538 GRCh37 Chromosome 9, 130580499: 130580499
12 ENG NM_000118.3(ENG): c.1080_1083delGACA (p.Thr361Serfs) deletion Pathogenic rs863223540 GRCh37 Chromosome 9, 130586634: 130586637
13 ENG NM_000118.3(ENG): c.640_643delGGCC (p.Gly214Thrfs) deletion Pathogenic rs864622666 GRCh38 Chromosome 9, 127825741: 127825744
14 ENG NM_000118.3(ENG): c.447G> C (p.Trp149Cys) single nucleotide variant Pathogenic rs878853657 GRCh38 Chromosome 9, 127826586: 127826586
15 ENG NM_000118.3(ENG): c.68-1G> A single nucleotide variant Pathogenic rs878853659 GRCh38 Chromosome 9, 127843246: 127843246
16 ENG NM_000118.3(ENG): c.67delA (p.Ser23Valfs) deletion Pathogenic rs878853658 GRCh37 Chromosome 9, 130616568: 130616568
17 ENG NM_000118.3(ENG): c.360+1G> A single nucleotide variant Pathogenic rs886039505 GRCh37 Chromosome 9, 130591965: 130591965
18 ENG NM_001114753.2(ENG): c.880_881delGA (p.Asp294Hisfs) deletion Pathogenic rs886042916 GRCh37 Chromosome 9, 130587189: 130587190
19 ENG NC_000009.12: g.(?_127843094)_(127843245_?)dup duplication Likely pathogenic GRCh38 Chromosome 9, 127843094: 127843245
20 ENG NM_000118.3(ENG): c.1327delC (p.Leu443Serfs) deletion Pathogenic rs1060501413 GRCh38 Chromosome 9, 127818817: 127818817
21 ENG NM_000118.3(ENG): c.1199delG (p.Gly400Valfs) deletion Pathogenic rs1060501422 GRCh38 Chromosome 9, 127819973: 127819973
22 ENG NM_000118.3(ENG): c.904G> T (p.Glu302Ter) single nucleotide variant Pathogenic rs1060501419 GRCh38 Chromosome 9, 127824887: 127824887
23 ENG NM_000118.3(ENG): c.991G> A (p.Gly331Ser) single nucleotide variant Pathogenic rs1060501410 GRCh38 Chromosome 9, 127824800: 127824800
24 ENG NC_000009.12: g.(?_127819622)_(127820037_?)del deletion Likely pathogenic GRCh37 Chromosome 9, 130581901: 130582316
25 ENG NC_000009.12: g.(?_127843094)_(127843245_?)del deletion Pathogenic GRCh37 Chromosome 9, 130605373: 130605524
26 ENG NM_000118.3(ENG): c.1415_1424delAGAGCTTTGT (p.Gln472Argfs) deletion Pathogenic rs1060501412 GRCh38 Chromosome 9, 127818720: 127818729
27 ENG NM_000118.3(ENG): c.715dupG (p.Glu239Glyfs) duplication Pathogenic GRCh38 Chromosome 9, 127825332: 127825332
28 ENG NM_000118.3(ENG): c.524-2A> G single nucleotide variant Pathogenic rs1060501414 GRCh38 Chromosome 9, 127825862: 127825862
29 ENG NM_000118.3(ENG): c.-127C> T single nucleotide variant Pathogenic rs1060501408 GRCh38 Chromosome 9, 127854482: 127854482
30 ENG NC_000009.12: g.(?_127815012)_(127854773_?)del deletion Pathogenic GRCh37 Chromosome 9, 130577291: 130617052
31 ENG NM_000118.3(ENG): c.1029_1060del32insATGGTGG (p.Thr344Trpfs) indel Pathogenic rs1064792934 GRCh38 Chromosome 9, 127824378: 127824409
32 ENG NM_000118.3(ENG): c.219G> A (p.Thr73=) single nucleotide variant Likely pathogenic rs755348996 GRCh38 Chromosome 9, 127843094: 127843094
33 ENG NM_000118.3(ENG): c.1A> G (p.Met1Val) single nucleotide variant Likely pathogenic rs1060501418 GRCh38 Chromosome 9, 127854355: 127854355
34 ENG NC_000009.12: g.127815369_127843093del27725 deletion Pathogenic GRCh38 Chromosome 9, 127815369: 127843093

Expression for Hereditary Hemorrhagic Telangiectasia

Search GEO for disease gene expression data for Hereditary Hemorrhagic Telangiectasia.

Pathways for Hereditary Hemorrhagic Telangiectasia

Pathways related to Hereditary Hemorrhagic Telangiectasia according to GeneCards Suite gene sharing:

(show top 50) (show all 65)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.89 ACVRL1 ANGPT2 BMP6 BMPR2 COL5A1 CXCL8
2
Show member pathways
13.78 BMP6 GDF2 NOS3 PDGFRA SMAD4 TGFB1
3
Show member pathways
13.71 ACVRL1 ANGPT2 BMP6 BMPR2 CXCL8 NOS3
4
Show member pathways
13.61 BMP6 GDF2 NOS3 PDGFRA SMAD4 TGFB1
5
Show member pathways
13.61 ANGPT2 BMP6 CXCL8 GDF2 PDGFRA SMAD1
6
Show member pathways
13.5 ACVRL1 ANGPT2 BMP6 BMPR2 CXCL8 GDF2
7
Show member pathways
13.32 ACVRL1 ANGPT2 BMP6 BMPR2 CXCL8 GDF2
8
Show member pathways
13.31 BMP6 GDF2 NOS3 PDGFRA TGFB1 TGFB2
9
Show member pathways
13.13 BMP6 COL5A1 GDF2 PDGFRA TGFB1 TGFB2
10
Show member pathways
13.08 BMP6 GDF2 PDGFRA TGFB1 TGFB2 TGFBR1
11
Show member pathways
12.9 CXCL8 TGFB1 TGFB2 TGFBR1 TGFBR2
12
Show member pathways
12.87 COL5A1 CXCL8 PDGFRA TGFB1 VEGFA
13
Show member pathways
12.85 SMAD1 SMAD4 TGFB1 TGFBR1 TGFBR2
14 12.77 CXCL8 PDGFRA SMAD4 TGFB1 TGFB2 TGFBR1
15 12.75 PDGFRA TGFB1 TGFB2 TGFBR1 TGFBR2
16
Show member pathways
12.65 SMAD4 TGFB1 TGFB2 TGFBR1 TGFBR2
17
Show member pathways
12.6 PDGFRA SMAD4 TGFB1 TGFB2 TGFBR1 TGFBR2
18 12.57 BMPR2 MIR205 PDGFRA TGFB2 VEGFA
19
Show member pathways
12.56 BMPR2 PDGFRA SMAD1 SMAD4 TGFB1 TGFB2
20 12.53 PDGFRA SMAD4 TGFB1 TGFB2 TGFBR1 TGFBR2
21
Show member pathways
12.46 NOS3 PDGFRA TGFBR1 TGFBR2
22
Show member pathways
12.38 SMAD4 TGFB1 TGFBR1 TGFBR2 TGIF1
23 12.32 BMP6 BMPR2 ENG SMAD1 SMAD4 TGFB1
24
Show member pathways
12.31 SMAD4 TGFB1 TGFB2 TGFBR1 TGFBR2
25 12.31 SMAD4 TGFB1 TGFB2 TGFBR1 TGFBR2 VEGFA
26 12.27 BMPR2 SMAD1 SMAD4 TGFBR1 TGFBR2 VEGFA
27
Show member pathways
12.19 SMAD4 TGFB1 TGFB2 TGFBR1 TGFBR2
28 12.19 BMP6 BMPR2 SMAD1 SMAD4 TGFB1 TGFB2
29 12.17 SMAD4 TGFB1 TGFBR1 TGFBR2 TGIF1
30 12.12 BMP6 SMAD4 TGFB1 TGFB2 TGFBR1 TGFBR2
31 12.11 TGFB1 TGFB2 TGFBR1 TGFBR2
32
Show member pathways
12.02 SMAD1 SMAD4 TGFB1 TGFB2 TGFBR1 TGFBR2
33
Show member pathways
12 CXCL8 SMAD4 TGFB1 TGFBR1 TGFBR2
34 11.98 BMP6 ENG TGFB1 TGFB2
35 11.95 CXCL8 TGFB1 TGFB2 VEGFA
36 11.92 CXCL8 NOS3 SMAD4 TGFB1 TGFB2 TGFBR1
37 11.88 CXCL8 NOS3 TGFB1
38 11.86 ACVRL1 ENG SMAD1 SMAD4 TGFB1 TGFB2
39 11.84 SMAD4 TGFB1 TGFBR1 TGFBR2
40
Show member pathways
11.83 BMP6 BMPR2 SMAD1 SMAD4
41
Show member pathways
11.82 SMAD4 TGFB1 TGFBR1 TGFBR2
42 11.79 BMP6 GDF2 PDGFRA TGFB1 TGFB2
43 11.78 BMP6 TGFB1 TGFB2 VEGFA
44 11.76 SMAD4 TGFBR1 TGFBR2
45
Show member pathways
11.73 SMAD4 TGFB1 TGFB2 TGFBR1 TGFBR2
46 11.71 ENG SMAD4 VEGFA
47 11.7 ANGPT2 ENG NOS3 PDGFRA TGFB1 TGFB2
48 11.69 CXCL8 SMAD4 TGFB1 TGFBR1 VEGFA
49 11.68 ENG SMAD1 SMAD4 TGFB1 TGFBR1 TGFBR2
50 11.67 SMAD4 TGFB1 TGFBR1 TGFBR2

GO Terms for Hereditary Hemorrhagic Telangiectasia

Cellular components related to Hereditary Hemorrhagic Telangiectasia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.85 ANGPT2 BMP6 BMPR2 COL5A1 CXCL8 ENG
2 platelet alpha granule lumen GO:0031093 9.56 TGFB1 TGFB2 VEGFA VWF
3 caveola GO:0005901 9.54 BMPR2 NOS3 TGFBR2
4 cell surface GO:0009986 9.5 ACVRL1 BMPR2 ENG TGFB1 TGFBR1 TGFBR2
5 SMAD protein complex GO:0071141 9.32 SMAD1 SMAD4
6 transforming growth factor beta receptor complex GO:0070022 8.8 ENG TGFBR1 TGFBR2
7 extracellular region GO:0005576 10.06 ANGPT2 BMP6 COL5A1 CXCL8 GDF2 TGFB1

Biological processes related to Hereditary Hemorrhagic Telangiectasia according to GeneCards Suite gene sharing:

(show top 50) (show all 109)
id Name GO ID Score Top Affiliating Genes
1 cartilage development GO:0051216 9.99 BMP6 GDF2 SMAD1 TGFBR2
2 signal transduction by protein phosphorylation GO:0023014 9.98 ACVRL1 BMPR2 TGFB2 TGFBR1 TGFBR2
3 positive regulation of osteoblast differentiation GO:0045669 9.97 BMP6 BMPR2 GDF2 SMAD1
4 positive regulation of epithelial to mesenchymal transition GO:0010718 9.97 SMAD4 TGFB1 TGFB2 TGFBR1 TGFBR2
5 cellular response to mechanical stimulus GO:0071260 9.96 BMP6 ENG TGFB1
6 response to wounding GO:0009611 9.96 TGFB1 TGFB2 VWF
7 response to glucose GO:0009749 9.95 ANGPT2 TGFB1 TGFBR2
8 positive regulation of endothelial cell proliferation GO:0001938 9.95 ACVRL1 BMP6 BMPR2 GDF2 TGFBR1 VEGFA
9 transforming growth factor beta receptor signaling pathway GO:0007179 9.95 ACVRL1 SMAD1 SMAD4 TGFB1 TGFB2 TGFBR1
10 cell migration GO:0016477 9.94 COL5A1 TGFB1 TGFB2
11 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.94 TGFB1 TGFBR1 TGFBR2
12 activation of protein kinase activity GO:0032147 9.94 TGFB2 TGFBR2 VEGFA
13 positive regulation of epithelial cell proliferation GO:0050679 9.94 BMP6 TGFB1 VEGFA
14 cellular iron ion homeostasis GO:0006879 9.93 BMP6 GDF2 SMAD4
15 cellular response to transforming growth factor beta stimulus GO:0071560 9.93 ACVRL1 TGFB1 TGFBR1
16 cellular response to growth factor stimulus GO:0071363 9.93 ANGPT2 TGFB1 TGIF1
17 branching involved in blood vessel morphogenesis GO:0001569 9.93 ENG GDF2 TGFBR2 VEGFA
18 positive regulation of BMP signaling pathway GO:0030513 9.93 ACVRL1 BMPR2 ENG GDF2 SMAD4
19 SMAD protein signal transduction GO:0060395 9.93 BMP6 GDF2 SMAD1 SMAD4 TGFB1 TGFB2
20 outflow tract morphogenesis GO:0003151 9.92 BMPR2 TGFBR2 VEGFA
21 heart morphogenesis GO:0003007 9.92 COL5A1 TGFB2 VEGFA
22 cell development GO:0048468 9.92 GDF2 TGFB1 TGFB2
23 animal organ regeneration GO:0031100 9.92 ANGPT2 TGFB1 TGFBR2
24 positive regulation of cell division GO:0051781 9.92 TGFB1 TGFB2 VEGFA
25 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.92 ACVRL1 BMPR2 TGFBR1 TGFBR2
26 ventricular septum morphogenesis GO:0060412 9.92 BMPR2 SMAD4 TGFB2 TGFBR1 TGFBR2
27 collagen fibril organization GO:0030199 9.91 COL5A1 TGFB2 TGFBR1
28 positive regulation of protein secretion GO:0050714 9.91 BMP6 TGFB1 TGFB2
29 negative regulation of blood vessel endothelial cell migration GO:0043537 9.91 ACVRL1 ANGPT2 GDF2 TGFB1
30 angiogenesis GO:0001525 9.91 ACVRL1 ANGPT2 CXCL8 ENG GDF2 NOS3
31 epithelial to mesenchymal transition GO:0001837 9.9 TGFB1 TGFB2 TGFBR1
32 positive regulation of epithelial cell migration GO:0010634 9.9 BMPR2 TGFB2 TGFBR2
33 negative regulation of endothelial cell proliferation GO:0001937 9.89 ACVRL1 GDF2 TGFBR1
34 embryonic cranial skeleton morphogenesis GO:0048701 9.89 PDGFRA TGFBR1 TGFBR2
35 positive regulation of bone mineralization GO:0030501 9.89 BMP6 BMPR2 TGFB1
36 activin receptor signaling pathway GO:0032924 9.89 ACVRL1 BMPR2 GDF2 TGFBR1
37 outflow tract septum morphogenesis GO:0003148 9.89 BMPR2 ENG SMAD4 TGFB2 TGFBR2
38 blood vessel remodeling GO:0001974 9.88 ACVRL1 BMPR2 NOS3
39 blood vessel morphogenesis GO:0048514 9.88 ACVRL1 ANGPT2 GDF2
40 artery morphogenesis GO:0048844 9.87 ENG TGFBR1 VEGFA
41 regulation of transforming growth factor beta receptor signaling pathway GO:0017015 9.87 ENG SMAD4 TGFB1
42 positive regulation of cartilage development GO:0061036 9.86 BMPR2 GDF2 SMAD1
43 positive regulation of SMAD protein import into nucleus GO:0060391 9.86 BMP6 SMAD4 TGFB1 TGFBR1
44 endocardial cushion morphogenesis GO:0003203 9.85 ACVRL1 ENG TGFB2
45 ventricular trabecula myocardium morphogenesis GO:0003222 9.85 ENG TGFB2 TGFBR1
46 positive regulation of endothelial cell differentiation GO:0045603 9.85 ACVRL1 BMP6 GDF2
47 negative regulation of DNA biosynthetic process GO:2000279 9.84 ACVRL1 BMPR2 GDF2
48 atrioventricular valve morphogenesis GO:0003181 9.84 BMPR2 TGFB2 TGFBR2
49 response to cholesterol GO:0070723 9.83 TGFB1 TGFBR1 TGFBR2
50 SMAD protein complex assembly GO:0007183 9.83 SMAD1 SMAD4 TGFB1

Molecular functions related to Hereditary Hemorrhagic Telangiectasia according to GeneCards Suite gene sharing:

(show all 22)
id Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 9.89 BMP6 GDF2 TGFB1 TGFB2 VEGFA
2 cytokine activity GO:0005125 9.85 BMP6 CXCL8 GDF2 TGFB1 TGFB2 VEGFA
3 SMAD binding GO:0046332 9.72 ACVRL1 TGFBR1 TGFBR2
4 transforming growth factor beta receptor binding GO:0005160 9.71 BMP6 GDF2 TGFB1 TGFB2
5 I-SMAD binding GO:0070411 9.63 SMAD1 SMAD4 TGFBR1
6 type I transforming growth factor beta receptor binding GO:0034713 9.61 ENG TGFB1 TGFBR2
7 co-SMAD binding GO:0070410 9.6 SMAD1 TGIF1
8 activin binding GO:0048185 9.59 ACVRL1 ENG
9 platelet-derived growth factor binding GO:0048407 9.58 COL5A1 PDGFRA
10 BMP binding GO:0036122 9.57 BMPR2 ENG
11 BMP receptor activity GO:0098821 9.56 ACVRL1 BMPR2
12 transforming growth factor beta binding GO:0050431 9.56 ACVRL1 ENG TGFBR1 TGFBR2
13 transforming growth factor beta receptor activity, type I GO:0005025 9.54 ACVRL1 TGFBR1
14 type III transforming growth factor beta receptor binding GO:0034714 9.51 TGFB1 TGFB2
15 transforming growth factor beta-activated receptor activity GO:0005024 9.5 ACVRL1 TGFBR1 TGFBR2
16 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.46 ACVRL1 BMPR2 TGFBR1 TGFBR2
17 type II transforming growth factor beta receptor binding GO:0005114 9.26 ENG TGFB1 TGFB2 TGFBR1
18 signal transducer, downstream of receptor, with serine/threonine kinase activity GO:0004702 9.02 ACVRL1 BMPR2 TGFB2 TGFBR1 TGFBR2
19 protein binding GO:0005515 10.51 ACVRL1 ANGPT2 BMPR2 CXCL8 ENG GDF2
20 protein homodimerization activity GO:0042803 10.08 ENG PDGFRA SMAD1 SMAD4 TGFB1 TGFB2
21 protein kinase activity GO:0004672 10 ACVRL1 BMPR2 PDGFRA TGFBR1 TGFBR2
22 protein heterodimerization activity GO:0046982 10 BMP6 SMAD1 SMAD4 TGFB1 TGFB2 VEGFA

Sources for Hereditary Hemorrhagic Telangiectasia

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7 CNVD
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10 dbSNP
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16 ExPASy
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37 KEGG
38 LifeMap
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42 MeSH
43 MESH via Orphanet
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48 NDF-RT
51 NINDS
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54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
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