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 37 12 72 72 23 49 24 55 36 14 69
Hht 23 49 24 55
Rendu-Osler-Weber Disease 12 49 55
Osler Hemorrhagic Telangiectasia Syndrome 12 28
Telangiectasia, Hereditary Hemorrhagic 72 41
Osler-Weber-Rendu Disease 12 23
Telangiectasia Hereditary Hemorrhagic 51
Osler Weber Rendu Syndrome 49
Osler-Weber-Rendu Syndrome 24
Osler-Rendu-Weber Disease 49
Rendu-Osler Disease 55
Orw Disease 49

Characteristics:

Orphanet epidemiological data:

55
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 : 49 Hereditary hemorrhagic telangiectasia (HHT) is an inherited disorder of the blood vessels that can cause excessive bleeding. People with HHT can develop abnormal blood vessels called arteriovenous malformations (AVMs) in several areas of the body. AVMs on the skin are called telangiectasias. AVMs can also develop in other parts of the body, including the brain, lungs, liver, or intestines. HHT is caused by a mutation in one of several genes, including ACVRL1, ENG, SMAD4, and GDF2. Changes in at least other two unknown genes are also suspected of causing HHT in some people. HHT is inherited in an autosomal dominant pattern, which means a person only needs to inherit one copy of the changed gene to have HHT. While there is no cure for HHT, treatment is symptomatic and supportive, with a focus on controlling bleeding and preventing medical complications, either through surgery or medication. Last updated: 10/13/2017

MalaCards based summary : Hereditary Hemorrhagic Telangiectasia, also known as hht, is related to pulmonary arteriovenous malformation and arteriovenous malformation, and has symptoms including epistaxis, cavernous hemangioma and cholelithiasis. An important gene associated with Hereditary Hemorrhagic Telangiectasia is ENG (Endoglin), and among its related pathways/superpathways are TGF-beta signaling pathway and ERK Signaling. 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 Increased shRNA abundance (Z-score > 2)

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 : 24 Hereditary hemorrhagic telangiectasia is a disorder that results in the development of multiple abnormalities in the blood vessels.

GeneReviews: NBK1351

Related Diseases for Hereditary Hemorrhagic Telangiectasia

Diseases in the Hereditary Hemorrhagic Telangiectasia family:

Telangiectasia, Hereditary Hemorrhagic, Type 1 Telangiectasia, Hereditary Hemorrhagic, Type 2
Telangiectasia, Hereditary Hemorrhagic, Type 3 Telangiectasia, Hereditary Hemorrhagic, Type 4
Telangiectasia, Hereditary Hemorrhagic, Type 5

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

(show top 50) (show all 119)
# Related Disease Score Top Affiliating Genes
1 pulmonary arteriovenous malformation 33.2 ACVRL1 ENG
2 arteriovenous malformation 31.7 ACVRL1 BMPR2 ENG VEGFA
3 pulmonary hypertension, primary, 1 31.2 ACVRL1 BMPR2 ENG
4 aneurysm 30.8 TGFB2 TGFBR1 TGFBR2
5 weber syndrome 30.7 ACVRL1 ENG HHT3
6 angiodysplasia 30.6 ACVRL1 ENG VEGFA VWF
7 portal hypertension 30.5 BMPR2 NOS3 VEGFA VWF
8 marfan syndrome 30.2 BMP6 TGFBR1 TGFBR2
9 hepatopulmonary syndrome 30.2 NOS3 VEGFA VWF
10 pulmonary hypertension 29.8 ACVRL1 BMP6 BMPR2 ENG NOS3 SMAD4
11 telangiectasis 29.4 ACVRL1 BMP6 BMPR2 ENG GDF2 SMAD4
12 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 12.6
13 telangiectasia, hereditary hemorrhagic, type 1 12.1
14 telangiectasia, hereditary hemorrhagic, type 2 12.0
15 telangiectasia, hereditary hemorrhagic, type 3 11.8
16 telangiectasia, hereditary hemorrhagic, type 4 11.8
17 pulmonary arterio-veinous fistula 11.4
18 telangiectasia, hereditary hemorrhagic, type 5 11.1
19 pulmonary arteriovenous fistulas 10.6
20 hepatitis 10.6
21 hemifacial spasm 10.5 NOS3 VEGFA
22 juvenile nasopharyngeal angiofibroma 10.5 BMP6 ENG VEGFA
23 familial thoracic aortic aneurysm and dissection 10.5 TGFBR1 TGFBR2
24 dupuytren contracture 10.5 BMP6 TGFB1 VEGFA
25 critical limb ischemia 10.4 ANGPT2 VEGFA
26 transient hypogammaglobulinemia of infancy 10.4 TGFBR1 TGFBR2
27 peyronie's disease 10.4 SMAD4 TGFB1 TGFB2
28 tuberculoid leprosy 10.4 BMP6 TGFB1 TGFB2
29 vascular cancer 10.4 ENG VEGFA VWF
30 preretinal fibrosis 10.4 TGFB2 VEGFA
31 heritable pulmonary arterial hypertension 10.4 ACVRL1 BMPR2 ENG TGFB1
32 cerebritis 10.4
33 macular holes 10.3 ANGPT2 TGFB2 VEGFA
34 infiltrating angiolipoma 10.3 VEGFA VWF
35 tuberculous meningitis 10.3 CXCL8 TGFB1 VEGFA
36 glomeruloid hemangioma 10.3 ENG VEGFA
37 microvascular complications of diabetes 5 10.3 ANGPT2 NOS3 VEGFA
38 aortic aneurysm, familial thoracic 1 10.3 TGFB2 TGFBR1 TGFBR2
39 endotheliitis 10.3
40 idiopathic interstitial pneumonia 10.3 CXCL8 TGFB1 VEGFA
41 arteries, anomalies of 10.3 ACVRL1 NOS3 VEGFA VWF
42 leukoregulin 10.2 CXCL8 TGFB1
43 lung cancer susceptibility 3 10.2 SMAD4 TGFBR1 TGFBR2 VEGFA
44 arteriovenous fistula 10.2
45 pancreatitis 10.2
46 aortic disease 10.2 SMAD4 TGFB2 TGFBR1 TGFBR2
47 limb ischemia 10.2 ANGPT2 NOS3 VEGFA VWF
48 transient hypogammaglobulinemia 10.2 TGFBR1 TGFBR2
49 aortic aneurysm 10.2 TGFB2 TGFBR1 TGFBR2
50 pulmonary fibrosis, idiopathic 10.1 BMP6 CXCL8 TGFB1 TGFBR1

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:

55 31 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 epistaxis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000421
2 cavernous hemangioma 55 31 frequent (33%) Frequent (79-30%) HP:0001048
3 cholelithiasis 55 31 occasional (7.5%) Occasional (29-5%) HP:0001081
4 seizures 55 31 occasional (7.5%) Occasional (29-5%) HP:0001250
5 cirrhosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0001394
6 hepatic failure 55 31 occasional (7.5%) Occasional (29-5%) HP:0001399
7 congestive heart failure 55 31 occasional (7.5%) Occasional (29-5%) HP:0001635
8 pulmonary arterial hypertension 55 31 occasional (7.5%) Occasional (29-5%) HP:0002092
9 subarachnoid hemorrhage 55 31 occasional (7.5%) Occasional (29-5%) HP:0002138
10 pulmonary embolism 55 31 occasional (7.5%) Occasional (29-5%) HP:0002204
11 transient ischemic attack 55 31 occasional (7.5%) Occasional (29-5%) HP:0002326
12 spontaneous hematomas 55 31 frequent (33%) Frequent (79-30%) HP:0007420
13 visceral angiomatosis 55 31 frequent (33%) Frequent (79-30%) HP:0100761
14 intestinal polyposis 55 31 occasional (7.5%) Occasional (29-5%) HP:0200008
15 conjunctival telangiectasia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000524
16 amblyopia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000646
17 nephrolithiasis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000787
18 hematuria 55 31 occasional (7.5%) Occasional (29-5%) HP:0000790
19 cholecystitis 55 31 frequent (33%) Frequent (79-30%) HP:0001082
20 cerebral hemorrhage 55 31 occasional (7.5%) Occasional (29-5%) HP:0001342
21 portal hypertension 55 31 frequent (33%) Frequent (79-30%) HP:0001409
22 microcytic anemia 55 31 frequent (33%) Frequent (79-30%) HP:0001935
23 esophageal varix 55 31 occasional (7.5%) Occasional (29-5%) HP:0002040
24 migraine 55 31 frequent (33%) Frequent (79-30%) HP:0002076
25 hemoptysis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002105
26 gastrointestinal hemorrhage 55 31 occasional (7.5%) Occasional (29-5%) HP:0002239
27 venous thrombosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0004936
28 retinal telangiectasia 55 31 occasional (7.5%) Occasional (29-5%) HP:0007763
29 telangiectasia of the skin 55 31 hallmark (90%) Very frequent (99-80%) HP:0100585
30 peripheral arteriovenous fistula 55 31 occasional (7.5%) Occasional (29-5%) HP:0100784
31 abnormality of the cerebral vasculature 55 Occasional (29-5%)
32 abnormality of cardiovascular system physiology 55 Frequent (79-30%)
33 arteriovenous malformation 55 Frequent (79-30%)
34 mucosal telangiectasiae 55 Very frequent (99-80%)

UMLS symptoms related to Hereditary Hemorrhagic Telangiectasia:


clubbing, seizures, dyspnea, cyanosis

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

25 (show all 47)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-107 10.11 TGFB2 SMAD4
2 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.11 TGFBR1 BMP6 SMAD4 TGFBR2 TGFB2 TGIF1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-114 10.11 BMP6
4 Increased shRNA abundance (Z-score > 2) GR00366-A-115 10.11 TGFB2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-12 10.11 TGFBR2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-121 10.11 TGFBR2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-123 10.11 TGFBR2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-132 10.11 TGFBR2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-133 10.11 TGFB2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-138 10.11 TGFB2 BMP6 TGIF1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-143 10.11 TGIF1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-147 10.11 TGFBR1 TGFBR2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-152 10.11 TGFBR2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-157 10.11 TGIF1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-162 10.11 TGFBR2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-164 10.11 TGFBR2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-168 10.11 TGIF1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-169 10.11 TGFBR1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-186 10.11 TGFBR2
20 Increased shRNA abundance (Z-score > 2) GR00366-A-188 10.11 TGFBR2
21 Increased shRNA abundance (Z-score > 2) GR00366-A-196 10.11 TGFB2
22 Increased shRNA abundance (Z-score > 2) GR00366-A-208 10.11 BMP6
23 Increased shRNA abundance (Z-score > 2) GR00366-A-21 10.11 SMAD4
24 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.11 BMP6 TGFBR2
25 Increased shRNA abundance (Z-score > 2) GR00366-A-215 10.11 TGFB2
26 Increased shRNA abundance (Z-score > 2) GR00366-A-22 10.11 TGFBR1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-24 10.11 TGIF1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-25 10.11 SMAD4
29 Increased shRNA abundance (Z-score > 2) GR00366-A-36 10.11 TGFBR1
30 Increased shRNA abundance (Z-score > 2) GR00366-A-37 10.11 TGFBR1
31 Increased shRNA abundance (Z-score > 2) GR00366-A-39 10.11 TGFBR2
32 Increased shRNA abundance (Z-score > 2) GR00366-A-42 10.11 TGFB2 SMAD4
33 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10.11 SMAD4
34 Increased shRNA abundance (Z-score > 2) GR00366-A-46 10.11 SMAD4
35 Increased shRNA abundance (Z-score > 2) GR00366-A-47 10.11 BMP6
36 Increased shRNA abundance (Z-score > 2) GR00366-A-50 10.11 TGFB2
37 Increased shRNA abundance (Z-score > 2) GR00366-A-52 10.11 TGIF1
38 Increased shRNA abundance (Z-score > 2) GR00366-A-54 10.11 SMAD4
39 Increased shRNA abundance (Z-score > 2) GR00366-A-57 10.11 TGIF1
40 Increased shRNA abundance (Z-score > 2) GR00366-A-7 10.11 TGFBR2
41 Increased shRNA abundance (Z-score > 2) GR00366-A-73 10.11 TGFB2 SMAD4 TGFBR2
42 Increased shRNA abundance (Z-score > 2) GR00366-A-74 10.11 SMAD4
43 Increased shRNA abundance (Z-score > 2) GR00366-A-76 10.11 BMP6
44 Increased shRNA abundance (Z-score > 2) GR00366-A-81 10.11 SMAD4 TGFBR2
45 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.11 TGFBR1
46 Increased shRNA abundance (Z-score > 2) GR00366-A-88 10.11 TGFBR1
47 Increased shRNA abundance (Z-score > 2) GR00366-A-9 10.11 TGIF1

MGI Mouse Phenotypes related to Hereditary Hemorrhagic Telangiectasia:

43 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.44 VWF BMPR2 GDF2 ACVRL1 COL5A1 ANGPT2
2 growth/size/body region MP:0005378 10.32 VEGFA ENG BMPR2 ACVRL1 COL5A1 BMP6
3 homeostasis/metabolism MP:0005376 10.32 VEGFA VWF BMPR2 ACVRL1 ANGPT2 ENG
4 cellular MP:0005384 10.3 VEGFA VWF BMPR2 ANGPT2 SMAD4 NOS3
5 digestive/alimentary MP:0005381 10.28 VWF ACVRL1 ANGPT2 ENG TGFB2 NOS3
6 mortality/aging MP:0010768 10.28 VEGFA VWF ENG BMPR2 ACVRL1 COL5A1
7 embryo MP:0005380 10.26 VEGFA BMPR2 ACVRL1 COL5A1 ENG TGFB2
8 hematopoietic system MP:0005397 10.24 VEGFA VWF ENG BMPR2 ACVRL1 SMAD4
9 immune system MP:0005387 10.23 VEGFA VWF BMPR2 ANGPT2 SMAD4 GDF2
10 craniofacial MP:0005382 10.15 VEGFA ACVRL1 ENG SMAD4 TGFB1 TGFB2
11 nervous system MP:0003631 10.15 VEGFA VWF ENG BMPR2 ACVRL1 SMAD4
12 muscle MP:0005369 10.1 VEGFA BMPR2 ACVRL1 ENG TGFB2 NOS3
13 normal MP:0002873 10.02 VEGFA BMPR2 ACVRL1 COL5A1 ENG SMAD4
14 respiratory system MP:0005388 9.9 BMPR2 ACVRL1 ANGPT2 ENG NOS3 TGFB1
15 renal/urinary system MP:0005367 9.8 VEGFA BMPR2 ACVRL1 SMAD4 NOS3 TGFB1
16 skeleton MP:0005390 9.7 VEGFA BMPR2 BMP6 SMAD4 TGFB2 GDF2
17 vision/eye MP:0005391 9.28 VEGFA COL5A1 ANGPT2 GDF2 NOS3 TGFB1

Drugs & Therapeutics for Hereditary Hemorrhagic Telangiectasia

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

(show top 50) (show all 66)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bevacizumab Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 216974-75-3
2
Menthol Approved Phase 4 2216-51-5 16666
3 Angiogenesis Inhibitors Phase 4,Phase 2,Phase 3,Phase 1
4 Angiogenesis Modulating Agents Phase 4,Phase 2,Phase 3,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, Investigational Phase 3 8009-03-8
8 Antifibrinolytic Agents Phase 3,Phase 2
9 Coagulants Phase 3,Phase 2
10 Hemostatics Phase 3,Phase 2
11 Anti-Bacterial Agents Phase 3,Phase 2,Phase 1
12 Anti-Infective Agents Phase 3,Phase 2,Phase 1
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
Timolol Approved Phase 2 26839-75-8 5478 33624
17
Octreotide Approved, Investigational Phase 2 83150-76-9 6400441 383414
18
Somatostatin Approved, Investigational Phase 2 38916-34-6, 51110-01-1 53481605
19
Doxycycline Approved, Investigational, Vet_approved Phase 2 564-25-0 54671203
20
Peginterferon alfa-2b Approved Phase 2 215647-85-1, 99210-65-8
21 Pharmaceutical Solutions Phase 2,Phase 1
22 Antihypertensive Agents Phase 2
23 Immunosuppressive Agents Phase 2,Phase 1
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 Adrenergic Agents Phase 2
34 Adrenergic Antagonists Phase 2
35 Adrenergic beta-Antagonists Phase 2
36 Aluminum hydroxide, magnesium hydroxide, simethicone drug combination Phase 2
37 Anti-Arrhythmia Agents Phase 2
38 Neurotransmitter Agents Phase 2
39 Ophthalmic Solutions Phase 2
40 TEMPO Phase 2
41 Tetrahydrozoline Phase 2
42 Gastrointestinal Agents Phase 2
43 Antimalarials Phase 2
44 Antiparasitic Agents Phase 2
45 Antiprotozoal Agents Phase 2
46 Antiviral Agents Phase 2
47 Interferon-alpha Phase 2
48 interferons Phase 2
49 Liver Extracts Phase 2
50 Tin Fluorides Phase 2

Interventional clinical trials:

(show top 50) (show all 52)

# 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 Efficacy of a Bevacizumab Nasal Spray as a Treatment for Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) Terminated NCT02106520 Phase 2, Phase 3 Bevacizumab;placebo
8 Submucosal Bevacizumab for the Management of Recurrent Epistaxis in Patients With Hereditary Hemorrhagic Telangiectasia (HHT) Unknown status NCT01402531 Phase 2 Submucosal Bevacizumab
9 Topical Bevacizumab for the Management of Recurrent Epistaxis in Patients With Hereditary Hemorrhagic Telangiectasia (HHT) Unknown status NCT01397695 Phase 2 Bevacizumab
10 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
11 Efficacy of Thalidomide in the Treatment of Hereditary Hemorrhagic Telangiectasia Completed NCT01485224 Phase 2 Thalidomide
12 Anti-Estrogen Therapy for Hereditary Hemorrhagic Telangiectasia A Double-Blind Placebo-Controlled Clinical Trial Completed NCT00375622 Phase 2 Tamoxifen
13 Efficacy of a Timolol Nasal Spray as a Treatment for Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) - (TEMPO) Completed NCT02484716 Phase 2 Timolol nasal spray;Placebo nasal spray
14 Intranasal Submucosal Bevacizumab for Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) Completed NCT01314274 Phase 2 Bevacizumab;NaCl
15 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
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 Octreotide in Patients With GI Bleeding Due to Rendu-Osler-Weber Recruiting NCT02874326 Phase 2 Octreotide LAR
19 Doxycycline for Hereditary Hemorrhagic Telangiectasia Not yet recruiting NCT03397004 Phase 2 Doxycycline Hyclate;Placebo
20 Phase 2 Study of PEG-Intron in Hereditary Hemorrhagic Telangiectasia Terminated NCT00588146 Phase 2 Pegylated Interferon Alpha2b
21 Evaluation of Pazopanib on Bleeding in Subjects With Hereditary Haemorrhagic Telangiectasia Terminated NCT02204371 Phase 2 Pazopanib;Placebo
22 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
23 Pomalidomide in Hereditary Hemorrhagic Telangiectasia and Transfusion-Dependent Vascular Ectasia: a Phase I Study Recruiting NCT02287558 Phase 1 Pomalidomide
24 MRA With Feraheme in HHT Recruiting NCT02977637 Phase 1
25 Ranibizumab for the Management of Recurrent Nosebleeds in Patients With Hereditary Hemorrhagic Telangiectasia (HHT) Withdrawn NCT01406639 Phase 1 Ranibizumab
26 Iron Deficiency and Hereditary Haemorrhagic Telangiectasia Unknown status NCT01908543 Ferrous sulphate 200mg oral tablet
27 Diet and Hereditary Haemorrhagic Telangiectasia Unknown status NCT01692015
28 Case Notes Review on Patients With Hereditary Haemorrhagic Telangiectasia Unknown status NCT00230685
29 Study of Endothelial Cells in Patients With Hereditary Haemorrhagic Telangiectasia Unknown status NCT00733629
30 Investigation of Plasma Proteins in Patients With Hereditary Haemorrhagic Telangiectasia and PAVMs Unknown status NCT00230672
31 Cardiopulmonary Exercise Testing to Evaluate Pulmonary AVMs Unknown status NCT02436213
32 Studies of White Blood Cells Derived From HHT Patients Unknown status NCT00230633
33 Pharmacogenomics in Pulmonary Arterial Hypertension Unknown status NCT00593905 Sitaxsentan;Bosentan, Ambrisentan
34 Institutional Registry of Haemorrhagic Hereditary Telangiectasia Unknown status NCT01761981
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 Hereditary Haemorrhagic Telangiectasia Flight Safety Study Completed NCT01590121
38 Study of the Natural History and Genotype-Phenotype Correlations of Hereditary Hemorrhagic Telangiectasia Patients Completed NCT00004649
39 Studies of Hereditary Hemorrhagic Telangiectasia Completed NCT00004648
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 Immunmodulation in Patients With HHT Recruiting NCT02983253
47 Registry for Vascular Anomalies Associated With Coagulopathy Recruiting NCT00576888
48 Reperfusion of Pulmonary Arteriovenous Malformations After Embolotherapy Recruiting NCT01856842
49 Registration Study for Rare Type of Pulmonary Hypertension Recruiting NCT03169010
50 Symptoms and Treatment Results in Hereditary Hemorrhagic Telangiectasia Active, not recruiting NCT02690246

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:

# Genetic test Affiliating Genes
1 Osler Hemorrhagic Telangiectasia Syndrome 28 ENG

Anatomical Context for Hereditary Hemorrhagic Telangiectasia

MalaCards organs/tissues related to Hereditary Hemorrhagic Telangiectasia:

38
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:
# 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 693)
# Title Authors Year
1
Surgical Treatment vs Nonsurgical Treatment for Brain Arteriovenous Malformations in Patients with Hereditary Hemorrhagic Telangiectasia: A Retrospective Multicenter Consortium Study. ( 29281110 )
2018
2
Functional analysis of a novel ENG variant in a patient with hereditary hemorrhagic telangiectasia (HHT) identifies a new Sp1 binding-site. ( 29305977 )
2018
3
Hereditary Hemorrhagic Telangiectasia. ( 29217066 )
2018
4
Clinical presentation and treatment paradigms in patients with hereditary hemorrhagic telangiectasia and spinal vascular malformations. ( 29398197 )
2018
5
Medical treatment of epistaxis in hereditary hemorrhagic telangiectasia: an evidence-based review. ( 29393992 )
2018
6
Endothelial cell biology of Endoglin in hereditary hemorrhagic telangiectasia. ( 29438260 )
2018
7
Probiotics and infective endocarditis in patients with hereditary hemorrhagic telangiectasia: a clinical case and a review of the literature. ( 29390976 )
2018
8
Inactivating mutations in Drosha mediate vascular abnormalities similar to hereditary hemorrhagic telangiectasia. ( 29339534 )
2018
9
Intravenous Bevacizumab for Refractory Hereditary Hemorrhagic Telangiectasia-Related Epistaxis and Gastrointestinal Bleeding. ( 29395350 )
2018
10
Pazopanib effective for bevacizumab-unresponsive epistaxis in hereditary hemorrhagic telangiectasia. ( 29451965 )
2018
11
The Current Role of Bevacizumab in the TreatmentA of Hereditary Hemorrhagic Telangiectasia-RelatedA Bleeding. ( 29395348 )
2018
12
Pulmonary Hypertension Prevalence and Prognosis in a Cohort of Patients with Hereditary Hemorrhagic Telangiectasia Undergoing Embolization of pAVMs. ( 28375020 )
2017
13
Endoglin and alk1 as therapeutic targets for hereditary hemorrhagic telangiectasia. ( 28796572 )
2017
14
Epistaxis in children and adolescents with hereditary hemorrhagic telangiectasia. ( 29171658 )
2017
15
Basal Ganglia T1 Hyperintensity in Hereditary Hemorrhagic Telangiectasia. ( 28775059 )
2017
16
Central nervous system manganese induced lesions and clinical consequences in patients with hereditary hemorrhagic telangiectasia. ( 28521822 )
2017
17
Gastrointestinal Manifestations of Hereditary Hemorrhagic Telangiectasia (HHT): A Systematic Review of the Literature. ( 28836046 )
2017
18
Osteonecrosis after intranasal injection with bevacizumab in treating hereditary hemorrhagic telangiectasia: A case report. ( 28671294 )
2017
19
Pregnancy and Mesenchimal Dysplasias (Marfan Syndrome, Ehlers-danlos Syndrome, Hereditary Hemorrhagic Telangiectasia). ( 28482718 )
2017
20
Orthodeoxia without Platypnea in Hereditary Hemorrhagic Telangiectasia in the Presence of a Cerebral Abscess and Multiple Pulmonary Arteriovenous Malformations: Unusual Complications and Transcatheter Endovascular Treatment. ( 29158938 )
2017
21
Hereditary Hemorrhagic Telangiectasia Management. ( 28298578 )
2017
22
A Case Report of Hereditary Hemorrhagic Telangiectasia Diagnosed in a Podiatric Medical Patient. ( 28394685 )
2017
23
Left atrial appendage occlusion in a patient with hereditary hemorrhagic telangiectasia and atrial fibrillation - a therapeutic option worth considering. ( 28905045 )
2017
24
Cerebral hemorrhage in monozygotic twins with hereditary hemorrhagic telangiectasia: case report and hemorrhagic risk evaluation. ( 28524787 )
2017
25
Pulmonary Hypertension in a Large Cohort with Hereditary Hemorrhagic Telangiectasia. ( 28743113 )
2017
26
Classifying Pulmonary Hypertension in Hereditary Hemorrhagic Telangiectasia. Hemodynamics Matter. ( 29140123 )
2017
27
Mutation affecting the proximal promoter of Endoglin as the origin of hereditary hemorrhagic telangiectasia type 1. ( 28231770 )
2017
28
Hereditary hemorrhagic telangiectasia-laser treatment of epistaxis. ( 28931195 )
2017
29
Thalidomide for Epistaxis in Patients with Hereditary Hemorrhagic Telangiectasia: A Preliminary Study. ( 28418273 )
2017
30
Emerging role of bevacizumab in management of patients with symptomatic hepatic involvement in Hereditary Hemorrhagic Telangiectasia. ( 28776732 )
2017
31
Influence of temporary nasal occlusion (tNO) on epistaxis frequency in patients with hereditary hemorrhagic telangiectasia (HHT). ( 28070641 )
2017
32
High-Output Heart Failure Contributing to Recurrent Epistaxis Kiesselbach Area Syndrome in a Patient With Hereditary Hemorrhagic Telangiectasia. ( 28210642 )
2017
33
Emergency thoracic endovascular aortic repair with celiac artery coverage in hereditary hemorrhagic telangiectasia. ( 29349377 )
2017
34
WITHDRAWN: The Role of capsule endoscopy and device assisted enteroscopy for small bowel lesions in hereditary hemorrhagic telangiectasia. ( 28619257 )
2017
35
Differential diagnosis of hepatopulmonary syndrome (HPS): Portopulmonary hypertension (PPH) and hereditary hemorrhagic telangiectasia (HHT). ( 28759737 )
2017
36
Macro- and microcirculation patterns of intrahepatic blood flow changes in patients with hereditary hemorrhagic telangiectasia. ( 28210085 )
2017
37
Depression and post-traumatic stress disorder in individuals with hereditary hemorrhagic telangiectasia: A cross-sectional survey. ( 28314138 )
2017
38
ENG mutational mosaicism in a family with hereditary hemorrhagic telangiectasia. ( 29243366 )
2017
39
Liver transplantation for hereditary hemorrhagic telangiectasia: a systematic review. ( 28427830 )
2017
40
Hereditary hemorrhagic telangiectasia with hemothorax in pregnancy. ( 28360478 )
2017
41
Selective effects of oral antiangiogenic tyrosine kinase inhibitors on an animal model of hereditary hemorrhagic telangiectasia. ( 28339142 )
2017
42
Prevalence and predictors of anemia in hereditary hemorrhagic telangiectasia. ( 28639385 )
2017
43
SMAD4 gene mutation and risk of aortic dilation: Lessons from hereditary hemorrhagic telangiectasia. ( 28874286 )
2017
44
Endoscopic-guided coblation treatment of nasal telangiectasias in hereditary hemorrhagic telangiectasia: "How I do it". ( 28490409 )
2017
45
A novel association between high red blood cell alloimmunization rates and hereditary hemorrhagic telangiectasia. ( 29210083 )
2017
46
Initial experience of a hereditary hemorrhagic telangiectasia center of excellence. ( 28636740 )
2017
47
The Lung in Hereditary Hemorrhagic Telangiectasia. ( 28850955 )
2017
48
Intra-venous bevacizumab in hereditary hemorrhagic telangiectasia (HHT): A retrospective study of 46 patients. ( 29190827 )
2017
49
Thalidomide for Hereditary Hemorrhagic Telangiectasia With Pulmonary Arterial Hypertension. ( 28794352 )
2017
50
A Survey of Pulmonary Arteriovenous Malformation Screening, Management, and Follow-Up in Hereditary Hemorrhagic Telangiectasia Centers of Excellence. ( 28188364 )
2017

Variations for Hereditary Hemorrhagic Telangiectasia

ClinVar genetic disease variations for Hereditary Hemorrhagic Telangiectasia:

6 (show top 50) (show all 72)
# Gene Variation Type Significance SNP ID Assembly Location
1 ENG ENG, 39-BP DEL, NT882 deletion Pathogenic
2 ENG NM_000118.3(ENG): c.831C> G (p.Tyr277Ter) single nucleotide variant Pathogenic rs121918400 GRCh37 Chromosome 9, 130587239: 130587239
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.1715T> A (p.Leu572Ter) single nucleotide variant Pathogenic rs863223539 GRCh38 Chromosome 9, 127817175: 127817175
12 ENG NM_000118.3(ENG): c.1428+1G> A single nucleotide variant Pathogenic rs863223542 GRCh37 Chromosome 9, 130580994: 130580994
13 ENG NM_000118.3(ENG): c.1080_1083delGACA (p.Thr361Serfs) deletion Pathogenic rs863223540 GRCh37 Chromosome 9, 130586634: 130586637
14 ENG NM_000118.3(ENG): c.640_643delGGCC (p.Gly214Thrfs) deletion Pathogenic rs864622666 GRCh38 Chromosome 9, 127825741: 127825744
15 ENG NM_000118.3(ENG): c.447G> C (p.Trp149Cys) single nucleotide variant Pathogenic rs878853657 GRCh37 Chromosome 9, 130588865: 130588865
16 ENG NM_000118.3(ENG): c.68-1G> A single nucleotide variant Pathogenic rs878853659 GRCh38 Chromosome 9, 127843246: 127843246
17 ENG NM_000118.3(ENG): c.67delA (p.Ser23Valfs) deletion Pathogenic rs878853658 GRCh37 Chromosome 9, 130616568: 130616568
18 ENG NM_000118.3(ENG): c.360+1G> A single nucleotide variant Pathogenic rs886039505 GRCh37 Chromosome 9, 130591965: 130591965
19 ENG NM_000118.3(ENG): c.277C> T (p.Arg93Ter) single nucleotide variant Pathogenic rs886039506 GRCh37 Chromosome 9, 130592049: 130592049
20 ENG NM_001114753.2(ENG): c.880_881delGA (p.Asp294Hisfs) deletion Pathogenic rs886042916 GRCh37 Chromosome 9, 130587189: 130587190
21 ACVRL1 NM_000020.2(ACVRL1): c.1435C> T (p.Arg479Ter) single nucleotide variant Pathogenic/Likely pathogenic rs1057517944 GRCh37 Chromosome 12, 52314600: 52314600
22 ENG NC_000009.12: g.(?_127843094)_(127843245_?)dup duplication Likely pathogenic GRCh38 Chromosome 9, 127843094: 127843245
23 ENG NM_000118.3(ENG): c.1327delC (p.Leu443Serfs) deletion Pathogenic rs1060501413 GRCh38 Chromosome 9, 127818817: 127818817
24 ENG NM_000118.3(ENG): c.1199delG (p.Gly400Valfs) deletion Pathogenic rs1060501422 GRCh38 Chromosome 9, 127819973: 127819973
25 ENG NM_000118.3(ENG): c.904G> T (p.Glu302Ter) single nucleotide variant Pathogenic rs1060501419 GRCh38 Chromosome 9, 127824887: 127824887
26 ENG NM_000118.3(ENG): c.991G> A (p.Gly331Ser) single nucleotide variant Pathogenic rs1060501410 GRCh38 Chromosome 9, 127824800: 127824800
27 ENG NC_000009.12: g.(?_127819622)_(127820037_?)del deletion Likely pathogenic GRCh37 Chromosome 9, 130581901: 130582316
28 ENG NC_000009.12: g.(?_127843094)_(127843245_?)del deletion Pathogenic GRCh37 Chromosome 9, 130605373: 130605524
29 ENG NM_000118.3(ENG): c.1415_1424delAGAGCTTTGT (p.Gln472Argfs) deletion Pathogenic rs1060501412 GRCh38 Chromosome 9, 127818720: 127818729
30 ENG NM_000118.3(ENG): c.715dupG (p.Glu239Glyfs) duplication Pathogenic GRCh38 Chromosome 9, 127825332: 127825332
31 ENG NM_000118.3(ENG): c.524-2A> G single nucleotide variant Pathogenic rs1060501414 GRCh38 Chromosome 9, 127825862: 127825862
32 ENG NM_000118.3(ENG): c.-127C> T single nucleotide variant Pathogenic rs1060501408 GRCh38 Chromosome 9, 127854482: 127854482
33 ENG NC_000009.12: g.(?_127815012)_(127854773_?)del deletion Pathogenic GRCh37 Chromosome 9, 130577291: 130617052
34 ENG NM_000118.3(ENG): c.1029_1060del32insATGGTGG (p.Thr344Trpfs) indel Pathogenic rs1064792934 GRCh38 Chromosome 9, 127824378: 127824409
35 ENG NM_000118.3(ENG): c.219G> A (p.Thr73=) single nucleotide variant Pathogenic/Likely pathogenic rs755348996 GRCh38 Chromosome 9, 127843094: 127843094
36 ENG NM_000118.3(ENG): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic/Likely pathogenic rs1060501418 GRCh38 Chromosome 9, 127854355: 127854355
37 ENG NM_000118.3(ENG): c.1121_1124delAAGA (p.Lys374Serfs) deletion Pathogenic rs1064793734 GRCh38 Chromosome 9, 127824314: 127824317
38 ENG NM_000118.3(ENG): c.715G> T (p.Glu239Ter) single nucleotide variant Pathogenic rs1064794220 GRCh37 Chromosome 9, 130587611: 130587611
39 ENG NC_000009.12: g.127815369_127843093del27725 deletion Pathogenic GRCh38 Chromosome 9, 127815369: 127843093
40 ENG NM_000118.3(ENG): c.1306C> T (p.Gln436Ter) single nucleotide variant Pathogenic/Likely pathogenic GRCh38 Chromosome 9, 127819627: 127819627
41 ENG NM_000118.3(ENG): c.511C> T (p.Arg171Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 9, 130588801: 130588801
42 ENG NM_001114753.2(ENG): c.1479C> A (p.Cys493Ter) single nucleotide variant Likely pathogenic GRCh37 Chromosome 9, 130580606: 130580606
43 ENG NM_001114753.2(ENG): c.816+1G> A single nucleotide variant Likely pathogenic rs111471193 GRCh38 Chromosome 9, 127825230: 127825230
44 ACVRL1 NM_000020.2(ACVRL1): c.100dup (p.Cys34Leufs) duplication Likely pathogenic GRCh38 Chromosome 12, 51913137: 51913137
45 ACVRL1 NM_000020.2(ACVRL1): c.200G> C (p.Arg67Pro) single nucleotide variant Likely pathogenic rs863223414 GRCh37 Chromosome 12, 52307021: 52307021
46 ACVRL1 NM_000020.2(ACVRL1): c.772G> A (p.Gly258Ser) single nucleotide variant Likely pathogenic GRCh38 Chromosome 12, 51914585: 51914585
47 ACVRL1 NM_000020.2(ACVRL1): c.1204G> A (p.Gly402Ser) single nucleotide variant Likely pathogenic GRCh37 Chromosome 12, 52309975: 52309975
48 ENG NM_000118.3(ENG): c.816+6T> C single nucleotide variant Pathogenic rs759191907 GRCh38 Chromosome 9, 127825225: 127825225
49 ENG NM_000118.3(ENG): c.1311G> C (p.Arg437=) single nucleotide variant Pathogenic GRCh38 Chromosome 9, 127819622: 127819622
50 ENG NM_001114753.2(ENG): c.1311dup (p.Lys438Glufs) duplication Pathogenic GRCh38 Chromosome 9, 127819622: 127819622

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 KEGG:

36
# Name Kegg Source Accession
1 TGF-beta signaling pathway hsa04350

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

(show top 50) (show all 64)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.86 ACVRL1 ANGPT2 BMP6 BMPR2 COL5A1 CXCL8
2
Show member pathways
13.75 BMP6 GDF2 NOS3 SMAD4 TGFB1 TGFB2
3
Show member pathways
13.72 ACVRL1 ANGPT2 BMP6 BMPR2 CXCL8 NOS3
4
Show member pathways
13.61 ANGPT2 BMP6 CXCL8 GDF2 SMAD4 TGFB1
5
Show member pathways
13.58 BMP6 GDF2 NOS3 SMAD4 TGFB1 TGFB2
6
Show member pathways
13.47 ACVRL1 ANGPT2 BMP6 BMPR2 CXCL8 GDF2
7
Show member pathways
13.32 ACVRL1 ANGPT2 BMP6 BMPR2 CXCL8 GDF2
8
Show member pathways
13.09 BMP6 COL5A1 GDF2 TGFB1 TGFB2 TGFBR1
9
Show member pathways
13.07 SMAD4 TGFB1 TGFB2 TGFBR1 TGFBR2 VEGFA
10 12.92 CXCL8 SMAD4 TGFB1 TGFB2 TGFBR1 TGFBR2
11 12.83 ANGPT2 TGFB1 TGFB2 TGFBR1 TGFBR2 VEGFA
12
Show member pathways
12.79 SMAD4 TGFB1 TGFB2 TGFBR1 TGFBR2
13
Show member pathways
12.65 ANGPT2 CXCL8 SMAD4 TGFB1 TGFB2 TGFBR1
14
Show member pathways
12.64 SMAD4 TGFB1 TGFB2 TGFBR1 TGFBR2
15
Show member pathways
12.62 NOS3 TGFB1 TGFBR1 TGFBR2 VEGFA
16
Show member pathways
12.59 CXCL8 TGFB1 TGFB2 TGFBR1 TGFBR2
17
Show member pathways
12.56 BMPR2 SMAD4 TGFB1 TGFB2 TGFBR1 TGFBR2
18 12.5 SMAD4 TGFB1 TGFB2 TGFBR1 TGFBR2
19
Show member pathways
12.38 SMAD4 TGFB1 TGFBR1 TGFBR2 TGIF1
20
Show member pathways
12.31 SMAD4 TGFB1 TGFB2 TGFBR1 TGFBR2
21 12.3 BMP6 BMPR2 ENG SMAD4 TGFB1 TGFB2
22 12.26 CXCL8 TGFB1 TGFB2 TGFBR1 TGFBR2
23 12.26 SMAD4 TGFB1 TGFB2 TGFBR1 TGFBR2 VEGFA
24 12.24 BMPR2 SMAD4 TGFBR1 TGFBR2 VEGFA
25
Show member pathways
12.22 SMAD4 TGFB1 TGFB2 TGFBR1 TGFBR2 VEGFA
26 12.19 BMP6 BMPR2 SMAD4 TGFB1 TGFB2 TGFBR1
27
Show member pathways
12.18 SMAD4 TGFB1 TGFB2 TGFBR1 TGFBR2
28 12.15 SMAD4 TGFB1 TGFBR1 TGFBR2 TGIF1
29 12.11 TGFB1 TGFB2 TGFBR1 TGFBR2
30 12.01 BMP6 SMAD4 TGFB1 TGFB2 TGFBR1 TGFBR2
31
Show member pathways
11.98 CXCL8 SMAD4 TGFB1 TGFBR1 TGFBR2
32 11.97 BMP6 ENG TGFB1 TGFB2
33
Show member pathways
11.97 SMAD4 TGFB1 TGFB2 TGFBR1 TGFBR2
34 11.94 CXCL8 TGFB1 TGFB2 VEGFA
35 11.89 CXCL8 TGFB1 TGFB2
36 11.89 ACVRL1 ENG SMAD4 TGFB1 TGFB2 TGFBR1
37 11.88 CXCL8 NOS3 TGFB1
38
Show member pathways
11.87 BMPR2 SMAD4 TGFB1 TGFBR1 TGFBR2
39 11.83 SMAD4 TGFB1 TGFBR1 TGFBR2
40
Show member pathways
11.82 SMAD4 TGFB1 TGFBR1 TGFBR2
41 11.78 BMP6 TGFB1 TGFB2 VEGFA
42 11.75 SMAD4 TGFBR1 TGFBR2
43
Show member pathways
11.75 BMP6 BMPR2 SMAD4
44 11.75 ANGPT2 ENG NOS3 TGFB1 TGFB2 TGFBR1
45 11.75 CXCL8 NOS3 SMAD4 TGFB1 TGFB2 TGFBR1
46
Show member pathways
11.71 SMAD4 TGFB1 TGFB2 TGFBR1 TGFBR2
47 11.7 ENG SMAD4 VEGFA
48 11.66 SMAD4 TGFB1 TGFBR1 TGFBR2
49 11.64 CXCL8 SMAD4 TGFB1 TGFBR1 VEGFA
50 11.64 ENG SMAD4 TGFB1 TGFBR1 TGFBR2 TGIF1

GO Terms for Hereditary Hemorrhagic Telangiectasia

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

# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.8 ACVRL1 BMPR2 ENG TGFB1 TGFBR1 TGFBR2
2 extracellular space GO:0005615 9.7 ANGPT2 BMP6 BMPR2 COL5A1 CXCL8 ENG
3 caveola GO:0005901 9.5 BMPR2 NOS3 TGFBR2
4 platelet alpha granule lumen GO:0031093 9.46 TGFB1 TGFB2 VEGFA VWF
5 transforming growth factor beta receptor complex GO:0070022 8.8 ENG TGFBR1 TGFBR2
6 extracellular region GO:0005576 10.02 ANGPT2 BMP6 COL5A1 CXCL8 GDF2 TGFB1

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

(show top 50) (show all 104)
# Name GO ID Score Top Affiliating Genes
1 SMAD protein signal transduction GO:0060395 9.98 BMP6 GDF2 SMAD4 TGFB1 TGFB2
2 wound healing GO:0042060 9.97 TGFB1 TGFB2 TGFBR1 TGFBR2
3 palate development GO:0060021 9.97 SMAD4 TGFB2 TGFBR1 TGFBR2
4 vasculogenesis GO:0001570 9.97 ENG GDF2 TGFB1 TGFBR2 VEGFA
5 anterior/posterior pattern specification GO:0009952 9.96 BMPR2 SMAD4 TGFBR1
6 lung development GO:0030324 9.96 NOS3 TGFBR2 VEGFA
7 cellular response to mechanical stimulus GO:0071260 9.95 BMP6 ENG TGFB1
8 cartilage development GO:0051216 9.95 BMP6 GDF2 TGFBR2
9 response to wounding GO:0009611 9.94 TGFB1 TGFB2 VWF
10 response to glucose GO:0009749 9.94 ANGPT2 TGFB1 TGFBR2
11 activation of protein kinase activity GO:0032147 9.94 TGFB2 TGFBR2 VEGFA
12 signal transduction by protein phosphorylation GO:0023014 9.94 ACVRL1 BMPR2 TGFBR1 TGFBR2
13 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.93 TGFB1 TGFBR1 TGFBR2
14 positive regulation of epithelial cell proliferation GO:0050679 9.93 BMP6 TGFB1 VEGFA
15 cellular iron ion homeostasis GO:0006879 9.93 BMP6 GDF2 SMAD4
16 positive regulation of epithelial to mesenchymal transition GO:0010718 9.93 SMAD4 TGFB1 TGFB2 TGFBR1 TGFBR2
17 cellular response to transforming growth factor beta stimulus GO:0071560 9.92 ACVRL1 TGFB1 TGFBR1
18 positive regulation of osteoblast differentiation GO:0045669 9.92 BMP6 BMPR2 GDF2
19 cellular response to growth factor stimulus GO:0071363 9.92 ANGPT2 TGFB1 TGIF1
20 cell development GO:0048468 9.91 GDF2 TGFB1 TGFB2
21 outflow tract morphogenesis GO:0003151 9.91 BMPR2 TGFBR2 VEGFA
22 heart morphogenesis GO:0003007 9.91 COL5A1 TGFB2 VEGFA
23 branching involved in blood vessel morphogenesis GO:0001569 9.91 ENG GDF2 TGFBR2 VEGFA
24 cellular response to BMP stimulus GO:0071773 9.91 ACVRL1 BMP6 BMPR2 GDF2 SMAD4
25 positive regulation of cell division GO:0051781 9.9 TGFB1 TGFB2 VEGFA
26 animal organ regeneration GO:0031100 9.9 ANGPT2 TGFB1 TGFBR2
27 collagen fibril organization GO:0030199 9.9 COL5A1 TGFB2 TGFBR1
28 positive regulation of protein secretion GO:0050714 9.9 BMP6 TGFB1 TGFB2
29 negative regulation of blood vessel endothelial cell migration GO:0043537 9.9 ACVRL1 ANGPT2 GDF2 TGFB1
30 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.89 ACVRL1 BMPR2 TGFBR1 TGFBR2
31 positive regulation of BMP signaling pathway GO:0030513 9.89 ACVRL1 BMPR2 ENG GDF2 SMAD4
32 epithelial to mesenchymal transition GO:0001837 9.88 TGFB1 TGFB2 TGFBR1
33 positive regulation of epithelial cell migration GO:0010634 9.88 BMPR2 TGFB2 TGFBR2
34 negative regulation of endothelial cell proliferation GO:0001937 9.88 ACVRL1 GDF2 TGFBR1
35 positive regulation of blood vessel endothelial cell migration GO:0043536 9.88 NOS3 TGFB1 VEGFA
36 ventricular septum morphogenesis GO:0060412 9.88 BMPR2 SMAD4 TGFB2 TGFBR1 TGFBR2
37 positive regulation of endothelial cell proliferation GO:0001938 9.88 ACVRL1 BMP6 BMPR2 GDF2 TGFBR1 VEGFA
38 positive regulation of bone mineralization GO:0030501 9.87 BMP6 BMPR2 TGFB1
39 activin receptor signaling pathway GO:0032924 9.87 ACVRL1 BMPR2 GDF2 TGFBR1
40 blood vessel remodeling GO:0001974 9.86 ACVRL1 BMPR2 NOS3
41 blood vessel morphogenesis GO:0048514 9.86 ACVRL1 ANGPT2 GDF2
42 positive regulation of angiogenesis GO:0045766 9.86 ACVRL1 ANGPT2 CXCL8 ENG GDF2 NOS3
43 artery morphogenesis GO:0048844 9.85 ENG TGFBR1 VEGFA
44 positive regulation of SMAD protein import into nucleus GO:0060391 9.85 BMP6 SMAD4 TGFB1 TGFBR1
45 regulation of transforming growth factor beta receptor signaling pathway GO:0017015 9.84 ENG SMAD4 TGFB1
46 endocardial cushion morphogenesis GO:0003203 9.83 ACVRL1 ENG TGFB2
47 ventricular trabecula myocardium morphogenesis GO:0003222 9.83 ENG TGFB2 TGFBR1
48 positive regulation of endothelial cell differentiation GO:0045603 9.83 ACVRL1 BMP6 GDF2
49 outflow tract septum morphogenesis GO:0003148 9.83 BMPR2 ENG SMAD4 TGFB2 TGFBR2
50 negative regulation of DNA biosynthetic process GO:2000279 9.82 ACVRL1 BMPR2 GDF2

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 protein heterodimerization activity GO:0046982 9.97 BMP6 SMAD4 TGFB1 TGFB2 VEGFA
2 growth factor activity GO:0008083 9.85 BMP6 GDF2 TGFB1 TGFB2 VEGFA
3 cytokine activity GO:0005125 9.8 BMP6 CXCL8 GDF2 TGFB1 TGFB2 VEGFA
4 transforming growth factor beta receptor binding GO:0005160 9.71 BMP6 GDF2 TGFB1 TGFB2
5 SMAD binding GO:0046332 9.69 ACVRL1 TGFBR1 TGFBR2
6 type I transforming growth factor beta receptor binding GO:0034713 9.61 ENG TGFB1 TGFBR2
7 activin binding GO:0048185 9.57 ACVRL1 ENG
8 I-SMAD binding GO:0070411 9.56 SMAD4 TGFBR1
9 transforming growth factor beta binding GO:0050431 9.56 ACVRL1 ENG TGFBR1 TGFBR2
10 BMP binding GO:0036122 9.54 BMPR2 ENG
11 transforming growth factor beta-activated receptor activity GO:0005024 9.54 ACVRL1 TGFBR1 TGFBR2
12 BMP receptor activity GO:0098821 9.52 ACVRL1 BMPR2
13 transforming growth factor beta receptor activity, type I GO:0005025 9.49 ACVRL1 TGFBR1
14 type III transforming growth factor beta receptor binding GO:0034714 9.48 TGFB1 TGFB2
15 signal transducer, downstream of receptor, with serine/threonine kinase activity GO:0004702 9.46 ACVRL1 BMPR2 TGFBR1 TGFBR2
16 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.26 ACVRL1 BMPR2 TGFBR1 TGFBR2
17 type II transforming growth factor beta receptor binding GO:0005114 8.92 ENG TGFB1 TGFB2 TGFBR1
18 protein homodimerization activity GO:0042803 10.02 ENG SMAD4 TGFB1 TGFB2 VEGFA VWF

Sources for Hereditary Hemorrhagic Telangiectasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
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70 UMLS via Orphanet
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