HHT
MCID: HRD008
MIFTS: 72

Hereditary Hemorrhagic Telangiectasia (HHT) malady

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

Aliases & Descriptions for Hereditary Hemorrhagic Telangiectasia:

Name: Hereditary Hemorrhagic Telangiectasia 38 12 71 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 24 29
Osler Hemorrhagic Telangiectasia Syndrome 12
Telangiectasia, Hereditary Hemorrhagic 42
Telangiectasia Hereditary Hemorrhagic 52
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:



External Ids:

Disease Ontology 12 DOID:1270
ICD10 33 I78.0
ICD9CM 35 448.0
MeSH 42 D013683
NCIt 47 C35064
Orphanet 56 ORPHA774
ICD10 via Orphanet 34 I78.0
UMLS via Orphanet 70 C0039445
UMLS 69 C0039445

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 acvrl1-related hereditary hemorrhagic telangiectasia, and has symptoms including seizures, hemoptysis and portal hypertension. 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 skin, and related phenotypes are Increased shRNA abundance (Z-score > 2) and cardiovascular system

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

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.

Wikipedia : 71 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 109)
id Related Disease Score Top Affiliating Genes
1 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 12.5
2 acvrl1-related hereditary hemorrhagic telangiectasia 12.1
3 eng-related hereditary hemorrhagic telangiectasia 12.1
4 gdf2-related hereditary hemorrhagic telangiectasia 12.0
5 smad4-related hereditary hemorrhagic telangiectasia 12.0
6 telangiectasia, hereditary hemorrhagic, type 1 11.8
7 pulmonary arteriovenous malformation 11.4
8 telangiectasia, hereditary hemorrhagic, type 4 11.1
9 telangiectasia, hereditary hemorrhagic, type 3 11.0
10 telangiectasia, hereditary hemorrhagic, type 2 11.0
11 pulmonary hypertension, familial primary, 1, with or without hht 11.0
12 telangiectasia, hereditary hemorrhagic, type 5 11.0
13 arteriovenous malformation 10.7
14 hepatitis 10.5
15 vascular malformation 10.4
16 pulmonary surfactant protein b, deficiency of 10.3 ACVRL1 ENG
17 x-linked leigh syndrome 10.3 ACVRL1 ENG SMAD4
18 cerebritis 10.3
19 pulmonary venoocclusive disease 1 10.3 ACVRL1 BMPR2 ENG
20 joubert syndrome and related disorders 10.3 ACVRL1 BMPR2 ENG
21 glomerulosclerosis, focal segmental, 7 10.3 ENG SMAD4 TGFB1
22 aneurysm 10.2
23 stevens-johnson syndrome/toxic epidermal necrolysis 10.2 BMP6 TGFB1 VEGFA
24 glycerol kinase deficiency, adult form 10.2 BMP6 ENG VEGFA
25 discharging ear 10.2 BMP6 TGFB1 TGFB2
26 endotheliitis 10.2
27 mitral valve stenosis 10.2 ENG VEGFA VWF
28 upper respiratory tract disease 10.2 TGFB1 TGFB2 VEGFA
29 febrile ulceronecrotic mucha-habermann disease 10.2 TGFBR1 TGFBR2
30 arteriovenous fistula 10.2
31 pancreatitis 10.2
32 hyperinsulinism 10.2 ANGPT2 TGFB2 VEGFA
33 tooth erosion 10.1 ACVRL1 ENG VEGFA VWF
34 zellweger syndrome 10.1 NOS3 VEGFA VWF
35 adult infiltrating astrocytic neoplasm 10.1 ANGPT2 TGFB2 VEGFA
36 infective dermatitis associated with htlv-1 10.1 TGFBR1 TGFBR2
37 intellectual developmental disorder with persistence of fetal hemoglobin 10.1 TGFB2 TGFBR1 TGFBR2
38 pulmonary hypertension 10.1
39 weber syndrome 10.1
40 oppositional defiant disorder 10.1 NOS3 VEGFA VWF
41 mass syndrome 10.1 BMP6 TGFB1 TGFBR1 TGFBR2
42 algoneurodystrophy 10.1 TGFB2 TGFBR1 TGFBR2
43 herpes simplex 10.1 COL5A1 TGFB1 VWF
44 tmem231-related meckel syndrome 10.1 TGFB2 TGFBR1 TGFBR2
45 chronic polyneuropathy 10.1 SMAD4 TGFB2 TGFBR1 TGFBR2
46 proctitis 10.1 PDGFRA SMAD4 TGFB1 VEGFA
47 endemic typhus 10.1 TGFB1 TGFB2 TGFBR1 TGFBR2
48 citrullinemia, type ii, neonatal-onset 10.0 ANGPT2 NOS3 VEGFA
49 myocardial infarction 10.0
50 liver disease 10.0

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 seizures 56 32 Occasional (29-5%) HP:0001250
2 hemoptysis 56 32 Occasional (29-5%) HP:0002105
3 portal hypertension 56 32 Frequent (79-30%) HP:0001409
4 pulmonary embolism 56 32 Occasional (29-5%) HP:0002204
5 transient ischemic attack 56 32 Occasional (29-5%) HP:0002326
6 cavernous hemangioma 56 32 Frequent (79-30%) HP:0001048
7 congestive heart failure 56 32 Occasional (29-5%) HP:0001635
8 cirrhosis 56 32 Occasional (29-5%) HP:0001394
9 cholelithiasis 56 32 Occasional (29-5%) HP:0001081
10 microcytic anemia 56 32 Frequent (79-30%) HP:0001935
11 venous thrombosis 56 32 Occasional (29-5%) HP:0004936
12 migraine 56 32 Frequent (79-30%) HP:0002076
13 spontaneous hematomas 56 32 Frequent (79-30%) HP:0007420
14 conjunctival telangiectasia 56 32 Occasional (29-5%) HP:0000524
15 hematuria 56 32 Occasional (29-5%) HP:0000790
16 visceral angiomatosis 56 32 Frequent (79-30%) HP:0100761
17 gastrointestinal hemorrhage 56 32 Occasional (29-5%) HP:0002239
18 amblyopia 56 32 Occasional (29-5%) HP:0000646
19 nephrolithiasis 56 32 Occasional (29-5%) HP:0000787
20 epistaxis 56 32 Very frequent (99-80%) HP:0000421
21 hepatic failure 56 32 Occasional (29-5%) HP:0001399
22 esophageal varix 56 32 Occasional (29-5%) HP:0002040
23 retinal telangiectasia 56 32 Occasional (29-5%) HP:0007763
24 subarachnoid hemorrhage 56 32 Occasional (29-5%) HP:0002138
25 intestinal polyposis 56 32 Occasional (29-5%) HP:0200008
26 cholecystitis 56 32 Frequent (79-30%) HP:0001082
27 cerebral hemorrhage 56 32 Occasional (29-5%) HP:0001342
28 peripheral arteriovenous fistula 56 32 Occasional (29-5%) HP:0100784
29 pulmonary hypertension 56 Occasional (29-5%)
30 arteriovenous malformation 56 Frequent (79-30%)
31 mucosal telangiectasiae 56 Very frequent (99-80%)
32 teleangiectasia of the skin 56 Very frequent (99-80%)
33 abnormality of the cerebral vasculature 56 Occasional (29-5%)
34 abnormality of cardiovascular system physiology 56 Frequent (79-30%)
35 pulmonary arterial hypertension 32 HP:0002092
36 telangiectasia of the skin 32 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 10.34 SMAD4 TGFB2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.34 TGFBR1 BMP6 SMAD4 TGFBR2 TGFB2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-113 10.34 ACVRL1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-114 10.34 BMP6
5 Increased shRNA abundance (Z-score > 2) GR00366-A-115 10.34 TGFB2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-12 10.34 TGFBR2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-121 10.34 TGFBR2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-123 10.34 TGFBR2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-129 10.34 PDGFRA
10 Increased shRNA abundance (Z-score > 2) GR00366-A-130 10.34 ACVRL1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-132 10.34 TGFBR2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-133 10.34 TGFB2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-138 10.34 BMP6 TGFB2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-146 10.34 PDGFRA
15 Increased shRNA abundance (Z-score > 2) GR00366-A-147 10.34 TGFBR1 TGFBR2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-152 10.34 TGFBR2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-162 10.34 TGFBR2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-164 10.34 TGFBR2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-168 10.34 ACVRL1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-169 10.34 TGFBR1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-186 10.34 TGFBR2
22 Increased shRNA abundance (Z-score > 2) GR00366-A-188 10.34 TGFBR2
23 Increased shRNA abundance (Z-score > 2) GR00366-A-196 10.34 TGFB2
24 Increased shRNA abundance (Z-score > 2) GR00366-A-199 10.34 ACVRL1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-207 10.34 PDGFRA
26 Increased shRNA abundance (Z-score > 2) GR00366-A-208 10.34 BMP6
27 Increased shRNA abundance (Z-score > 2) GR00366-A-21 10.34 SMAD4
28 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.34 BMP6 TGFBR2
29 Increased shRNA abundance (Z-score > 2) GR00366-A-215 10.34 TGFB2
30 Increased shRNA abundance (Z-score > 2) GR00366-A-22 10.34 TGFBR1
31 Increased shRNA abundance (Z-score > 2) GR00366-A-25 10.34 SMAD4
32 Increased shRNA abundance (Z-score > 2) GR00366-A-32 10.34 PDGFRA
33 Increased shRNA abundance (Z-score > 2) GR00366-A-36 10.34 TGFBR1
34 Increased shRNA abundance (Z-score > 2) GR00366-A-37 10.34 TGFBR1
35 Increased shRNA abundance (Z-score > 2) GR00366-A-39 10.34 TGFBR2
36 Increased shRNA abundance (Z-score > 2) GR00366-A-42 10.34 SMAD4 TGFB2
37 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10.34 SMAD4 ACVRL1
38 Increased shRNA abundance (Z-score > 2) GR00366-A-46 10.34 SMAD4
39 Increased shRNA abundance (Z-score > 2) GR00366-A-47 10.34 BMP6
40 Increased shRNA abundance (Z-score > 2) GR00366-A-49 10.34 PDGFRA
41 Increased shRNA abundance (Z-score > 2) GR00366-A-50 10.34 TGFB2
42 Increased shRNA abundance (Z-score > 2) GR00366-A-54 10.34 SMAD4
43 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.34 ACVRL1
44 Increased shRNA abundance (Z-score > 2) GR00366-A-7 10.34 TGFBR2
45 Increased shRNA abundance (Z-score > 2) GR00366-A-73 10.34 SMAD4 TGFBR2 TGFB2 ACVRL1 PDGFRA
46 Increased shRNA abundance (Z-score > 2) GR00366-A-74 10.34 SMAD4
47 Increased shRNA abundance (Z-score > 2) GR00366-A-76 10.34 BMP6
48 Increased shRNA abundance (Z-score > 2) GR00366-A-81 10.34 SMAD4 TGFBR2 ACVRL1
49 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.34 TGFBR1 ACVRL1
50 Increased shRNA abundance (Z-score > 2) GR00366-A-88 10.34 TGFBR1
51 Decreased viability GR00107-A-1 10.23 TGFBR2
52 Decreased viability GR00173-A 10.23 PDGFRA BMPR2
53 Decreased viability GR00221-A-1 10.23 TGFBR1 TGFBR2 PDGFRA ACVRL1 BMPR2
54 Decreased viability GR00221-A-2 10.23 ACVRL1
55 Decreased viability GR00221-A-3 10.23 PDGFRA TGFBR2 ACVRL1 BMPR2
56 Decreased viability GR00221-A-4 10.23 TGFBR1 TGFBR2 PDGFRA ACVRL1 BMPR2
57 Decreased viability GR00301-A 10.23 BMPR2

MGI Mouse Phenotypes related to Hereditary Hemorrhagic Telangiectasia:

44 (show all 21)
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.53 ACVRL1 ANGPT2 BMPR2 COL5A1 ENG GDF2
2 digestive/alimentary MP:0005381 10.42 TGFBR2 VEGFA VWF ACVRL1 ANGPT2 ENG
3 growth/size/body region MP:0005378 10.42 ACVRL1 BMP6 BMPR2 COL5A1 ENG NOS3
4 cellular MP:0005384 10.4 BMPR2 NOS3 PDGFRA SMAD1 SMAD4 TFAP2A
5 homeostasis/metabolism MP:0005376 10.4 ACVRL1 ANGPT2 BMPR2 ENG GDF2 NOS3
6 embryo MP:0005380 10.38 ACVRL1 BMPR2 COL5A1 ENG PDGFRA SMAD1
7 mortality/aging MP:0010768 10.38 TGFB1 TGFB2 TGFBR1 TGFBR2 VEGFA VWF
8 hematopoietic system MP:0005397 10.35 SMAD4 TFAP2A TGFB1 TGFB2 TGFBR1 TGFBR2
9 immune system MP:0005387 10.32 ANGPT2 BMPR2 GDF2 NOS3 PDGFRA SMAD4
10 craniofacial MP:0005382 10.28 SMAD4 TFAP2A TGFB1 TGFB2 TGFBR2 VEGFA
11 endocrine/exocrine gland MP:0005379 10.26 TGFBR2 VEGFA NOS3 PDGFRA SMAD1 SMAD4
12 nervous system MP:0003631 10.25 ACVRL1 BMPR2 ENG NOS3 PDGFRA SMAD1
13 muscle MP:0005369 10.23 ACVRL1 BMPR2 ENG NOS3 PDGFRA SMAD1
14 integument MP:0010771 10.15 ANGPT2 COL5A1 ENG PDGFRA SMAD4 TFAP2A
15 normal MP:0002873 10.15 ACVRL1 BMPR2 COL5A1 ENG NOS3 PDGFRA
16 neoplasm MP:0002006 9.98 PDGFRA SMAD1 SMAD4 TGFB1 TGFBR1 TGFBR2
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 reproductive system MP:0005389 9.91 NOS3 PDGFRA SMAD1 SMAD4 TGFB1 TGFB2
20 skeleton MP:0005390 9.77 BMP6 BMPR2 GDF2 NOS3 PDGFRA SMAD1
21 vision/eye MP:0005391 9.28 ANGPT2 COL5A1 GDF2 NOS3 TFAP2A 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 65)
id 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 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
Tamoxifen Approved Phase 2 10540-29-1 2733526
15
Octreotide Approved, Investigational Phase 2 83150-76-9 383414 6400441
16
Somatostatin Approved Phase 2 38916-34-6, 51110-01-1 53481605
17
Ranibizumab Approved Phase 1, Phase 2 347396-82-1 459903
18
Timolol Approved Phase 2 26839-75-8 33624 5478
19
Iron Approved Phase 2 7439-89-6 23925
20
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492
21
Peginterferon alfa-2b Approved Phase 2 99210-65-8, 215647-85-1
22 Pharmaceutical Solutions Phase 2,Phase 1
23 Immunosuppressive Agents Phase 2,Phase 1
24 Antihypertensive Agents Phase 2
25 Antineoplastic Agents, Hormonal Phase 2
26 Bone Density Conservation Agents Phase 2
27 Estrogen Antagonists Phase 2
28 Estrogen Receptor Modulators Phase 2
29 Estrogens Phase 2
30 Hormone Antagonists Phase 2
31 Hormones Phase 2
32 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
33 Selective Estrogen Receptor Modulators Phase 2
34 Gastrointestinal Agents Phase 2
35 Liver Extracts Phase 2
36 Adrenergic Agents Phase 2
37 Adrenergic Antagonists Phase 2
38 Adrenergic beta-Antagonists Phase 2
39 Aluminum hydroxide, magnesium hydroxide, simethicone drug combination Phase 2
40 Anti-Arrhythmia Agents Phase 2
41 Neurotransmitter Agents Phase 2
42 Ophthalmic Solutions Phase 2
43 TEMPO Phase 2
44 Tetrahydrozoline Phase 2
45 Calcineurin Inhibitors Phase 2
46 Antiviral Agents Phase 2
47 Interferon-alpha Phase 2
48 interferons Phase 2
49 Tin Fluorides Phase 2
50 Pomalidomide Approved Phase 1 19171-19-8

Interventional clinical trials:

(show top 50) (show all 54)
id Name Status NCT ID Phase
1 Investigation of Coagulation Parameters in Hereditary Haemorrhagic Telangiectasia Completed NCT00230659 Phase 4
2 Intranasal Bevacizumab for HHT-Related Epistaxis Recruiting NCT02389959 Phase 4
3 Tranexamic Acid and Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) Completed NCT01031992 Phase 3
4 Phase III Randomized, Placebo-Controlled, Crossover Study of Soy Protein Isolate for Hereditary Hemorrhagic Telangiectasia Completed NCT00004654 Phase 3
5 ATERO : A Randomised Study With Tranexamic Acid in Epistaxis of Rendu Osler Syndrome Completed NCT00355108 Phase 3
6 Treatment of Nasal Staphylococcus Aureus Colonization in Patients With HHT Not yet recruiting NCT02963129 Phase 3
7 Efficacy of a Bevacizumab Nasal Spray as a Treatment for Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) Terminated NCT02106520 Phase 2, Phase 3
8 Submucosal Bevacizumab for the Management of Recurrent Epistaxis in Patients With Hereditary Hemorrhagic Telangiectasia (HHT) Unknown status NCT01402531 Phase 2
9 Topical Bevacizumab for the Management of Recurrent Epistaxis in Patients With Hereditary Hemorrhagic Telangiectasia (HHT) Unknown status NCT01397695 Phase 2
10 Treatment of Hereditary Hemorrhagic Telangiectasia of the Nasal Mucosa by Intranasal Bevacizumab : Search for Effective Dose Unknown status NCT02157987 Phase 1, Phase 2
11 Anti-Estrogen Therapy for Hereditary Hemorrhagic Telangiectasia A Double-Blind Placebo-Controlled Clinical Trial Completed NCT00375622 Phase 2
12 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
13 Intranasal Submucosal Bevacizumab for Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) Completed NCT01314274 Phase 2
14 Thalidomide Reduces Arteriovenous Malformation Related Gastrointestinal Bleeding Completed NCT00389935 Phase 2
15 North American Study of Epistaxis in HHT Completed NCT01408030 Phase 2
16 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
17 Treatment of Exudative and Vasogenic Chorioretinal Diseases Including Variants of AMD and Other CNV Related Maculopathy Completed NCT00470977 Phase 1, Phase 2
18 Efficacy of a Timolol Nasal Spray as a Treatment for Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) - (TEMPO) Recruiting NCT02484716 Phase 2
19 Octreotide in Patients With GI Bleeding Due to Rendu-Osler-Weber Recruiting NCT02874326 Phase 2
20 Efficacy of Thalidomide in the Treatment of Hereditary Hemorrhagic Telangiectasia Active, not recruiting NCT01485224 Phase 2
21 Efficacy and Safety of a 0.1% Tacrolimus Nasal Ointment as a Treatment for Epistaxis in Hemorrhagic Hereditary Telangiectasia (HHT) Not yet recruiting NCT03152019 Phase 2
22 Phase 2 Study of PEG-Intron in Hereditary Hemorrhagic Telangiectasia Terminated NCT00588146 Phase 2
23 Evaluation of Pazopanib on Bleeding in Subjects With Hereditary Haemorrhagic Telangiectasia Terminated NCT02204371 Phase 2
24 Pomalidomide in Hereditary Hemorrhagic Telangiectasia and Transfusion-Dependent Vascular Ectasia: a Phase I Study Unknown status NCT02287558 Phase 1
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
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
28 Diet and Hereditary Haemorrhagic Telangiectasia Unknown status NCT01692015
29 Investigation of Plasma Proteins in Patients With Hereditary Haemorrhagic Telangiectasia and PAVMs Unknown status NCT00230672
30 Study of Endothelial Cells in Patients With Hereditary Haemorrhagic Telangiectasia Unknown status NCT00733629
31 Studies of White Blood Cells Derived From HHT Patients Unknown status NCT00230633
32 Pharmacogenomics in Pulmonary Arterial Hypertension Unknown status NCT00593905
33 Office-sclerotherapy for Epistaxis Due to Hereditary Hemorrhagic Telangiectasia Completed NCT01408732
34 Screening Behavior in Adults With Hereditary Hemorrhagic Telangiectasia Completed NCT00684879
35 Study of the Natural History and Genotype-Phenotype Correlations of Hereditary Hemorrhagic Telangiectasia Patients Completed NCT00004649
36 Studies of Hereditary Hemorrhagic Telangiectasia Completed NCT00004648
37 Hereditary Haemorrhagic Telangiectasia Flight Safety Study Completed NCT01590121
38 Frequency of Common Medical Conditions in People With and Without HHT Completed NCT02464644
39 Cerebral Hemorrhage Risk in Hereditary Hemorrhagic Telangiectasia Recruiting NCT01158807
40 Symptoms and Treatment Results in Hereditary Hemorrhagic Telangiectasia Recruiting NCT02690246
41 Graded TTCE for Post-Embolization PAVM Monitoring Recruiting NCT02936349
42 Iron Deficiency and Hereditary Haemorrhagic Telangiectasia Recruiting NCT01908543
43 Prospective Pilot Study of Floseal for the Treatment of Anterior Epistaxis in Patients With (HHT) Recruiting NCT02638012
44 Topical Anti-angiogenic Therapy for Telangiectasia in HHT: Proof of Concept Recruiting NCT01752049
45 Molecular Studies on Hereditary Haemorrhagic Telangiectasia Families Recruiting NCT00230620
46 Case Notes Review on Patients With Hereditary Haemorrhagic Telangiectasia Recruiting NCT00230685
47 Cardiopulmonary Exercise Testing to Evaluate Pulmonary AVMs Recruiting NCT02436213
48 Immunmodulation in Patients With HHT Recruiting NCT02983253
49 Registry for Vascular Anomalies Associated With Coagulopathy Recruiting NCT00576888
50 Institutional Registry of Haemorrhagic Hereditary Telangiectasia Recruiting NCT01761981

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, Skin, Brain, Lung, Heart, Endothelial, Testes
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 654)
id Title Authors Year
1
Central nervous system manganese induced lesions and clinical consequences in patients with hereditary hemorrhagic telangiectasia. ( 28521822 )
2017
2
Giant symptomatic aneurysm secondary to hereditary hemorrhagic telangiectasia of a main hepatic artery with aberrant origin in superior mesenteric artery. ( 28461180 )
2017
3
Mutation affecting the proximal promoter of Endoglin as the origin of hereditary hemorrhagic telangiectasia type 1. ( 28231770 )
2017
4
A Survey of Pulmonary Arteriovenous Malformation Screening, Management, and Follow-Up in Hereditary Hemorrhagic Telangiectasia Centers of Excellence. ( 28188364 )
2017
5
Hereditary Hemorrhagic Telangiectasia Management. ( 28298578 )
2017
6
A Case Report of Hereditary Hemorrhagic Telangiectasia Diagnosed in a Podiatric Medical Patient. ( 28394685 )
2017
7
Liver transplantation for hereditary hemorrhagic telangiectasia: a systematic review. ( 28427830 )
2017
8
Lack of efficacy of topical timolol for cutaneous telangiectasias in patients with hereditary hemorrhagic telangiectasia: Results of a pilot study. ( 28411778 )
2017
9
7-day weighed food diaries suggest patients with hereditary hemorrhagic telangiectasia may spontaneously modify their diet to avoid nosebleed precipitants. ( 28347346 )
2017
10
Is bevacizumab effective for reducing epistaxis in hereditary hemorrhagic telangiectasia? ( 27796042 )
2017
11
Pulmonary Hypertension Prevalence and Prognosis in a Cohort of Patients with Hereditary Hemorrhagic Telangiectasia Undergoing Embolization of pAVMs. ( 28375020 )
2017
12
High-Output Heart Failure Contributing to Recurrent Epistaxis Kiesselbach Area Syndrome in a Patient With Hereditary Hemorrhagic Telangiectasia. ( 28210642 )
2017
13
Selective effects of oral antiangiogenic tyrosine kinase inhibitors on an animal model of hereditary hemorrhagic telangiectasia. ( 28339142 )
2017
14
Endoscopic-guided coblation treatment of nasal telangiectasias in hereditary hemorrhagic telangiectasia: "How I do it". ( 28490409 )
2017
15
Pregnancy and Mesenchimal Dysplasias (Marfan Syndrome, Ehlers-danlos Syndrome, Hereditary Hemorrhagic Telangiectasia). ( 28482718 )
2017
16
Comprehensive management of hereditary hemorrhagic telangiectasia. ( 27841771 )
2017
17
Macro- and microcirculation patterns of intrahepatic blood flow changes in patients with hereditary hemorrhagic telangiectasia. ( 28210085 )
2017
18
Cerebral hemorrhage in monozygotic twins with hereditary hemorrhagic telangiectasia: case report and hemorrhagic risk evaluation. ( 28524787 )
2017
19
Thalidomide for Epistaxis in Patients with Hereditary Hemorrhagic Telangiectasia: A Preliminary Study. ( 28418273 )
2017
20
Hereditary hemorrhagic telangiectasia with hemothorax in pregnancy. ( 28360478 )
2017
21
Depression and post-traumatic stress disorder in individuals with hereditary hemorrhagic telangiectasia: A cross-sectional survey. ( 28314138 )
2017
22
Influence of temporary nasal occlusion (tNO) on epistaxis frequency in patients with hereditary hemorrhagic telangiectasia (HHT). ( 28070641 )
2017
23
Effect of Center Volume on Outcomes in Hospitalized Patients With Hereditary Hemorrhagic Telangiectasia. ( 27814895 )
2016
24
Mucocutaneous Telangiectasia as a Diagnostic Clue of Hereditary Hemorrhagic Telangiectasia: An Activin Receptor-Like Kinase-1 Mutation in a Korean Patient. ( 27081284 )
2016
25
Effect of Topical Intranasal Therapy on Epistaxis Frequency in Patients With Hereditary Hemorrhagic Telangiectasia: A Randomized Clinical Trial. ( 27599329 )
2016
26
Hereditary Hemorrhagic Telangiectasia: A Primer for Critical Care Nurses. ( 27252100 )
2016
27
Nasal closure for the treatment of epistaxis secondary to hereditary hemorrhagic telangiectasia. ( 27079134 )
2016
28
Amplatzer Vascular Plugs Versus Coils for Embolization of Pulmonary Arteriovenous Malformations in Patients with Hereditary Hemorrhagic Telangiectasia. ( 27150804 )
2016
29
Utility of MDCT MIP Postprocessing Reconstruction Images in Children With Hereditary Hemorrhagic Telangiectasia. ( 26953767 )
2016
30
High Rates of Bleeding Complications among Hospitalized Patients with Hereditary Hemorrhagic Telangiectasia in the United States. ( 27387823 )
2016
31
Defective fluid shear stress mechanotransduction mediates hereditary hemorrhagic telangiectasia. ( 27646277 )
2016
32
Can Iron Treatments Aggravate Epistaxis in Some Patients With Hereditary Hemorrhagic Telangiectasia? ( 27107394 )
2016
33
Evidence for the founder effect of a novel ACVRL1 splice-site mutation in Hungarian hereditary hemorrhagic telangiectasia families. ( 27291782 )
2016
34
Neurological involvement in hereditary hemorrhagic telangiectasia. ( 27059009 )
2016
35
Cancer incidence in patients with hereditary hemorrhagic telangiectasia. ( 27638773 )
2016
36
Hereditary Hemorrhagic Telangiectasia. ( 27514597 )
2016
37
Common bleeding disorders affecting individuals with Hereditary Hemorrhagic Telangiectasia. ( 26833168 )
2016
38
Bevacizumab and gastrointestinal bleeding in hereditary hemorrhagic telangiectasia. ( 28070235 )
2016
39
In Reply: Lower Risk of Intracranial Arteriovenous Malformation Hemorrhage in Patients With Hereditary Hemorrhagic Telangiectasia. ( 27580480 )
2016
40
Improvement in hereditary hemorrhagic telangiectasia after treatment with the multi-kinase inhibitor Sunitinib. ( 27525726 )
2016
41
Mutation analysis in Norwegian families with hereditary hemorrhagic telangiectasia: founder mutations in ACVRL1. ( 25970827 )
2016
42
Natural history of brain capillary vascular malformations in hereditary hemorrhagic telangiectasia patients. ( 26919971 )
2016
43
Effect of systemic bevacizumab in severe hereditary hemorrhagic telangiectasia associated with bleeding. ( 26994402 )
2016
44
Hereditary hemorrhagic telangiectasia patient presenting with brain abscess due to silent pulmonary arteriovenous malformation. ( 28292107 )
2016
45
De Novo Vascular Lesions After Liver Transplant in a Case With Hereditary Hemorrhagic Telangiectasia and Fibropolycystic Liver Disease: Long-Term Follow-Up With Magnetic Resonance Imaging and Magnetic Resonance Angiography. ( 28004998 )
2016
46
Splenic Involvement in Hereditary Hemorrhagic Telangiectasia. ( 27807449 )
2016
47
Unilateral Endoscopic Endonasal Surgery for Resection of an Olfactory Schwannoma of the Anterior Cranial Base in a Patient with Hereditary Hemorrhagic Telangiectasia. ( 26836699 )
2016
48
Update on Clinical Strategies in Hereditary Hemorrhagic Telangiectasia From an ENT Point of View. ( 27440131 )
2016
49
Open arterial reconstruction of multiple hepatic artery aneurysms in a patient with hereditary hemorrhagic telangiectasia: A case report. ( 27861387 )
2016
50
The Prevalence of Malformations of Cortical Development in a Pediatric Hereditary Hemorrhagic Telangiectasia Population. ( 28059706 )
2016

Variations for Hereditary Hemorrhagic Telangiectasia

ClinVar genetic disease variations for Hereditary Hemorrhagic Telangiectasia:

6 (show all 33)
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 GRCh37 Chromosome 9, 130588020: 130588023
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 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

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 67)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.9 ACVRL1 ANGPT2 BMP6 BMPR2 COL5A1 CXCL8
2
Show member pathways
13.79 BMP6 GDF2 NOS3 PDGFRA SMAD4 TGFB1
3
Show member pathways
13.72 ACVRL1 ANGPT2 BMP6 BMPR2 CXCL8 NOS3
4
Show member pathways
13.62 BMP6 GDF2 NOS3 PDGFRA SMAD4 TGFB1
5
Show member pathways
13.62 ANGPT2 BMP6 CXCL8 GDF2 PDGFRA SMAD1
6
Show member pathways
13.51 ACVRL1 ANGPT2 BMP6 BMPR2 CXCL8 GDF2
7
Show member pathways
13.33 BMP6 GDF2 NOS3 PDGFRA TGFB1 TGFB2
8
Show member pathways
13.3 ACVRL1 ANGPT2 BMP6 BMPR2 CXCL8 GDF2
9
Show member pathways
13.14 BMP6 COL5A1 GDF2 PDGFRA TGFB1 TGFB2
10
Show member pathways
13.09 BMP6 GDF2 PDGFRA TGFB1 TGFB2 TGFBR1
11
Show member pathways
12.97 CXCL8 SMAD4 TGFB1 TGFB2 TGFBR1 TGFBR2
12
Show member pathways
12.88 COL5A1 CXCL8 PDGFRA TGFB1 VEGFA
13 12.78 CXCL8 PDGFRA SMAD4 TGFB1 TGFB2 TGFBR1
14 12.76 PDGFRA TGFB1 TGFB2 TGFBR1 TGFBR2
15
Show member pathways
12.66 SMAD4 TGFB1 TGFB2 TGFBR1 TGFBR2
16 12.65 ANGPT2 NOS3 PDGFRA VEGFA VWF
17
Show member pathways
12.61 SMAD4 TGFB1 TGFB2 TGFBR1 TGFBR2
18 12.58 BMPR2 MIR205 PDGFRA TGFB2 VEGFA
19
Show member pathways
12.56 BMPR2 PDGFRA SMAD1 SMAD4 TGFB1 TGFB2
20 12.54 PDGFRA SMAD4 TGFB1 TGFB2 TGFBR1 TGFBR2
21 12.51 PDGFRA TGFB1 TGFB2 TGFBR1 TGFBR2
22
Show member pathways
12.45 SMAD4 TGFB1 TGFB2 TGFBR1 TGFBR2
23
Show member pathways
12.33 SMAD4 TGFB1 TGFBR1 TGFBR2
24
Show member pathways
12.32 SMAD4 TGFB1 TGFB2 TGFBR1 TGFBR2
25 12.32 SMAD4 TGFB1 TGFB2 TGFBR1 TGFBR2 VEGFA
26 12.28 BMPR2 SMAD1 SMAD4 TGFBR1 TGFBR2 VEGFA
27 12.26 BMP6 BMPR2 ENG SMAD1 SMAD4 TGFB1
28
Show member pathways
12.22 SMAD4 TGFB1 TGFB2 TGFBR1 TGFBR2 VEGFA
29
Show member pathways
12.2 SMAD4 TGFB1 TGFB2 TGFBR1 TGFBR2
30 12.16 BMP6 BMPR2 SMAD1 SMAD4 TGFB1 TGFB2
31 12.13 SMAD4 TGFB1 TGFBR1 TGFBR2
32 12.11 TGFB1 TGFB2 TGFBR1 TGFBR2
33
Show member pathways
12.03 SMAD1 SMAD4 TGFB1 TGFB2 TGFBR1 TGFBR2
34
Show member pathways
12.01 CXCL8 SMAD4 TGFB1 TGFBR1 TGFBR2
35 11.98 BMP6 ENG TGFB1 TGFB2
36 11.96 CXCL8 NOS3 TFAP2A TGFB1
37 11.95 CXCL8 TGFB1 TGFB2 VEGFA
38
Show member pathways
11.92 BMPR2 SMAD4 TGFB1 TGFBR1 TGFBR2
39 11.92 ACVRL1 ENG SMAD1 SMAD4 TGFB1 TGFB2
40 11.85 CXCL8 NOS3 SMAD4 TGFB1 TGFB2 TGFBR1
41 11.84 SMAD4 TGFB1 TGFBR1 TGFBR2
42
Show member pathways
11.84 BMP6 BMPR2 SMAD1 SMAD4
43
Show member pathways
11.82 SMAD4 TGFB1 TGFBR1 TGFBR2
44 11.81 BMP6 SMAD4 TGFB1 TGFB2 TGFBR1 TGFBR2
45 11.8 BMP6 GDF2 PDGFRA TGFB1 TGFB2
46 11.78 BMP6 TGFB1 TGFB2 VEGFA
47 11.77 SMAD4 TGFBR1 TGFBR2
48 11.72 ENG SMAD4 VEGFA
49 11.7 CXCL8 SMAD4 TGFB1 TGFBR1 VEGFA
50 11.7 ANGPT2 ENG NOS3 PDGFRA TGFB1 TGFB2

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 cell surface GO:0009986 9.7 ACVRL1 BMPR2 ENG TGFB1 TGFBR1 TGFBR2
2 extracellular space GO:0005615 9.65 ANGPT2 BMP6 BMPR2 COL5A1 CXCL8 ENG
3 platelet alpha granule lumen GO:0031093 9.56 TGFB1 TGFB2 VEGFA VWF
4 caveola GO:0005901 9.5 BMPR2 NOS3 TGFBR2
5 SMAD protein complex GO:0071141 9.37 SMAD1 SMAD4
6 transforming growth factor beta receptor complex GO:0070022 8.8 ENG TGFBR1 TGFBR2

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

(show top 50) (show all 111)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of osteoblast differentiation GO:0045669 9.99 BMP6 BMPR2 GDF2 SMAD1
2 positive regulation of epithelial to mesenchymal transition GO:0010718 9.97 SMAD4 TGFB1 TGFB2 TGFBR1 TGFBR2
3 positive regulation of endothelial cell proliferation GO:0001938 9.97 ACVRL1 BMP6 BMPR2 GDF2 TGFBR1 VEGFA
4 response to wounding GO:0009611 9.96 TGFB1 TGFB2 VWF
5 cellular response to mechanical stimulus GO:0071260 9.96 BMP6 ENG TGFB1
6 positive regulation of bone mineralization GO:0030501 9.96 BMP6 BMPR2 TFAP2A TGFB1
7 embryonic cranial skeleton morphogenesis GO:0048701 9.96 PDGFRA TFAP2A TGFBR1 TGFBR2
8 positive regulation of BMP signaling pathway GO:0030513 9.96 ACVRL1 BMPR2 ENG GDF2 SMAD4
9 response to glucose GO:0009749 9.95 ANGPT2 TGFB1 TGFBR2
10 positive regulation of epithelial cell proliferation GO:0050679 9.95 BMP6 TGFB1 VEGFA
11 blood vessel remodeling GO:0001974 9.95 ACVRL1 BMPR2 NOS3 TGFB2
12 transforming growth factor beta receptor signaling pathway GO:0007179 9.95 ACVRL1 SMAD1 SMAD4 TGFB1 TGFB2 TGFBR1
13 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.94 TGFB1 TGFBR1 TGFBR2
14 cellular response to transforming growth factor beta stimulus GO:0071560 9.94 ACVRL1 TGFB1 TGFBR1
15 branching involved in blood vessel morphogenesis GO:0001569 9.94 ENG GDF2 TGFBR2 VEGFA
16 cellular iron ion homeostasis GO:0006879 9.93 BMP6 GDF2 SMAD4
17 blood vessel development GO:0001568 9.93 COL5A1 TGFB2 TGFBR2
18 heart morphogenesis GO:0003007 9.93 COL5A1 TGFB2 VEGFA
19 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.93 ACVRL1 BMPR2 TGFBR1 TGFBR2
20 SMAD protein signal transduction GO:0060395 9.93 BMP6 GDF2 SMAD1 SMAD4 TGFB1 TGFB2
21 cell development GO:0048468 9.92 GDF2 TGFB1 TGFB2
22 animal organ regeneration GO:0031100 9.92 ANGPT2 TGFB1 TGFBR2
23 outflow tract morphogenesis GO:0003151 9.92 BMPR2 TGFBR2 VEGFA
24 positive regulation of cell division GO:0051781 9.92 TGFB1 TGFB2 VEGFA
25 activation of protein kinase activity GO:0032147 9.92 TGFB2 TGFBR2 VEGFA
26 activin receptor signaling pathway GO:0032924 9.92 ACVRL1 BMPR2 GDF2 TGFBR1
27 ventricular septum morphogenesis GO:0060412 9.92 BMPR2 SMAD4 TGFB2 TGFBR1 TGFBR2
28 epithelial to mesenchymal transition GO:0001837 9.91 TGFB1 TGFB2 TGFBR1
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 collagen fibril organization GO:0030199 9.9 COL5A1 TGFB2 TGFBR1
32 positive regulation of protein secretion GO:0050714 9.9 BMP6 TGFB1 TGFB2
33 positive regulation of epithelial cell migration GO:0010634 9.9 BMPR2 TGFB2 TGFBR2
34 positive regulation of SMAD protein import into nucleus GO:0060391 9.9 BMP6 SMAD4 TGFB1 TGFBR1
35 neuron fate commitment GO:0048663 9.89 SMAD4 TGFB2 TGFBR1
36 face morphogenesis GO:0060325 9.89 PDGFRA TGFB1 TGFB2
37 blood vessel morphogenesis GO:0048514 9.89 ACVRL1 ANGPT2 GDF2
38 negative regulation of endothelial cell proliferation GO:0001937 9.88 ACVRL1 GDF2 TGFBR1
39 artery morphogenesis GO:0048844 9.88 ENG TGFBR1 VEGFA
40 outflow tract septum morphogenesis GO:0003148 9.88 BMPR2 ENG SMAD4 TGFB2 TGFBR2
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 9.87 BMPR2 GDF2 SMAD1
43 endocardial cushion morphogenesis GO:0003203 9.87 ACVRL1 ENG TGFB2
44 ventricular trabecula myocardium morphogenesis GO:0003222 9.86 ENG TGFB2 TGFBR1
45 negative regulation of DNA biosynthetic process GO:2000279 9.86 ACVRL1 BMPR2 GDF2
46 positive regulation of endothelial cell differentiation GO:0045603 9.85 ACVRL1 BMP6 GDF2
47 atrioventricular valve morphogenesis GO:0003181 9.85 BMPR2 TGFB2 TGFBR2
48 response to cholesterol GO:0070723 9.85 TGFB1 TGFBR1 TGFBR2
49 retina vasculature development in camera-type eye GO:0061298 9.85 ACVRL1 BMPR2 PDGFRA
50 SMAD protein complex assembly GO:0007183 9.84 SMAD1 SMAD4 TGFB1

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

(show all 20)
id Name GO ID Score Top Affiliating Genes
1 protein heterodimerization activity GO:0046982 9.99 BMP6 SMAD1 SMAD4 TGFB1 TGFB2 VEGFA
2 protein homodimerization activity GO:0042803 9.97 ENG PDGFRA SMAD1 SMAD4 TFAP2A TGFB1
3 growth factor activity GO:0008083 9.89 BMP6 GDF2 TGFB1 TGFB2 VEGFA
4 cytokine activity GO:0005125 9.88 BMP6 CXCL8 GDF2 TGFB1 TGFB2 VEGFA
5 SMAD binding GO:0046332 9.73 ACVRL1 TGFBR1 TGFBR2
6 transforming growth factor beta receptor binding GO:0005160 9.73 BMP6 GDF2 TGFB1 TGFB2
7 I-SMAD binding GO:0070411 9.65 SMAD1 SMAD4 TGFBR1
8 type I transforming growth factor beta receptor binding GO:0034713 9.63 ENG TGFB1 TGFBR2
9 activin binding GO:0048185 9.59 ACVRL1 ENG
10 platelet-derived growth factor binding GO:0048407 9.58 COL5A1 PDGFRA
11 BMP binding GO:0036122 9.57 BMPR2 ENG
12 transforming growth factor beta binding GO:0050431 9.56 ACVRL1 ENG TGFBR1 TGFBR2
13 BMP receptor activity GO:0098821 9.55 ACVRL1 BMPR2
14 signal transducer, downstream of receptor, with serine/threonine kinase activity GO:0004702 9.55 ACVRL1 BMPR2 TGFB2 TGFBR1 TGFBR2
15 transforming growth factor beta receptor activity, type I GO:0005025 9.54 ACVRL1 TGFBR1
16 transforming growth factor beta-activated receptor activity GO:0005024 9.54 ACVRL1 TGFBR1 TGFBR2
17 type III transforming growth factor beta receptor binding GO:0034714 9.52 TGFB1 TGFB2
18 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.26 ACVRL1 BMPR2 TGFBR1 TGFBR2
19 type II transforming growth factor beta receptor binding GO:0005114 8.92 ENG TGFB1 TGFB2 TGFBR1
20 protein binding GO:0005515 10.51 ACVRL1 ANGPT2 BMPR2 CXCL8 ENG GDF2

Sources for Hereditary Hemorrhagic Telangiectasia

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10 dbSNP
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16 ExPASy
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48 NDF-RT
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