MCID: HRD008
MIFTS: 71

Hereditary Hemorrhagic Telangiectasia malady

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

Aliases & Classifications for Hereditary Hemorrhagic Telangiectasia

About this section
Sources:
11Disease Ontology, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 26GTR, 29ICD10, 30ICD10 via Orphanet, 31ICD9CM, 34LifeMap Discovery®, 38MeSH, 44NCIt, 47NIH Rare Diseases, 49Novoseek, 53Orphanet, 61SNOMED-CT, 67UMLS, 68UMLS via Orphanet, 70Wikipedia
See all MalaCards sources

Aliases & Descriptions for Hereditary Hemorrhagic Telangiectasia:

Name: Hereditary Hemorrhagic Telangiectasia 34 11 70 23 47 24 25 53 13 67
Hht 23 47 24 25 53
Rendu-Osler-Weber Disease 11 47 53
Osler-Weber-Rendu Disease 11 23 24
Osler Hemorrhagic Telangiectasia 24 26
Osler Hemorrhagic Telangiectasia Syndrome 11
Telangiectasia, Hereditary Hemorrhagic 38
 
Telangiectasia Hereditary Hemorrhagic 49
Osler-Weber-Rendu Syndrome 25
Osler Weber Rendu Syndrome 47
Osler-Rendu-Weber Disease 47
Rendu-Osler Disease 53
Orw Disease 47

Characteristics:

Orphanet epidemiological data:

53
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 (see table 2)...


Classifications:



External Ids:

Disease Ontology11 DOID:1270
ICD1029 I78.0
ICD9CM31 448.0
MeSH38 D013683
NCIt44 C35064
Orphanet53 ORPHA774
ICD10 via Orphanet30 I78.0
UMLS via Orphanet68 C0039445

Summaries for Hereditary Hemorrhagic Telangiectasia

About this section
Disease Ontology:11 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.

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 epistaxis, telangiectasia of the skin and cavernous hemangioma. An important gene associated with Hereditary Hemorrhagic Telangiectasia is ENG (Endoglin), and among its related pathways are NTHi-Induced Signaling and TGF-beta receptor signaling activates SMADs. Affiliated tissues include liver, skin and brain, and related mouse phenotypes are neoplasm and renal/urinary system.

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

Wikipedia:70 Hereditary hemorrhagic telangiectasia (HHT), also known as Osler–Weber–Rendu disease and... more...

GeneReviews for NBK1351

Related Diseases for Hereditary Hemorrhagic Telangiectasia

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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 114)
idRelated DiseaseScoreTop Affiliating Genes
1juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome12.5
2acvrl1-related hereditary hemorrhagic telangiectasia12.1
3eng-related hereditary hemorrhagic telangiectasia12.1
4gdf2-related hereditary hemorrhagic telangiectasia12.0
5smad4-related hereditary hemorrhagic telangiectasia12.0
6telangiectasia, hereditary hemorrhagic, type 111.8
7telangiectasia, hereditary hemorrhagic, type 411.1
8pulmonary hypertension, familial primary, 1, with or without hht11.0
9telangiectasia, hereditary hemorrhagic, type 511.0
10telangiectasia, hereditary hemorrhagic, type 311.0
11telangiectasia, hereditary hemorrhagic, type 211.0
12arteriovenous malformation10.7
13stoll alembik finck syndrome10.7ACVRL1, ENG
14pulmonary arteriovenous malformation10.6
15vhl-related pheochromocytoma10.6ACVRL1, ENG, SMAD4
16hepatitis10.6
17eosinophilic meningitis10.5ENG, TGFB1
18homocystinuria caused by cystathionine beta-synthase deficiency10.5ACVRL1, BMPR2, ENG
19glomerulosclerosis, focal segmental, 710.5ENG, SMAD4, TGFB1
20familial mitral valve prolapse10.5BMP6, ENG, VEGFA
21naegeli-franceschetti-jadassohn syndrome/dermatopathia pigmentosa reticularis10.4BMP6, TGFB1, VEGFA
22celiac trunk compression syndrome10.4TGFBR1, TGFBR2
23hydromyelia10.4NOS3, VEGFA
24vascular malformation10.4
25pulmonary venous return anomaly10.4TGFBR1, TGFBR2
26spinal cord astrocytoma10.3ENG, VEGFA
27preeclampsia/eclampsia 110.3ENG, NOS3, VEGFA
28bubonic plague10.3NOS3, TGFB1, VEGFA
29strawberry gallbladder10.3BMP6, TGFB1, TGFB2
30chikungunya10.3ENG, VEGFA, VWF
31vitreous abscess10.3TGFB1, TGFB2, VEGFA
32cerebritis10.3
33paroxysmal nocturnal hemoglobinuria10.3SMAD4, TGFB1, VEGFA
34larynx carcinoma in situ10.2NOS3, VEGFA, VWF
35aneurysm10.2
36enamel erosion10.2ACVRL1, ENG, VEGFA, VWF
37diamond-blackfan anemia10.2TGFB1, TGFB2
38renal fibrosis10.2NOS3, VEGFA, VWF
39endotheliitis10.2
40chromophil adenoma of the kidney10.2TGFBR1, TGFBR2
41adenosine monophosphate deaminase deficiency erythrocyte type10.2TGFB2, TGFBR1, TGFBR2
42arteriovenous fistula10.2
43pancreatitis10.2
44ectopia lentis, familial10.1BMP6, TGFB1, TGFBR1, TGFBR2
45brucella canis brucellosis10.1TGFB2, TGFBR1, TGFBR2
46weber syndrome10.1
47pulmonary hypertension10.1
48vertebral artery occlusion10.0ACVRL1, ANGPT2, BMPR2, ENG, VEGFA
49gallbladder papillomatosis10.0PDGFRA, SMAD4, TGFB1, VEGFA
50anoxia10.0TGFB2, TGFBR1, TGFBR2

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



Diseases related to hereditary hemorrhagic telangiectasia

Symptoms for Hereditary Hemorrhagic Telangiectasia

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Human phenotypes related to Hereditary Hemorrhagic Telangiectasia:

 63 53 (show all 41)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 epistaxis63 53 hallmark (90%) Very frequent (99-80%) HP:0000421
2 telangiectasia of the skin63 hallmark (90%) HP:0100585
3 cavernous hemangioma63 53 typical (50%) Frequent (79-30%) HP:0001048
4 portal hypertension63 53 typical (50%) Frequent (79-30%) HP:0001409
5 microcytic anemia63 53 typical (50%) Frequent (79-30%) HP:0001935
6 migraine63 53 typical (50%) Frequent (79-30%) HP:0002076
7 spontaneous hematomas63 53 typical (50%) Frequent (79-30%) HP:0007420
8 visceral angiomatosis63 53 typical (50%) Frequent (79-30%) HP:0100761
9 visual impairment63 occasional (7.5%) HP:0000505
10 conjunctival telangiectasia63 53 occasional (7.5%) Occasional (29-5%) HP:0000524
11 nephrolithiasis63 53 occasional (7.5%) Occasional (29-5%) HP:0000787
12 hematuria63 53 occasional (7.5%) Occasional (29-5%) HP:0000790
13 biliary tract abnormality63 occasional (7.5%) HP:0001080
14 seizures63 53 occasional (7.5%) Occasional (29-5%) HP:0001250
15 cirrhosis63 53 occasional (7.5%) Occasional (29-5%) HP:0001394
16 hepatic failure63 53 occasional (7.5%) Occasional (29-5%) HP:0001399
17 congestive heart failure63 53 occasional (7.5%) Occasional (29-5%) HP:0001635
18 abnormality of coagulation63 occasional (7.5%) HP:0001928
19 esophageal varix63 53 occasional (7.5%) Occasional (29-5%) HP:0002040
20 pulmonary hypertension63 53 occasional (7.5%) Occasional (29-5%) HP:0002092
21 hemoptysis63 53 occasional (7.5%) Occasional (29-5%) HP:0002105
22 pulmonary embolism63 53 occasional (7.5%) Occasional (29-5%) HP:0002204
23 gastrointestinal hemorrhage63 53 occasional (7.5%) Occasional (29-5%) HP:0002239
24 cerebral ischemia63 occasional (7.5%) HP:0002637
25 thrombophlebitis63 occasional (7.5%) HP:0004418
26 abnormality of the retinal vasculature63 occasional (7.5%) HP:0008046
27 peripheral arteriovenous fistula63 53 occasional (7.5%) Occasional (29-5%) HP:0100784
28 intestinal polyposis63 53 occasional (7.5%) Occasional (29-5%) HP:0200008
29 cholelithiasis53 Occasional (29-5%)
30 subarachnoid hemorrhage53 Occasional (29-5%)
31 transient ischemic attack53 Occasional (29-5%)
32 abnormality of the cerebral vasculature53 Occasional (29-5%)
33 amblyopia53 Occasional (29-5%)
34 cholecystitis53 Frequent (79-30%)
35 cerebral hemorrhage53 Occasional (29-5%)
36 venous thrombosis53 Occasional (29-5%)
37 retinal telangiectasia53 Occasional (29-5%)
38 abnormality of cardiovascular system physiology53 Frequent (79-30%)
39 arteriovenous malformation53 Frequent (79-30%)
40 mucosal telangiectasiae53 Very frequent (99-80%)
41 teleangiectasia of the skin53 Very frequent (99-80%)

UMLS symptoms related to Hereditary Hemorrhagic Telangiectasia:


cyanosis, dyspnea, hematemesis, seizures, clubbing

Drugs & Therapeutics for Hereditary Hemorrhagic Telangiectasia

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

(show top 50)    (show all 63)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Bevacizumabapproved, investigationalPhase 4, Phase 2, Phase 3, Phase 11968216974-75-3
Synonyms:
216974-75-3
Avastin
Avastin (TN)
Bevacizumab
Bevacizumab (genetical recombination)
 
Bevacizumab (genetical recombination) (JAN)
D06409
R-435
anti-VEGF monoclonal antibody
antiVEGF
bevacizumab
2
MentholapprovedPhase 423532216-51-516666
Synonyms:
(−
()-Menthol
(+)-Neo-menthol
(+)-p-Menthan-3-ol
(+-)-(1R*,3R*,4S*)-Menthol
(+-)-Menthol
(+/-)-Menthol
(+/-)-p-Menthan-3-ol
(-)-(1R,3R,4S)-Menthol
(-)-Menthyl alcohol
(-)-menthol
(-)-p-Menthan-3-ol
(-)-trans-p-Menthan-cis-ol
(1R)-(-)-Menthol
(1R,2S,5R)-(-)-menthol
(1R,2S,5R)-Menthol
(1R,3R,4S)-(-)-MENTHOL
(1R,3R,4S)-(-)-Menthol
(1R-(1-alpha,2-beta,5-alpha))-5-Methyl-2-(1-methylethyl)cyclohexanol
(1S, 2S, 5R)-(+)-Neomenthol
(1S,2R,5R)-(+)-Isomenthol
(1S,2R,5S)-(+)-Menthol
(1S,2R,5S)-Menthol
(1alpha,2beta,5alpha)-5-Methyl-2(1-methylethyl)cyclohexanol
(1r,2s,5r)-(-)-menthol
(L)-MENTHOL
(R)-(-)-Menthol
(r)-(-)-menthol
)-Menthol
--MENTHOL
1-Menthol
1490-04-6
15356-60-2
15356-70-4
15785_RIEDEL
15785_SIAL
19863P
2-Isopropyl-5-methylcyclohexanol
20747-49-3
2216-51-5
3-p-Menthol
4-Isopropyl-1-methylcyclohexan-3-ol
491-02-1
5-Methyl-2-(1-methylethyl)-cyclohexanol
5-Methyl-2-(1-methylethyl)cyclohexanol
5-methyl-2-(propan-2-yl)cyclohexanol
5-methyl-2-propan-2-ylcyclohexan-1-ol
551376_ALDRICH
551376_FLUKA
588733_ALDRICH
613290_ALDRICH
613290_FLUKA
63660_FLUKA
63670_ALDRICH
63670_FLUKA
63975-60-0
6C6A4A8C-A054-468C-A1F0-F29E39838CF2
89-78-1
98167-53-4
AC1L1B2E
AC1L28FR
AC1Q1NQ2
AC1Q2QQM
AI3-08161
AI3-52408
AKOS000119740
AR-1J3337
BB_NC-0057
BRN 1902288
BRN 3194263
BSPBio_003062
C00400
C10H20O
CCRIS 3728
CCRIS 375
CCRIS 4666
CCRIS 9231
CHEBI:15409
CHEBI:545611
CHEMBL256087
CHEMBL470670
CID1254
CID16666
Caswell No. 540
D-(-)-Menthol
D-p-Menthan-3-ol
D00064
D008610
D04849
D04918
DB00825
DivK1c_000820
EINECS 201-939-0
EINECS 207-724-8
EINECS 216-074-4
EINECS 218-690-9
EINECS 239-387-8
EINECS 239-388-3
EPA Pesticide Chemical Code 051601
FEMA No. 2665
Fisherman's friend lozenges
Fisherman's friend lozenges (TN)
HMS1922G13
HMS2092L14
HMS502I22
 
HSDB 5662
HSDB 593
Headache crystals
Hexahydrothymol
I06-1216
I14-7371
IDI1_000820
KBio1_000820
KBio2_000785
KBio2_003353
KBio2_005921
KBio3_002562
KBioSS_000785
L-(-)-Menthol
L-(-)-menthol
L-Menthol
L-menthol
LMPR0102090001
LS-2353
LS-57201
LS-886
LS-89531
LS-89533
Levomenthol
Levomenthol [INN:BAN]
Levomentholum
Levomentholum [INN-Latin]
Levomentol
M0321
M0545
M2772_SIAL
MENTHOL
MLS002207256
Menthacamphor
Menthol
Menthol (USP)
Menthol (VAN)
Menthol natural
Menthol natural, brazilian
Menthol racemic
Menthol racemique
Menthol racemique [French]
Menthol solution
Menthol, (1alpha,2beta,5alpha)-Isomer
Menthomenthol
Menthyl alcohol
MolPort-000-849-729
MolPort-001-793-392
NCGC00159382-02
NCGC00159382-03
NCGC00164247-01
NCGC00164247-02
NCI-C50000
NINDS_000820
NOOLISFMXDJSKH-KXUCPTDWBX
NSC 2603
NSC 62788
NSC2603
NSC62788
Neoisomenthol
Peppermint camphor
RACEMIC MENTHOL U.S.P.
Racementhol
Racementhol [INN:BAN]
Racementholum
Racementholum [INN-Latin]
Racementol
Racementol [INN-Spanish]
Racemic menthol
Robitussin Cough Drops
SDCCGMLS-0066659.P001
SMR001306785
SPBio_000869
SPECTRUM1503134
STK802468
Spectrum2_000855
Spectrum3_001561
Spectrum5_001060
Spectrum_000305
Tra-kill tracheal mite killer
U.S.P. Menthol
U.S.p. Menthol
UNII-BZ1R15MTK7
UNII-L7T10EIP3A
UNII-YS08XHA860
W266507_ALDRICH
W266523_ALDRICH
W266590_ALDRICH
WLN: L6TJ AY1&1 BQ D1
WLN: L6TJ AY1&1 DQ D1 -L
ZINC01482164
cis-1 ,3-trans-1,4-(+-)-menthol
cis-1,3-trans-1,4-(+-)-menthol
d,l-Menthol
d-Menthol
d-Neomenthol
dl-3-p-Menthanol
dl-Menthol
dl-Menthol (JP15)
l-(-)-Menthol
l-Menthol
l-Menthol (JP15)
l-Menthol (TN)
l-Menthol (natural)
nchembio862-comp1
p-Menthan-3-ol
rac-Menthol
3Angiogenesis InhibitorsPhase 4, Phase 2, Phase 3, Phase 14143
4Angiogenesis Modulating AgentsPhase 4, Phase 2, Phase 3, Phase 14072
5
Tranexamic AcidapprovedPhase 3, Phase 22571197-18-85526
Synonyms:
08455_FLUKA
1197-17-7
1197-18-8
1ceb
3-14-00-00868 (Beilstein Handbook Reference)
4-(Aminomethyl)-Cyclohexanecarboxylic Acid
4-(Aminomethyl)cyclohexanecarboxylic acid
4-(aminomethyl)cyclohexane-1-carboxylic acid
857653_ALDRICH
A0236
AB00052260
AB1003647
AC-4687
AC1L1KJH
AC1Q50F3
AC1Q546D
AC1Q5U04
ALBB-006013
AMCA
AMCHA
AMH
AR-1F6595
Acide tranexamique
Acide tranexamique [INN-French]
Acido tranexamico
Acido tranexamico [INN-Spanish]
Acidum tranexamicum
Acidum tranexamicum [INN-Latin]
Amikapron
Amstat
Anvitoff
BAY 3517
BPBio1_000069
BRN 2207452
BSPBio_000061
BSPBio_002837
CAS-1197-18-8
CHEBI:48669
CHEMBL292500
CHEMBL877
CID5526
CL 65336
CL-65336
Carxamin
Cyclocapron
Cyklokapron
Cyklokapron (TN)
D01136
DB00302
DV 79
DV-79
DV79
DivK1c_000655
EINECS 214-818-2
Emorhalt
Exacyl
Frenolyse
HMS1568D03
HMS1921F08
HMS2092P03
HMS502A17
Hexapromin
Hexatron
I04-0993
IDI1_000655
KABI 2161
KBio1_000655
KBio2_001871
KBio2_004439
KBio2_007007
KBio3_002337
KBioGR_000511
 
KBioSS_001871
LS-56611
LS-56612
LT00159441
Mastop
MolPort-001-792-390
MolPort-002-512-008
NCGC00016569-01
NCGC00016569-02
NCGC00016569-03
NCGC00094944-01
NCGC00094944-02
NINDS_000655
NSC 291305
NSC291305
Oprea1_786414
Prestwick0_000171
Prestwick1_000171
Prestwick2_000171
Prestwick3_000171
Prestwick_476
RP 18,429
Rikavarin
Rikavarin (TN)
Rikavarin-S
SPBio_000689
SPBio_001982
SPECTRUM1502026
STK503668
STOCK1N-16183
Spectrum2_000655
Spectrum3_001189
Spectrum4_000046
Spectrum5_001258
Spectrum_001391
Spiramin
Tamcha
Tranex
Tranexamate
Tranexamic acid (JP15/USAN/INN)
Tranexamic acid [USAN:INN:BAN:JAN]
Tranexamic acid cis-form
Tranexamsaeure
Tranexan
Tranexmic acid
Tranhexamic acid
Trans AMCHA
Trans-1-(Aminomethyl)cyclohexane-4-carboxylic acid
Trans-4-(Aminomethyl)-1-cyclohexanecarboxylic acid
Trans-p-(Aminomethyl)cyclohexanecarboxylic
Transamin
Transamin (TN)
Transamlon
Trasamlon
UNII-6T84R30KC1
Ugurol
WLN: L6TJ AVQ D1Z -T
cis-4-(Aminomethyl)cyclohexanecarboxylic acid
cis-4-Aminomethylcyclohexane-1-carboxylic acid
cis-AMCHA
t-AMCHA
tranexamic acid
tranexmic acid
trans-1-Aminomethylcyclohexane-4-carboxylic acid
trans-4-(Aminomethyl)cyclohexane-1-carboxylic acid
trans-4-(Aminomethyl)cyclohexane-carboxylic acid
trans-4-(Aminomethyl)cyclohexanecarboxylic acid
trans-4-(Aminomethyl)cyclohexanecarboxylic acid ester
trans-4-Aminomethylcyclohexane-1-carboxylic acid
trans-4-aminomethylcyclohexane-1-carboxylic acid
trans-Amcha
trans-Tranexamic acid
trans-p-(Aminomethyl)cyclohexanecarboxylic acid
6
PetrolatumapprovedPhase 3898009-03-8
Synonyms:
Multi-hydrocarbon
Paraffinum album
Paraffinum flavum
Petrolatum base
Petrolatum, white
 
Petrolatum,amber
Petrolatum,white
Petroleum jelly
Soft paraffin
White petrolatum
White, soft paraffin
Yellow soft paraffin
7
Mupirocinapproved, investigational, vet_approvedPhase 36212650-69-0446596
Synonyms:
12650-69-0
1jzs
5,9-Anhydro-2,3,4,8-tetradeoxy-8-[[3-(2-hydroxy-1-methylpropyl)oxiranyl]methyl]-3-methyl-[2E,8[2S,3S(1S,2S)
8-Carboxyoctyl (E)-4-(2S,3R,4R,5S)-5-((2S,3S,4S,5S)-2,3-epoxy-5-hydroxy-4-methylhexyl)-3,4-dihydroxytetrahydro-2H-pyran-2-yl)-3-methylcrotonat
9-[(E)-4-[(2S,3R,4R,5S)-3,4-dihydroxy-5-[[(2S,3S)-3- [(2S,3S)-3-hydroxybutan-2-yl]oxiran-2-yl]methyl] oxan-2-yl]-3-methylbut-2-enoyl]oxynonanoic acid
9-[(E)-4-[(2S,3R,4R,5S)-3,4-dihydroxy-5-[[(2S,3S)-3-[(2S,3S)-3-hydroxybutan-2-yl]oxiran-2-yl]methyl]oxan-2-yl]-3-methylbut-2-enoyl]oxynonanoic acid
AC1L9JV4
BIDD:GT0320
BRL 4910A
BRL-4910A
Bactoderm
Bactroban
Bactroban (TN)
Bactroban Nasal
C11758
C26H44O9
CHEBI:135271
CHEMBL719
CID446596
CPD000471888
Centany
Centany (TN)
 
D01076
DB00410
LS-177887
M7694_SIGMA
MLS001074711
MRC
MolPort-003-666-882
Mupirocin
Mupirocin (USP/INN)
Mupirocin, 14C-Labeled
Mupirocina
Mupirocina [Spanish]
Mupirocine
Mupirocine [French]
Mupirocinum
Mupirocinum [Latin]
NCGC00164554-03
Plasimine
Pseudomonic acid
Pseudomonic acid A
Pseudomonic acid a
SAM002589979
SMR000471888
UNII-D0GX863OA5
8Anti-Bacterial AgentsPhase 3, Phase 2, Phase 110884
9Anti-Infective AgentsPhase 3, Phase 2, Phase 121402
10CoagulantsPhase 3, Phase 21428
11Antifibrinolytic AgentsPhase 3, Phase 2459
12HemostaticsPhase 3, Phase 21359
13Soy BeanNutraceuticalPhase 3535
14
RanibizumabapprovedPhase 1, Phase 2474347396-82-1459903
Synonyms:
347396-82-1
D05697
Lucentis
Lucentis (TN)
 
Ranibizumab
Ranibizumab (USAN/INN)
Ranibizumab (genetical recombination)
Ranibizumab (genetical recombination) (JAN)
ranibizumab
rhuFab V2
15
Octreotideapproved, investigationalPhase 221383150-76-9383414, 6400441
Synonyms:
(4R,7S,10S,13R,16S,19R)-10-(4-aminobutyl)-19-[[(2R)-2-amino-3-phenylpropanoyl]amino]-16-benzyl-N-[(2R,3R)-1,3-dihydroxybutan-2-yl]-7-[(1R)-1-hydroxyethyl]-13-(1H-indol-3-ylmethyl)-6,9,12,15,18-pentaoxo-1,2-dithia-5,8,11,14,17-pentazacycloicosane-4-carboxamide
10-(4-Aminobutyl)-19-((2-amino-3-phenylpropanoyl)amino)-16-benzyl-7-(1-hydroxyethyl)-N-(2-hydroxy-1-(hydroxymethyl)propyl)-13-(1H-indol-3-ylmethyl)-6,9,12,15,18-pentaoxo-1,2-dithia-5,8,11,14,17-pentaa
10-(4-aminobutyl)-19-[(2-amino-3-phenylpropanoyl)amino]-16-benzyl-N-(1,3-dihydroxybutan-2-yl)-7-(1-hydroxyethyl)-13-(1H-indol-3-ylmethyl)-6,9,12,15,18-pentaoxo-1,2-dithia-5,8,11,14,17-pentazacycloicosane-4-carboxamide
10-(4-aminobutyl)-19-[(2-amino-3-phenylpropanoyl)amino]-16-benzyl-N-[(2R,3R)-1,3-dihydroxybutan-2-yl]-7-(1-hydroxyethyl)-13-(1H-indol-3-ylmethyl)-6,9,12,15,18-pentaoxo-1,2-dithia-5,8,11,14,17-pentazacycloicosane-4-carboxamide
79517-01-4 (acetate salt)
83150-76-9
AC1L1GVU
AC1L8LCD
AC1L9M4X
C07306
C5H12O2.C4H10
CHEBI:427278
CHEBI:611465
CHEMBL1680
CID383414
CID448601
CID54374
D-Phenylalanyl-L-cysteinyl-L-phenylalanyl-D-tryptophyl-L-lysyl-L-threonyl-L-cysteinyl-L-threoninol cyclic (2-7)-disulfide
D-Phenylalanyl-L-cysteinyl-L-phenylalanyl-D-tryptophyl-L-lysyl-L-threonyl-N-((1R,2R)-2-hydroxy-1-(hydroxymethyl)propyl)-L-cysteinamide cyclic (2-7)-disulfide
D-Phenylalanyl-L-cysteinyl-L-phenylalanyl-D-tryptophyl-L-lysyl-L-threonyl-N-((1R,2R)-2-hydroxy-1-(hydroxymethyl)propyl)-L-cysteinamide cyclic (2->7)-disulfide
D00442
DRG-0115
HMS2090C09
HS-2020
 
L-Cysteinamide, D-phenylalanyl-L-cysteinyl-L-phenylalanyl-D-tryptophyl-L-lysyl-L- threonyl-N-(2-hydroxy-1-(hydroxymethyl)propyl)-, cyclic (2->7)-disulfide, (R-(R*
L000453
LS-177735
LS-187135
Longastatin
NCGC00181796-01
NCI60_025753
Octreotida
Octreotida [Spanish]
Octreotide
Octreotide (USAN/INN)
Octreotide Acetate Salt
Octreotide [USAN:INN:BAN]
Octreotide-LAR
Octreotidum
Octreotidum [Latin]
Octrotide
SAN 201-995
SM 201-995
SMS 201-995
SMS-201-995
Sandostatine
Sandoz 201-995
UNII-RWM8CCW8GP
nchembio.184-comp3
zacycloicosane-4-carboxamide acetate
16
TamoxifenapprovedPhase 238010540-29-12733526
Synonyms:
(Z)-1-(p-Dimethylaminoethoxyphenyl)-1,2-diphenyl-1-butene
(Z)-2-(4-(1,2-Diphenyl-1-butenyl)phenoxy)-N,N-dimethylethanamine
(Z)-2-(4-(1,2-diphenylbut-1-enyl)phenoxy)-N,N-dimethylethanamine
(Z)-2-(Para-(1,2-diphenyl-1-butenyl)phenoxy)-N,N-dimethylamine
(Z)-2-(para-(1,2-Diphenyl-1-butenyl)phenoxy)-N,N-dimethylamine (IUPAC)
(Z)-2-[4-(1,2)-DIPHENYL-1-BUTENYL)-PHENOXY]-N,N-DIMETHYLETHANAMINE
(Z)-2-[p-(1,2-Diphenyl-1-butenyl)phenoxy]-N,N-dimethylethylamine
,citrate
1-P-beta-Dimethylaminoethoxyphenyl-trans-1,2-diphenylbut-1-ene
1-Para-beta-dimethylaminoethoxyphenyl-trans-1,2-diphenylbut-1-ene
1-p-.beta.-Dimethylamino-ethoxyphenyl-trans-1,2-diphenylbut-1-ene
1-p-beta-Dimethylaminoethoxyphenyl-trans-1,2-diphenylbut-1-ene
1-para-beta-Dimethylaminoethoxyphenyl-trans-1,2-diphenylbut-1-ene
10540-29-1
1ya4
2-[4-[(Z)-1,2-diphenylbut-1-enyl]phenoxy]-N,N-dimethylethanamine
2-{4-[(1Z)-1,2-diphenylbut-1-en-1-yl]phenoxy}-N,N-dimethylethanamine
54965-24-1 (citrate)
AC1MBZ3R
Apo-Tamox
Apo-tamox
BIDD:ER0008
BIDD:GT0009
BIDD:PXR0003
BPBio1_000278
BRD-K93754473-001-02-9
BRD-K93754473-048-05-3
BSPBio_000252
BSPBio_001150
BSPBio_001982
C07108
C26H29NO
CCRIS 3275
CHEBI:41774
CHEMBL83
CID2733526
Citofen
Crisafeno
D08559
DB00675
Diemon
EINECS 234-118-0
Gen-Tamoxifen
Gen-tamoxifen
HMS1362J11
HMS1792J11
HMS1990J11
HMS2090N08
HSDB 6782
ICI 47699
ICI-46,474
ICI-47699
IDI1_000258
IDI1_002170
Istubol
Kessar
L024126
LS-393
Lopac0_001203
MLS001332535
MLS001332536
MolPort-003-850-384
 
NCGC00024928-01
NCGC00024928-03
NCGC00024928-04
NCGC00024928-05
NCGC00024928-07
NCGC00024928-08
NCGC00024928-09
NCGC00024928-12
NSC727681
Noltam
Nolvadex
Nolvadex-D
Nourytam
Novaldex
Novo-Tamoxifen
Oncomox
PMS-Tamoxifen
Pms-Tamoxifen
Prestwick2_000146
Prestwick3_000146
QTL1_000079
Retaxim
SMR000059172
ST50511785
Spectrum5_001417
Spectrum5_002043
T5648_SIGMA
TAMOXIFEN (TAMOXIFEN CITRATE (54965-24-1))
TRANS FORM OF TAMOXIFEN
Tamizam
Tamofen
Tamone
Tamoplex (TN)
Tamoxasta
Tamoxen
Tamoxifen
Tamoxifen (INN)
Tamoxifen (TN)
Tamoxifen (Z)
Tamoxifen Citrate
Tamoxifen [INN:BAN]
Tamoxifen and its salts
Tamoxifene
Tamoxifene [INN-French]
Tamoxifeno
Tamoxifeno [INN-Spanish]
Tamoxifenum
Tamoxifenum [INN-Latin]
Tamoxifène
Tocris-0999
Tomaxithen
Trans-Tamoxifen
UNII-094ZI81Y45
UPCMLD-DP027
Valodex
Zemide
cMAP_000044
nchembio.140-comp7
nchembio.76-comp1
nchembio732-comp3
tamoxifen
trans-2-[4-(1,2-Diphenyl-1-butenyl)phenoxy]-N,N-dimethylethylamine
trans-Tamoxifen
17
SomatostatinapprovedPhase 222938916-34-6, 51110-01-153481605
Synonyms:
growth hormone-inhibiting hormone (GHIH)
 
somatotropin release-inhibiting factor (SRIF)
somatotropin release-inhibiting hormone
18
TimololapprovedPhase 225226839-75-833624, 5478
Synonyms:
(-)-3-Morpholino-4-(3-tert-butylamino-2-hydroxypropoxy)-1,2,5-thiadiazole
(2S)-1-((1,1-dimethylethyl)amino)-3-((4-(4-morpholinyl)-1,2,5-thiadiazol-3-yl)oxy)-2-propanol
(2S)-1-(tert-butylamino)-3-[(4-morpholin-4-yl-1,2,5-thiadiazol-3-yl)oxy]propan-2-ol
(2S)-1-[(1,1-dimethylethyl)amino]-3-[(4-morpholin-4-yl-1,2,5-thiadiazol-3-yl)oxy]propan-2-ol
(S)-1-(1,1-(Dimethylethyl)amino)-3-((4-(4-morpholinyl)-1,2,5-thiadiazol-3-yl)oxy)-2-propanol
(S)-1-(tert-Butylamino)-3-((4-morpholino-1,2,5-thiadiazol-3-yl)oxy)propan-2-ol
(S)-1-(tert-butylamino)-3-[(4-morpholin-4-yl-1,2,5-thiadiazol-3-yl)oxy]propan-2-ol
(S)-timolol
131628-37-0
194288-09-0
26839-75-8
26921-17-5 (maleate (1:1) salt)
AB00513729
AC1L1PYN
AC1Q59QM
Apo-Timol
Apo-Timop
Aquanil
BIDD:GT0073
BPBio1_001008
BRD-K08806317-050-03-6
BSPBio_000916
Betim
Betimol
Betimol (TN)
Blocadren
C07141
C13H24N4O3S
CAS-26921-17-5
CHEBI:9599
CHEMBL499
CID33624
CPD001456519
D08600
DB00373
DB08625
EINECS 248-032-6
HMS2089I11
HSDB 6533
Istalol
L-714,465
LS-122231
Lopac-T-6394
Lopac0_001189
MK-950
NCGC00016038-01
 
NCGC00016038-02
NCGC00016798-01
NCGC00016798-07
NCGC00022033-02
NCGC00022033-04
NCGC00022033-05
Novo-Timol
Nu-Timolol
Oprea1_640981
Optimol
Phoxal-timolol
Prestwick0_000948
Prestwick1_000948
Prestwick2_000948
Prestwick3_000948
Proflax
S(-)-Timolol maleate
S-(-)-3-(3-tert-Butylamino-2-hydroxypropoxy)-4-morpholino-1,2,5-thiadiazole
SAM002564238
SPBio_003075
ST072193
TIM
Temserin
Tenopt
Tim-AK
Timacar
Timacor
Timolol
Timolol (INN)
Timolol (TN)
Timolol GFS
Timolol Maleate, (1:1) Salt
Timolol [USAN]
Timolol anhydrous
Timolol maleate
Timololo
Timololum
Timololum [INN-Latin]
Timopic
Timoptic
Timoptic OcuDose
Timoptic in Ocudose
Timoptic-XE
Timoptol
Tocris-0649
UNII-817W3C6175
timolol
19
IronapprovedPhase 211237439-89-623925
Synonyms:
02583_FLUKA
12310_ALDRICH
12310_RIEDEL
129048-51-7
14067-02-8
161135-39-3
190454-13-8
195161-83-2
199281-22-6
209309_ALDRICH
209309_SIAL
255637_ALDRICH
266213_ALDRICH
266256_ALDRICH
267945_ALDRICH
267953_ALDRICH
26Fe
338141_ALDRICH
356808_ALDRICH
356824_ALDRICH
356832_ALDRICH
39344-71-3
3ZhP
413054_ALDRICH
443783-52-6
44890_ALDRICH
44890_FLUKA
675141-17-0
70884-35-4
73135-38-3
7439-89-6
8011-79-8
8053-60-9
AC1L2N38
ATW 230
ATW 432
Ancor B
Ancor en 80/150
Armco iron
Atomel 28
Atomel 300M200
Atomel 500M
Atomel 95
Atomiron 44MR
Atomiron 5M
Atomiron AFP 25
Atomiron AFP 5
C00023
C3518_SIAL
C3518_SIGMA
CCRIS 1580
CHEBI:18248
CID23925
Carbonyl iron
Copy Powder CS 105-175
D007501
DB01592
DSP 1000
DSP 128B
DSP 135
DSP 135C
DSP 138
Diseases (animal), iron overload
Diseases, iron overload
EF 1000
EF 250
EFV 200/300
EFV 250
EFV 250/400
EINECS 231-096-4
 
Ed-In-Sol
Eisen
Electrolytic iron
F 60 (metal)
FE
FT 3 (element)
Fe
Fe-40
Fe1+
Feronate
Ferretts
Ferro-Caps
Ferro-Time
Ferrousal
Ferrovac E
Ferrum
Ferrum metallicum
GS 6
HF 2 (element)
HL (iron)
HQ (metal)
HS (iron)
HS 4849
HSDB 604
Hemocyte
Hierro
Hoeganaes ATW 230
Hoeganaes EH
IRMM524A_FLUKA
IRMM524B_FLUKA
IRON
Iron (Fe)
Iron (Fe1+)
Iron ion (Fe+)
Iron ion(1+)
Iron monocation
Iron powder
Iron standard for AAS
Iron(1+)
Iron(1+) ion
Iron(III) nitrate solution
Iron, carbonyl
Iron, electrolytic
Iron, elemental
Iron, ion (Fe1+)
Iron, ion (Fe1+) (8CI,9CI)
Iron, reduced
LOHA
LS-3196
MolPort-003-925-001
NC 100
PZh-1M3
PZh-2
PZh1M1
PZh2M
PZh2M1
PZh2M2
PZh3
PZh3M
PZh4M
PZhO
Reduced iron
Remko
SUY-B 2
Siderol
UNII-E1UOL152H7
Vitedyn-Slo
Yieronia
fer
ferrous iron
hierro
20
Peginterferon alfa-2bapprovedPhase 230899210-65-8, 215647-85-1
Synonyms:
215647-85-1
D02748
PEG-Intron
PegIntron
 
Peginterferon alfa-2b
Peginterferon alfa-2b (INN)
Peginterferon alfa-2b (generical recombination)
Peginterferon alfa-2b (generical recombination) (JAN)
Pegintron (TN)
Unitron PEG
21Antihypertensive AgentsPhase 24095
22Immunosuppressive AgentsPhase 2, Phase 112770
23Pharmaceutical SolutionsPhase 2, Phase 17793
24Liver ExtractsPhase 23868
25EstrogensPhase 22470
26Estrogen Receptor ModulatorsPhase 2630
27Estrogen AntagonistsPhase 21315
28Bone Density Conservation AgentsPhase 23266
29Gastrointestinal AgentsPhase 28109
30Hormone AntagonistsPhase 212778
31Selective Estrogen Receptor ModulatorsPhase 2586
32Antineoplastic Agents, HormonalPhase 25407
33Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 212767
34HormonesPhase 213979
35TetrahydrozolinePhase 2593
36TEMPOPhase 227
37Tin FluoridesPhase 2246
38Adrenergic AntagonistsPhase 21535
39Ophthalmic SolutionsPhase 21092
40Adrenergic AgentsPhase 25140
41Aluminum hydroxide, magnesium hydroxide, simethicone drug combinationPhase 227
42Anti-Arrhythmia AgentsPhase 22969
43Neurotransmitter AgentsPhase 217734
44Adrenergic beta-AntagonistsPhase 21154
45Interferon-alphaPhase 21139
46Antiviral AgentsPhase 29732
47interferonsPhase 22137
48PomalidomideapprovedPhase 112319171-19-8
49HematinicsPhase 11630
50Parenteral Nutrition SolutionsPhase 1153

Interventional clinical trials:

(show top 50)    (show all 52)
idNameStatusNCT IDPhase
1Investigation of Coagulation Parameters in Hereditary Haemorrhagic TelangiectasiaCompletedNCT00230659Phase 4
2Intranasal Bevacizumab for HHT-Related EpistaxisRecruitingNCT02389959Phase 4
3Tranexamic Acid and Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT)CompletedNCT01031992Phase 3
4Phase III Randomized, Placebo-Controlled, Crossover Study of Soy Protein Isolate for Hereditary Hemorrhagic TelangiectasiaCompletedNCT00004654Phase 3
5ATERO : A Randomised Study With Tranexamic Acid in Epistaxis of Rendu Osler SyndromeCompletedNCT00355108Phase 3
6Treatment of Nasal Staphylococcus Aureus Colonization in Patients With HHTNot yet recruitingNCT02963129Phase 3
7Efficacy of a Bevacizumab Nasal Spray as a Treatment for Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT)TerminatedNCT02106520Phase 2, Phase 3
8Submucosal Bevacizumab for the Management of Recurrent Epistaxis in Patients With Hereditary Hemorrhagic Telangiectasia (HHT)Unknown statusNCT01402531Phase 2
9Topical Bevacizumab for the Management of Recurrent Epistaxis in Patients With Hereditary Hemorrhagic Telangiectasia (HHT)Unknown statusNCT01397695Phase 2
10Treatment of Hereditary Hemorrhagic Telangiectasia of the Nasal Mucosa by Intranasal Bevacizumab : Search for Effective DoseUnknown statusNCT02157987Phase 1, Phase 2
11Anti-Estrogen Therapy for Hereditary Hemorrhagic Telangiectasia A Double-Blind Placebo-Controlled Clinical TrialCompletedNCT00375622Phase 2
12Phase II Pilot Study of Octreotide, a Somatostatin Octapeptide Analog, for Gastrointestinal Hemorrhage in Hormone-Refractory Hereditary Hemorrhagic Telangiectasia and Senile EctasiaCompletedNCT00004327Phase 2
13Intranasal Submucosal Bevacizumab for Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT)CompletedNCT01314274Phase 2
14Thalidomide Reduces Arteriovenous Malformation Related Gastrointestinal BleedingCompletedNCT00389935Phase 2
15North American Study of Epistaxis in HHTCompletedNCT01408030Phase 2
16Efficacy and Safety of Bevacizumab for the Treatment Hemorrhagic Hereditary Telangiectasia (HHT) Associated With Severe Hepatic Vascular Malformations. Phase II StudyCompletedNCT00843440Phase 2
17Treatment of Exudative and Vasogenic Chorioretinal Diseases Including Variants of AMD and Other CNV Related MaculopathyCompletedNCT00470977Phase 1, Phase 2
18Efficacy of a Timolol Nasal Spray as a Treatment for Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) - (TEMPO)RecruitingNCT02484716Phase 2
19Evaluation of Pazopanib on Bleeding in Subjects With Hereditary Haemorrhagic TelangiectasiaRecruitingNCT02204371Phase 2
20Efficacy of Thalidomide in the Treatment of Hereditary Hemorrhagic TelangiectasiaActive, not recruitingNCT01485224Phase 2
21Octreotide in Patients With GI Bleeding Due to Rendu-Osler-WeberNot yet recruitingNCT02874326Phase 2
22Phase 2 Study of PEG-Intron in Hereditary Hemorrhagic TelangiectasiaTerminatedNCT00588146Phase 2
23Pomalidomide in Hereditary Hemorrhagic Telangiectasia and Transfusion-Dependent Vascular Ectasia: a Phase I StudyUnknown statusNCT02287558Phase 1
24The ELLIPSE Study: A Phase-1 Study Evaluating the Tolerance of Bevacizumab Nasal Spray to Treat Epistaxis in Hereditary Hemorrhagic TelangiectasiaCompletedNCT01507480Phase 1
25MRA With Feraheme in HHTRecruitingNCT02977637Phase 1
26Ranibizumab for the Management of Recurrent Nosebleeds in Patients With Hereditary Hemorrhagic Telangiectasia (HHT)WithdrawnNCT01406639Phase 1
27Diet and Hereditary Haemorrhagic TelangiectasiaUnknown statusNCT01692015
28Investigation of Plasma Proteins in Patients With Hereditary Haemorrhagic Telangiectasia and PAVMsUnknown statusNCT00230672
29Study of Endothelial Cells in Patients With Hereditary Haemorrhagic TelangiectasiaUnknown statusNCT00733629
30Studies of White Blood Cells Derived From HHT PatientsUnknown statusNCT00230633
31Pharmacogenomics in Pulmonary Arterial HypertensionUnknown statusNCT00593905
32Office-sclerotherapy for Epistaxis Due to Hereditary Hemorrhagic TelangiectasiaCompletedNCT01408732
33Screening Behavior in Adults With Hereditary Hemorrhagic TelangiectasiaCompletedNCT00684879
34Study of the Natural History and Genotype-Phenotype Correlations of Hereditary Hemorrhagic Telangiectasia PatientsCompletedNCT00004649
35Studies of Hereditary Hemorrhagic TelangiectasiaCompletedNCT00004648
36Hereditary Haemorrhagic Telangiectasia Flight Safety StudyCompletedNCT01590121
37Frequency of Common Medical Conditions in People With and Without HHTCompletedNCT02464644
38Cerebral Hemorrhage Risk in Hereditary Hemorrhagic TelangiectasiaRecruitingNCT01158807
39Symptoms and Treatment Results in Hereditary Hemorrhagic TelangiectasiaRecruitingNCT02690246
40Graded TTCE for Post-Embolization PAVM MonitoringRecruitingNCT02936349
41Iron Deficiency and Hereditary Haemorrhagic TelangiectasiaRecruitingNCT01908543
42Prospective Pilot Study of Floseal for the Treatment of Anterior Epistaxis in Patients With (HHT)RecruitingNCT02638012
43Topical Anti-angiogenic Therapy for Telangiectasia in HHT: Proof of ConceptRecruitingNCT01752049
44Molecular Studies on Hereditary Haemorrhagic Telangiectasia FamiliesRecruitingNCT00230620
45Case Notes Review on Patients With Hereditary Haemorrhagic TelangiectasiaRecruitingNCT00230685
46Cardiopulmonary Exercise Testing to Evaluate Pulmonary AVMsRecruitingNCT02436213
47Immunmodulation in Patients With HHTRecruitingNCT02983253
48Registry for Vascular Anomalies Associated With CoagulopathyRecruitingNCT00576888
49Institutional Registry of Haemorrhagic Hereditary TelangiectasiaRecruitingNCT01761981
50Reperfusion of Pulmonary Arteriovenous Malformations After EmbolotherapyRecruitingNCT01856842

Search NIH Clinical Center for Hereditary Hemorrhagic Telangiectasia


Cochrane evidence based reviews: telangiectasia, hereditary hemorrhagic

Genetic Tests for Hereditary Hemorrhagic Telangiectasia

About this section

Genetic tests related to Hereditary Hemorrhagic Telangiectasia:

id Genetic test Affiliating Genes
1 Osler Hemorrhagic Telangiectasia Syndrome26
2 Hereditary Hemorrhagic Telangiectasia24 SMAD4

Anatomical Context for Hereditary Hemorrhagic Telangiectasia

About this section

MalaCards organs/tissues related to Hereditary Hemorrhagic Telangiectasia:

35
Liver, Skin, Brain, Lung, Testes, Endothelial, Heart

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Hereditary Hemorrhagic Telangiectasia:
id TissueAnatomical CompartmentCell Relevance
1 Lateral Plate MesodermSplanchnic MesodermMural Cells Potential therapeutic candidate

Animal Models for Hereditary Hemorrhagic Telangiectasia or affiliated genes

About this section

MGI Mouse Phenotypes related to Hereditary Hemorrhagic Telangiectasia:

40 (show all 22)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.5PDGFRA, SMAD1, SMAD4, TGFB1, TGFBR1, TGFBR2
2MP:00053678.4ACVRL1, BMPR2, NOS3, PDGFRA, SMAD4, TGFB1
3MP:00107718.2ANGPT2, COL5A1, ENG, PDGFRA, SMAD4, TFAP2A
4MP:00053918.0ANGPT2, COL5A1, GDF2, NOS3, TFAP2A, TGFB1
5MP:00053797.6NOS3, PDGFRA, SMAD1, SMAD4, TFAP2A, TGFB1
6MP:00053827.4ACVRL1, ENG, PDGFRA, SMAD1, SMAD4, TFAP2A
7MP:00053887.3ACVRL1, ANGPT2, BMPR2, ENG, NOS3, PDGFRA
8MP:00053697.2ACVRL1, BMPR2, ENG, NOS3, PDGFRA, SMAD1
9MP:00028737.0ACVRL1, BMPR2, COL5A1, ENG, NOS3, PDGFRA
10MP:00053976.9ACVRL1, BMPR2, ENG, NOS3, PDGFRA, SMAD4
11MP:00053876.8ANGPT2, BMPR2, GDF2, NOS3, PDGFRA, SMAD4
12MP:00053806.8ACVRL1, BMPR2, COL5A1, ENG, PDGFRA, SMAD1
13MP:00053906.7BMP6, BMPR2, GDF2, NOS3, PDGFRA, SMAD1
14MP:00053846.4ANGPT2, BMPR2, NOS3, PDGFRA, SMAD1, SMAD4
15MP:00053766.3ACVRL1, ANGPT2, BMPR2, ENG, NOS3, PDGFRA
16MP:00036316.2ACVRL1, BMPR2, ENG, NOS3, PDGFRA, SMAD1
17MP:00053816.1ACVRL1, ANGPT2, ENG, NOS3, PDGFRA, SMAD1
18MP:00053786.0ACVRL1, BMP6, BMPR2, COL5A1, ENG, NOS3
19MP:00107685.6ACVRL1, ANGPT2, BMPR2, COL5A1, ENG, NOS3
20MP:00053855.3ACVRL1, ANGPT2, BMPR2, COL5A1, ENG, GDF2

Publications for Hereditary Hemorrhagic Telangiectasia

About this section

Articles related to Hereditary Hemorrhagic Telangiectasia:

(show top 50)    (show all 634)
idTitleAuthorsYear
1
Free-flap reconstruction for the management of life-threatening hereditary hemorrhagic telangiectasia. (27616747)
2016
2
Effect of systemic bevacizumab in severe hereditary hemorrhagic telangiectasia associated with bleeding. (26994402)
2016
3
Hemorrhage Rates From Brain Arteriovenous Malformation in Patients With Hereditary Hemorrhagic Telangiectasia. (25858236)
2015
4
Anti-angiogenic therapeutic strategies in hereditary hemorrhagic telangiectasia. (25717337)
2015
5
Lower Risk of Intracranial Arteriovenous Malformation Hemorrhage in Patients With Hereditary Hemorrhagic Telangiectasia. (26540357)
2015
6
An evaluation of the severity and progression of epistaxis in hereditary hemorrhagic telangiectasia 1 versus hereditary hemorrhagic telangiectasia 2. (26372311)
2015
7
Mouse models of hereditary hemorrhagic telangiectasia: recent advances and future challenges. (25741358)
2015
8
A giant pulmonary arteriovenous malformation without hereditary hemorrhagic telangiectasia: successful interventional embolization using a PDA occluder. (24627323)
2014
9
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome in an adolescent with complex chromosomal rearrangement and intellectual disability. (25081192)
2014
10
Brain arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia: clinical presentation and anatomical distribution. (24080277)
2013
11
Successful treatment of thalidomide for recurrent bleeding due to gastric angiodysplasia in hereditary hemorrhagic telangiectasia. (23661527)
2013
12
Two juvenile polyps, hereditary hemorrhagic telangiectasia and SMAD4 mutation. (23794345)
2013
13
High prevalence of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia. (23246127)
2013
14
Elevated circulating microRNA-210 levels in patients with hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations: a potential new biomarker. (23051042)
2013
15
Pancreatic vascular tumor or AVM? Utility of EUS in the diagnosis of hereditary hemorrhagic telangiectasia. (24360031)
2013
16
Management of Pulmonary Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia Patients. (24436569)
2013
17
Hereditary Hemorrhagic Telangiectasia: Breakpoint Characterization of a Novel Large Deletion in ACVRL1 Suggests the Causing Mechanism. (23653583)
2013
18
Spinal arteriovenous fistulas in children with hereditary hemorrhagic telangiectasia. (22656258)
2012
19
Cost savings through molecular diagnosis for hereditary hemorrhagic telangiectasia. (22281938)
2012
20
Liver involvement in hereditary hemorrhagic telangiectasia: can breath test unmask impaired hepatic first-pass effect? (21305365)
2012
21
Juvenile polyposis, hereditary hemorrhagic telangiectasia, and early onset colorectal cancer in patients with SMAD4 mutation. (22331366)
2012
22
Hepatic and pancreatic involvement in hereditary hemorrhagic telangiectasia: quantitative and qualitative evaluation with 64-section CT in asymptomatic adult patients. (21861188)
2012
23
Symptomatic liver involvement in neonatal hereditary hemorrhagic telangiectasia. (21536610)
2011
24
Unsuspected polymicrobial brain abscess arising from an intra-abdominal source in a patient with hereditary hemorrhagic telangiectasia. (20622729)
2010
25
Hereditary hemorrhagic telangiectasia in a patient with microscopic polyangiitis. (19640374)
2009
26
Anesthetic implications for the parturient with hereditary hemorrhagic telangiectasia. (19330398)
2009
27
Impact of genotype and mutation type on health-related quality of life in patients with hereditary hemorrhagic telangiectasia. (18855162)
2009
28
More on bevacizumab in hereditary hemorrhagic telangiectasia. (19714790)
2009
29
Hereditary hemorrhagic telangiectasia: fatigue and dyspnea. (19364795)
2009
30
Real-time imaging of de novo arteriovenous malformation in a mouse model of hereditary hemorrhagic telangiectasia. (19805914)
2009
31
Antiestrogen therapy for hereditary hemorrhagic telangiectasia: a double-blind placebo-controlled clinical trial. (19160429)
2009
32
Diffuse pulmonary arteriovenous malformations in hereditary hemorrhagic telangiectasia: long-term results of embolization according to the extent of lung involvement. (19118276)
2009
33
Hepatic vascular malformations in hereditary hemorrhagic telangiectasia: in search of predictors of significant disease. (18972437)
2008
34
Genotype-phenotype relationship for localization and age distribution of telangiectases in hereditary hemorrhagic telangiectasia. (18831062)
2008
35
Hereditary hemorrhagic telangiectasia: from epistaxis to life-threatening GI bleeding. (17724405)
2007
36
Analysis of angiogenesis related proteins and its implication in type-2 hereditary hemorrhagic telangiectasia]. (17278429)
2006
37
Acute visual loss as the presenting complaint of hereditary hemorrhagic telangiectasia. (17090798)
2006
38
Ablation of T-helper 1 cell derived cytokines and of monocyte-derived tumor necrosis factor-alpha in hereditary hemorrhagic telangiectasia: immunological consequences and clinical considerations. (16611101)
2006
39
Magnetic resonance (MR) imaging and MR angiography for evaluation and follow-up of hepatic artery banding in patients with hepatic involvement of hereditary hemorrhagic telangiectasia. (16465571)
2006
40
New classification of nasal vasculature patterns in hereditary hemorrhagic telangiectasia. (16539301)
2006
41
Patients with hereditary hemorrhagic telangiectasia have increased plasma levels of vascular endothelial growth factor and transforming growth factor-beta1 as well as high ALK1 tissue expression. (15951295)
2005
42
Hereditary hemorrhagic telangiectasia in children: endovascular treatment of neurovascular malformations: results in 31 patients. (16163493)
2005
43
Hereditary hemorrhagic telangiectasia. (16403391)
2005
44
Liver transplantation for cardiac failure in patients with hereditary hemorrhagic telangiectasia. (15973723)
2005
45
Embolization of a duodenal arteriovenous malformation in hereditary hemorrhagic telangiectasia: case report and review of the literature. (14631462)
2003
46
Gastrointestinal: hereditary hemorrhagic telangiectasia. (12702055)
2003
47
A mouse model for hereditary hemorrhagic telangiectasia (HHT) type 2. (12588795)
2003
48
The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2. (9245985)
1997
49
COL5A1: fine genetic mapping and exclusion as candidate gene in families with nail-patella syndrome, tuberous sclerosis 1, hereditary hemorrhagic telangiectasia, and Ehlers-Danlos Syndrome type II. (7759113)
1995
50
Endoscopic appearance of gastric angiodysplasia in hereditary hemorrhagic telangiectasia. (6967258)
1980

Variations for Hereditary Hemorrhagic Telangiectasia

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Clinvar genetic disease variations for Hereditary Hemorrhagic Telangiectasia:

5 (show all 17)
id Gene Variation Type Significance SNP ID Assembly Location
1ENGNM_000118.3(ENG): c.831C> G (p.Tyr277Ter)SNVPathogenicrs121918400GRCh37Chr 9, 130587239: 130587239
2ENGENG, 39-BP DEL, NT882deletionPathogenicChr na, -1: -1
3ENGENG, 2-BP DEL, NT1153deletionPathogenicChr na, -1: -1
4ENGENG, IVS3DS, A-G, +4SNVPathogenicChr na, -1: -1
5ENGENG, IVS3DS, G-A, +1deletionPathogenicChr na, -1: -1
6ENGNM_000118.3(ENG): c.2T> C (p.Met1Thr)SNVPathogenicrs267606783GRCh37Chr 9, 130616633: 130616633
7ENGNM_000118.3(ENG): c.1238G> T (p.Gly413Val)SNVPathogenicrs121918401GRCh37Chr 9, 130582213: 130582213
8ENGENG, IVS1DS, G-A, +1SNVPathogenicChr na, -1: -1
9ENGNM_000118.3(ENG): c.360C> A (p.Tyr120Ter)SNVPathogenicrs121918402GRCh37Chr 9, 130591966: 130591966
10ENGNM_000118.3(ENG): c.1586G> A (p.Arg529His)SNVLikely pathogenic, Pathogenicrs863223538GRCh37Chr 9, 130580499: 130580499
11ENGNM_000118.3(ENG): c.1080_1083delGACA (p.Thr361Serfs)deletionPathogenicrs863223540GRCh37Chr 9, 130586634: 130586637
12ENGNM_000118.3(ENG): c.640_643delGGCC (p.Gly214Thrfs)deletionPathogenicrs864622666GRCh38Chr 9, 127825741: 127825744
13ENGNM_000118.3(ENG): c.447G> C (p.Trp149Cys)SNVPathogenicrs878853657GRCh37Chr 9, 130588865: 130588865
14ENGNM_000118.3(ENG): c.67delA (p.Ser23Valfs)deletionPathogenicrs878853658GRCh37Chr 9, 130616568: 130616568
15ENGNM_000118.3(ENG): c.68-1G> ASNVPathogenicrs878853659GRCh38Chr 9, 127843246: 127843246
16ENGNM_000118.3(ENG): c.360+1G> ASNVPathogenicrs886039505GRCh37Chr 9, 130591965: 130591965
17ENGNM_001114753.2(ENG): c.880_881delGA (p.Asp294Hisfs)deletionPathogenicrs886042916GRCh37Chr 9, 130587189: 130587190

Expression for genes affiliated with Hereditary Hemorrhagic Telangiectasia

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

Pathways for genes affiliated with Hereditary Hemorrhagic Telangiectasia

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

(show all 45)
idSuper pathwaysScoreTop Affiliating Genes
19.7SMAD4, TGFBR1, TGFBR2
2
Show member pathways
9.5SMAD4, TGFB1, TGFBR1, TGFBR2
39.5SMAD4, TGFB1, TGFBR1, TGFBR2
49.5SMAD4, TGFB1, TGFBR1, TGFBR2
59.4BMPR2, SMAD1, SMAD4
69.4BMPR2, SMAD1, SMAD4
79.4TGFB1, TGFBR1, TGFBR2, VEGFA
89.4BMP6, ENG, TGFB1, TGFB2
99.3BMP6, TGFB1, TGFB2, VEGFA
109.2TGFB1, TGFB2, TGFBR1, TGFBR2
11
Show member pathways
9.2BMP6, BMPR2, SMAD1, SMAD4
129.2BMPR2, SMAD1, SMAD4, VEGFA
13
Show member pathways
9.1SMAD4, TGFB1, TGFB2, TGFBR1, TGFBR2
14
Show member pathways
9.1SMAD4, TGFB1, TGFB2, TGFBR1, TGFBR2
15
Show member pathways
9.1SMAD4, TGFB1, TGFB2, TGFBR1, TGFBR2
16
Show member pathways
9.1SMAD4, TGFB1, TGFB2, TGFBR1, TGFBR2
179.0PDGFRA, SMAD4, TGFB1, TGFBR1, VEGFA
189.0TGFB1, TGFB2, TGFBR1, TGFBR2, VEGFA
198.8SMAD4, TGFB1, TGFB2, TGFBR1, TGFBR2, VEGFA
20
Show member pathways
8.8SMAD4, TGFB1, TGFB2, TGFBR1, TGFBR2, VEGFA
21
Show member pathways
8.8NOS3, PDGFRA, SMAD1, VEGFA
228.7CXCL8, TGFB1, TGFB2, VEGFA
238.7PDGFRA, TGFB1, TGFB2, TGFBR1, TGFBR2
248.7ACVRL1, BMP6, BMPR2, SMAD1, SMAD4, VEGFA
258.7ACVRL1, ENG, SMAD4, TGFB1, TGFB2, TGFBR1
268.7ENG, SMAD1, SMAD4, TGFB1, TGFBR1, TGFBR2
278.6BMPR2, SMAD1, SMAD4, TGFBR1, TGFBR2, VEGFA
288.5BMP6, SMAD4, TGFB1, TGFB2, TGFBR1, TGFBR2
298.5PDGFRA, SMAD4, TGFB1, TGFB2, TGFBR1, TGFBR2
30
Show member pathways
8.4SMAD1, SMAD4, TGFB1, TGFB2, TGFBR1, TGFBR2
31
Show member pathways
8.3BMP6, COL5A1, GDF2, PDGFRA, TGFB1, TGFB2
32
Show member pathways
8.2ACVRL1, BMPR2, GDF2, SMAD1, SMAD4, TGFB1
338.1BMP6, BMPR2, ENG, SMAD1, SMAD4, TGFB1
348.0ACVRL1, ENG, SMAD1, SMAD4, TGFB1, TGFB2
358.0BMP6, BMPR2, SMAD1, SMAD4, TGFB1, TGFB2
36
Show member pathways
7.9ANGPT2, ENG, NOS3, PDGFRA, TGFB1, TGFB2
37
Show member pathways
7.7BMPR2, PDGFRA, SMAD1, SMAD4, TGFB1, TGFB2
387.7CXCL8, NOS3, SMAD4, TGFB1, TGFB2, TGFBR1
397.4CXCL8, PDGFRA, SMAD4, TGFB1, TGFB2, TGFBR1
40
Show member pathways
6.8ANGPT2, BMP6, CXCL8, GDF2, SMAD1, SMAD4
41
Show member pathways
6.8ACVRL1, ANGPT2, BMP6, BMPR2, CXCL8, GDF2
42
Show member pathways
6.5ACVRL1, ANGPT2, BMP6, BMPR2, CXCL8, GDF2
43
Show member pathways
6.2ACVRL1, ANGPT2, BMP6, BMPR2, CXCL8, NOS3
44
Show member pathways
6.0ANGPT2, BMP6, CXCL8, GDF2, PDGFRA, SMAD1
45
Show member pathways
5.3ACVRL1, ANGPT2, BMP6, BMPR2, COL5A1, CXCL8

GO Terms for genes affiliated with Hereditary Hemorrhagic Telangiectasia

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

idNameGO IDScoreTop Affiliating Genes
1SMAD protein complexGO:007114110.4SMAD1, SMAD4
2transforming growth factor beta receptor homodimeric complexGO:007002210.2ENG, TGFBR1, TGFBR2
3caveolaGO:00059019.8BMPR2, NOS3, TGFBR2
4platelet alpha granule lumenGO:00310939.8TGFB1, TGFB2, VEGFA, VWF
5cell surfaceGO:00099868.5ACVRL1, BMPR2, ENG, TGFB1, TGFBR1, TGFBR2
6extracellular spaceGO:00056157.5ANGPT2, BMP6, BMPR2, CXCL8, ENG, GDF2

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

(show all 49)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of endothelial cell proliferationGO:000193710.5ACVRL1, GDF2, TGFBR1
2artery morphogenesisGO:004884410.4ENG, TGFBR1, VEGFA
3endocardial cushion morphogenesisGO:000320310.4ACVRL1, ENG, TGFB2
4growthGO:004000710.3BMP6, GDF2, VEGFA
5positive regulation of endothelial cell differentiationGO:004560310.3ACVRL1, BMP6, GDF2
6neuron fate commitmentGO:004866310.3SMAD4, TGFB2, TGFBR1
7regulation of transforming growth factor beta receptor signaling pathwayGO:001701510.3ENG, SMAD4, TGFB1
8response to cholesterolGO:007072310.3TGFB1, TGFBR1, TGFBR2
9activin receptor signaling pathwayGO:003292410.3ACVRL1, BMPR2, GDF2, TGFBR1
10negative regulation of DNA biosynthetic processGO:200027910.3ACVRL1, BMPR2, GDF2
11blood vessel morphogenesisGO:004851410.2ACVRL1, ANGPT2, GDF2
12SMAD protein complex assemblyGO:000718310.1SMAD1, SMAD4, TGFB1
13positive regulation of SMAD protein import into nucleusGO:006039110.1BMP6, SMAD4, TGFB1, TGFBR1
14positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formationGO:190500710.0ENG, TGFB2, TGFBR1, TGFBR2
15positive regulation of BMP signaling pathwayGO:003051310.0ACVRL1, BMPR2, ENG, GDF2, SMAD4
16ventricular trabecula myocardium morphogenesisGO:000322210.0ENG, TGFB2, TGFBR1
17vasculogenesisGO:000157010.0ENG, GDF2, TGFBR2, VEGFA
18retina vasculature development in camera-type eyeGO:006129810.0ACVRL1, BMPR2, PDGFRA
19positive regulation of bone mineralizationGO:003050110.0BMP6, BMPR2, TFAP2A, TGFB1
20positive regulation of cartilage developmentGO:006103610.0BMPR2, GDF2, SMAD1
21ventricular septum morphogenesisGO:00604129.9SMAD4, TGFB2, TGFBR1, TGFBR2
22negative regulation of blood vessel endothelial cell migrationGO:00435379.9ACVRL1, ANGPT2, GDF2, TGFB1
23platelet degranulationGO:00025769.8TGFB1, TGFB2, VEGFA, VWF
24signal transduction by protein phosphorylationGO:00230149.7ACVRL1, BMPR2, TGFB2, TGFBR1, TGFBR2
25pathway-restricted SMAD protein phosphorylationGO:00603899.7GDF2, TGFB1, TGFB2, TGFBR1, TGFBR2
26blood vessel remodelingGO:00019749.7ACVRL1, BMPR2, NOS3, TGFB2
27positive regulation of osteoblast differentiationGO:00456699.7BMP6, BMPR2, GDF2, SMAD1
28palate developmentGO:00600219.7SMAD4, TFAP2A, TGFBR1, TGFBR2
29positive regulation of endothelial cell proliferationGO:00019389.6ACVRL1, BMP6, BMPR2, GDF2, TGFBR1, VEGFA
30kidney developmentGO:00018229.6BMP6, SMAD4, TFAP2A, TGFBR1, VEGFA
31positive regulation of epithelial to mesenchymal transitionGO:00107189.6SMAD4, TGFB1, TGFB2, TGFBR1, TGFBR2
32cartilage developmentGO:00512169.5BMP6, GDF2, SMAD1, TGFBR2
33in utero embryonic developmentGO:00017019.5ACVRL1, NOS3, SMAD4, TGFBR1, TGFBR2, VEGFA
34embryonic cranial skeleton morphogenesisGO:00487019.4PDGFRA, TFAP2A, TGFBR1, TGFBR2
35negative regulation of cell growthGO:00303089.3ACVRL1, BMPR2, GDF2, SMAD4, TGFB1, TGFB2
36cellular response to BMP stimulusGO:00717739.2ACVRL1, BMP6, BMPR2, GDF2, SMAD1, SMAD4
37SMAD protein signal transductionGO:00603959.2BMP6, GDF2, SMAD1, SMAD4, TGFB1, TGFB2
38BMP signaling pathwayGO:00305099.0ACVRL1, BMP6, BMPR2, ENG, GDF2, SMAD1
39wound healingGO:00420609.0PDGFRA, TGFB1, TGFB2, TGFBR1, TGFBR2
40positive regulation of pathway-restricted SMAD protein phosphorylationGO:00108628.9ACVRL1, BMP6, BMPR2, ENG, GDF2, SMAD4
41transforming growth factor beta receptor signaling pathwayGO:00071798.8ACVRL1, SMAD1, SMAD4, TGFB1, TGFB2, TGFBR1
42protein phosphorylationGO:00064688.6ACVRL1, BMPR2, SMAD1, TGFB1, TGFB2, TGFBR1
43response to hypoxiaGO:00016668.4ACVRL1, ANGPT2, SMAD4, TGFB1, TGFB2, TGFBR2
44positive regulation of angiogenesisGO:00457668.3ACVRL1, ANGPT2, CXCL8, ENG, GDF2, NOS3
45positive regulation of gene expressionGO:00106288.2ENG, GDF2, SMAD1, TFAP2A, TGFB1, TGFB2
46positive regulation of cell proliferationGO:00082848.2PDGFRA, TGFB1, TGFB2, TGFBR1, TGFBR2, VEGFA
47angiogenesisGO:00015257.9ACVRL1, ANGPT2, CXCL8, ENG, GDF2, NOS3
48positive regulation of transcription from RNA polymerase II promoterGO:00459447.6ACVRL1, BMP6, BMPR2, ENG, GDF2, SMAD1
49negative regulation of cell proliferationGO:00082857.0ACVRL1, CXCL8, NOS3, SMAD1, SMAD4, TFAP2A

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

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1activin bindingGO:004818510.9ACVRL1, ENG
2BMP receptor activityGO:009882110.8ACVRL1, BMPR2
3transforming growth factor beta receptor activity, type IGO:000502510.8ACVRL1, TGFBR1
4BMP bindingGO:003612210.8BMPR2, ENG
5type III transforming growth factor beta receptor bindingGO:003471410.6TGFB1, TGFB2
6type I transforming growth factor beta receptor bindingGO:003471310.5ENG, TGFB1, TGFBR2
7transforming growth factor beta-activated receptor activityGO:000502410.5ACVRL1, TGFBR1, TGFBR2
8transmembrane receptor protein serine/threonine kinase activityGO:000467510.4ACVRL1, BMPR2, TGFBR2
9SMAD bindingGO:004633210.3ACVRL1, TGFBR1, TGFBR2
10platelet-derived growth factor bindingGO:004840710.3COL5A1, PDGFRA
11transforming growth factor beta bindingGO:005043110.2ACVRL1, ENG, TGFBR1, TGFBR2
12type II transforming growth factor beta receptor bindingGO:000511410.1ENG, TGFB1, TGFB2, TGFBR1
13transforming growth factor beta receptor bindingGO:000516010.1BMP6, GDF2, TGFB1, TGFB2
14I-SMAD bindingGO:007041110.0SMAD1, SMAD4, TGFBR1
15cytokine activityGO:00051259.7BMP6, GDF2, TGFB1, TGFB2, VEGFA
16growth factor activityGO:00080839.7BMP6, GDF2, TGFB1, TGFB2, VEGFA
17protein heterodimerization activityGO:00469828.5BMP6, SMAD1, SMAD4, TGFB1, TGFB2, VEGFA
18protein homodimerization activityGO:00428037.1ENG, PDGFRA, SMAD1, SMAD4, TFAP2A, TGFB1
19protein bindingGO:00055154.0ACVRL1, ANGPT2, BMP6, BMPR2, COL5A1, CXCL8

Sources for Hereditary Hemorrhagic Telangiectasia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet