HHT
MCID: HRD008
MIFTS: 72

Hereditary Hemorrhagic Telangiectasia (HHT) 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, 27GTR, 30ICD10, 31ICD10 via Orphanet, 32ICD9CM, 35LifeMap Discovery®, 39MeSH, 45NCIt, 48NIH Rare Diseases, 50Novoseek, 54Orphanet, 62SNOMED-CT, 68UMLS, 69UMLS via Orphanet, 71Wikipedia
See all MalaCards sources

Aliases & Descriptions for Hereditary Hemorrhagic Telangiectasia:

Name: Hereditary Hemorrhagic Telangiectasia 35 11 71 23 48 24 25 54 13 68
Hht 23 48 24 25 54
Rendu-Osler-Weber Disease 11 48 54
Osler-Weber-Rendu Disease 11 23 24
Osler Hemorrhagic Telangiectasia 24 27
Osler Hemorrhagic Telangiectasia Syndrome 11
Telangiectasia, Hereditary Hemorrhagic 39
 
Telangiectasia Hereditary Hemorrhagic 50
Osler-Weber-Rendu Syndrome 25
Osler Weber Rendu Syndrome 48
Osler-Rendu-Weber Disease 48
Rendu-Osler Disease 54
Orw Disease 48

Characteristics:

Orphanet epidemiological data:

54
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 Ontology11 DOID:1270
ICD1030 I78.0
ICD9CM32 448.0
MeSH39 D013683
NCIt45 C35064
Orphanet54 ORPHA774
ICD10 via Orphanet31 I78.0
UMLS via Orphanet69 C0039445

Summaries for Hereditary Hemorrhagic Telangiectasia

About this section
NIH Rare Diseases:48 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 cyanosis, cyanosis and dyspnea. An important gene associated with Hereditary Hemorrhagic Telangiectasia is ENG (Endoglin), and among its related pathways are HIF-1-alpha transcription factor network and Adherens junction. Affiliated tissues include liver, skin and brain, and related mouse phenotypes are Decreased viability and Increased shRNA abundance (Z-score > 2).

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

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.

Wikipedia:71 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 109)
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
7pulmonary arteriovenous malformation11.4
8telangiectasia, hereditary hemorrhagic, type 411.1
9telangiectasia, hereditary hemorrhagic, type 311.0
10telangiectasia, hereditary hemorrhagic, type 211.0
11pulmonary hypertension, familial primary, 1, with or without hht11.0
12telangiectasia, hereditary hemorrhagic, type 511.0
13arteriovenous malformation10.7
14hepatitis10.5
15vascular malformation10.4
16pulmonary surfactant protein b, deficiency of10.3ACVRL1, ENG
17x-linked leigh syndrome10.3ACVRL1, ENG, SMAD4
18cerebritis10.3
19pulmonary venoocclusive disease 110.3ACVRL1, BMPR2, ENG
20joubert syndrome and related disorders10.3ACVRL1, BMPR2, ENG
21glomerulosclerosis, focal segmental, 710.3ENG, SMAD4, TGFB1
22aneurysm10.2
23stevens-johnson syndrome/toxic epidermal necrolysis10.2BMP6, TGFB1, VEGFA
24glycerol kinase deficiency, adult form10.2BMP6, ENG, VEGFA
25discharging ear10.2BMP6, TGFB1, TGFB2
26endotheliitis10.2
27mitral valve stenosis10.2ENG, VEGFA, VWF
28upper respiratory tract disease10.2TGFB1, TGFB2, VEGFA
29febrile ulceronecrotic mucha-habermann disease10.2TGFBR1, TGFBR2
30arteriovenous fistula10.2
31pancreatitis10.2
32hyperinsulinism10.2ANGPT2, TGFB2, VEGFA
33tooth erosion10.1ACVRL1, ENG, VEGFA, VWF
34zellweger syndrome10.1NOS3, VEGFA, VWF
35adult infiltrating astrocytic neoplasm10.1ANGPT2, TGFB2, VEGFA
36infective dermatitis associated with htlv-110.1TGFBR1, TGFBR2
37intellectual developmental disorder with persistence of fetal hemoglobin10.1TGFB2, TGFBR1, TGFBR2
38pulmonary hypertension10.1
39weber syndrome10.1
40oppositional defiant disorder10.1NOS3, VEGFA, VWF
41mass syndrome10.1BMP6, TGFB1, TGFBR1, TGFBR2
42algoneurodystrophy10.1TGFB2, TGFBR1, TGFBR2
43herpes simplex10.1COL5A1, TGFB1, VWF
44tmem231-related meckel syndrome10.1TGFB2, TGFBR1, TGFBR2
45chronic polyneuropathy10.1SMAD4, TGFB2, TGFBR1, TGFBR2
46proctitis10.1PDGFRA, SMAD4, TGFB1, VEGFA
47endemic typhus10.1TGFB1, TGFB2, TGFBR1, TGFBR2
48citrullinemia, type ii, neonatal-onset10.0ANGPT2, NOS3, VEGFA
49myocardial infarction10.0
50liver disease10.0

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



Diseases related to hereditary hemorrhagic telangiectasia

Symptoms & Phenotypes for Hereditary Hemorrhagic Telangiectasia

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Human phenotypes related to Hereditary Hemorrhagic Telangiectasia:

 54 64 (show all 36)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 epistaxis64 54 Very frequent (99-80%) HP:0000421
2 cavernous hemangioma64 54 Frequent (79-30%) HP:0001048
3 cholelithiasis64 54 Occasional (29-5%) HP:0001081
4 seizures64 54 Occasional (29-5%) HP:0001250
5 cirrhosis64 54 Occasional (29-5%) HP:0001394
6 hepatic failure64 54 Occasional (29-5%) HP:0001399
7 congestive heart failure64 54 Occasional (29-5%) HP:0001635
8 pulmonary hypertension54 Occasional (29-5%)
9 subarachnoid hemorrhage64 54 Occasional (29-5%) HP:0002138
10 pulmonary embolism64 54 Occasional (29-5%) HP:0002204
11 transient ischemic attack64 54 Occasional (29-5%) HP:0002326
12 spontaneous hematomas64 54 Frequent (79-30%) HP:0007420
13 abnormality of the cerebral vasculature54 Occasional (29-5%)
14 visceral angiomatosis64 54 Frequent (79-30%) HP:0100761
15 intestinal polyposis64 54 Occasional (29-5%) HP:0200008
16 conjunctival telangiectasia64 54 Occasional (29-5%) HP:0000524
17 amblyopia64 54 Occasional (29-5%) HP:0000646
18 nephrolithiasis64 54 Occasional (29-5%) HP:0000787
19 hematuria64 54 Occasional (29-5%) HP:0000790
20 cholecystitis64 54 Frequent (79-30%) HP:0001082
21 cerebral hemorrhage64 54 Occasional (29-5%) HP:0001342
22 portal hypertension64 54 Frequent (79-30%) HP:0001409
23 microcytic anemia64 54 Frequent (79-30%) HP:0001935
24 esophageal varix64 54 Occasional (29-5%) HP:0002040
25 migraine64 54 Frequent (79-30%) HP:0002076
26 hemoptysis64 54 Occasional (29-5%) HP:0002105
27 gastrointestinal hemorrhage64 54 Occasional (29-5%) HP:0002239
28 venous thrombosis64 54 Occasional (29-5%) HP:0004936
29 retinal telangiectasia64 54 Occasional (29-5%) HP:0007763
30 abnormality of cardiovascular system physiology54 Frequent (79-30%)
31 arteriovenous malformation54 Frequent (79-30%)
32 mucosal telangiectasiae54 Very frequent (99-80%)
33 teleangiectasia of the skin54 Very frequent (99-80%)
34 peripheral arteriovenous fistula64 54 Occasional (29-5%) HP:0100784
35 pulmonary arterial hypertension64 HP:0002092
36 telangiectasia of the skin64 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
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00381-A-18.1ACVRL1, BMPR2, PDGFRA, TGFBR1, TGFBR2, ACVRL1
2GR00366-A-1927.6BMP6, SMAD4, TGFB2, TGFBR1, TGFBR2, ACVRL1

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

41 (show all 21)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020069.0PDGFRA, SMAD1, SMAD4, TGFB1, TGFBR1, TGFBR2
2MP:00053678.7ACVRL1, BMPR2, NOS3, PDGFRA, SMAD4, TGFB1
3MP:00053898.4BMP6, GDF2, NOS3, PDGFRA, SMAD1, SMAD4
4MP:00053918.1ANGPT2, COL5A1, GDF2, NOS3, TFAP2A, TGFB1
5MP:00107718.0ANGPT2, COL5A1, ENG, PDGFRA, SMAD4, TFAP2A
6MP:00053827.9ACVRL1, ENG, PDGFRA, SMAD1, SMAD4, TFAP2A
7MP:00053697.4ACVRL1, BMPR2, ENG, NOS3, PDGFRA, SMAD1
8MP:00053797.4NOS3, PDGFRA, SMAD1, SMAD4, TFAP2A, TGFB1
9MP:00028737.3ACVRL1, BMPR2, COL5A1, ENG, NOS3, PDGFRA
10MP:00053887.2ACVRL1, ANGPT2, BMPR2, ENG, NOS3, PDGFRA
11MP:00053807.1ACVRL1, BMPR2, COL5A1, ENG, PDGFRA, SMAD1
12MP:00053906.9BMP6, BMPR2, GDF2, NOS3, PDGFRA, SMAD1
13MP:00053876.9ANGPT2, BMPR2, GDF2, NOS3, PDGFRA, SMAD4
14MP:00053976.9ACVRL1, BMPR2, ENG, NOS3, PDGFRA, SMAD4
15MP:00053766.7ACVRL1, ANGPT2, BMPR2, ENG, GDF2, NOS3
16MP:00053846.7ANGPT2, BMPR2, NOS3, PDGFRA, SMAD1, SMAD4
17MP:00053816.4ACVRL1, ANGPT2, ENG, NOS3, PDGFRA, SMAD1
18MP:00036316.4ACVRL1, BMPR2, ENG, NOS3, PDGFRA, SMAD1
19MP:00053786.4ACVRL1, BMP6, BMPR2, COL5A1, ENG, NOS3
20MP:00107686.0ACVRL1, ANGPT2, BMPR2, COL5A1, ENG, NOS3
21MP:00053855.8ACVRL1, ANGPT2, BMPR2, COL5A1, ENG, GDF2

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 65)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Bevacizumabapproved, investigationalPhase 4, Phase 2, Phase 3, Phase 12020216974-75-3
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 426062216-51-516666
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 14257
4Angiogenesis Modulating AgentsPhase 4, Phase 2, Phase 3, Phase 14185
5
Tranexamic AcidapprovedPhase 3, Phase 22771197-18-85526
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
Mupirocinapproved, investigational, vet_approvedPhase 36512650-69-0446596
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
7
PetrolatumapprovedPhase 3938009-03-8
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
8Anti-Bacterial AgentsPhase 3, Phase 2, Phase 111226
9Anti-Infective AgentsPhase 3, Phase 2, Phase 122062
10Antifibrinolytic AgentsPhase 3, Phase 2484
11CoagulantsPhase 3, Phase 21500
12HemostaticsPhase 3, Phase 21443
13Soy BeanNutraceuticalPhase 3554
14
RanibizumabapprovedPhase 1, Phase 2486347396-82-1459903
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 222383150-76-9383414, 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 239010540-29-12733526
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 223738916-34-6, 51110-01-153481605
Synonyms:
growth hormone-inhibiting hormone (GHIH)
 
somatotropin release-inhibiting factor (SRIF)
somatotropin release-inhibiting hormone
18
IronapprovedPhase 211657439-89-623925
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
19
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
20
Tacrolimusapproved, investigationalPhase 21102104987-11-3445643, 439492
Synonyms:
(-)-FK 506
(3S,4R,5S,8R,9E,12S,14S,15R,16S,18R,19R,26aS)-5,19-dihydroxy-3-{(1E)-1-[(1R,3R,4R)-4-hydroxy-3-methoxycyclohexyl]prop-1-en-2-yl}-14,16-dimethoxy-4,10,12,18-tetramethyl-8-(prop-2-en-1-yl)-5,6,8,11,12,13,14,15,16,17,18,19,24,25,26,26a-hexadecahydro-3H-15,19-epoxypyrido[2,1-c][1,4]oxazacyclotricosine-1,7,20,21(4H,23H)-tetrone
104987-11-3
109581-93-3 (Hydrate)
15,19-epoxy-3H-pyrido[2,1-c][1,4]oxaazacyclotricosine-1,7,20,21(23H)-tetrone,
3S-[3R*[E(1S*,3S*,4S*)],4S*,5R*,8S*,9E,12R*,14R*,15S*,16R*,18S*,19S*,26aR*]]-5,6,8,11,12,13,14,15,16,17,18,19,24,25,26,26a-hexadecahydro-5, 19-dihydroxy-3-[2-(4-hydroxy-3-methoxycyclohexyl)-1-methylethenyl]-14,16-dimethoxy-4,10,12,18-tetramethyl-8-(2-propenyl)-15,19-epoxy-3H-pyrido[2,1-c] [1,4] oxaazacyclotricosine-1,7,20,21(4H,23H)-tetrone
8-DEETHYL-8-[BUT-3-ENYL]-ASCOMYCIN
AC-1182
AC1L1K7H
AC1L97GB
AC1L9IBU
AKOS005145901
Advagraf
Ambap104987-11-3
Ambap5429
Anhydrous tacrolimus
BCBcMAP01_000194
BRD-K35452788-001-02-1
BSPBio-001279
BSPBio_001279
Bio-0921
Bio2_000470
Bio2_000950
C01375
C44H69NO10
CCRIS 7124
CHEBI:100924
CHEBI:61049
CHEMBL1200738
CID11158639
CID11556866
CID439492
CID445643
CID5372
CID5472317
CID6426916
CID6436007
CID6473866
CID6536850
CID6610362
CID6912836
CID9832283
CID9853905
CID9918805
CID9940643
CID9963169
CPD-10016
CPD000466356
D08556
DB00864
DivK1c_001040
FK 506
FK-506
FK5
FK506
FR 900506
FR-900506
 
FR900506
FT-0082660
Fk-506
Fujimycin
Graceptor
HMS1362O21
HMS1792O21
HMS1990O21
HMS2051C18
HMS2093M19
HMS503O21
IDI1_001040
IDI1_002225
K506
KBio1_001040
KBio2_000619
KBio2_003187
KBio2_005755
KBio3_001097
KBio3_001098
KBioGR_000619
KBioSS_000619
L 679934
L-679934
LCP-Tacro
LMPK04000003
LS-64247
MLS000759471
MLS001424054
Modigraf
MolPort-003-666-518
NCGC00163470-01
NCGC00163470-02
NCGC00163470-03
NCGC00163470-04
NCGC00179232-01
NChemBio.2007.16-comp1
NINDS_001040
NSC717865
Prograf
Prograf (TN)
Protopic
Protopy
S5003_Selleck
SAM001246677
SMR000466356
Tacarolimus
Tacrolimus (INN)
Tacrolimus (Prograf?)
Tacrolimus (anhydrous)
Tacrolimus anhydrous
Tacrolimus hydrate
Tacrolimus, anhydrous
Tsukubaenolide
UNII-Y5L2157C4J
nchembio.2007.23-comp2
tacrolimus
tacrolimus hydrate
21
Peginterferon alfa-2bapprovedPhase 230799210-65-8, 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
22Antihypertensive AgentsPhase 24207
23Immunosuppressive AgentsPhase 2, Phase 113086
24Pharmaceutical SolutionsPhase 2, Phase 18192
25Liver ExtractsPhase 24067
26EstrogensPhase 22542
27Estrogen Receptor ModulatorsPhase 2645
28Estrogen AntagonistsPhase 21349
29Bone Density Conservation AgentsPhase 23376
30Antineoplastic Agents, HormonalPhase 25592
31Gastrointestinal AgentsPhase 28402
32Hormone AntagonistsPhase 213180
33Selective Estrogen Receptor ModulatorsPhase 2601
34Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 213168
35HormonesPhase 214415
36TetrahydrozolinePhase 2621
37TEMPOPhase 231
38Adrenergic beta-AntagonistsPhase 21193
39Aluminum hydroxide, magnesium hydroxide, simethicone drug combinationPhase 231
40Adrenergic AgentsPhase 25352
41Adrenergic AntagonistsPhase 21573
42Anti-Arrhythmia AgentsPhase 23093
43Neurotransmitter AgentsPhase 218340
44Ophthalmic SolutionsPhase 21140
45Calcineurin InhibitorsPhase 21622
46Tin FluoridesPhase 2264
47Interferon-alphaPhase 21152
48interferonsPhase 22175
49Antiviral AgentsPhase 29967
50PomalidomideapprovedPhase 113019171-19-8

Interventional clinical trials:

(show top 50)    (show all 54)
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
19Octreotide in Patients With GI Bleeding Due to Rendu-Osler-WeberRecruitingNCT02874326Phase 2
20Efficacy of Thalidomide in the Treatment of Hereditary Hemorrhagic TelangiectasiaActive, not recruitingNCT01485224Phase 2
21Efficacy and Safety of a 0.1% Tacrolimus Nasal Ointment as a Treatment for Epistaxis in Hemorrhagic Hereditary Telangiectasia (HHT)Not yet recruitingNCT03152019Phase 2
22Phase 2 Study of PEG-Intron in Hereditary Hemorrhagic TelangiectasiaTerminatedNCT00588146Phase 2
23Evaluation of Pazopanib on Bleeding in Subjects With Hereditary Haemorrhagic TelangiectasiaTerminatedNCT02204371Phase 2
24Pomalidomide in Hereditary Hemorrhagic Telangiectasia and Transfusion-Dependent Vascular Ectasia: a Phase I StudyUnknown statusNCT02287558Phase 1
25The ELLIPSE Study: A Phase-1 Study Evaluating the Tolerance of Bevacizumab Nasal Spray to Treat Epistaxis in Hereditary Hemorrhagic TelangiectasiaCompletedNCT01507480Phase 1
26MRA With Feraheme in HHTRecruitingNCT02977637Phase 1
27Ranibizumab for the Management of Recurrent Nosebleeds in Patients With Hereditary Hemorrhagic Telangiectasia (HHT)WithdrawnNCT01406639Phase 1
28Diet and Hereditary Haemorrhagic TelangiectasiaUnknown statusNCT01692015
29Investigation of Plasma Proteins in Patients With Hereditary Haemorrhagic Telangiectasia and PAVMsUnknown statusNCT00230672
30Study of Endothelial Cells in Patients With Hereditary Haemorrhagic TelangiectasiaUnknown statusNCT00733629
31Studies of White Blood Cells Derived From HHT PatientsUnknown statusNCT00230633
32Pharmacogenomics in Pulmonary Arterial HypertensionUnknown statusNCT00593905
33Office-sclerotherapy for Epistaxis Due to Hereditary Hemorrhagic TelangiectasiaCompletedNCT01408732
34Screening Behavior in Adults With Hereditary Hemorrhagic TelangiectasiaCompletedNCT00684879
35Study of the Natural History and Genotype-Phenotype Correlations of Hereditary Hemorrhagic Telangiectasia PatientsCompletedNCT00004649
36Studies of Hereditary Hemorrhagic TelangiectasiaCompletedNCT00004648
37Hereditary Haemorrhagic Telangiectasia Flight Safety StudyCompletedNCT01590121
38Frequency of Common Medical Conditions in People With and Without HHTCompletedNCT02464644
39Cerebral Hemorrhage Risk in Hereditary Hemorrhagic TelangiectasiaRecruitingNCT01158807
40Symptoms and Treatment Results in Hereditary Hemorrhagic TelangiectasiaRecruitingNCT02690246
41Graded TTCE for Post-Embolization PAVM MonitoringRecruitingNCT02936349
42Iron Deficiency and Hereditary Haemorrhagic TelangiectasiaRecruitingNCT01908543
43Prospective Pilot Study of Floseal for the Treatment of Anterior Epistaxis in Patients With (HHT)RecruitingNCT02638012
44Topical Anti-angiogenic Therapy for Telangiectasia in HHT: Proof of ConceptRecruitingNCT01752049
45Molecular Studies on Hereditary Haemorrhagic Telangiectasia FamiliesRecruitingNCT00230620
46Case Notes Review on Patients With Hereditary Haemorrhagic TelangiectasiaRecruitingNCT00230685
47Cardiopulmonary Exercise Testing to Evaluate Pulmonary AVMsRecruitingNCT02436213
48Immunmodulation in Patients With HHTRecruitingNCT02983253
49Registry for Vascular Anomalies Associated With CoagulopathyRecruitingNCT00576888
50Institutional Registry of Haemorrhagic Hereditary TelangiectasiaRecruitingNCT01761981

Search NIH Clinical Center for Hereditary Hemorrhagic Telangiectasia


Cochrane evidence based reviews: telangiectasia, hereditary hemorrhagic

Genetic Tests for Hereditary Hemorrhagic Telangiectasia

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Genetic tests related to Hereditary Hemorrhagic Telangiectasia:

id Genetic test Affiliating Genes
1 Osler Hemorrhagic Telangiectasia Syndrome27
2 Hereditary Hemorrhagic Telangiectasia24 SMAD4

Anatomical Context for Hereditary Hemorrhagic Telangiectasia

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MalaCards organs/tissues related to Hereditary Hemorrhagic Telangiectasia:

36
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 TissueAnatomical CompartmentCell Relevance
1 Lateral Plate MesodermSplanchnic MesodermMural Cells Potential therapeutic candidate

Publications for Hereditary Hemorrhagic Telangiectasia

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Articles related to Hereditary Hemorrhagic Telangiectasia:

(show top 50)    (show all 654)
idTitleAuthorsYear
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

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Clinvar genetic disease variations for Hereditary Hemorrhagic Telangiectasia:

5 (show all 33)
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, NT882deletionPathogenic
3ENGENG, 2-BP DEL, NT1153deletionPathogenic
4ENGENG, IVS3DS, A-G, +4SNVPathogenic
5ENGENG, IVS3DS, G-A, +1deletionPathogenic
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, +1SNVPathogenic
9ENGNM_ 000118.3(ENG): c.360C> A (p.Tyr120Ter)SNVPathogenicrs121918402GRCh37Chr 9, 130591966: 130591966
10ENGNM_ 000118.3(ENG): c.259C> T (p.Gln87Ter)SNVLikely pathogenicrs730880096GRCh37Chr 9, 130592067: 130592067
11ENGNM_ 000118.3(ENG): c.1586G> A (p.Arg529His)SNVPathogenic/ Likely pathogenicrs863223538GRCh37Chr 9, 130580499: 130580499
12ENGNM_ 000118.3(ENG): c.1080_ 1083delGACA (p.Thr361Serfs)deletionPathogenicrs863223540GRCh37Chr 9, 130586634: 130586637
13ENGNM_ 000118.3(ENG): c.640_ 643delGGCC (p.Gly214Thrfs)deletionPathogenicrs864622666GRCh37Chr 9, 130588020: 130588023
14ENGNM_ 000118.3(ENG): c.447G> C (p.Trp149Cys)SNVPathogenicrs878853657GRCh38Chr 9, 127826586: 127826586
15ENGNM_ 000118.3(ENG): c.67delA (p.Ser23Valfs)deletionPathogenicrs878853658GRCh37Chr 9, 130616568: 130616568
16ENGNM_ 000118.3(ENG): c.68-1G> ASNVPathogenicrs878853659GRCh38Chr 9, 127843246: 127843246
17ENGNM_ 000118.3(ENG): c.360+1G> ASNVPathogenicrs886039505GRCh37Chr 9, 130591965: 130591965
18ENGNM_ 001114753.2(ENG): c.880_ 881delGA (p.Asp294Hisfs)deletionPathogenicrs886042916GRCh37Chr 9, 130587189: 130587190
19ENGNM_ 000118.3(ENG): c.-127C> TSNVPathogenicrs1060501408GRCh38Chr 9, 127854482: 127854482
20ENGNM_ 000118.3(ENG): c.991G> A (p.Gly331Ser)SNVPathogenicrs1060501410GRCh38Chr 9, 127824800: 127824800
21ENGNM_ 000118.3(ENG): c.1415_ 1424delAGAGCTTTGT (p.Gln472Argfs)deletionPathogenicrs1060501412GRCh38Chr 9, 127818720: 127818729
22ENGNM_ 000118.3(ENG): c.1327delC (p.Leu443Serfs)deletionPathogenicrs1060501413GRCh38Chr 9, 127818817: 127818817
23ENGNM_ 000118.3(ENG): c.524-2A> GSNVPathogenicrs1060501414GRCh38Chr 9, 127825862: 127825862
24ENGNM_ 000118.3(ENG): c.1029_ 1060del32insATGGTGG (p.Thr344Trpfs)indelPathogenicGRCh38Chr 9, 127824378: 127824409
25ENGNM_ 000118.3(ENG): c.219G> A (p.Thr73=)SNVLikely pathogenicrs755348996GRCh38Chr 9, 127843094: 127843094
26ENGNM_ 000118.3(ENG): c.1A> G (p.Met1Val)SNVLikely pathogenicrs1060501418GRCh38Chr 9, 127854355: 127854355
27ENGNM_ 000118.3(ENG): c.904G> T (p.Glu302Ter)SNVPathogenicrs1060501419GRCh38Chr 9, 127824887: 127824887
28ENGNM_ 000118.3(ENG): c.1199delG (p.Gly400Valfs)deletionPathogenicrs1060501422GRCh38Chr 9, 127819973: 127819973
29ENGNM_ 000118.3(ENG): c.715dupG (p.Glu239Glyfs)duplicationPathogenicGRCh38Chr 9, 127825332: 127825332
30ENGNC_ 000009.12: g.(?_ 127843094)_ (127843245_ ?)deldeletionPathogenicGRCh37Chr 9, 130605373: 130605524
31ENGNC_ 000009.12: g.(?_ 127815012)_ (127854773_ ?)deldeletionPathogenicGRCh37Chr 9, 130577291: 130617052
32ENGNC_ 000009.12: g.(?_ 127819622)_ (127820037_ ?)deldeletionLikely pathogenicGRCh37Chr 9, 130581901: 130582316
33ENGNC_ 000009.12: g.(?_ 127843094)_ (127843245_ ?)dupduplicationLikely pathogenicGRCh38Chr 9, 127843094: 127843245

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 top 50)    (show all 67)
idSuper pathwaysScoreTop Affiliating Genes
19.9ENG, SMAD4, VEGFA
29.7SMAD4, TGFBR1, TGFBR2
39.7SMAD4, TGFBR1, TGFBR2
49.7BMPR2, SMAD1, SMAD4
59.7BMPR2, SMAD1, SMAD4
69.5SMAD4, TGFB1, TGFBR1, TGFBR2
7
Show member pathways
9.5SMAD4, TGFB1, TGFBR1, TGFBR2
8
Show member pathways
9.5SMAD4, TGFB1, TGFBR1, TGFBR2
9
Show member pathways
9.5SMAD4, TGFB1, TGFBR1, TGFBR2
10
Show member pathways
9.5SMAD4, TGFB1, TGFBR1, TGFBR2
119.5BMP6, ENG, TGFB1, TGFB2
129.5TGFB1, TGFBR1, TGFBR2, VEGFA
13
Show member pathways
9.4BMP6, BMPR2, SMAD1, SMAD4
149.4BMPR2, SMAD1, SMAD4, VEGFA
159.4BMP6, TGFB1, TGFB2, VEGFA
169.3TGFB1, TGFB2, TGFBR1, TGFBR2
179.3TGFB1, TGFB2, TGFBR1, TGFBR2
18
Show member pathways
9.3BMPR2, SMAD4, TGFB1, TGFBR1, TGFBR2
199.3ANGPT2, ENG, SMAD4, TGFBR1, TGFBR2
20
Show member pathways
9.1SMAD4, TGFB1, TGFB2, TGFBR1, TGFBR2
21
Show member pathways
9.1SMAD4, TGFB1, TGFB2, TGFBR1, TGFBR2
22
Show member pathways
9.1SMAD4, TGFB1, TGFB2, TGFBR1, TGFBR2
23
Show member pathways
9.1SMAD4, TGFB1, TGFB2, TGFBR1, TGFBR2
249.1SMAD4, TGFB1, TGFB2, TGFBR1, TGFBR2
25
Show member pathways
9.1SMAD4, TGFB1, TGFB2, TGFBR1, TGFBR2
26
Show member pathways
9.1SMAD4, TGFB1, TGFB2, TGFBR1, TGFBR2
27
Show member pathways
9.1NOS3, PDGFRA, SMAD1, VEGFA
289.1TGFB1, TGFB2, TGFBR1, TGFBR2, VEGFA
299.0CXCL8, TGFB1, TGFB2
309.0BMP6, GDF2, PDGFRA, TGFB1, TGFB2
31
Show member pathways
8.9ENG, SMAD1, SMAD4, TGFB1, TGFBR1, TGFBR2
328.9SMAD4, TGFB1, TGFB2, TGFBR1, TGFBR2, VEGFA
33
Show member pathways
8.9SMAD4, TGFB1, TGFB2, TGFBR1, TGFBR2, VEGFA
348.9PDGFRA, TGFB1, TGFB2, TGFBR1, TGFBR2
35
Show member pathways
8.9PDGFRA, TGFB1, TGFB2, TGFBR1, TGFBR2
368.9BMPR2, SMAD1, SMAD4, TGFBR1, TGFBR2, VEGFA
378.9ANGPT2, NOS3, PDGFRA, VEGFA, VWF
388.8CXCL8, PDGFRA, TGFB2
398.8CXCL8, TGFB1, TGFB2, VEGFA
408.8CXCL8, SMAD4, TGFB1, TGFBR1, VEGFA
41
Show member pathways
8.8BMP6, GDF2, PDGFRA, TGFB1, TGFB2, TGFBR1
42
Show member pathways
8.7SMAD1, SMAD4, TGFB1, TGFB2, TGFBR1, TGFBR2
43
Show member pathways
8.7CXCL8, SMAD4, TGFB1, TGFBR1, TGFBR2
448.7PDGFRA, SMAD4, TGFB1, TGFB2, TGFBR1, TGFBR2
458.6BMP6, SMAD4, TGFB1, TGFB2, TGFBR1, TGFBR2
468.6CXCL8, NOS3, TFAP2A, TGFB1
478.6BMPR2, MIR205, PDGFRA, TGFB2, VEGFA
48
Show member pathways
8.5ACVRL1, BMPR2, GDF2, SMAD1, SMAD4, TGFB1
49
Show member pathways
8.5BMP6, COL5A1, GDF2, PDGFRA, TGFB1, TGFB2
50
Show member pathways
8.4BMP6, GDF2, NOS3, PDGFRA, TGFB1, TGFB2

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
1caveolaGO:000590110.4BMPR2, NOS3, TGFBR2
2SMAD protein complexGO:00711419.9SMAD1, SMAD4
3transforming growth factor beta receptor complexGO:00700229.8ENG, TGFBR1, TGFBR2
4cell surfaceGO:00099869.6ACVRL1, BMPR2, ENG, TGFB1, TGFBR1, TGFBR2
5platelet alpha granule lumenGO:00310939.6TGFB1, TGFB2, VEGFA, VWF
6extracellular spaceGO:00056157.9ANGPT2, BMP6, BMPR2, COL5A1, CXCL8, ENG

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

(show top 50)    (show all 111)
idNameGO IDScoreTop Affiliating Genes
1epithelial to mesenchymal transition involved in endocardial cushion formationGO:000319810.9ENG, SMAD4
2dorsal aorta morphogenesisGO:003591210.9ACVRL1, ENG
3endocardial cushion to mesenchymal transitionGO:009050010.9ACVRL1, ENG
4artery developmentGO:006084010.9ACVRL1, BMPR2
5endothelial cell activationGO:004211810.9SMAD4, TGFBR1
6lymphangiogenesisGO:000194610.9ACVRL1, BMPR2
7lymphatic endothelial cell differentiationGO:006083610.9ACVRL1, BMPR2
8germ cell migrationGO:000835410.8TGFB1, TGFBR1
9coronary artery morphogenesisGO:006098210.8TGFBR1, VEGFA
10positive regulation of axon extension involved in axon guidanceGO:004884210.8BMPR2, VEGFA
11positive regulation of cellular component movementGO:005127210.8TGFBR1, VEGFA
12response to transforming growth factor betaGO:007155910.8ENG, SMAD4
13regulation of bindingGO:005109810.8SMAD4, TGFB1
14common-partner SMAD protein phosphorylationGO:000718210.7TGFB1, TGFBR2
15atrial septum morphogenesisGO:006041310.7BMPR2, TGFB2
16cardiac epithelial to mesenchymal transitionGO:006031710.7TGFB2, TGFBR1
17pharyngeal arch artery morphogenesisGO:006162610.7BMPR2, TGFB2
18heart valve morphogenesisGO:000317910.7TGFB1, TGFB2
19negative regulation of macrophage cytokine productionGO:001093610.7TGFB1, TGFB2
20negative regulation of DNA biosynthetic processGO:200027910.7ACVRL1, BMPR2, GDF2
21cellular iron ion homeostasisGO:000687910.7BMP6, GDF2, SMAD4
22negative regulation of endothelial cell proliferationGO:000193710.7ACVRL1, GDF2, TGFBR1
23cellular response to transforming growth factor beta stimulusGO:007156010.6ACVRL1, TGFB1, TGFBR1
24artery morphogenesisGO:004884410.6ENG, TGFBR1, VEGFA
25cellular response to mechanical stimulusGO:007126010.6BMP6, ENG, TGFB1
26positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulusGO:190152210.6SMAD1, SMAD4
27venous blood vessel developmentGO:006084110.6ACVRL1, BMPR2
28positive regulation of endothelial cell differentiationGO:004560310.6ACVRL1, BMP6, GDF2
29regulation of transforming growth factor beta2 productionGO:003290910.6SMAD4, TGFB2
30blood vessel morphogenesisGO:004851410.6ACVRL1, ANGPT2, GDF2
31endocardial cushion fusionGO:000327410.6TGFB2, TGFBR2
32membranous septum morphogenesisGO:000314910.6TGFB2, TGFBR2
33regulation of transforming growth factor beta receptor signaling pathwayGO:001701510.6ENG, SMAD4, TGFB1
34positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathwayGO:003809110.5PDGFRA, VEGFA
35negative regulation of platelet activationGO:001054410.5NOS3, PDGFRA
36endocardial cushion morphogenesisGO:000320310.5ACVRL1, ENG, TGFB2
37tricuspid valve morphogenesisGO:000318610.5BMPR2, TGFBR2
38positive regulation of epithelial cell proliferationGO:005067910.5BMP6, TGFB1, VEGFA
39cellular response to iron ionGO:007128110.5BMP6, TFAP2A
40salivary gland morphogenesisGO:000743510.5TGFB1, TGFB2
41SMAD protein import into nucleusGO:000718410.5TGFB1, TGFB2
42negative regulation of transforming growth factor beta receptor signaling pathwayGO:003051210.5TGFB1, TGFBR1, TGFBR2
43neuron fate commitmentGO:004866310.5SMAD4, TGFB2, TGFBR1
44outflow tract morphogenesisGO:000315110.5BMPR2, TGFBR2, VEGFA
45cell developmentGO:004846810.5GDF2, TGFB1, TGFB2
46activin receptor signaling pathwayGO:003292410.5ACVRL1, BMPR2, GDF2, TGFBR1
47epithelial to mesenchymal transitionGO:000183710.5TGFB1, TGFB2, TGFBR1
48positive regulation of cartilage developmentGO:006103610.4BMPR2, GDF2, SMAD1
49animal organ regenerationGO:003110010.4ANGPT2, TGFB1, TGFBR2
50collagen fibril organizationGO:003019910.4COL5A1, TGFB2, TGFBR1

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

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1activin bindingGO:004818510.9ACVRL1, ENG
2BMP bindingGO:003612210.9BMPR2, ENG
3BMP receptor activityGO:009882110.9ACVRL1, BMPR2
4transforming growth factor beta receptor activity, type IGO:000502510.6ACVRL1, TGFBR1
5platelet-derived growth factor bindingGO:004840710.6COL5A1, PDGFRA
6I-SMAD bindingGO:007041110.5SMAD1, SMAD4, TGFBR1
7SMAD bindingGO:004633210.3ACVRL1, TGFBR1, TGFBR2
8transforming growth factor beta-activated receptor activityGO:000502410.1ACVRL1, TGFBR1, TGFBR2
9transforming growth factor beta bindingGO:005043110.1ACVRL1, ENG, TGFBR1, TGFBR2
10growth factor activityGO:000808310.0BMP6, GDF2, TGFB1, TGFB2, VEGFA
11type I transforming growth factor beta receptor bindingGO:003471310.0ENG, TGFB1, TGFBR2
12transmembrane receptor protein serine/threonine kinase activityGO:00046759.9ACVRL1, BMPR2, TGFBR1, TGFBR2
13type III transforming growth factor beta receptor bindingGO:00347149.9TGFB1, TGFB2
14transforming growth factor beta receptor bindingGO:00051609.9BMP6, GDF2, TGFB1, TGFB2
15signal transducer, downstream of receptor, with serine/threonine kinase activityGO:00047029.7ACVRL1, BMPR2, TGFB2, TGFBR1, TGFBR2
16protein heterodimerization activityGO:00469829.5BMP6, SMAD1, SMAD4, TGFB1, TGFB2, VEGFA
17type II transforming growth factor beta receptor bindingGO:00051149.5ENG, TGFB1, TGFB2, TGFBR1
18cytokine activityGO:00051259.2BMP6, CXCL8, GDF2, TGFB1, TGFB2, VEGFA
19protein homodimerization activityGO:00428038.1ENG, PDGFRA, SMAD1, SMAD4, TFAP2A, TGFB1
20protein bindingGO:00055155.7ACVRL1, ANGPT2, BMPR2, CXCL8, ENG, GDF2

Sources for Hereditary Hemorrhagic Telangiectasia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet