MCID: TLN006
MIFTS: 49

Telangiectasia, Hereditary Hemorrhagic, Type 1

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

Aliases & Classifications for Telangiectasia, Hereditary Hemorrhagic, Type 1

MalaCards integrated aliases for Telangiectasia, Hereditary Hemorrhagic, Type 1:

Name: Telangiectasia, Hereditary Hemorrhagic, Type 1 57 13
Hereditary Hemorrhagic Telangiectasia Type 1 29 6
Orw Disease 57 75
Hht1 57 75
Telangiectasia, Hereditary Hemorrhagic, of Rendu, Osler, and Weber 57
Hereditary Hemorrhagic Telangiectasia of Rendu, Osler, and Weber 75
Telangiectasia Hemorrhagic, Hereditary, Rendu, Osler and Weber 40
Telangiectasia, Hereditary Hemorrhagic, 1 75
Hereditary Hemorrhagic Telangiectasia 73
Osler-Rendu-Weber Syndrome 1 75
Osler-Rendu-Weber Syndrome 75
Osler-Rendu-Weber Disease 57
Orw1 75
Hht 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity
definite diagnosis if 3/4 criteria present (epistaxis, telangiectasia, visceral lesion, or family history)
cutaneous telangiectases often not evident until 20-30 years of age incidence 1 in 5,000-8,000
pavms occur more frequently in hereditary hemorrhagic telangiectasia 1 (hht1) than hht2


HPO:

32
telangiectasia, hereditary hemorrhagic, type 1:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



Summaries for Telangiectasia, Hereditary Hemorrhagic, Type 1

OMIM : 57 Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia leading to telangiectases and arteriovenous malformations of skin, mucosa, and viscera. Epistaxis and gastrointestinal bleeding are frequent complications of mucosal involvement. Visceral involvement includes that of the lung, liver, and brain. The most frequent form of hereditary hemorrhagic telangiectasia maps to the long arm of chromosome 9. (187300)

MalaCards based summary : Telangiectasia, Hereditary Hemorrhagic, Type 1, also known as hereditary hemorrhagic telangiectasia type 1, is related to weber syndrome and pulmonary arteriovenous malformation, and has symptoms including cyanosis, dyspnea and seizures. An important gene associated with Telangiectasia, Hereditary Hemorrhagic, Type 1 is ENG (Endoglin), and among its related pathways/superpathways is TGF-beta Signaling Pathways. The drugs Bevacizumab and Menthol have been mentioned in the context of this disorder. Affiliated tissues include liver, brain and skin, and related phenotypes are lip telangiectasia and tongue telangiectasia

UniProtKB/Swiss-Prot : 75 Telangiectasia, hereditary hemorrhagic, 1: A multisystemic vascular dysplasia leading to dilation of permanent blood vessels and arteriovenous malformations of skin, mucosa, and viscera. The disease is characterized by recurrent epistaxis and gastro-intestinal hemorrhage. Visceral involvement includes arteriovenous malformations of the lung, liver, and brain.

Related Diseases for Telangiectasia, Hereditary Hemorrhagic, Type 1

Graphical network of the top 20 diseases related to Telangiectasia, Hereditary Hemorrhagic, Type 1:



Diseases related to Telangiectasia, Hereditary Hemorrhagic, Type 1

Symptoms & Phenotypes for Telangiectasia, Hereditary Hemorrhagic, Type 1

Symptoms via clinical synopsis from OMIM:

57
Respiratory:
dyspnea

Neurologic Central Nervous System:
transient ischemic attack
subarachnoid hemorrhage
ischemic stroke
brain abscess
spinal arteriovenous malformation
more
Abdomen Liver:
cirrhosis
hepatic arteriovenous malformation

Skeletal Hands:
clubbing
nail bed telangiectases
finger pad telangiectases

Head And Neck Eyes:
conjunctival telangiectases

Head And Neck Mouth:
lip telangiectases
tongue telangiectases
palate telangiectases

Skin Nails Hair Skin:
telangiectases (especially on tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips)

Hematology:
anemia
polycythemia

Abdomen Gastrointestinal:
arteriovenous malformation
hematemesis
hematochezia
melena
gi hemorrhage (onset usually in 5th -6th decade)
more
Respiratory Lung:
cyanosis
pulmonary arteriovenous malformation (pavm), especially lower lobes

Cardiovascular Vascular:
arteriovenous fistulas of celiac and mesenteric vessels
arterial aneurysm
venous varicosities

Head And Neck Nose:
spontaneous, recurrent epistaxis (onset childhood)
nasal mucosa telangiectases

Cardiovascular Heart:
right-to-left shunt
high-output congestive heart failure


Clinical features from OMIM:

187300

Human phenotypes related to Telangiectasia, Hereditary Hemorrhagic, Type 1:

32 (show all 37)
# Description HPO Frequency HPO Source Accession
1 lip telangiectasia 32 HP:0000214
2 tongue telangiectasia 32 HP:0000227
3 nasal mucosa telangiectasia 32 HP:0000434
4 gastrointestinal angiodysplasia 32 HP:0000471
5 conjunctival telangiectasia 32 HP:0000524
6 cyanosis 32 HP:0000961
7 clubbing 32 HP:0001217
8 nail bed telangiectasia 32 HP:0001232
9 seizures 32 HP:0001250
10 cerebral hemorrhage 32 HP:0001342
11 cirrhosis 32 HP:0001394
12 right-to-left shunt 32 HP:0001694
13 high-output congestive heart failure 32 HP:0001722
14 polycythemia 32 HP:0001901
15 anemia 32 HP:0001903
16 migraine 32 HP:0002076
17 dyspnea 32 HP:0002094
18 subarachnoid hemorrhage 32 HP:0002138
19 ischemic stroke 32 HP:0002140
20 hematemesis 32 HP:0002248
21 melena 32 HP:0002249
22 transient ischemic attack 32 HP:0002326
23 spinal arteriovenous malformation 32 HP:0002390
24 cerebral arteriovenous malformation 32 HP:0002408
25 hematochezia 32 HP:0002573
26 gastrointestinal telangiectasia 32 HP:0002604
27 venous varicosities of celiac and mesenteric vessels 32 HP:0002626
28 gastrointestinal arteriovenous malformation 32 HP:0002629
29 arteriovenous fistulas of celiac and mesenteric vessels 32 HP:0002642
30 palate telangiectasia 32 HP:0002707
31 spontaneous, recurrent epistaxis 32 HP:0004406
32 fingerpad telangiectases 32 HP:0006107
33 pulmonary arteriovenous malformation 32 HP:0006548
34 hepatic arteriovenous malformation 32 HP:0006574
35 dilatation of mesenteric artery 32 HP:0011934
36 brain abscess 32 HP:0030049
37 dilatation of celiac artery 32 HP:0100858

UMLS symptoms related to Telangiectasia, Hereditary Hemorrhagic, Type 1:


cyanosis, dyspnea, seizures, clubbing

Drugs & Therapeutics for Telangiectasia, Hereditary Hemorrhagic, Type 1

Drugs for Telangiectasia, Hereditary Hemorrhagic, Type 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 66)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bevacizumab Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 216974-75-3
2
Menthol Approved Phase 4 2216-51-5 16666
3 Angiogenesis Inhibitors Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
4 Angiogenesis Modulating Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
5
Tranexamic Acid Approved Phase 3,Phase 2 1197-18-8 5526
6
Mupirocin Approved, Investigational, Vet_approved Phase 3 12650-69-0 446596
7
Petrolatum Approved, Investigational Phase 3 8009-03-8
8 Antifibrinolytic Agents Phase 3,Phase 2
9 Coagulants Phase 3,Phase 2
10 Hemostatics Phase 3,Phase 2,Not Applicable
11 Anti-Bacterial Agents Phase 3,Phase 2,Phase 1
12 Anti-Infective Agents Phase 3,Phase 2,Phase 1
13 Soy Bean Nutraceutical Phase 3
14
Iron Approved Phase 2,Not Applicable 7439-89-6 23925
15
Sodium Tetradecyl Sulfate Approved, Investigational Phase 1, Phase 2 1191-50-0, 139-88-8 14492 5248
16
Tamoxifen Approved Phase 2 10540-29-1 2733526
17
Timolol Approved Phase 2,Not Applicable 26839-75-8 33624 5478
18
Octreotide Approved, Investigational Phase 2 83150-76-9 383414 6400441
19
Somatostatin Approved, Investigational Phase 2 38916-34-6, 51110-01-1 53481605
20
Doxycycline Approved, Investigational, Vet_approved Phase 2 564-25-0 54671203
21
Peginterferon alfa-2b Approved Phase 2 99210-65-8, 215647-85-1
22 Pharmaceutical Solutions Phase 2,Phase 1
23 Antihypertensive Agents Phase 2,Not Applicable
24 Immunosuppressive Agents Phase 2,Phase 1
25 Anesthetics Phase 1, Phase 2
26 Antineoplastic Agents, Hormonal Phase 2
27 Bone Density Conservation Agents Phase 2
28 Estrogen Antagonists Phase 2
29 Estrogen Receptor Modulators Phase 2
30 Estrogens Phase 2
31 Hormone Antagonists Phase 2
32 Hormones Phase 2
33 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
34 Selective Estrogen Receptor Modulators Phase 2
35 Adrenergic Agents Phase 2,Not Applicable
36 Adrenergic Antagonists Phase 2,Not Applicable
37 Adrenergic beta-Antagonists Phase 2,Not Applicable
38 Aluminum hydroxide, magnesium hydroxide, simethicone drug combination Phase 2
39 Anti-Arrhythmia Agents Phase 2,Not Applicable
40 Neurotransmitter Agents Phase 2,Not Applicable
41 Ophthalmic Solutions Phase 2
42 TEMPO Phase 2
43 Tetrahydrozoline Phase 2
44 Gastrointestinal Agents Phase 2
45 Antimalarials Phase 2
46 Antiparasitic Agents Phase 2
47 Antiprotozoal Agents Phase 2
48 Tin Fluorides Phase 2
49 Antiviral Agents Phase 2
50 Interferon-alpha Phase 2

Interventional clinical trials:

(show top 50) (show all 54)
# Name Status NCT ID Phase Drugs
1 Intranasal Bevacizumab for HHT-Related Epistaxis Recruiting NCT02389959 Phase 4 Bevacizumab;Placebo (Saline)
2 Tranexamic Acid and Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) Completed NCT01031992 Phase 3 Tranexamic acid first, than placebo;First placebo, than Tranexamic acid.
3 Phase III Randomized, Placebo-Controlled, Crossover Study of Soy Protein Isolate for Hereditary Hemorrhagic Telangiectasia Completed NCT00004654 Phase 3 soy protein isolate
4 ATERO : A Randomised Study With Tranexamic Acid in Epistaxis of Rendu Osler Syndrome Completed NCT00355108 Phase 3 tranexamic acid
5 Treatment of Nasal Staphylococcus Aureus Colonization in Patients With HHT Not yet recruiting NCT02963129 Phase 3 Mupirocin
6 Efficacy of a Bevacizumab Nasal Spray as a Treatment for Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) Terminated NCT02106520 Phase 2, Phase 3 Bevacizumab;placebo
7 Submucosal Bevacizumab for the Management of Recurrent Epistaxis in Patients With Hereditary Hemorrhagic Telangiectasia (HHT) Unknown status NCT01402531 Phase 2 Submucosal Bevacizumab
8 Topical Bevacizumab for the Management of Recurrent Epistaxis in Patients With Hereditary Hemorrhagic Telangiectasia (HHT) Unknown status NCT01397695 Phase 2 Bevacizumab
9 Treatment of Hereditary Hemorrhagic Telangiectasia of the Nasal Mucosa by Intranasal Bevacizumab : Search for Effective Dose Unknown status NCT02157987 Phase 1, Phase 2 bevacuzimab spray
10 Efficacy of Thalidomide in the Treatment of Hereditary Hemorrhagic Telangiectasia Completed NCT01485224 Phase 2 Thalidomide
11 Office-sclerotherapy for Epistaxis Due to Hereditary Hemorrhagic Telangiectasia Completed NCT01408732 Phase 1, Phase 2 Sclerotherapy
12 Intranasal Submucosal Bevacizumab for Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) Completed NCT01314274 Phase 2 Bevacizumab;NaCl
13 Anti-Estrogen Therapy for Hereditary Hemorrhagic Telangiectasia A Double-Blind Placebo-Controlled Clinical Trial Completed NCT00375622 Phase 2 Tamoxifen
14 Efficacy of a Timolol Nasal Spray as a Treatment for Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) - (TEMPO) Completed NCT02484716 Phase 2 Timolol nasal spray;Placebo nasal spray
15 Phase II Pilot Study of Octreotide, a Somatostatin Octapeptide Analog, for Gastrointestinal Hemorrhage in Hormone-Refractory Hereditary Hemorrhagic Telangiectasia and Senile Ectasia Completed NCT00004327 Phase 2 octreotide
16 Thalidomide Reduces Arteriovenous Malformation Related Gastrointestinal Bleeding Completed NCT00389935 Phase 2 Thalidomide
17 North American Study of Epistaxis in HHT Completed NCT01408030 Phase 2 Sterile saline;Bevacizumab;Estriol;Tranexamic Acid
18 Doxycycline for Hereditary Hemorrhagic Telangiectasia Recruiting NCT03397004 Phase 2 Doxycycline Hyclate;Placebo
19 Octreotide in Patients With GI Bleeding Due to Rendu-Osler-Weber Active, not recruiting NCT02874326 Phase 2 Octreotide LAR
20 Evaluation of Pazopanib on Bleeding in Subjects With Hereditary Haemorrhagic Telangiectasia Terminated NCT02204371 Phase 2 Pazopanib;Placebo
21 Phase 2 Study of PEG-Intron in Hereditary Hemorrhagic Telangiectasia Terminated NCT00588146 Phase 2 Pegylated Interferon Alpha2b
22 The ELLIPSE Study: A Phase-1 Study Evaluating the Tolerance of Bevacizumab Nasal Spray to Treat Epistaxis in Hereditary Hemorrhagic Telangiectasia Completed NCT01507480 Phase 1 Bevacizumab
23 Pomalidomide in Hereditary Hemorrhagic Telangiectasia and Transfusion-Dependent Vascular Ectasia: a Phase I Study Recruiting NCT02287558 Phase 1 Pomalidomide
24 MRA With Feraheme in HHT Recruiting NCT02977637 Phase 1
25 Ranibizumab for the Management of Recurrent Nosebleeds in Patients With Hereditary Hemorrhagic Telangiectasia (HHT) Withdrawn NCT01406639 Phase 1 Ranibizumab
26 Iron Deficiency and Hereditary Haemorrhagic Telangiectasia Unknown status NCT01908543 Not Applicable Ferrous sulphate 200mg oral tablet
27 Diet and Hereditary Haemorrhagic Telangiectasia Unknown status NCT01692015 Not Applicable
28 Case Notes Review on Patients With Hereditary Haemorrhagic Telangiectasia Unknown status NCT00230685
29 Study of Endothelial Cells in Patients With Hereditary Haemorrhagic Telangiectasia Unknown status NCT00733629
30 Investigation of Plasma Proteins in Patients With Hereditary Haemorrhagic Telangiectasia and PAVMs Unknown status NCT00230672
31 Cardiopulmonary Exercise Testing to Evaluate Pulmonary AVMs Unknown status NCT02436213 Not Applicable
32 Studies of White Blood Cells Derived From HHT Patients Unknown status NCT00230633
33 Cardiopulmonary Exercise Testing to Evaluate Pulmonary AVMs With and Without Airflow Obstruction Unknown status NCT02458703 Not Applicable
34 Institutional Registry of Haemorrhagic Hereditary Telangiectasia Unknown status NCT01761981
35 Pharmacogenomics in Pulmonary Arterial Hypertension Unknown status NCT00593905 Sitaxsentan;Bosentan, Ambrisentan
36 Hereditary Haemorrhagic Telangiectasia Flight Safety Study Completed NCT01590121
37 Screening Behavior in Adults With Hereditary Hemorrhagic Telangiectasia Completed NCT00684879
38 Study of the Natural History and Genotype-Phenotype Correlations of Hereditary Hemorrhagic Telangiectasia Patients Completed NCT00004649
39 Studies of Hereditary Hemorrhagic Telangiectasia Completed NCT00004648
40 Frequency of Common Medical Conditions in People With and Without HHT Completed NCT02464644 Not Applicable
41 Investigation of Coagulation Parameters in Hereditary Haemorrhagic Telangiectasia Completed NCT00230659
42 Prospective Descriptive Study of the Angiogenic T Cell Population in Subjects With Hereditary Hemorrhagic Telangiectasia (HHT) Recruiting NCT03572556
43 Cerebral Hemorrhage Risk in Hereditary Hemorrhagic Telangiectasia Recruiting NCT01158807
44 Molecular Studies on Hereditary Haemorrhagic Telangiectasia Families Recruiting NCT00230620
45 Graded TTCE for Post-Embolization PAVM Monitoring Recruiting NCT02936349
46 Prospective Pilot Study of Floseal for the Treatment of Anterior Epistaxis in Patients With (HHT) Recruiting NCT02638012 Not Applicable Floseal
47 Topical Anti-angiogenic Therapy for Telangiectasia in HHT: Proof of Concept Recruiting NCT01752049 Not Applicable Topical timolol maleate;placebo saline drops
48 Immunmodulation in Patients With HHT Recruiting NCT02983253
49 Registry for Vascular Anomalies Associated With Coagulopathy Recruiting NCT00576888
50 Reperfusion of Pulmonary Arteriovenous Malformations After Embolotherapy Recruiting NCT01856842 Not Applicable

Search NIH Clinical Center for Telangiectasia, Hereditary Hemorrhagic, Type 1

Genetic Tests for Telangiectasia, Hereditary Hemorrhagic, Type 1

Genetic tests related to Telangiectasia, Hereditary Hemorrhagic, Type 1:

# Genetic test Affiliating Genes
1 Hereditary Hemorrhagic Telangiectasia Type 1 29

Anatomical Context for Telangiectasia, Hereditary Hemorrhagic, Type 1

MalaCards organs/tissues related to Telangiectasia, Hereditary Hemorrhagic, Type 1:

41
Liver, Brain, Skin, Lung, Tongue, Colon, Testes

Publications for Telangiectasia, Hereditary Hemorrhagic, Type 1

Articles related to Telangiectasia, Hereditary Hemorrhagic, Type 1:

(show all 12)
# Title Authors Year
1
Mutation affecting the proximal promoter of Endoglin as the origin of hereditary hemorrhagic telangiectasia type 1. ( 28231770 )
2017
2
A novel endoglin mutation in hereditary hemorrhagic telangiectasia type 1: A case report. ( 25760803 )
2015
3
Endoglin involvement in integrin-mediated cell adhesion as a putative pathogenic mechanism in hereditary hemorrhagic telangiectasia type 1 (HHT1). ( 25709613 )
2014
4
Functional analysis of endoglin mutations from hereditary hemorrhagic telangiectasia type 1 patients reveals different mechanisms for endoglin loss of function. ( 25312062 )
2014
5
Copy number variations in endoglin locus: mapping of large deletions in Spanish families with hereditary hemorrhagic telangiectasia type 1. ( 24267784 )
2013
6
Hereditary hemorrhagic telangiectasia type 1 and 2 mutations in Finland. ( 18607909 )
2008
7
Reduced endothelial secretion and plasma levels of transforming growth factor-beta1 in patients with hereditary hemorrhagic telangiectasia type 1. ( 15907823 )
2005
8
Identification of hereditary hemorrhagic telangiectasia type 1 in newborns by protein expression and mutation analysis of endoglin. ( 10625079 )
2000
9
Endoglin expression is reduced in normal vessels but still detectable in arteriovenous malformations of patients with hereditary hemorrhagic telangiectasia type 1. ( 10702408 )
2000
10
Expression analysis of four endoglin missense mutations suggests that haploinsufficiency is the predominant mechanism for hereditary hemorrhagic telangiectasia type 1. ( 10545596 )
1999
11
Cloning of the promoter region of human endoglin, the target gene for hereditary hemorrhagic telangiectasia type 1. ( 9845534 )
1998
12
Mutant endoglin in hereditary hemorrhagic telangiectasia type 1 is transiently expressed intracellularly and is not a dominant negative. ( 9366572 )
1997

Variations for Telangiectasia, Hereditary Hemorrhagic, Type 1

UniProtKB/Swiss-Prot genetic disease variations for Telangiectasia, Hereditary Hemorrhagic, Type 1:

75 (show all 32)
# Symbol AA change Variation ID SNP ID
1 ENG p.Gly52Val VAR_005193
2 ENG p.Cys53Arg VAR_005194
3 ENG p.Trp149Cys VAR_005195 rs878853657
4 ENG p.Leu306Pro VAR_005197
5 ENG p.Ala160Asp VAR_009120
6 ENG p.Leu221Pro VAR_009121
7 ENG p.Leu8Pro VAR_026774
8 ENG p.Val49Phe VAR_026775
9 ENG p.Leu107Arg VAR_026776
10 ENG p.Ile263Thr VAR_026780
11 ENG p.Cys412Ser VAR_026781
12 ENG p.Val504Met VAR_026782 rs116330805
13 ENG p.Gly413Val VAR_037140 rs121918401
14 ENG p.Ala11Asp VAR_070279
15 ENG p.Val105Asp VAR_070280
16 ENG p.Ala175Glu VAR_070282
17 ENG p.Ile220Thr VAR_070285
18 ENG p.Leu221Gln VAR_070286
19 ENG p.Val238Glu VAR_070288
20 ENG p.Ile263Ser VAR_070289
21 ENG p.Met269Arg VAR_070290
22 ENG p.Ala308Asp VAR_070291
23 ENG p.Cys363Ser VAR_070293
24 ENG p.Cys394Tyr VAR_070295
25 ENG p.Arg437Trp VAR_070297
26 ENG p.Leu490Ser VAR_070298 rs763475207
27 ENG p.Arg529His VAR_070299 rs863223538
28 ENG p.Arg529Pro VAR_070300
29 ENG p.Gly545Asp VAR_070301
30 ENG p.Leu547Pro VAR_070303
31 ENG p.Gly603Arg VAR_070306
32 ENG p.Ala604Asp VAR_070307

ClinVar genetic disease variations for Telangiectasia, Hereditary Hemorrhagic, Type 1:

6
(show top 50) (show all 801)
# Gene Variation Type Significance SNP ID Assembly Location
1 ENG NM_000118.3(ENG): c.831C> G (p.Tyr277Ter) single nucleotide variant Pathogenic rs121918400 GRCh37 Chromosome 9, 130587239: 130587239
2 ENG NM_000118.3(ENG): c.831C> G (p.Tyr277Ter) single nucleotide variant Pathogenic rs121918400 GRCh38 Chromosome 9, 127824960: 127824960
3 ENG ENG, 39-BP DEL, NT882 deletion Pathogenic
4 ENG ENG, 2-BP DEL, NT1153 deletion Pathogenic
5 ENG ENG, IVS3DS, A-G, +4 single nucleotide variant Pathogenic
6 ENG ENG, IVS3DS, G-A, +1 deletion Pathogenic
7 ENG NM_000118.3(ENG): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs267606783 GRCh37 Chromosome 9, 130616633: 130616633
8 ENG NM_000118.3(ENG): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs267606783 GRCh38 Chromosome 9, 127854354: 127854354
9 ENG NM_000118.3(ENG): c.1238G> T (p.Gly413Val) single nucleotide variant Pathogenic rs121918401 GRCh37 Chromosome 9, 130582213: 130582213
10 ENG NM_000118.3(ENG): c.1238G> T (p.Gly413Val) single nucleotide variant Pathogenic rs121918401 GRCh38 Chromosome 9, 127819934: 127819934
11 ENG ENG, IVS1DS, G-A, +1 single nucleotide variant Pathogenic
12 ENG NM_000118.3(ENG): c.360C> A (p.Tyr120Ter) single nucleotide variant Pathogenic rs121918402 GRCh37 Chromosome 9, 130591966: 130591966
13 ENG NM_000118.3(ENG): c.360C> A (p.Tyr120Ter) single nucleotide variant Pathogenic rs121918402 GRCh38 Chromosome 9, 127829687: 127829687
14 ENG NM_000118.3(ENG): c.1844C> T (p.Ser615Leu) single nucleotide variant Likely benign rs148002300 GRCh37 Chromosome 9, 130578230: 130578230
15 ENG NM_000118.3(ENG): c.1844C> T (p.Ser615Leu) single nucleotide variant Likely benign rs148002300 GRCh38 Chromosome 9, 127815951: 127815951
16 ENG NM_000118.3(ENG): c.1510G> A (p.Val504Met) single nucleotide variant Conflicting interpretations of pathogenicity rs116330805 GRCh37 Chromosome 9, 130580575: 130580575
17 ENG NM_000118.3(ENG): c.1510G> A (p.Val504Met) single nucleotide variant Conflicting interpretations of pathogenicity rs116330805 GRCh38 Chromosome 9, 127818296: 127818296
18 ENG NM_000118.3(ENG): c.640G> A (p.Gly214Ser) single nucleotide variant Uncertain significance rs150932144 GRCh37 Chromosome 9, 130588023: 130588023
19 ENG NM_000118.3(ENG): c.640G> A (p.Gly214Ser) single nucleotide variant Uncertain significance rs150932144 GRCh38 Chromosome 9, 127825744: 127825744
20 ENG NM_000118.3(ENG): c.392C> T (p.Pro131Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs139398993 GRCh37 Chromosome 9, 130588920: 130588920
21 ENG NM_000118.3(ENG): c.392C> T (p.Pro131Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs139398993 GRCh38 Chromosome 9, 127826641: 127826641
22 ENG NM_000118.3(ENG): c.1096G> C (p.Asp366His) single nucleotide variant Benign/Likely benign rs1800956 GRCh37 Chromosome 9, 130586621: 130586621
23 ENG NM_000118.3(ENG): c.1096G> C (p.Asp366His) single nucleotide variant Benign/Likely benign rs1800956 GRCh38 Chromosome 9, 127824342: 127824342
24 ENG NM_000118.3(ENG): c.14C> T (p.Thr5Met) single nucleotide variant Benign/Likely benign rs35400405 GRCh37 Chromosome 9, 130616621: 130616621
25 ENG NM_000118.3(ENG): c.14C> T (p.Thr5Met) single nucleotide variant Benign/Likely benign rs35400405 GRCh38 Chromosome 9, 127854342: 127854342
26 ENG NM_000118.3(ENG): c.259C> T (p.Gln87Ter) single nucleotide variant Likely pathogenic rs730880096 GRCh37 Chromosome 9, 130592067: 130592067
27 ENG NM_000118.3(ENG): c.259C> T (p.Gln87Ter) single nucleotide variant Likely pathogenic rs730880096 GRCh38 Chromosome 9, 127829788: 127829788
28 SMAD4 NM_005359.5(SMAD4): c.677C> T (p.Ala226Val) single nucleotide variant Conflicting interpretations of pathogenicity rs539739051 GRCh38 Chromosome 18, 51058134: 51058134
29 SMAD4 NM_005359.5(SMAD4): c.677C> T (p.Ala226Val) single nucleotide variant Conflicting interpretations of pathogenicity rs539739051 GRCh37 Chromosome 18, 48584504: 48584504
30 ENG NM_000118.3(ENG): c.1572C> T (p.Pro524=) single nucleotide variant Conflicting interpretations of pathogenicity rs760682477 GRCh37 Chromosome 9, 130580513: 130580513
31 ENG NM_000118.3(ENG): c.1572C> T (p.Pro524=) single nucleotide variant Conflicting interpretations of pathogenicity rs760682477 GRCh38 Chromosome 9, 127818234: 127818234
32 ENG NM_000118.3(ENG): c.1794T> C (p.Gly598=) single nucleotide variant Benign/Likely benign rs41358947 GRCh37 Chromosome 9, 130578280: 130578280
33 ENG NM_000118.3(ENG): c.1794T> C (p.Gly598=) single nucleotide variant Benign/Likely benign rs41358947 GRCh38 Chromosome 9, 127816001: 127816001
34 ENG NM_000118.3(ENG): c.1715T> A (p.Leu572Ter) single nucleotide variant Pathogenic rs863223539 GRCh38 Chromosome 9, 127817175: 127817175
35 ENG NM_000118.3(ENG): c.1715T> A (p.Leu572Ter) single nucleotide variant Pathogenic rs863223539 GRCh37 Chromosome 9, 130579454: 130579454
36 ENG NM_000118.3(ENG): c.1586G> A (p.Arg529His) single nucleotide variant Conflicting interpretations of pathogenicity rs863223538 GRCh37 Chromosome 9, 130580499: 130580499
37 ENG NM_000118.3(ENG): c.1586G> A (p.Arg529His) single nucleotide variant Conflicting interpretations of pathogenicity rs863223538 GRCh38 Chromosome 9, 127818220: 127818220
38 ENG NM_000118.3(ENG): c.1428+1G> A single nucleotide variant Pathogenic rs863223542 GRCh37 Chromosome 9, 130580994: 130580994
39 ENG NM_000118.3(ENG): c.1428+1G> A single nucleotide variant Pathogenic rs863223542 GRCh38 Chromosome 9, 127818715: 127818715
40 ENG NM_000118.3(ENG): c.1374A> G (p.Pro458=) single nucleotide variant Benign/Likely benign rs34828244 GRCh37 Chromosome 9, 130581049: 130581049
41 ENG NM_000118.3(ENG): c.1374A> G (p.Pro458=) single nucleotide variant Benign/Likely benign rs34828244 GRCh38 Chromosome 9, 127818770: 127818770
42 ENG NM_000118.3(ENG): c.1080_1083delGACA (p.Thr361Serfs) deletion Pathogenic rs863223540 GRCh37 Chromosome 9, 130586634: 130586637
43 ENG NM_000118.3(ENG): c.1080_1083delGACA (p.Thr361Serfs) deletion Pathogenic rs863223540 GRCh38 Chromosome 9, 127824355: 127824358
44 ENG NM_000118.3(ENG): c.572G> A (p.Gly191Asp) single nucleotide variant Benign/Likely benign rs41322046 GRCh37 Chromosome 9, 130588091: 130588091
45 ENG NM_000118.3(ENG): c.572G> A (p.Gly191Asp) single nucleotide variant Benign/Likely benign rs41322046 GRCh38 Chromosome 9, 127825812: 127825812
46 ACVRL1 NM_000020.2(ACVRL1): c.330G> A (p.Ser110=) single nucleotide variant Benign/Likely benign rs77341011 GRCh38 Chromosome 12, 51913575: 51913575
47 ACVRL1 NM_000020.2(ACVRL1): c.330G> A (p.Ser110=) single nucleotide variant Benign/Likely benign rs77341011 GRCh37 Chromosome 12, 52307359: 52307359
48 ACVRL1 NM_000020.2(ACVRL1): c.747G> A (p.Val249=) single nucleotide variant Benign/Likely benign rs1058563 GRCh38 Chromosome 12, 51914560: 51914560
49 ACVRL1 NM_000020.2(ACVRL1): c.747G> A (p.Val249=) single nucleotide variant Benign/Likely benign rs1058563 GRCh37 Chromosome 12, 52308344: 52308344
50 ENG NM_000118.3(ENG): c.640_643delGGCC (p.Gly214Thrfs) deletion Pathogenic rs864622666 GRCh38 Chromosome 9, 127825741: 127825744

Expression for Telangiectasia, Hereditary Hemorrhagic, Type 1

Search GEO for disease gene expression data for Telangiectasia, Hereditary Hemorrhagic, Type 1.

Pathways for Telangiectasia, Hereditary Hemorrhagic, Type 1

Pathways related to Telangiectasia, Hereditary Hemorrhagic, Type 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.61 ACVRL1 ENG

GO Terms for Telangiectasia, Hereditary Hemorrhagic, Type 1

Cellular components related to Telangiectasia, Hereditary Hemorrhagic, Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 8.62 ACVRL1 ENG

Biological processes related to Telangiectasia, Hereditary Hemorrhagic, Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 angiogenesis GO:0001525 9.48 ACVRL1 ENG
2 negative regulation of gene expression GO:0010629 9.46 ACVRL1 ENG
3 positive regulation of angiogenesis GO:0045766 9.43 ACVRL1 ENG
4 negative regulation of cell migration GO:0030336 9.4 ACVRL1 ENG
5 BMP signaling pathway GO:0030509 9.37 ACVRL1 ENG
6 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.32 ACVRL1 ENG
7 positive regulation of BMP signaling pathway GO:0030513 9.26 ACVRL1 ENG
8 endocardial cushion morphogenesis GO:0003203 9.16 ACVRL1 ENG
9 dorsal aorta morphogenesis GO:0035912 8.96 ACVRL1 ENG
10 endocardial cushion to mesenchymal transition GO:0090500 8.62 ACVRL1 ENG

Molecular functions related to Telangiectasia, Hereditary Hemorrhagic, Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transforming growth factor beta binding GO:0050431 8.96 ACVRL1 ENG
2 activin binding GO:0048185 8.62 ACVRL1 ENG

Sources for Telangiectasia, Hereditary Hemorrhagic, Type 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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