HHT2
MCID: TLN011
MIFTS: 45

Telangiectasia, Hereditary Hemorrhagic, Type 2 (HHT2)

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

Aliases & Classifications for Telangiectasia, Hereditary Hemorrhagic, Type 2

MalaCards integrated aliases for Telangiectasia, Hereditary Hemorrhagic, Type 2:

Name: Telangiectasia, Hereditary Hemorrhagic, Type 2 57 29 13 6
Hht2 57 20 72
Telangiectasia, Hemorrhagic, Hereditary, Type 2 39
Hereditary Hemorrhagic Telangiectasia Type 2 20
Telangiectasia Hereditary Hemorrhagic Type 2 20
Telangiectasia, Hereditary Hemorrhagic, 2 72
Osler Weber Rendu Syndrome Type 2 20
Osler-Rendu-Weber Syndrome 2 70
Orw2 20

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
definite diagnosis if 3/4 criteria present (epistaxis, telangiectasia, visceral lesion, or family history)
genetic heterogeneity (see hht1 )
pavm more frequent in hht1 than hht2


HPO:

31
telangiectasia, hereditary hemorrhagic, type 2:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



Summaries for Telangiectasia, Hereditary Hemorrhagic, Type 2

UniProtKB/Swiss-Prot : 72 Telangiectasia, hereditary hemorrhagic, 2: 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.

MalaCards based summary : Telangiectasia, Hereditary Hemorrhagic, Type 2, also known as hht2, is related to arteriovenous malformation and angiodysplasia, and has symptoms including seizures, dyspnea and cyanosis. An important gene associated with Telangiectasia, Hereditary Hemorrhagic, Type 2 is ACVRL1 (Activin A Receptor Like Type 1), and among its related pathways/superpathways is TGF-beta Signaling Pathways. Affiliated tissues include brain, tongue and endothelial, and related phenotypes are hypertension and anemia

More information from OMIM: 600376 PS187300

Related Diseases for Telangiectasia, Hereditary Hemorrhagic, Type 2

Diseases in the Hereditary Hemorrhagic Telangiectasia family:

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

Diseases related to Telangiectasia, Hereditary Hemorrhagic, Type 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)
# Related Disease Score Top Affiliating Genes
1 arteriovenous malformation 30.0 ENG ACVRL1
2 angiodysplasia 29.7 ENG ACVRL1
3 telangiectasis 29.7 ENG ACVRL1
4 pulmonary hypertension, primary, 1 29.4 LOC102723566 ENG ACVRL1
5 hereditary hemorrhagic telangiectasia 29.3 LOC102723566 ENG ACVRL1
6 vascular disease 29.3 ENG ACVRL1
7 telangiectasia, hereditary hemorrhagic, type 1 29.0 LOC102723566 ENG ACVRL1
8 deficiency anemia 10.1
9 heart disease 10.1
10 iron deficiency anemia 10.1
11 iron metabolism disease 10.1
12 congestive heart failure 10.1
13 active peptic ulcer disease 10.1
14 cerebral cavernous malformations 9.9
15 telangiectasia, hereditary hemorrhagic, type 3 9.9
16 pulmonary arterial hypertension associated with congenital heart disease 9.8 LOC102723566 ENG
17 pulmonary hypertension 9.7 ENG ACVRL1
18 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 9.7 ENG ACVRL1
19 weber syndrome 9.7 ENG ACVRL1
20 pulmonary venoocclusive disease 9.7 ENG ACVRL1
21 heritable pulmonary arterial hypertension 9.7 ENG ACVRL1
22 hepatopulmonary syndrome 9.6 ENG ACVRL1
23 arteriovenous malformations of the brain 9.6 ENG ACVRL1
24 cardiovascular organ benign neoplasm 9.5 ENG ACVRL1
25 pulmonary arteriovenous malformation 9.5 LOC102723566 ENG ACVRL1
26 idiopathic/heritable pulmonary arterial hypertension 9.4 LOC102723566 ENG ACVRL1

Graphical network of the top 20 diseases related to Telangiectasia, Hereditary Hemorrhagic, Type 2:



Diseases related to Telangiectasia, Hereditary Hemorrhagic, Type 2

Symptoms & Phenotypes for Telangiectasia, Hereditary Hemorrhagic, Type 2

Human phenotypes related to Telangiectasia, Hereditary Hemorrhagic, Type 2:

31 (show all 35)
# Description HPO Frequency HPO Source Accession
1 hypertension 31 HP:0000822
2 anemia 31 HP:0001903
3 gastrointestinal angiodysplasia 31 HP:0000471
4 cirrhosis 31 HP:0001394
5 conjunctival telangiectasia 31 HP:0000524
6 dyspnea 31 HP:0002094
7 transient ischemic attack 31 HP:0002326
8 migraine 31 HP:0002076
9 hematemesis 31 HP:0002248
10 hematochezia 31 HP:0002573
11 pulmonary arterial hypertension 31 HP:0002092
12 subarachnoid hemorrhage 31 HP:0002138
13 cerebral hemorrhage 31 HP:0001342
14 polycythemia 31 HP:0001901
15 cyanosis 31 HP:0000961
16 cerebral arteriovenous malformation 31 HP:0002408
17 spinal arteriovenous malformation 31 HP:0002390
18 lip telangiectasia 31 HP:0000214
19 ischemic stroke 31 HP:0002140
20 brain abscess 31 HP:0030049
21 melena 31 HP:0002249
22 spontaneous, recurrent epistaxis 31 HP:0004406
23 clubbing 31 HP:0001217
24 pulmonary arteriovenous malformation 31 HP:0006548
25 choriocapillaris atrophy 31 HP:0030491
26 right-to-left shunt 31 HP:0001694
27 hepatic arteriovenous malformation 31 HP:0006574
28 gastrointestinal arteriovenous malformation 31 HP:0002629
29 gastrointestinal telangiectasia 31 HP:0002604
30 nail bed telangiectasia 31 HP:0001232
31 seizure 31 HP:0001250
32 tongue telangiectasia 31 HP:0000227
33 nasal mucosa telangiectasia 31 HP:0000434
34 palate telangiectasia 31 HP:0002707
35 fingerpad telangiectases 31 HP:0006107

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Hematology:
anemia
polycythemia

Abdomen Liver:
cirrhosis
liver arteriovenous malformation

Neurologic Central Nervous System:
transient ischemic attack
subarachnoid hemorrhage
cerebral arteriovenous malformation
spinal arteriovenous malformation
ischemic stroke
more
Head And Neck Eyes:
choriocapillaris atrophy
conjunctival telangiectases

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

Skin Nails Hair Nails:
nail bed telangiectases

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

Abdomen Gastrointestinal:
arteriovenous malformation
hematemesis
hematochezia
melena
angiodysplasia
more
Respiratory:
dyspnea

Respiratory Lung:
cyanosis
pulmonary arteriovenous malformation (pavm)
a subset of patients develop pulmonary arterial hypertension

Cardiovascular Heart:
right-to-left shunt

Head And Neck Mouth:
lip telangiectases
tongue telangiectases
palate telangiectases

Cardiovascular Vascular:
arteriovenous malformation (cerebral, spinal, pulmonary, liver)

Clinical features from OMIM®:

600376 (Updated 05-Apr-2021)

UMLS symptoms related to Telangiectasia, Hereditary Hemorrhagic, Type 2:


seizures; dyspnea; cyanosis

Drugs & Therapeutics for Telangiectasia, Hereditary Hemorrhagic, Type 2

Search Clinical Trials , NIH Clinical Center for Telangiectasia, Hereditary Hemorrhagic, Type 2

Genetic Tests for Telangiectasia, Hereditary Hemorrhagic, Type 2

Genetic tests related to Telangiectasia, Hereditary Hemorrhagic, Type 2:

# Genetic test Affiliating Genes
1 Telangiectasia, Hereditary Hemorrhagic, Type 2 29 ACVRL1

Anatomical Context for Telangiectasia, Hereditary Hemorrhagic, Type 2

MalaCards organs/tissues related to Telangiectasia, Hereditary Hemorrhagic, Type 2:

40
Brain, Tongue, Endothelial, Liver, Colon, Bone, Heart

Publications for Telangiectasia, Hereditary Hemorrhagic, Type 2

Articles related to Telangiectasia, Hereditary Hemorrhagic, Type 2:

(show top 50) (show all 210)
# Title Authors PMID Year
1
Genotype-phenotype correlation in hereditary hemorrhagic telangiectasia: mutations and manifestations. 61 57 6
16470787 2006
2
Visceral manifestations in hereditary haemorrhagic telangiectasia type 2. 61 6 57
12843319 2003
3
Disease-associated mutations in conserved residues of ALK-1 kinase domain. 6 57 61
12700602 2003
4
The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2. 61 6 57
9245985 1997
5
Genome sequencing reveals a deep intronic splicing ACVRL1 mutation hotspot in Hereditary Haemorrhagic Telangiectasia. 6 57
30244195 2018
6
Endoscopic evaluation of gastrointestinal tract in patients with hereditary hemorrhagic telangiectasia and correlation with their genotypes. 57 6
23722869 2014
7
Detection of a significant association between mutations in the ACVRL1 gene and hepatic involvement in German patients with hereditary haemorrhagic telangiectasia. 6 57
18498373 2008
8
Hereditary hemorrhagic telangiectasia: evidence for regional founder effects of ACVRL1 mutations in French and Italian patients. 6 57
18285823 2008
9
Characterization of five novel large deletions causing hereditary haemorrhagic telangiectasia. 57 6
18312453 2008
10
Analysis of ENG and ACVRL1 genes in 137 HHT Italian families identifies 76 different mutations (24 novel). Comparison with other European studies. 57 6
17786384 2007
11
Mutation analysis in hereditary haemorrhagic telangiectasia in Germany reveals 11 novel ENG and 12 novel ACVRL1/ALK1 mutations. 57 6
16542389 2006
12
Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France. 57 6
15024723 2004
13
Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia. 57 6
14684682 2003
14
Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia. 57 6
11484689 2001
15
Mutations in the ALK-1 gene and the phenotype of hereditary hemorrhagic telangiectasia in two large Danish families. 57 6
11170071 2001
16
Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. 57 6
8640225 1996
17
Spectrum of Novel Hereditary Hemorrhagic Telangiectasia Variants in an Austrian Patient Cohort. 6 61
31220907 2019
18
Mutation analysis in Norwegian families with hereditary hemorrhagic telangiectasia: founder mutations in ACVRL1. 61 6
25970827 2016
19
Heart failure and pulmonary arteriovenous malformations in a patient with hereditary hemorrhagic telangiectasia type 2. 6 61
26245826 2015
20
Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by Hereditary Hemorrhagic Telangiectasia. 6 61
26176610 2015
21
Hereditary hemorrhagic telangiectasia in Japanese patients. 61 6
24196379 2014
22
Retention in the endoplasmic reticulum is the underlying mechanism of some hereditary haemorrhagic telangiectasia type 2 ALK1 missense mutations. 61 6
23124896 2013
23
Bioinformatic analysis of pathogenic missense mutations of activin receptor like kinase 1 ectodomain. 6 61
22028876 2011
24
Functional analysis of the BMP9 response of ALK1 mutants from HHT2 patients: a diagnostic tool for novel ACVRL1 mutations. 6 61
20501893 2010
25
Genotype-phenotype relationship for localization and age distribution of telangiectases in hereditary hemorrhagic telangiectasia. 57 61
18831062 2008
26
Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia. 61 6
18673552 2008
27
A novel mutation in ALK-1 causes hereditary hemorrhagic telangiectasia type 2. 61 6
16861286 2006
28
Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia and expression analysis of Endoglin and ALK1. 6 61
16470589 2006
29
Functional analysis of mutations in the kinase domain of the TGF-beta receptor ALK1 reveals different mechanisms for induction of hereditary hemorrhagic telangiectasia. 6 61
16282348 2006
30
Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease. 61 6
15879500 2006
31
Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients. 61 6
15517393 2005
32
Mutation analysis in Spanish patients with hereditary hemorrhagic telangiectasia: deficient endoglin up-regulation in activated monocytes. 61 6
15375013 2004
33
Arterial endothelium-specific activin receptor-like kinase 1 expression suggests its role in arterialization and vascular remodeling. 61 57
12970115 2003
34
Hereditary haemorrhagic telangiectasia: a questionnaire based study to delineate the different phenotypes caused by endoglin and ALK1 mutations. 61 57
12920067 2003
35
Analysis of ALK-1 and endoglin in newborns from families with hereditary hemorrhagic telangiectasia type 2. 6 61
10767348 2000
36
Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia. 6
32573726 2020
37
[Gene diagnosis and treatment of hereditary hemorrhagic telangiectasia with epistaxis as its main symptom]. 6
31327192 2019
38
Genetic analyses in a cohort of 191 pulmonary arterial hypertension patients. 6
29743074 2018
39
ALK1 Loss Results in Vascular Hyperplasia in Mice and Humans Through PI3K Activation. 6
29449337 2018
40
Identification of rare sequence variation underlying heritable pulmonary arterial hypertension. 6
29650961 2018
41
Variant discovery in patients with Mendelian vascular anomalies by next-generation sequencing and their use in patient clinical management. 6
28655553 2018
42
Clinical and genetic findings in children with central nervous system arteriovenous fistulas. 6
29171923 2017
43
Evidence for the founder effect of a novel ACVRL1 splice-site mutation in Hungarian hereditary hemorrhagic telangiectasia families. 6
27291782 2016
44
Identification of multiple ACVRL1 mutations in patients with pulmonary arterial hypertension by targeted exome capture. 6
27316748 2016
45
Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects. 6
26387786 2015
46
Severe open angle glaucoma in hereditary hemorrhagic telangiectasia. 6
26401274 2015
47
[Gene analysis in a family of hereditary hemorrhagic telangiectasia]. 6
25778885 2015
48
Somatic mosaicism in ACVRL1 with transmission to several offspring affected with severe pulmonary arterial hypertension. 6
24753439 2014
49
National mutation study among Danish patients with hereditary haemorrhagic telangiectasia. 6
24001356 2014
50
Long non-coding RNA expression profiles in hereditary haemorrhagic telangiectasia. 6
24603890 2014

Variations for Telangiectasia, Hereditary Hemorrhagic, Type 2

ClinVar genetic disease variations for Telangiectasia, Hereditary Hemorrhagic, Type 2:

6 (show top 50) (show all 438)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ACVRL1 NM_000020.2(ACVRL1):c.1196G>C (p.Trp399Ser) SNV Pathogenic 8255 rs121909289 GRCh37: 12:52309967-52309967
GRCh38: 12:51916183-51916183
2 ACVRL1 NM_000020.2(ACVRL1):c.1196G>T (p.Trp399Leu) SNV Pathogenic 426027 rs121909289 GRCh37: 12:52309967-52309967
GRCh38: 12:51916183-51916183
3 ACVRL1 NM_000020.2(ACVRL1):c.1460A>C (p.Lys487Thr) SNV Pathogenic 426039 rs1085307428 GRCh37: 12:52314625-52314625
GRCh38: 12:51920841-51920841
4 ACVRL1 NM_000020.2(ACVRL1):c.788A>G (p.Asp263Gly) SNV Pathogenic 426016 rs1085307408 GRCh37: 12:52309024-52309024
GRCh38: 12:51915240-51915240
5 ACVRL1 NM_000020.2(ACVRL1):c.593T>A (p.Val198Glu) SNV Pathogenic 426013 rs886043123 GRCh37: 12:52307825-52307825
GRCh38: 12:51914041-51914041
6 ACVRL1 NM_000020.2(ACVRL1):c.1280A>T (p.Asp427Val) SNV Pathogenic 426029 rs1085307420 GRCh37: 12:52312802-52312802
GRCh38: 12:51919018-51919018
7 ACVRL1 NM_000020.2(ACVRL1):c.1195T>C (p.Trp399Arg) SNV Pathogenic 426026 rs1085307418 GRCh37: 12:52309966-52309966
GRCh38: 12:51916182-51916182
8 ACVRL1 NM_000020.2(ACVRL1):c.818T>C (p.Leu273Pro) SNV Pathogenic 426017 rs1085307409 GRCh37: 12:52309054-52309054
GRCh38: 12:51915270-51915270
9 ACVRL1 NM_000020.2(ACVRL1):c.602A>G (p.Gln201Arg) SNV Pathogenic 426014 rs1085307407 GRCh37: 12:52307834-52307834
GRCh38: 12:51914050-51914050
10 ACVRL1 NM_001077401.2(ACVRL1):c.653_654inv (p.Arg218Pro) Inversion Pathogenic 426015 GRCh37: 12:52308250-52308251
GRCh38: 12:51914466-51914467
11 ACVRL1 NM_001077401.2(ACVRL1):c.1450delinsTG (p.Arg484fs) Indel Pathogenic 426038 rs1085307427 GRCh37: 12:52314615-52314615
GRCh38: 12:51920831-51920831
12 ENG NM_000118.3(ENG):c.788T>A (p.Ile263Asn) SNV Pathogenic 426042 rs1085307431 GRCh37: 9:130587538-130587538
GRCh38: 9:127825259-127825259
13 ACVRL1 NM_000020.2(ACVRL1):c.1127T>G (p.Met376Arg) SNV Pathogenic 8244 rs28936399 GRCh37: 12:52309898-52309898
GRCh38: 12:51916114-51916114
14 ACVRL1 NM_000020.2(ACVRL1):c.150G>T (p.Trp50Cys) SNV Pathogenic 8246 rs121909285 GRCh37: 12:52306971-52306971
GRCh38: 12:51913187-51913187
15 ACVRL1 NM_000020.2(ACVRL1):c.1193T>A (p.Ile398Asn) SNV Pathogenic 8248 rs121909286 GRCh37: 12:52309964-52309964
GRCh38: 12:51916180-51916180
16 ACVRL1 NM_000020.2(ACVRL1):c.632G>A (p.Gly211Asp) SNV Pathogenic 8253 rs28936687 GRCh37: 12:52308229-52308229
GRCh38: 12:51914445-51914445
17 ACVRL1 NM_000020.3(ACVRL1):c.1031G>A (p.Cys344Tyr) SNV Pathogenic 8254 rs28936688 GRCh37: 12:52309267-52309267
GRCh38: 12:51915483-51915483
18 ACVRL1 NM_000020.3(ACVRL1):c.1031G>A (p.Cys344Tyr) SNV Pathogenic 8254 rs28936688 GRCh37: 12:52309267-52309267
GRCh38: 12:51915483-51915483
19 ACVRL1 NM_000020.2(ACVRL1):c.1113_1114insG Insertion Pathogenic 8256 rs387906394 GRCh37: 12:52309884-52309885
GRCh38: 12:51916100-51916101
20 ACVRL1 NM_000020.2(ACVRL1):c.1232G>C (p.Arg411Pro) SNV Pathogenic 8257 rs121909284 GRCh37: 12:52310003-52310003
GRCh38: 12:51916219-51916219
21 ACVRL1 NM_001077401.2(ACVRL1):c.693_695CTC[1] (p.Ser233del) Microsatellite Pathogenic 236552 rs387906391 GRCh37: 12:52308290-52308292
GRCh38: 12:51914506-51914508
22 ACVRL1 NM_000020.2(ACVRL1):c.822G>A (p.Trp274Ter) SNV Pathogenic 236553 rs757645341 GRCh37: 12:52309058-52309058
GRCh38: 12:51915274-51915274
23 ACVRL1 NM_000020.2(ACVRL1):c.190del (p.Gln64fs) Deletion Pathogenic 411306 rs1060503241 GRCh37: 12:52307007-52307007
GRCh38: 12:51913223-51913223
24 ACVRL1 NM_000020.2(ACVRL1):c.889del (p.His297fs) Deletion Pathogenic 411311 rs1060503245 GRCh37: 12:52309122-52309122
GRCh38: 12:51915338-51915338
25 ACVRL1 NC_000012.12:g.(?_51920759)_(51923361_?)del Deletion Pathogenic 417555 GRCh37: 12:52314543-52317145
GRCh38: 12:51920759-51923361
26 ACVRL1 NM_000020.2(ACVRL1):c.41dup (p.Met15fs) Duplication Pathogenic 411301 rs1060503236 GRCh37: 12:52306298-52306299
GRCh38: 12:51912514-51912515
27 ACVRL1 NM_000020.3(ACVRL1):c.525+1del Deletion Pathogenic 411315 rs1060503249 GRCh37: 12:52307551-52307551
GRCh38: 12:51913767-51913767
28 ACVRL1 NM_000020.2(ACVRL1):c.199C>T (p.Arg67Trp) SNV Pathogenic 426010 rs1085307405 GRCh37: 12:52307020-52307020
GRCh38: 12:51913236-51913236
29 ACVRL1 NM_000020.2(ACVRL1):c.1324G>A (p.Val442Met) SNV Pathogenic 426030 rs1085307421 GRCh37: 12:52312846-52312846
GRCh38: 12:51919062-51919062
30 ACVRL1 NM_000020.2(ACVRL1):c.1121G>A (p.Arg374Gln) SNV Pathogenic 411314 rs1060503248 GRCh37: 12:52309892-52309892
GRCh38: 12:51916108-51916108
31 ACVRL1 NM_000020.2(ACVRL1):c.1124A>G (p.Tyr375Cys) SNV Pathogenic 426024 rs1085307416 GRCh37: 12:52309895-52309895
GRCh38: 12:51916111-51916111
32 ACVRL1 NM_000020.2(ACVRL1):c.183del (p.Arg61fs) Deletion Pathogenic 411312 rs1060503246 GRCh37: 12:52307003-52307003
GRCh38: 12:51913219-51913219
33 ACVRL1 NM_000020.2(ACVRL1):c.1121G>A (p.Arg374Gln) SNV Pathogenic 411314 rs1060503248 GRCh37: 12:52309892-52309892
GRCh38: 12:51916108-51916108
34 ACVRL1 NM_001077401.2(ACVRL1):c.619_620TG[2] (p.Val208fs) Microsatellite Pathogenic 411305 rs1060503240 GRCh37: 12:52307850-52307851
GRCh38: 12:51914066-51914067
35 ACVRL1 NM_000020.2(ACVRL1):c.1217G>A (p.Trp406Ter) SNV Pathogenic 411300 rs1060503235 GRCh37: 12:52309988-52309988
GRCh38: 12:51916204-51916204
36 ACVRL1 NC_000012.11:g.(?_52306239)_(52314697_?)del Deletion Pathogenic 464752 GRCh37: 12:52306239-52314697
GRCh38:
37 ACVRL1 NM_000020.3(ACVRL1):c.625+1del Deletion Pathogenic 464767 rs1555152815 GRCh37: 12:52307856-52307856
GRCh38: 12:51914072-51914072
38 ACVRL1 NM_000020.2(ACVRL1):c.542_545del (p.Asp181fs) Deletion Pathogenic 464765 rs1555152771 GRCh37: 12:52307772-52307775
GRCh38: 12:51913988-51913991
39 ACVRL1 NM_000020.2(ACVRL1):c.540_541insA (p.Asp181fs) Insertion Pathogenic 464763 rs1555152774 GRCh37: 12:52307772-52307773
GRCh38: 12:51913988-51913989
40 ACVRL1 NM_000020.2(ACVRL1):c.1250_1269del (p.Ile417fs) Deletion Pathogenic 464756 rs1555153796 GRCh37: 12:52312770-52312789
GRCh38: 12:51918986-51919005
41 ACVRL1 NM_000020.2(ACVRL1):c.641del (p.Gly214fs) Deletion Pathogenic 464768 rs1555152909 GRCh37: 12:52308237-52308237
GRCh38: 12:51914453-51914453
42 ACVRL1 NM_000020.2(ACVRL1):c.1436G>A (p.Arg479Gln) SNV Pathogenic 426035 rs1085307426 GRCh37: 12:52314601-52314601
GRCh38: 12:51920817-51920817
43 ACVRL1 NM_000020.2(ACVRL1):c.313+1G>T SNV Pathogenic 464761 rs1555152548 GRCh37: 12:52307135-52307135
GRCh38: 12:51913351-51913351
44 ACVRL1 NM_000020.2(ACVRL1):c.573del (p.Phe192fs) Deletion Pathogenic 464766 rs1555152786 GRCh37: 12:52307802-52307802
GRCh38: 12:51914018-51914018
45 ACVRL1 NM_001077401.2(ACVRL1):c.711_713delinsAG (p.Ser238fs) Indel Pathogenic 464769 rs1555152935 GRCh37: 12:52308308-52308310
GRCh38: 12:51914524-51914526
46 ACVRL1 NM_000020.2(ACVRL1):c.1413C>A (p.Cys471Ter) SNV Pathogenic 464759 rs1301762186 GRCh37: 12:52314578-52314578
GRCh38: 12:51920794-51920794
47 ACVRL1 NM_000020.2(ACVRL1):c.1323_1324dup (p.Val442fs) Duplication Pathogenic 464757 rs1555153830 GRCh37: 12:52312844-52312845
GRCh38: 12:51919060-51919061
48 ACVRL1 NM_000020.2(ACVRL1):c.105del (p.Cys36fs) Deletion Pathogenic 495052 rs1555152447 GRCh37: 12:52306926-52306926
GRCh38: 12:51913142-51913142
49 ACVRL1 NM_000020.2(ACVRL1):c.808_820dup (p.Trp274Ter) Duplication Pathogenic 533341 rs1555153077 GRCh37: 12:52309043-52309044
GRCh38: 12:51915259-51915260
50 ACVRL1 NM_000020.2(ACVRL1):c.58C>T (p.Gln20Ter) SNV Pathogenic 533342 rs1555152345 GRCh37: 12:52306316-52306316
GRCh38: 12:51912532-51912532

UniProtKB/Swiss-Prot genetic disease variations for Telangiectasia, Hereditary Hemorrhagic, Type 2:

72 (show top 50) (show all 82)
# Symbol AA change Variation ID SNP ID
1 ACVRL1 p.Trp50Cys VAR_006204 rs121909285
2 ACVRL1 p.Cys51Tyr VAR_006205 rs863223409
3 ACVRL1 p.Arg67Gln VAR_006206 rs863223414
4 ACVRL1 p.Cys77Trp VAR_006207
5 ACVRL1 p.Asn96Asp VAR_006208
6 ACVRL1 p.Ser333Ile VAR_006210 rs863223413
7 ACVRL1 p.Arg374Trp VAR_006211 rs28936401
8 ACVRL1 p.Met376Arg VAR_006212 rs28936399
9 ACVRL1 p.Arg411Gln VAR_006213 rs121909284
10 ACVRL1 p.Pro424Thr VAR_006214 rs108530741
11 ACVRL1 p.Gly48Arg VAR_026785
12 ACVRL1 p.Arg67Trp VAR_026786 rs108530740
13 ACVRL1 p.Asp179Ala VAR_026787 rs753792569
14 ACVRL1 p.Gly211Asp VAR_026788 rs28936687
15 ACVRL1 p.Glu215Lys VAR_026789 rs754283265
16 ACVRL1 p.Gly223Arg VAR_026790
17 ACVRL1 p.Lys229Arg VAR_026791
18 ACVRL1 p.Leu285Phe VAR_026794 rs108530741
19 ACVRL1 p.Ala306Pro VAR_026795
20 ACVRL1 p.His314Tyr VAR_026796 rs156559431
21 ACVRL1 p.Leu337Pro VAR_026797
22 ACVRL1 p.Cys344Tyr VAR_026798 rs28936688
23 ACVRL1 p.Ala347Pro VAR_026799
24 ACVRL1 p.Arg374Gln VAR_026800 rs106050324
25 ACVRL1 p.Met376Val VAR_026801 rs155515327
26 ACVRL1 p.Pro378Leu VAR_026802
27 ACVRL1 p.Glu379Lys VAR_026803 rs113169168
28 ACVRL1 p.Asp397Gly VAR_026804
29 ACVRL1 p.Ile398Asn VAR_026805 rs121909286
30 ACVRL1 p.Trp399Ser VAR_026806 rs121909289
31 ACVRL1 p.Glu407Asp VAR_026807 rs156559512
32 ACVRL1 p.Arg411Pro VAR_026808 rs121909284
33 ACVRL1 p.Arg411Trp VAR_026809 rs121909287
34 ACVRL1 p.Phe425Leu VAR_026810
35 ACVRL1 p.Phe425Val VAR_026811
36 ACVRL1 p.Arg479Leu VAR_026813
37 ACVRL1 p.Ala482Val VAR_026814 rs139142865
38 ACVRL1 p.Arg484Trp VAR_026815 rs121909288
39 ACVRL1 p.Lys487Thr VAR_026816 rs108530742
40 ACVRL1 p.Cys34Tyr VAR_070309
41 ACVRL1 p.Trp50Gly VAR_070311
42 ACVRL1 p.Thr52Ala VAR_070312 rs113169134
43 ACVRL1 p.His66Pro VAR_070313
44 ACVRL1 p.Cys69Arg VAR_070314
45 ACVRL1 p.Asn96Ser VAR_070315
46 ACVRL1 p.Asp176Tyr VAR_070317
47 ACVRL1 p.Thr197Ile VAR_070318
48 ACVRL1 p.Trp217Gly VAR_070319
49 ACVRL1 p.Gly219Asp VAR_070320
50 ACVRL1 p.Val226Glu VAR_070321 rs156559363

Expression for Telangiectasia, Hereditary Hemorrhagic, Type 2

Search GEO for disease gene expression data for Telangiectasia, Hereditary Hemorrhagic, Type 2.

Pathways for Telangiectasia, Hereditary Hemorrhagic, Type 2

Pathways related to Telangiectasia, Hereditary Hemorrhagic, Type 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.61 ENG ACVRL1

GO Terms for Telangiectasia, Hereditary Hemorrhagic, Type 2

Cellular components related to Telangiectasia, Hereditary Hemorrhagic, Type 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 receptor complex GO:0043235 8.62 ENG ACVRL1

Biological processes related to Telangiectasia, Hereditary Hemorrhagic, Type 2 according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of gene expression GO:0010629 9.54 ENG ACVRL1
2 angiogenesis GO:0001525 9.52 ENG ACVRL1
3 heart development GO:0007507 9.51 ENG ACVRL1
4 response to hypoxia GO:0001666 9.49 ENG ACVRL1
5 positive regulation of angiogenesis GO:0045766 9.48 ENG ACVRL1
6 negative regulation of cell migration GO:0030336 9.46 ENG ACVRL1
7 transforming growth factor beta receptor signaling pathway GO:0007179 9.43 ENG ACVRL1
8 BMP signaling pathway GO:0030509 9.4 ENG ACVRL1
9 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.37 ENG ACVRL1
10 negative regulation of endothelial cell proliferation GO:0001937 9.32 ENG ACVRL1
11 positive regulation of BMP signaling pathway GO:0030513 9.26 ENG ACVRL1
12 endocardial cushion morphogenesis GO:0003203 9.16 ENG ACVRL1
13 dorsal aorta morphogenesis GO:0035912 8.96 ENG ACVRL1
14 endocardial cushion to mesenchymal transition GO:0090500 8.62 ENG ACVRL1

Molecular functions related to Telangiectasia, Hereditary Hemorrhagic, Type 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transforming growth factor beta binding GO:0050431 9.16 ENG ACVRL1
2 activin binding GO:0048185 8.96 ENG ACVRL1
3 transforming growth factor beta-activated receptor activity GO:0005024 8.62 ENG ACVRL1

Sources for Telangiectasia, Hereditary Hemorrhagic, Type 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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