MCID: TLN011
MIFTS: 34

Telangiectasia, Hereditary Hemorrhagic, Type 2

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 2

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

Name: Telangiectasia, Hereditary Hemorrhagic, Type 2 57 13
Hereditary Hemorrhagic Telangiectasia Type 2 53 29 6
Hht2 57 53 75
Telangiectasia, Hemorrhagic, Hereditary, Type 2 40
Telangiectasia Hereditary Hemorrhagic Type 2 53
Telangiectasia, Hereditary Hemorrhagic, 2 75
Osler Weber Rendu Syndrome Type 2 53
Osler-Rendu-Weber Syndrome 2 73
Orw2 53

Characteristics:

OMIM:

57
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:

32
telangiectasia, hereditary hemorrhagic, type 2:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



Summaries for Telangiectasia, Hereditary Hemorrhagic, Type 2

UniProtKB/Swiss-Prot : 75 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 hereditary hemorrhagic telangiectasia type 2, is related to hereditary hemorrhagic telangiectasia and pulmonary arteriovenous fistulas, and has symptoms including cyanosis, dyspnea and seizures. An important gene associated with Telangiectasia, Hereditary Hemorrhagic, Type 2 is ACVRL1 (Activin A Receptor Like Type 1). Affiliated tissues include liver, brain and lung, and related phenotypes are hypertension and seizures

Description from OMIM: 600376

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:

# Related Disease Score Top Affiliating Genes
1 hereditary hemorrhagic telangiectasia 10.3
2 pulmonary arteriovenous fistulas 9.9
3 arteriovenous malformation 9.9
4 angiodysplasia 9.9
5 pulmonary arteriovenous malformation 9.9

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

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
liver arteriovenous malformation

Head And Neck Eyes:
conjunctival telangiectases
choriocapillaris atrophy

Head And Neck Mouth:
lip telangiectases
tongue telangiectases
palate telangiectases

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)

Hematology:
anemia
polycythemia

Abdomen Gastrointestinal:
arteriovenous malformation
hematemesis
hematochezia
melena
angiodysplasia
more
Respiratory Lung:
cyanosis
pulmonary arteriovenous malformation (pavm)
a subset of patients develop pulmonary arterial hypertension

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

Cardiovascular Heart:
right-to-left shunt

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


Clinical features from OMIM:

600376

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

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

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


cyanosis, dyspnea, seizures

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 Hereditary Hemorrhagic Telangiectasia Type 2 29 ACVRL1

Anatomical Context for Telangiectasia, Hereditary Hemorrhagic, Type 2

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

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

Publications for Telangiectasia, Hereditary Hemorrhagic, Type 2

Articles related to Telangiectasia, Hereditary Hemorrhagic, Type 2:

# Title Authors Year
1
Heart failure and pulmonary arteriovenous malformations in a patient with hereditary hemorrhagic telangiectasia type 2. ( 26245826 )
2015
2
Gastric angiodysplasia in a hereditary hemorrhagic telangiectasia type 2 patient. ( 22553411 )
2012
3
ALK5- and TGFBR2-independent role of ALK1 in the pathogenesis of hereditary hemorrhagic telangiectasia type 2. ( 17911384 )
2008
4
Three novel mutations in the activin receptor-like kinase 1 (ALK-1) gene in hereditary hemorrhagic telangiectasia type 2 in Brazilian patients. ( 17219009 )
2007
5
A novel mutation in ALK-1 causes hereditary hemorrhagic telangiectasia type 2. ( 16861286 )
2006
6
Analysis of ALK-1 and endoglin in newborns from families with hereditary hemorrhagic telangiectasia type 2. ( 10767348 )
2000
7
The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2. ( 9245985 )
1997

Variations for Telangiectasia, Hereditary Hemorrhagic, Type 2

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

75 (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
11 ACVRL1 p.Gly48Arg VAR_026785
12 ACVRL1 p.Arg67Trp VAR_026786
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
19 ACVRL1 p.Ala306Pro VAR_026795
20 ACVRL1 p.His314Tyr VAR_026796
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
25 ACVRL1 p.Met376Val VAR_026801
26 ACVRL1 p.Pro378Leu VAR_026802
27 ACVRL1 p.Glu379Lys VAR_026803
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
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
40 ACVRL1 p.Cys34Tyr VAR_070309
41 ACVRL1 p.Trp50Gly VAR_070311
42 ACVRL1 p.Thr52Ala VAR_070312
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

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

6
(show top 50) (show all 209)
# Gene Variation Type Significance SNP ID Assembly Location
1 ACVRL1 NM_000020.2(ACVRL1): c.1232G> A (p.Arg411Gln) single nucleotide variant Pathogenic rs121909284 GRCh37 Chromosome 12, 52310003: 52310003
2 ACVRL1 NM_000020.2(ACVRL1): c.1232G> A (p.Arg411Gln) single nucleotide variant Pathogenic rs121909284 GRCh38 Chromosome 12, 51916219: 51916219
3 ACVRL1 NM_000020.2(ACVRL1): c.1127T> G (p.Met376Arg) single nucleotide variant Pathogenic rs28936399 GRCh37 Chromosome 12, 52309898: 52309898
4 ACVRL1 NM_000020.2(ACVRL1): c.1127T> G (p.Met376Arg) single nucleotide variant Pathogenic rs28936399 GRCh38 Chromosome 12, 51916114: 51916114
5 ACVRL1 NM_000020.2(ACVRL1): c.150G> T (p.Trp50Cys) single nucleotide variant Pathogenic rs121909285 GRCh37 Chromosome 12, 52306971: 52306971
6 ACVRL1 NM_000020.2(ACVRL1): c.150G> T (p.Trp50Cys) single nucleotide variant Pathogenic rs121909285 GRCh38 Chromosome 12, 51913187: 51913187
7 ACVRL1 NM_000020.2(ACVRL1): c.143_147delGGGCCinsAGCCT (p.GlyAla48_49GluPro) indel Pathogenic rs387906392 GRCh37 Chromosome 12, 52306964: 52306968
8 ACVRL1 NM_000020.2(ACVRL1): c.143_147delGGGCCinsAGCCT (p.GlyAla48_49GluPro) indel Pathogenic rs387906392 GRCh38 Chromosome 12, 51913180: 51913184
9 ACVRL1 NM_000020.2(ACVRL1): c.1193T> A (p.Ile398Asn) single nucleotide variant Pathogenic rs121909286 GRCh37 Chromosome 12, 52309964: 52309964
10 ACVRL1 NM_000020.2(ACVRL1): c.1193T> A (p.Ile398Asn) single nucleotide variant Pathogenic rs121909286 GRCh38 Chromosome 12, 51916180: 51916180
11 ACVRL1 NM_000020.2(ACVRL1): c.1120C> T (p.Arg374Trp) single nucleotide variant Pathogenic rs28936401 GRCh37 Chromosome 12, 52309891: 52309891
12 ACVRL1 NM_000020.2(ACVRL1): c.1120C> T (p.Arg374Trp) single nucleotide variant Pathogenic rs28936401 GRCh38 Chromosome 12, 51916107: 51916107
13 ACVRL1 NM_000020.2(ACVRL1): c.760_762delGAC (p.Asp254del) deletion Pathogenic rs387906393 GRCh37 Chromosome 12, 52308357: 52308359
14 ACVRL1 NM_000020.2(ACVRL1): c.760_762delGAC (p.Asp254del) deletion Pathogenic rs387906393 GRCh38 Chromosome 12, 51914573: 51914575
15 ACVRL1 NM_000020.2(ACVRL1): c.1231C> T (p.Arg411Trp) single nucleotide variant Pathogenic rs121909287 GRCh37 Chromosome 12, 52310002: 52310002
16 ACVRL1 NM_000020.2(ACVRL1): c.1231C> T (p.Arg411Trp) single nucleotide variant Pathogenic rs121909287 GRCh38 Chromosome 12, 51916218: 51916218
17 ACVRL1 NM_000020.2(ACVRL1): c.1450C> T (p.Arg484Trp) single nucleotide variant Pathogenic rs121909288 GRCh37 Chromosome 12, 52314615: 52314615
18 ACVRL1 NM_000020.2(ACVRL1): c.1450C> T (p.Arg484Trp) single nucleotide variant Pathogenic rs121909288 GRCh38 Chromosome 12, 51920831: 51920831
19 ACVRL1 NM_000020.2(ACVRL1): c.1031G> A (p.Cys344Tyr) single nucleotide variant Pathogenic rs28936688 GRCh37 Chromosome 12, 52309267: 52309267
20 ACVRL1 NM_000020.2(ACVRL1): c.1031G> A (p.Cys344Tyr) single nucleotide variant Pathogenic rs28936688 GRCh38 Chromosome 12, 51915483: 51915483
21 ACVRL1 NM_000020.2(ACVRL1): c.1113_1114insG (p.Thr372Aspfs) insertion Pathogenic rs387906394 GRCh37 Chromosome 12, 52309884: 52309885
22 ACVRL1 NM_000020.2(ACVRL1): c.1113_1114insG (p.Thr372Aspfs) insertion Pathogenic rs387906394 GRCh38 Chromosome 12, 51916100: 51916101
23 ACVRL1 NM_000020.2(ACVRL1): c.1232G> C (p.Arg411Pro) single nucleotide variant Pathogenic rs121909284 GRCh37 Chromosome 12, 52310003: 52310003
24 ACVRL1 NM_000020.2(ACVRL1): c.1232G> C (p.Arg411Pro) single nucleotide variant Pathogenic rs121909284 GRCh38 Chromosome 12, 51916219: 51916219
25 ACVRL1 NM_000020.2(ACVRL1): c.145G> C (p.Ala49Pro) single nucleotide variant not provided rs267606633 GRCh38 Chromosome 12, 51913182: 51913182
26 ACVRL1 NM_000020.2(ACVRL1): c.145G> C (p.Ala49Pro) single nucleotide variant not provided rs267606633 GRCh37 Chromosome 12, 52306966: 52306966
27 ACVRL1 NM_000020.2(ACVRL1): c.143G> A (p.Gly48Glu) single nucleotide variant not provided rs267606632 GRCh38 Chromosome 12, 51913180: 51913180
28 ACVRL1 NM_000020.2(ACVRL1): c.143G> A (p.Gly48Glu) single nucleotide variant not provided rs267606632 GRCh37 Chromosome 12, 52306964: 52306964
29 ACVRL1 NM_000020.2(ACVRL1): c.1445C> T (p.Ala482Val) single nucleotide variant Conflicting interpretations of pathogenicity rs139142865 GRCh37 Chromosome 12, 52314610: 52314610
30 ACVRL1 NM_000020.2(ACVRL1): c.1445C> T (p.Ala482Val) single nucleotide variant Conflicting interpretations of pathogenicity rs139142865 GRCh38 Chromosome 12, 51920826: 51920826
31 ACVRL1 NM_000020.2(ACVRL1): c.145dupG (p.Ala49Glyfs) duplication Pathogenic rs863223415 GRCh38 Chromosome 12, 51913182: 51913182
32 ACVRL1 NM_000020.2(ACVRL1): c.145dupG (p.Ala49Glyfs) duplication Pathogenic rs863223415 GRCh37 Chromosome 12, 52306966: 52306966
33 ACVRL1 NM_000020.2(ACVRL1): c.200G> A (p.Arg67Gln) single nucleotide variant Pathogenic rs863223414 GRCh38 Chromosome 12, 51913237: 51913237
34 ACVRL1 NM_000020.2(ACVRL1): c.200G> A (p.Arg67Gln) single nucleotide variant Pathogenic rs863223414 GRCh37 Chromosome 12, 52307021: 52307021
35 ACVRL1 NM_000020.2(ACVRL1): c.330G> A (p.Ser110=) single nucleotide variant Benign/Likely benign rs77341011 GRCh38 Chromosome 12, 51913575: 51913575
36 ACVRL1 NM_000020.2(ACVRL1): c.330G> A (p.Ser110=) single nucleotide variant Benign/Likely benign rs77341011 GRCh37 Chromosome 12, 52307359: 52307359
37 ACVRL1 NM_000020.2(ACVRL1): c.430C> T (p.Arg144Ter) single nucleotide variant Pathogenic rs758683062 GRCh37 Chromosome 12, 52307459: 52307459
38 ACVRL1 NM_000020.2(ACVRL1): c.430C> T (p.Arg144Ter) single nucleotide variant Pathogenic rs758683062 GRCh38 Chromosome 12, 51913675: 51913675
39 ACVRL1 NM_000020.2(ACVRL1): c.747G> A (p.Val249=) single nucleotide variant Benign/Likely benign rs1058563 GRCh38 Chromosome 12, 51914560: 51914560
40 ACVRL1 NM_000020.2(ACVRL1): c.747G> A (p.Val249=) single nucleotide variant Benign/Likely benign rs1058563 GRCh37 Chromosome 12, 52308344: 52308344
41 ACVRL1 NM_000020.2(ACVRL1): c.986G> A (p.Arg329His) single nucleotide variant Pathogenic/Likely pathogenic rs863223412 GRCh38 Chromosome 12, 51915438: 51915438
42 ACVRL1 NM_000020.2(ACVRL1): c.986G> A (p.Arg329His) single nucleotide variant Pathogenic/Likely pathogenic rs863223412 GRCh37 Chromosome 12, 52309222: 52309222
43 ACVRL1 NM_000020.2(ACVRL1): c.1451G> A (p.Arg484Gln) single nucleotide variant Pathogenic rs863223408 GRCh38 Chromosome 12, 51920832: 51920832
44 ACVRL1 NM_000020.2(ACVRL1): c.1451G> A (p.Arg484Gln) single nucleotide variant Pathogenic rs863223408 GRCh37 Chromosome 12, 52314616: 52314616
45 ACVRL1 NM_000020.2(ACVRL1): c.626-59delG deletion Likely benign rs864622702 GRCh38 Chromosome 12, 51914380: 51914380
46 ACVRL1 NM_000020.2(ACVRL1): c.626-59delG deletion Likely benign rs864622702 GRCh37 Chromosome 12, 52308164: 52308164
47 ACVRL1 NM_000020.2(ACVRL1): c.696_698delCTC (p.Ser233del) deletion Pathogenic rs387906391 GRCh38 Chromosome 12, 51914509: 51914511
48 ACVRL1 NM_000020.2(ACVRL1): c.696_698delCTC (p.Ser233del) deletion Pathogenic rs387906391 GRCh37 Chromosome 12, 52308293: 52308295
49 ACVRL1 NM_000020.2(ACVRL1): c.822G> A (p.Trp274Ter) single nucleotide variant Pathogenic rs757645341 GRCh37 Chromosome 12, 52309058: 52309058
50 ACVRL1 NM_000020.2(ACVRL1): c.822G> A (p.Trp274Ter) single nucleotide variant Pathogenic rs757645341 GRCh38 Chromosome 12, 51915274: 51915274

Expression for Telangiectasia, Hereditary Hemorrhagic, Type 2

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Pathways for Telangiectasia, Hereditary Hemorrhagic, Type 2

GO Terms for Telangiectasia, Hereditary Hemorrhagic, Type 2

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