HHT5
MCID: TLN008
MIFTS: 24

Telangiectasia, Hereditary Hemorrhagic, Type 5 (HHT5)

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 5

MalaCards integrated aliases for Telangiectasia, Hereditary Hemorrhagic, Type 5:

Name: Telangiectasia, Hereditary Hemorrhagic, Type 5 57 29 6 70
Hht5 57 72
Telangiectasia, Hemorrhagic, Hereditary, Type 5 39
Telangiectasia, Hereditary Hemorrhagic, 5 72

Characteristics:

OMIM®:

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

Miscellaneous:
incidence of 1 in 5,000-8,000


HPO:

31
telangiectasia, hereditary hemorrhagic, type 5:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 615506
OMIM Phenotypic Series 57 PS187300
MeSH 44 D013683
UMLS 70 C3809710

Summaries for Telangiectasia, Hereditary Hemorrhagic, Type 5

OMIM® : 57 Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant syndrome characterized by telangiectases and arteriovenous malformations (AVMs). Hallmark features are recurrent epistaxis due to telangiectases of the nasal mucosa; telangiectases on the lips, hands, and oral mucosa; solid-organ AVMs, particularly of the lungs, liver, and brain; and a family history of the same. Presentation with 3 of these criteria is considered diagnostic for HHT (summary by Wooderchak-Donahue et al., 2013). (615506) (Updated 05-Apr-2021)

MalaCards based summary : Telangiectasia, Hereditary Hemorrhagic, Type 5, is also known as hht5, and has symptoms including spontaneous, recurrent epistaxis An important gene associated with Telangiectasia, Hereditary Hemorrhagic, Type 5 is GDF2 (Growth Differentiation Factor 2). Affiliated tissues include liver, and related phenotypes are portal hypertension and elevated hepatic transaminase

UniProtKB/Swiss-Prot : 72 Telangiectasia, hereditary hemorrhagic, 5: 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 5

Symptoms & Phenotypes for Telangiectasia, Hereditary Hemorrhagic, Type 5

Human phenotypes related to Telangiectasia, Hereditary Hemorrhagic, Type 5:

31
# Description HPO Frequency HPO Source Accession
1 portal hypertension 31 very rare (1%) HP:0001409
2 elevated hepatic transaminase 31 very rare (1%) HP:0002910
3 telangiectasia 31 very rare (1%) HP:0001009
4 spontaneous, recurrent epistaxis 31 very rare (1%) HP:0004406

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Nose:
spontaneous, recurrent epistaxis

Abdomen Liver:
abnormal liver enzymes (in some patients)
prominent, slightly corkscrew appearance of branches of hepatic artery on mri (in one patient)
portal hypertension (in some patients)
heterogeneous arterial phase on mri (in one patient)

Head And Neck Mouth:
cutaneous telangiectases

Cardiovascular Vascular:
prominent, slightly corkscrew appearance of branches of hepatic artery on mri (in one patient)

Skin Nails Hair Skin Histology:
telangiectases

Head And Neck Face:
cutaneous telangiectases

Chest External Features:
cutaneous telangiectases

Skin Nails Hair Skin:
cutaneous telangiectases of face, upper chest, upper mid-back, upper extremities, and hands

Clinical features from OMIM®:

615506 (Updated 05-Apr-2021)

UMLS symptoms related to Telangiectasia, Hereditary Hemorrhagic, Type 5:


spontaneous, recurrent epistaxis

Drugs & Therapeutics for Telangiectasia, Hereditary Hemorrhagic, Type 5

Search Clinical Trials , NIH Clinical Center for Telangiectasia, Hereditary Hemorrhagic, Type 5

Genetic Tests for Telangiectasia, Hereditary Hemorrhagic, Type 5

Genetic tests related to Telangiectasia, Hereditary Hemorrhagic, Type 5:

# Genetic test Affiliating Genes
1 Telangiectasia, Hereditary Hemorrhagic, Type 5 29 GDF2

Anatomical Context for Telangiectasia, Hereditary Hemorrhagic, Type 5

MalaCards organs/tissues related to Telangiectasia, Hereditary Hemorrhagic, Type 5:

40
Liver

Publications for Telangiectasia, Hereditary Hemorrhagic, Type 5

Articles related to Telangiectasia, Hereditary Hemorrhagic, Type 5:

# Title Authors PMID Year
1
BMP9 mutations cause a vascular-anomaly syndrome with phenotypic overlap with hereditary hemorrhagic telangiectasia. 57 6
23972370 2013
2
Characterization of GDF2 Mutations and Levels of BMP9 and BMP10 in Pulmonary Arterial Hypertension. 6
31661308 2020
3
Research on potential biomarkers in hereditary hemorrhagic telangiectasia. 61
25873934 2015

Variations for Telangiectasia, Hereditary Hemorrhagic, Type 5

ClinVar genetic disease variations for Telangiectasia, Hereditary Hemorrhagic, Type 5:

6 (show all 49)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GDF2 NM_016204.4(GDF2):c.254C>T (p.Pro85Leu) SNV Pathogenic 88650 rs199804679 GRCh37: 10:48416440-48416440
GRCh38: 10:47322922-47322922
2 GDF2 NM_016204.4(GDF2):c.203G>T (p.Arg68Leu) SNV Pathogenic 88651 rs200330818 GRCh37: 10:48416491-48416491
GRCh38: 10:47322871-47322871
3 GDF2 NM_016204.4(GDF2):c.1051T>C (p.Tyr351His) SNV Likely pathogenic 650693 rs1486994359 GRCh37: 10:48413817-48413817
GRCh38: 10:47325545-47325545
4 GDF2 NM_016204.4(GDF2):c.776A>G (p.Asn259Ser) SNV Conflicting interpretations of pathogenicity 695332 rs140271276 GRCh37: 10:48414092-48414092
GRCh38: 10:47325270-47325270
5 GDF2 NM_016204.4(GDF2):c.917G>A (p.Gly306Asp) SNV Uncertain significance 993581 GRCh37: 10:48413951-48413951
GRCh38: 10:47325411-47325411
6 GDF2 NM_016204.4(GDF2):c.716C>T (p.Thr239Met) SNV Uncertain significance 698369 rs782560993 GRCh37: 10:48414152-48414152
GRCh38: 10:47325210-47325210
7 GDF2 NM_016204.4(GDF2):c.847G>A (p.Val283Met) SNV Uncertain significance 430360 rs138904328 GRCh37: 10:48414021-48414021
GRCh38: 10:47325341-47325341
8 GDF2 NC_000010.10:g.(?_48413568)_(48416703_?)dup Duplication Uncertain significance 830676 GRCh37: 10:48413568-48416703
GRCh38:
9 GDF2 NM_016204.4(GDF2):c.646C>T (p.Arg216Trp) SNV Uncertain significance 855657 GRCh37: 10:48414222-48414222
GRCh38: 10:47325140-47325140
10 GDF2 NM_016204.4(GDF2):c.740G>T (p.Gly247Val) SNV Uncertain significance 474672 rs369219783 GRCh37: 10:48414128-48414128
GRCh38: 10:47325234-47325234
11 GDF2 NM_016204.4(GDF2):c.1023G>C (p.Trp341Cys) SNV Uncertain significance 474669 rs1555209063 GRCh37: 10:48413845-48413845
GRCh38: 10:47325517-47325517
12 GDF2 NM_016204.4(GDF2):c.1063G>A (p.Glu355Lys) SNV Uncertain significance 474670 rs1200646207 GRCh37: 10:48413805-48413805
GRCh38: 10:47325557-47325557
13 GDF2 NC_000010.10:g.(?_48413558)_(48416713_?)del Deletion Uncertain significance 474668 GRCh37: 10:48413558-48416713
GRCh38:
14 GDF2 NM_016204.4(GDF2):c.286T>C (p.Tyr96His) SNV Uncertain significance 474671 rs142466901 GRCh37: 10:48416408-48416408
GRCh38: 10:47322954-47322954
15 GDF2 NM_016204.4(GDF2):c.1267G>A (p.Val423Met) SNV Uncertain significance 541539 rs1358534877 GRCh37: 10:48413601-48413601
GRCh38: 10:47325761-47325761
16 GDF2 NM_016204.4(GDF2):c.89G>C (p.Arg30Pro) SNV Uncertain significance 541540 rs368827442 GRCh37: 10:48416605-48416605
GRCh38: 10:47322757-47322757
17 GDF2 NM_016204.4(GDF2):c.76C>T (p.Gln26Ter) SNV Uncertain significance 541541 rs1555208696 GRCh37: 10:48416618-48416618
GRCh38: 10:47322744-47322744
18 GDF2 NM_016204.4(GDF2):c.637C>T (p.Arg213Cys) SNV Uncertain significance 568587 rs1555208917 GRCh37: 10:48414231-48414231
GRCh38: 10:47325131-47325131
19 GDF2 NM_016204.4(GDF2):c.619G>T (p.Val207Leu) SNV Uncertain significance 579429 rs148262680 GRCh37: 10:48414249-48414249
GRCh38: 10:47325113-47325113
20 GDF2 NM_016204.4(GDF2):c.1040C>T (p.Ala347Val) SNV Uncertain significance 646444 rs782452633 GRCh37: 10:48413828-48413828
GRCh38: 10:47325534-47325534
21 GDF2 NM_016204.4(GDF2):c.203G>A (p.Arg68His) SNV Uncertain significance 646500 rs200330818 GRCh37: 10:48416491-48416491
GRCh38: 10:47322871-47322871
22 GDF2 NM_016204.4(GDF2):c.949C>T (p.Arg317Trp) SNV Uncertain significance 646567 rs559992144 GRCh37: 10:48413919-48413919
GRCh38: 10:47325443-47325443
23 GDF2 NM_016204.4(GDF2):c.1255G>A (p.Glu419Lys) SNV Uncertain significance 651637 rs782137039 GRCh37: 10:48413613-48413613
GRCh38: 10:47325749-47325749
24 GDF2 NM_016204.4(GDF2):c.64G>A (p.Gly22Arg) SNV Uncertain significance 652255 rs1555208692 GRCh37: 10:48416630-48416630
GRCh38: 10:47322732-47322732
25 GDF2 NM_016204.4(GDF2):c.964G>A (p.Gly322Arg) SNV Uncertain significance 658226 rs782796080 GRCh37: 10:48413904-48413904
GRCh38: 10:47325458-47325458
26 GDF2 NM_016204.4(GDF2):c.1207G>A (p.Val403Ile) SNV Uncertain significance 950559 GRCh37: 10:48413661-48413661
GRCh38: 10:47325701-47325701
27 GDF2 NM_016204.4(GDF2):c.221G>A (p.Gly74Glu) SNV Uncertain significance 970260 GRCh37: 10:48416473-48416473
GRCh38: 10:47322889-47322889
28 GDF2 NM_016204.4(GDF2):c.871G>A (p.Gly291Ser) SNV Uncertain significance 390215 rs201711410 GRCh37: 10:48413997-48413997
GRCh38: 10:47325365-47325365
29 GDF2 NM_016204.4(GDF2):c.930G>A (p.Ala310=) SNV Uncertain significance 947734 GRCh37: 10:48413938-48413938
GRCh38: 10:47325424-47325424
30 GDF2 NC_000010.10:g.(?_48413568)_(48416703_?)del Deletion Uncertain significance 1008075 GRCh37: 10:48413568-48416703
GRCh38:
31 GDF2 NM_016204.4(GDF2):c.314C>T (p.Ala105Val) SNV Uncertain significance 949473 GRCh37: 10:48416380-48416380
GRCh38: 10:47322982-47322982
32 GDF2 NM_016204.4(GDF2):c.252G>A (p.Glu84=) SNV Uncertain significance 1033807 GRCh37: 10:48416442-48416442
GRCh38: 10:47322920-47322920
33 GDF2 NM_016204.4(GDF2):c.348T>C (p.Asp116=) SNV Uncertain significance 982492 GRCh37: 10:48414520-48414520
GRCh38: 10:47324842-47324842
34 GDF2 NM_016204.4(GDF2):c.1290G>A (p.Ter430=) SNV Likely benign 374605 rs139568056 GRCh37: 10:48413578-48413578
GRCh38: 10:47325784-47325784
35 GDF2 NM_016204.4(GDF2):c.326T>C (p.Val109Ala) SNV Likely benign 698205 rs782118500 GRCh37: 10:48416368-48416368
GRCh38: 10:47322994-47322994
36 GDF2 NM_016204.4(GDF2):c.711C>T (p.Cys237=) SNV Likely benign 699621 rs146775536 GRCh37: 10:48414157-48414157
GRCh38: 10:47325205-47325205
37 GDF2 NM_016204.4(GDF2):c.963C>A (p.Ala321=) SNV Likely benign 699941 rs370309301 GRCh37: 10:48413905-48413905
GRCh38: 10:47325457-47325457
38 GDF2 NM_016204.4(GDF2):c.732C>T (p.Val244=) SNV Likely benign 706045 rs145385373 GRCh37: 10:48414136-48414136
GRCh38: 10:47325226-47325226
39 GDF2 NM_016204.4(GDF2):c.997C>T (p.Arg333Trp) SNV Likely benign 88652 rs35129734 GRCh37: 10:48413871-48413871
GRCh38: 10:47325491-47325491
40 GDF2 NM_016204.4(GDF2):c.478G>A (p.Val160Met) SNV Likely benign 697085 rs144705412 GRCh37: 10:48414390-48414390
GRCh38: 10:47324972-47324972
41 GDF2 NM_016204.4(GDF2):c.1068T>C (p.Cys356=) SNV Likely benign 697259 rs781876898 GRCh37: 10:48413800-48413800
GRCh38: 10:47325562-47325562
42 GDF2 NM_016204.4(GDF2):c.69G>T (p.Lys23Asn) SNV Likely benign 993754 GRCh37: 10:48416625-48416625
GRCh38: 10:47322737-47322737
43 GDF2 NM_016204.4(GDF2):c.352A>T (p.Ile118Phe) SNV Likely benign 993986 GRCh37: 10:48414516-48414516
GRCh38: 10:47324846-47324846
44 GDF2 NM_016204.4(GDF2):c.1017C>T (p.Ile339=) SNV Benign 381779 rs148730910 GRCh37: 10:48413851-48413851
GRCh38: 10:47325511-47325511
45 GDF2 NM_016204.4(GDF2):c.346+10C>T SNV Benign 515941 rs117345807 GRCh37: 10:48416338-48416338
GRCh38: 10:47323024-47323024
46 GDF2 NM_016204.4(GDF2):c.378C>A (p.Phe126Leu) SNV Benign 697788 rs180821007 GRCh37: 10:48414490-48414490
GRCh38: 10:47324872-47324872
47 GDF2 NM_016204.4(GDF2):c.911C>T (p.Thr304Met) SNV Benign 474673 rs75024165 GRCh37: 10:48413957-48413957
GRCh38: 10:47325405-47325405
48 GDF2 NM_016204.4(GDF2):c.652G>A (p.Asp218Asn) SNV Benign 695467 rs142402214 GRCh37: 10:48414216-48414216
GRCh38: 10:47325146-47325146
49 GDF2 NM_016204.4(GDF2):c.34C>T (p.Leu12=) SNV Benign 678674 rs61758973 GRCh37: 10:48416660-48416660
GRCh38: 10:47322702-47322702

UniProtKB/Swiss-Prot genetic disease variations for Telangiectasia, Hereditary Hemorrhagic, Type 5:

72
# Symbol AA change Variation ID SNP ID
1 GDF2 p.Arg68Leu VAR_070689 rs200330818
2 GDF2 p.Pro85Leu VAR_070690 rs199804679
3 GDF2 p.Arg333Trp VAR_070691 rs35129734

Expression for Telangiectasia, Hereditary Hemorrhagic, Type 5

Search GEO for disease gene expression data for Telangiectasia, Hereditary Hemorrhagic, Type 5.

Pathways for Telangiectasia, Hereditary Hemorrhagic, Type 5

GO Terms for Telangiectasia, Hereditary Hemorrhagic, Type 5

Sources for Telangiectasia, Hereditary Hemorrhagic, Type 5

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
Content
Loading form....