HHT5
MCID: TLN008
MIFTS: 26

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, 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 56 29 6 71
Hht5 56 73
Telangiectasia, Hemorrhagic, Hereditary, Type 5 39
Telangiectasia, Hereditary Hemorrhagic, 5 73

Characteristics:

OMIM:

56
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 56 615506
OMIM Phenotypic Series 56 PS187300
MeSH 43 D013683
UMLS 71 C3809710

Summaries for Telangiectasia, Hereditary Hemorrhagic, Type 5

OMIM : 56 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)

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, brain and lung, and related phenotypes are portal hypertension and elevated hepatic transaminase

UniProtKB/Swiss-Prot : 73 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 occasional (7.5%) HP:0001409
2 elevated hepatic transaminase 31 occasional (7.5%) HP:0002910
3 spontaneous, recurrent epistaxis 31 HP:0004406
4 telangiectasia 31 HP:0001009

Symptoms via clinical synopsis from OMIM:

56
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

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


spontaneous, recurrent epistaxis

Drugs & Therapeutics for Telangiectasia, Hereditary Hemorrhagic, Type 5

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Prospective Descriptive Study of the Angiogenic T Cell Population in Subjects With Hereditary Hemorrhagic Telangiectasia (HHT) Recruiting NCT03572556

Search 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, Brain, Lung, Skin, T Cells

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. 6 56
23972370 2013
2
Hereditary Hemorrhagic Telangiectasia 6
20301525 2000
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 26) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GDF2 NM_016204.4(GDF2):c.254C>T (p.Pro85Leu)SNV Pathogenic 88650 rs199804679 10:48416440-48416440 10:47322922-47322922
2 GDF2 NM_016204.4(GDF2):c.203G>T (p.Arg68Leu)SNV Pathogenic 88651 rs200330818 10:48416491-48416491 10:47322871-47322871
3 GDF2 NM_016204.4(GDF2):c.997C>T (p.Arg333Trp)SNV Pathogenic 88652 rs35129734 10:48413871-48413871 10:47325491-47325491
4 GDF2 NM_016204.4(GDF2):c.1290G>A (p.Ter430=)SNV Conflicting interpretations of pathogenicity 374605 rs139568056 10:48413578-48413578 10:47325784-47325784
5 GDF2 NM_016204.4(GDF2):c.871G>A (p.Gly291Ser)SNV Uncertain significance 390215 rs201711410 10:48413997-48413997 10:47325365-47325365
6 GDF2 NM_016204.4(GDF2):c.847G>A (p.Val283Met)SNV Uncertain significance 430360 rs138904328 10:48414021-48414021 10:47325341-47325341
7 GDF2 NM_016204.4(GDF2):c.286T>C (p.Tyr96His)SNV Uncertain significance 474671 rs142466901 10:48416408-48416408 10:47322954-47322954
8 GDF2 NM_016204.4(GDF2):c.1063G>A (p.Glu355Lys)SNV Uncertain significance 474670 rs1200646207 10:48413805-48413805 10:47325557-47325557
9 GDF2 NM_016204.4(GDF2):c.740G>T (p.Gly247Val)SNV Uncertain significance 474672 rs369219783 10:48414128-48414128 10:47325234-47325234
10 GDF2 NM_016204.4(GDF2):c.1023G>C (p.Trp341Cys)SNV Uncertain significance 474669 rs1555209063 10:48413845-48413845 10:47325517-47325517
11 GDF2 NC_000010.10:g.(?_48413558)_(48416713_?)deldeletion Uncertain significance 474668 10:48413558-48416713
12 GDF2 NM_016204.4(GDF2):c.76C>T (p.Gln26Ter)SNV Uncertain significance 541541 rs1555208696 10:48416618-48416618 10:47322744-47322744
13 GDF2 NM_016204.4(GDF2):c.89G>C (p.Arg30Pro)SNV Uncertain significance 541540 rs368827442 10:48416605-48416605 10:47322757-47322757
14 GDF2 NM_016204.4(GDF2):c.1267G>A (p.Val423Met)SNV Uncertain significance 541539 rs1358534877 10:48413601-48413601 10:47325761-47325761
15 GDF2 NM_016204.4(GDF2):c.637C>T (p.Arg213Cys)SNV Uncertain significance 568587 rs1555208917 10:48414231-48414231 10:47325131-47325131
16 GDF2 NM_016204.4(GDF2):c.619G>T (p.Val207Leu)SNV Uncertain significance 579429 10:48414249-48414249 10:47325113-47325113
17 GDF2 NM_016204.4(GDF2):c.64G>A (p.Gly22Arg)SNV Uncertain significance 652255 10:48416630-48416630 10:47322732-47322732
18 GDF2 NM_016204.4(GDF2):c.203G>A (p.Arg68His)SNV Uncertain significance 646500 10:48416491-48416491 10:47322871-47322871
19 GDF2 NM_016204.4(GDF2):c.949C>T (p.Arg317Trp)SNV Uncertain significance 646567 10:48413919-48413919 10:47325443-47325443
20 GDF2 NM_016204.4(GDF2):c.964G>A (p.Gly322Arg)SNV Uncertain significance 658226 10:48413904-48413904 10:47325458-47325458
21 GDF2 NM_016204.4(GDF2):c.1040C>T (p.Ala347Val)SNV Uncertain significance 646444 10:48413828-48413828 10:47325534-47325534
22 GDF2 NM_016204.4(GDF2):c.1051T>C (p.Tyr351His)SNV Uncertain significance 650693 10:48413817-48413817 10:47325545-47325545
23 GDF2 NM_016204.4(GDF2):c.1255G>A (p.Glu419Lys)SNV Uncertain significance 651637 10:48413613-48413613 10:47325749-47325749
24 GDF2 NM_016204.4(GDF2):c.1017C>T (p.Ile339=)SNV Benign/Likely benign 381779 rs148730910 10:48413851-48413851 10:47325511-47325511
25 GDF2 NM_016204.4(GDF2):c.911C>T (p.Thr304Met)SNV Benign 474673 rs75024165 10:48413957-48413957 10:47325405-47325405
26 GDF2 NM_016204.4(GDF2):c.346+10C>TSNV Benign 515941 rs117345807 10:48416338-48416338 10:47323024-47323024

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

73
# 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

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53 NINDS
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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