MCID: TLN008
MIFTS: 22

Telangiectasia, Hereditary Hemorrhagic, Type 5

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 5

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

Name: Telangiectasia, Hereditary Hemorrhagic, Type 5 57 29 6 73
Hht5 57 75
Telangiectasia, Hemorrhagic, Hereditary, Type 5 40
Telangiectasia, Hereditary Hemorrhagic, 5 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
telangiectasia, hereditary hemorrhagic, type 5:
Inheritance autosomal dominant inheritance


Classifications:



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)

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

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Face:
cutaneous telangiectases

Head And Neck Mouth:
cutaneous telangiectases

Chest External Features:
cutaneous telangiectases

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

Head And Neck Nose:
spontaneous, recurrent epistaxis

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

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

Skin Nails Hair Skin Histology:
telangiectases


Clinical features from OMIM:

615506

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

32
# Description HPO Frequency HPO Source Accession
1 portal hypertension 32 occasional (7.5%) HP:0001409
2 elevated hepatic transaminases 32 occasional (7.5%) HP:0002910
3 telangiectasia 32 HP:0001009
4 spontaneous, recurrent epistaxis 32 HP:0004406

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:

41
Liver, Lung, Brain, Skin

Publications for Telangiectasia, Hereditary Hemorrhagic, Type 5

Variations for Telangiectasia, Hereditary Hemorrhagic, Type 5

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

75
# 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

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

6
(show all 31)
# Gene Variation Type Significance SNP ID Assembly Location
1 GDF2 NM_016204.3(GDF2): c.254C> T (p.Pro85Leu) single nucleotide variant Pathogenic rs199804679 GRCh37 Chromosome 10, 48416440: 48416440
2 GDF2 NM_016204.3(GDF2): c.254C> T (p.Pro85Leu) single nucleotide variant Pathogenic rs199804679 GRCh38 Chromosome 10, 47322922: 47322922
3 GDF2 NM_016204.3(GDF2): c.203G> T (p.Arg68Leu) single nucleotide variant Pathogenic rs200330818 GRCh37 Chromosome 10, 48416491: 48416491
4 GDF2 NM_016204.3(GDF2): c.203G> T (p.Arg68Leu) single nucleotide variant Pathogenic rs200330818 GRCh38 Chromosome 10, 47322871: 47322871
5 GDF2 NM_016204.3(GDF2): c.997C> T (p.Arg333Trp) single nucleotide variant Pathogenic rs35129734 GRCh37 Chromosome 10, 48413871: 48413871
6 GDF2 NM_016204.3(GDF2): c.997C> T (p.Arg333Trp) single nucleotide variant Pathogenic rs35129734 GRCh38 Chromosome 10, 47325491: 47325491
7 GDF2 NM_016204.3(GDF2): c.1290G> A (p.Ter430=) single nucleotide variant Likely benign rs139568056 GRCh37 Chromosome 10, 48413578: 48413578
8 GDF2 NM_016204.3(GDF2): c.1290G> A (p.Ter430=) single nucleotide variant Likely benign rs139568056 GRCh38 Chromosome 10, 47325784: 47325784
9 GDF2 NM_016204.3(GDF2): c.1017C> T (p.Ile339=) single nucleotide variant Benign/Likely benign rs148730910 GRCh38 Chromosome 10, 47325511: 47325511
10 GDF2 NM_016204.3(GDF2): c.1017C> T (p.Ile339=) single nucleotide variant Benign/Likely benign rs148730910 GRCh37 Chromosome 10, 48413851: 48413851
11 GDF2 NM_016204.3(GDF2): c.847G> A (p.Val283Met) single nucleotide variant Uncertain significance rs138904328 GRCh37 Chromosome 10, 48414021: 48414021
12 GDF2 NM_016204.3(GDF2): c.847G> A (p.Val283Met) single nucleotide variant Uncertain significance rs138904328 GRCh38 Chromosome 10, 47325341: 47325341
13 GDF2 NM_016204.3(GDF2): c.286T> C (p.Tyr96His) single nucleotide variant Uncertain significance rs142466901 GRCh38 Chromosome 10, 47322954: 47322954
14 GDF2 NM_016204.3(GDF2): c.286T> C (p.Tyr96His) single nucleotide variant Uncertain significance rs142466901 GRCh37 Chromosome 10, 48416408: 48416408
15 GDF2 NM_016204.3(GDF2): c.1063G> A (p.Glu355Lys) single nucleotide variant Uncertain significance GRCh38 Chromosome 10, 47325557: 47325557
16 GDF2 NM_016204.3(GDF2): c.1063G> A (p.Glu355Lys) single nucleotide variant Uncertain significance GRCh37 Chromosome 10, 48413805: 48413805
17 GDF2 NM_016204.3(GDF2): c.740G> T (p.Gly247Val) single nucleotide variant Uncertain significance rs369219783 GRCh37 Chromosome 10, 48414128: 48414128
18 GDF2 NM_016204.3(GDF2): c.740G> T (p.Gly247Val) single nucleotide variant Uncertain significance rs369219783 GRCh38 Chromosome 10, 47325234: 47325234
19 GDF2 NM_016204.3(GDF2): c.1023G> C (p.Trp341Cys) single nucleotide variant Uncertain significance GRCh37 Chromosome 10, 48413845: 48413845
20 GDF2 NM_016204.3(GDF2): c.1023G> C (p.Trp341Cys) single nucleotide variant Uncertain significance GRCh38 Chromosome 10, 47325517: 47325517
21 GDF2 NC_000010.10: g.(?_48413558)_(48416713_?)del deletion Uncertain significance GRCh37 Chromosome 10, 48413558: 48416713
22 GDF2 NM_016204.3(GDF2): c.911C> T (p.Thr304Met) single nucleotide variant Benign rs75024165 GRCh37 Chromosome 10, 48413957: 48413957
23 GDF2 NM_016204.3(GDF2): c.911C> T (p.Thr304Met) single nucleotide variant Benign rs75024165 GRCh38 Chromosome 10, 47325405: 47325405
24 GDF2 NM_016204.3(GDF2): c.346+10C> T single nucleotide variant Benign rs117345807 GRCh37 Chromosome 10, 48416338: 48416338
25 GDF2 NM_016204.3(GDF2): c.346+10C> T single nucleotide variant Benign rs117345807 GRCh38 Chromosome 10, 47323024: 47323024
26 GDF2 NM_016204.3(GDF2): c.76C> T (p.Gln26Ter) single nucleotide variant Uncertain significance GRCh37 Chromosome 10, 48416618: 48416618
27 GDF2 NM_016204.3(GDF2): c.76C> T (p.Gln26Ter) single nucleotide variant Uncertain significance GRCh38 Chromosome 10, 47322744: 47322744
28 GDF2 NM_016204.3(GDF2): c.89G> C (p.Arg30Pro) single nucleotide variant Uncertain significance rs368827442 GRCh38 Chromosome 10, 47322757: 47322757
29 GDF2 NM_016204.3(GDF2): c.89G> C (p.Arg30Pro) single nucleotide variant Uncertain significance rs368827442 GRCh37 Chromosome 10, 48416605: 48416605
30 GDF2 NM_016204.3(GDF2): c.1267G> A (p.Val423Met) single nucleotide variant Uncertain significance GRCh37 Chromosome 10, 48413601: 48413601
31 GDF2 NM_016204.3(GDF2): c.1267G> A (p.Val423Met) single nucleotide variant Uncertain significance GRCh38 Chromosome 10, 47325761: 47325761

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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