Telangiectasia, Hereditary Hemorrhagic, Type 5; Hht5

Description

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).

Clinical Features

Phenotypes and symptoms related to Telangiectasia, Hereditary Hemorrhagic, Type 5; Hht5

  • Hypertension
  • Elevated hepatic transaminase
  • Abnormality of the liver
  • Stroke
  • Epistaxis
  • Telangiectasia
  • Portal hypertension
  • Arteriovenous malformation
  • Venous malformation
  • Spontaneous, recurrent epistaxis

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Telangiectasia, Hereditary Hemorrhagic, Type 5; Hht5 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Comprehensive Pulmonary Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

INVS, FBLN5, ELN, DTNBP1, RPGR, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CCDC39, AP3B1, ALMS1, STAT3, CFTR, FOXF1, TINF2, TSC2, TSC1 , (...)

View the complete list with 73 more genes
Specificity
2 %
Genes
100 %
Arterial Hypertension Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

SMAD4, ENG, ACVRL1, BMPR1B, GDF2, KCNK3, CAV1, SMAD9, KCNA5, ABCA3, BMPR2
Specificity
10 %
Genes
100 %
NGS Vascular Disorders Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

PTEN, GJC2, SMAD4, GATA2, ENG, KRIT1, CCM2, PDCD10, FOXC2, RASA1, SOX18, CCBE1, ACVRL1, GDF2, GLMN, VEGFC, STAMBP, KIF11, PTPN14, TEK , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Pulmonary Arterial Hypertension Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

SMAD4, ENG, ACVRL1, GDF2, KCNK3, CAV1, SMAD9, KCNA5, ABCA3, BMPR2
Specificity
10 %
Genes
100 %
Hereditary Hemorrhagic Telangiectasia Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

SMAD4, ENG, RASA1, ACVRL1, GDF2
Specificity
20 %
Genes
100 %
Hereditary Hemorrhagic Telangiectasia (HHT) Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

SMAD4, ENG, RASA1, ACVRL1, GDF2
Specificity
20 %
Genes
100 %
Telangiectasia Syndrome (BMP9/GDF2) Sequencing.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

GDF2
Specificity
100 %
Genes
100 %
Hereditary Hemorrhagic Telangiectasia (HHT) Panel, Sequencing Deletion/Duplication, 5 Genes.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

SMAD4, ENG, RASA1, ACVRL1, GDF2
Specificity
20 %
Genes
100 %
Vascular Malformations Panel, Sequencing and Deletion/Duplication, 14 Genes.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

PTEN, SMAD4, ENG, KRIT1, CCM2, PDCD10, RASA1, ACVRL1, GDF2, KCNK3, CAV1, BMPR2, GLMN, TEK
Specificity
8 %
Genes
100 %
HHTNext.

By Ambry Genetics in United States.

SMAD4, ENG, RASA1, ACVRL1, GDF2
Specificity
20 %
Genes
100 %
Vascular Malformations NGS Multi-Gene Panel (21 Genes).

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

PTEN, SMAD4, ENG, KRIT1, CCM2, PDCD10, RASA1, SOX18, ACVRL1, GDF2, KCNK3, CAV1, BMPR2, GLMN, TEK, PIK3CA, GNAQ, KDR, MAP3K3, DOCK6 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Pulmonary Hypertension Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

FOXF1, SMAD4, ENG, RASA1, ACVRL1, BMPR1B, GDF2, KCNK3, CAV1, SMAD9, KCNA5, BMPR2, EIF2AK4
Specificity
8 %
Genes
100 %
Pulmonary Hypertension Seq Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

FOXF1, SMAD4, ENG, RASA1, ACVRL1, BMPR1B, GDF2, KCNK3, CAV1, SMAD9, KCNA5, BMPR2, EIF2AK4
Specificity
8 %
Genes
100 %
Pulmonary Hypertension Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

FOXF1, SMAD4, ENG, RASA1, ACVRL1, BMPR1B, GDF2, KCNK3, CAV1, SMAD9, KCNA5, BMPR2, EIF2AK4
Specificity
8 %
Genes
100 %
Comprehensive Pulmonary-Vascular Seq Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

INVS, JAG1, RPGR, CCDC39, CFTR, FOXF1, SMAD4, GATA2, ENG, SLC7A7, FLNA, OFD1, RASA1, DKC1, MARS, TERC, ACVRL1, BMPR1B, DNAH8, DNAH1 , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
100 %
Comprehensive Pulmonary-Vascular Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

INVS, JAG1, RPGR, CCDC39, CFTR, FOXF1, SMAD4, GATA2, ENG, SLC7A7, FLNA, OFD1, RASA1, DKC1, MARS, TERC, ACVRL1, BMPR1B, DNAH8, DNAH1 , (...)

View the complete list with 44 more genes
Specificity
2 %
Genes
100 %
Comprehensive Pulmonary-Vascular Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

INVS, JAG1, RPGR, CCDC39, CFTR, FOXF1, SMAD4, GATA2, ENG, SLC7A7, FLNA, OFD1, RASA1, DKC1, MARS, TERC, ACVRL1, BMPR1B, DNAH8, DNAH1 , (...)

View the complete list with 44 more genes
Specificity
2 %
Genes
100 %
Hereditary hemorrhagic telangiectasia type 5 (sequence analysis of GDF2 gene).

By CGC Genetics in Portugal.

GDF2
Specificity
100 %
Genes
100 %
Hereditary hemorrhagic telangiectasia (NGS panel for 4 genes).

By CGC Genetics in Portugal.

SMAD4, ENG, ACVRL1, GDF2
Specificity
25 %
Genes
100 %
Hereditary hemorrhagic telangiectasia (NGS panel for 4 genes).

By CGC Genetics in Portugal.

SMAD4, ENG, ACVRL1, GDF2
Specificity
25 %
Genes
100 %
Hereditary Hemorrhagic telangiectasia Comprehensive panel.

By Connective Tissue Gene Tests in United States.

SMAD4, ENG, RASA1, ACVRL1, GDF2
Specificity
20 %
Genes
100 %
Hereditary Hemorrhagic telangiectasia Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

SMAD4, ENG, RASA1, ACVRL1, GDF2
Specificity
20 %
Genes
100 %
Hereditary Hemorrhagic telangiectasia NGS panel.

By Connective Tissue Gene Tests in United States.

SMAD4, ENG, RASA1, ACVRL1, GDF2
Specificity
20 %
Genes
100 %
Vascular malformations Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

PTEN, FOXF1, SMAD4, GATA2, ENG, KRIT1, CCM2, PDCD10, RASA1, ACVRL1, GDF2, KCNK3, CAV1, SMAD9, BMPR2, GLMN, TEK, EIF2AK4, ELMO2
Specificity
6 %
Genes
100 %
Vascular malformations NGS panel.

By Connective Tissue Gene Tests in United States.

PTEN, FOXF1, SMAD4, GATA2, ENG, KRIT1, CCM2, PDCD10, RASA1, ACVRL1, GDF2, KCNK3, CAV1, SMAD9, BMPR2, GLMN, TEK, EIF2AK4, ELMO2
Specificity
6 %
Genes
100 %
Vascular malformations Comprehensive panel.

By Connective Tissue Gene Tests in United States.

PTEN, FOXF1, SMAD4, GATA2, ENG, KRIT1, CCM2, PDCD10, RASA1, ACVRL1, GDF2, KCNK3, CAV1, SMAD9, BMPR2, GLMN, TEK, EIF2AK4, ELMO2
Specificity
6 %
Genes
100 %
GDF2.

By MGZ Medical Genetics Center in Germany.

GDF2
Specificity
100 %
Genes
100 %
Telangiectasia hereditary hemorrhagic type 5.

By Centogene AG - the Rare Disease Company in Germany.

GDF2
Specificity
100 %
Genes
100 %
Hereditary hemorrhagic telangiectasia panel.

By Centogene AG - the Rare Disease Company in Germany.

SMAD4, ENG, RASA1, ACVRL1, GDF2, PTPN14, ADAM17
Specificity
15 %
Genes
100 %
Vascular and lymphatic disorders Panel.

By CeGaT GmbH in Germany.

GJC2, GATA2, ENG, KRIT1, CCM2, PDCD10, TREX1, FOXC2, FAT4, RASA1, SOX18, CCBE1, ACVRL1, GDF2, VEGFC, KIF11, FLT4, SERPING1
Specificity
6 %
Genes
100 %
Hereditary Haemorrhagic Telangiectasia Panel.

By Health in Code in Spain.

SMAD4, ENG, ACVRL1, GDF2, BMPR2, SMAD1
Specificity
17 %
Genes
100 %
Inherited Cardiovascular Diseases and Sudden Death Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, ACADM, AGL, ACADVL, ATPAF2, GAA, COL1A1, COL1A2, COL3A1, PSEN1, ELN, EYA4, GNPTAB, GLB1, PITX2, JAG1, DSP , (...)

View the complete list with 193 more genes
Specificity
1 %
Genes
100 %
Pulmonary Hypertension Panel.

By Health in Code in Spain.

SMAD4, ENG, NOTCH3, ACVRL1, BMPR1B, GDF2, KCNK3, CAV1, SMAD9, KCNA5, BMPR2, SMAD1
Specificity
9 %
Genes
100 %
Cardiovascular Diseases_General Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATP7A, ATPAF2, B4GALT7, GAA, HNF1A, NEUROD1, PPARG, COL1A1, COL1A2, COL3A1, ELAC2, PSEN1, HNF1B , (...)

View the complete list with 360 more genes
Specificity
1 %
Genes
100 %
Hereditary hemorrhagic telangiectasia Panel.

By Health in Code in Spain.

BMPR1A, SMAD4, ENG, RASA1, ACVRL1, GDF2, BMPR2, SMAD1, BMP10
Specificity
12 %
Genes
100 %
Pulmonary hypertension Panel.

By Health in Code in Spain.

FOXF1, SMAD4, ENG, NOTCH3, RASA1, ACVRL1, BMPR1B, GDF2, KCNK3, CAV1, SMAD9, KCNA5, BMPR2, EIF2AK4, SMAD1, TOPBP1
Specificity
7 %
Genes
100 %
Rendu-Osler-Weber disease (ACVRL1, ENG, SMAD4, GDF2).

By Center for Human Genetics Cliniques Universitaires Saint Luc in Belgium.

SMAD4, ENG, ACVRL1, GDF2
Specificity
25 %
Genes
100 %
Hereditary hemorrhagic telangiectasia.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

SMAD4, ENG, ACVRL1, GDF2
Specificity
25 %
Genes
100 %
Pulmonary Arterial Hypertension: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SMAD4, ENG, RASA1, ACVRL1, GDF2, CAV1, SMAD9, BMPR2
Specificity
13 %
Genes
100 %
Hereditary Hemorrhagic Telangiectasia: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SMAD4, ENG, RASA1, ACVRL1, GDF2
Specificity
20 %
Genes
100 %
Hereditary Hemorrhagic Telangiectasia: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SMAD4, ENG, RASA1, ACVRL1, GDF2
Specificity
20 %
Genes
100 %
GDF2.

By Fulgent Genetics Fulgent Genetics in United States.

GDF2
Specificity
100 %
Genes
100 %
Hereditary hemorrhagic telangiectasia (HHT).

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center in United States.

SMAD4, ENG, KRIT1, CCM2, RASA1, ACVRL1, GDF2, CAV1, BMPR2
Specificity
12 %
Genes
100 %
HEREDITARY HEMORRHAGIC TELANGIECTASIA (RENDU-OSLER-WEBER SYNDROME).

By Laboratorio de Genetica Clinica SL in Spain.

SMAD4, ENG, ACVRL1, GDF2
Specificity
25 %
Genes
100 %
Hereditary Hemorrhagic Telangiectasia Type 5, Sequencing GDF2 Gene.

By Reference Laboratory Genetics in Spain.

GDF2
Specificity
100 %
Genes
100 %

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