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).

Genes related to Telangiectasia, Hereditary Hemorrhagic, Type 5; Hht5

GDF2

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.

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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 Panel GTR000556317 complete gene list INVS, FBLN5, ELN, DTNBP1, RPGR, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CCDC39, AP3B1, ALMS1, STAT3, CFTR, FOXF1, TINF2, TSC2, TSC1, PHOX2B, FLCN, SMAD4, ENG, SERPINA1, SLC7A7, RTEL1, SCNN1A, SCNN1G, SCNN1B, OFD1, EDN3, DKC1, BLOC1S6, TERC, ACVRL1, BMPR1B, DNAH8, ELMOD2, DNAH1, MCIDAS, TERT, SFTPD, TTC25, DNAJB13, GAS8, RSPH3, PARN, CENPF, CCDC151, CCNO, DOCK8, GDF2, SPAG1, CCDC65, CFAP298, DNAAF4, RSPH1, ARMC4, ZMYND10, KCNK3, CAV1, SMAD9, DRC1, CSF2RA, CCDC114, LRRC6, DNAAF5, CCDC103, DNAAF3, EFEMP2, CSF2RB, DNAL1, CCDC40, MUC5B, DNAAF1, LTBP4, RSPH9, RSPH4A, DNAAF2, DNAI2, KCNA5, DNAH11, NKX2-1, ABCA3, SFTPC, NME8, DNAH5, BMPR2, SFTPB, DNAI1, SFTPA2, SFTPA1 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 Panel GTR000552465 complete gene list PTEN, GJC2, SMAD4, GATA2, ENG, KRIT1, CCM2, PDCD10, FOXC2, RASA1, SOX18, CCBE1, ACVRL1, GDF2, GLMN, VEGFC, STAMBP, KIF11, PTPN14, TEK, FLT4 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 Panel GTR000529123 complete gene list PTEN, SMAD4, ENG, KRIT1, CCM2, PDCD10, RASA1, SOX18, ACVRL1, GDF2, KCNK3, CAV1, BMPR2, GLMN, TEK, PIK3CA, GNAQ, KDR, MAP3K3, DOCK6, ANTXR1 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 Panel GTR000553478 complete gene list INVS, JAG1, RPGR, CCDC39, CFTR, FOXF1, SMAD4, GATA2, ENG, SLC7A7, FLNA, OFD1, RASA1, DKC1, MARS, TERC, ACVRL1, BMPR1B, DNAH8, DNAH1, MCIDAS, TERT, GAS8, RSPH3, CCDC151, CCNO, GDF2, SPAG1, CCDC65, DNAAF4, RSPH1, ARMC4, ZMYND10, KCNK3, CAV1, SMAD9, DRC1, CSF2RA, CCDC114, LRRC6, DNAAF5, CCDC103, DNAAF3, CSF2RB, DNAL1, CCDC40, DNAAF1, RSPH9, RSPH4A, DNAAF2, DNAI2, KCNA5, DNAH11, NKX2-1, ABCA3, NME8, DNAH5, BMPR2, SFTPB, DNAI1, NOTCH2, EIF2AK4, COPA, DNAH6, HYDIN 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 Panel GTR000553479 complete gene list INVS, JAG1, RPGR, CCDC39, CFTR, FOXF1, SMAD4, GATA2, ENG, SLC7A7, FLNA, OFD1, RASA1, DKC1, MARS, TERC, ACVRL1, BMPR1B, DNAH8, DNAH1, MCIDAS, TERT, GAS8, RSPH3, CCDC151, CCNO, GDF2, SPAG1, CCDC65, DNAAF4, RSPH1, ARMC4, KCNK3, CAV1, SMAD9, DRC1, CSF2RA, CCDC114, LRRC6, DNAAF5, CCDC103, DNAAF3, CSF2RB, DNAL1, CCDC40, DNAAF1, RSPH9, RSPH4A, DNAAF2, DNAI2, KCNA5, DNAH11, NKX2-1, ABCA3, NME8, DNAH5, BMPR2, SFTPB, DNAI1, NOTCH2, EIF2AK4, COPA, DNAH6, HYDIN 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 Panel GTR000553502 complete gene list INVS, JAG1, RPGR, CCDC39, CFTR, FOXF1, SMAD4, GATA2, ENG, SLC7A7, FLNA, OFD1, RASA1, DKC1, MARS, TERC, ACVRL1, BMPR1B, DNAH8, DNAH1, MCIDAS, TERT, GAS8, RSPH3, CCDC151, CCNO, GDF2, SPAG1, CCDC65, DNAAF4, RSPH1, ARMC4, KCNK3, CAV1, SMAD9, DRC1, CSF2RA, CCDC114, LRRC6, DNAAF5, CCDC103, DNAAF3, CSF2RB, DNAL1, CCDC40, DNAAF1, RSPH9, RSPH4A, DNAAF2, DNAI2, KCNA5, DNAH11, NKX2-1, ABCA3, NME8, DNAH5, BMPR2, SFTPB, DNAI1, NOTCH2, EIF2AK4, COPA, DNAH6, HYDIN 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 Panel GTR000521465 complete gene list HFE, TTR, AARS2, ACAD9, ACADM, AGL, ACADVL, ATPAF2, GAA, COL1A1, COL1A2, COL3A1, PSEN1, ELN, EYA4, GNPTAB, GLB1, PITX2, JAG1, DSP, DLD, SLC25A4, CRYAB, RAF1, FBN1, MTO1, MRPL3, LIAS, AGK, TMEM70, FAH, MRPS22, TSFM, DNAJC19, GFM1, COQ2, PDHA1, TAZ, PHKA1, COX15, SURF1, GUSB, MLYCD, CBS, COX6B1, SLC22A5, PMM2, ALMS1, COL5A1, COL5A2, DOLK, BRAF, DMD, GLA, HRAS, KRAS, LDLR, MAP2K1, NRAS, PLOD1, PTPN11, SHOC2, SOS1, MAP2K2, CBL, SMAD4, ENG, FKTN, SGCA, SGCB, CAPN3, LMNA, PSEN2, NOTCH3, FKRP, CAV3, TTN, DES, MYH7, FLNC, MYOT, LDB3, BSCL2, BAG3, FHL1, MYBPC3, ACTA1, TMEM43, EMD, TCAP, SGCD, KCNJ2, KCND3, LAMA2, KCNH2, SCN1B, HCN4, SCN5A, FLNA, CACNA2D1, TBX1, CACNA1D, KCNE1, KCNQ1, CACNA1C, LAMP2, SPRED1, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11, TRPM4, SLMAP, KCNJ8, ABCC9, SCN2B, SCN3B, KCNE3, CACNB2, GPD1L, PKP2, ANK2, RYR2, CALM1, CALM2, TRDN, KCNE2, KCNJ5, SNTA1, CASQ2, AKAP9, SCN4B, ACVRL1, BMPR1B, GDF2, KCNK3, CAV1, SMAD9, KCNA5, BMPR2, PDLIM3, NEBL, ACTC1, MYLK2, TGFB3, LAMA4, PRDM16, NKX2-5, ANKRD1, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, DSG2, JUP, MYPN, RANGRF, TPM1, TNNT2, GATAD1, JPH2, MYOZ2, RBM20, ACTN2, CSRP3, DSC2, MYL2, MYL3, DTNA, VCL, PRKG1, TBX5, GJA1, CTF1, FHL2, TXNRD2, TMPO, GATA4, CRELD1, CETP, PCSK9, APOB, APOA5, GATA6, NPPA, GJA5, AGPAT2, ANK3, OBSL1, SCN10A, CTNNA3, KCNE5, ADAMTSL4, APOC3, CAVIN4, TBX20, MIB1, CALR3, LRP6, KLF10, TRIM63, SMAD1, FOXD4, FHOD3 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 Panel GTR000530651 complete gene list HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATP7A, ATPAF2, B4GALT7, GAA, HNF1A, NEUROD1, PPARG, COL1A1, COL1A2, COL3A1, ELAC2, PSEN1, HNF1B, ELN, EYA4, CPT2, WFS1, GNPTAB, GLB1, FOXC1, PITX2, JAG1, NPHP4, PCDH15, DSP, DLD, SLC25A4, GCK, FOXRED1, CRYAB, RAF1, OPA3, FBN1, MTO1, MRPL3, LIAS, GPD1, AGK, DNM1L, TMEM70, FAH, IDH2, CAVIN1, SLC39A13, MRPS22, SLC25A3, PNPLA2, TSFM, DNAJC19, GFM1, MEF2A, COQ2, SCO2, PDHA1, TAZ, PHKA1, COX15, SURF1, GUSB, MLYCD, CBS, PYGM, FXN, COX6B1, SLC22A5, PMM2, ALMS1, ZFHX3, COL5A1, COL5A2, SDHA, DOLK, BRAF, CHD7, CREBBP, DMD, FOXF1, GLA, HRAS, KRAS, LDLR, LEP, LIPA, MAP2K1, NRAS, PLOD1, PTPN11, SHOC2, SOS1, SOS2, RIT1, MAP2K2, CBL, BMPR1A, SMAD4, ENG, ADAMTS2, FKTN, MTTP, SGCA, SGCB, CAPN3, LMNA, PSEN2, APOE, NOTCH3, FKRP, CAV3, NF1, CEL, KCNJ11, INS, PDX1, HNF4A, TTN, DES, MYH7, FLNC, ANO5, MYOT, LDB3, BSCL2, BAG3, FHL1, RYR1, MYBPC3, ACTA1, SYNE1, TMEM43, SYNE2, EMD, TCAP, SGCD, KCNJ2, KCND3, LAMA2, KCNH2, SCN1B, HCN4, SCN5A, FLNA, KMT2D, CACNA2D1, KANSL1, TBX1, CACNA1D, KCNE1, KCNQ1, MED12, FOXP1, EHMT1, CACNA1C, CTNNB1, LZTR1, RASA1, FOXP3, LAMP2, UPF3B, ZDHHC9, SPRED1, RASA2, RRAS, A2ML1, ABCB1, NODAL, FOXH1, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11, FKBP14, CHST14, ACVR1, TRPM4, SLMAP, KCNJ8, ABCC9, SCN2B, SCN3B, KCNE3, CACNB2, GPD1L, PKP2, ANK2, RYR2, CALM1, CALM2, TRDN, KCNE2, KCNJ5, SNTA1, CASQ2, AKAP9, SCN4B, ACVRL1, BMPR1B, GDF2, KCNK3, CAV1, SMAD9, EFEMP2, KCNA5, BMPR2, PDLIM3, ILK, NEBL, ACTC1, MYLK2, TGFB3, LAMA4, PRDM16, NKX2-5, ANKRD1, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, DSG2, JUP, MYPN, RANGRF, TPM1, TNNT2, GATAD1, JPH2, MYOZ2, RBM20, ACTN2, CSRP3, DSC2, MYL2, MYL3, DTNA, AMPD1, TOR1AIP1, SPEG, VCL, ZMPSTE24, PRKG1, MFAP5, NOS1AP, SALL4, TBX5, EP300, GJA1, FHL2, B3GAT3, ABCG5, ABCG8, CYP2D6, OBSCN, TXNRD2, TMPO, ZIC3, GDF1, GATA4, EVC, IER3IP1, NPC1L1, CITED2, LEFTY2, CRELD1, ACVR2B, CETP, SCARB1, APOA1, PCSK9, LDLRAP1, APOB, APOA5, LPL, LMF1, APOC2, GPIHBP1, ANGPTL3, ABCG1, LCAT, ABCA1, SLC2A2, AKT2, RFX6, PAX4, KLF11, BLK, GLIS3, NEUROG3, PTF1A, GATA6, EIF2AK3, PDGFRA, INSR, CFC1, XK, TDGF1, COL7A1, NPPA, GJA5, NOTCH2, TBC1D4, CIDEC, PLIN1, AGPAT2, ZFPM2, ANK3, OBSL1, FGF12, COA5, SCN10A, CTNNA3, KCNE5, ADAMTSL4, GATA5, APOC3, LIPC, PLTP, CHRM2, CAVIN4, SLCO1B1, EIF2AK4, TBX20, MIB1, CALR3, ASPH, CALM3, MYLIP, SAR1B, TFAP2B, SMAD6, TAB2, TNNI3K, CYP3A4, INSIG2, LRP6, PKP4, KLF10, TRIM63, COA6, MED13L, KCND2, MRPL44, NKX2-6, CYP3A5, MCTP2, IRX4, SMAD1, FOXD4, FHOD3, PERP, PPP1R13L, KCNK17, IRX3, SLC22A8, LPA, MYOM1, PPARA, NNT, SLC25A40, HAND2, GREM2, ISL1, TOPBP1, TRIB1, BMP10, CH25H 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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