Telangiectasia, Hereditary Hemorrhagic, Type 2; Hht2

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Genes related to Telangiectasia, Hereditary Hemorrhagic, Type 2; Hht2

ACVRL1

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Telangiectasia, Hereditary Hemorrhagic, Type 2; Hht2

Seizures
Anemia
Hypertension
Dyspnea
Cirrhosis
Migraine
Gastrointestinal hemorrhage
Cyanosis
Pulmonary arterial hypertension
Epistaxis

And another 28 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— The onset for some of the known clinical features related to this disease may vary, including childhood onset .

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Telangiectasia, Hereditary Hemorrhagic, Type 2; Hht2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Comprehensive Pulmonary Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). RPGR, SCNN1A, SCNN1B, SCNN1G, BMPR1B, BMPR2, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, SLC7A7, SPAG1, STAT3, TERC, TERT, TINF2, NKX2-1, TSC1, TSC2 , (...) View the complete list with 73 more genes Panel complete gene list RPGR, SCNN1A, SCNN1B, SCNN1G, BMPR1B, BMPR2, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, SLC7A7, SPAG1, STAT3, TERC, TERT, TINF2, NKX2-1, TSC1, TSC2, RSPH1, CFAP298, CAV1, HPS3, HPS4, RTEL1, NME8, LRRC6, HPS5, DTNBP1, ACVRL1, INVS, CENPF, CCNO, DNAI2, HPS6, CFTR, DOCK8, ZMYND10, DNAAF2, BLOC1S3, RSPH3, RSPH9, DNAAF4, RSPH4A, DNAL1, DRC1, CSF2RA, CSF2RB, CCDC39, TTC25, ARMC4, OFD1, DNAAF5, CCDC40, CCDC114, FLCN, ELMOD2, CCDC151, DKC1, DNAH1, DNAH11, DNAH5, DNAH8, DNAI1, CCDC65, DNAAF3, DNAAF1, DNAJB13, EDN3, EFEMP2, CCDC103, ABCA3, ELN, ENG, FBLN5, FOXF1, MCIDAS, GAS8, GDF2, ALMS1, HPS1, AP3B1, KCNA5, KCNK3, LTBP4, SMAD4, SMAD9, MUC5B, BLOC1S6, PARN, SERPINA1, PHOX2B Specificity 2 % Genes 100 %
Arterial Hypertension Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). BMPR1B, BMPR2, CAV1, ACVRL1, ABCA3, ENG, GDF2, KCNA5, KCNK3, SMAD4, SMAD9 Specificity 10 % Genes 100 %
NGS Vascular Disorders Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). SOX18, TEK, VEGFC, GLMN, KRIT1, STAMBP, GJC2, ACVRL1, CCM2, CCBE1, ENG, FLT4, FOXC2, GATA2, GDF2, KIF11, SMAD4, PDCD10, PTEN, PTPN14 , (...) View the complete list with 1 more genes Panel complete gene list SOX18, TEK, VEGFC, GLMN, KRIT1, STAMBP, GJC2, ACVRL1, CCM2, CCBE1, ENG, FLT4, FOXC2, GATA2, GDF2, KIF11, SMAD4, PDCD10, PTEN, PTPN14, RASA1 Specificity 5 % Genes 100 %
Hereditary hemorrhagic telangiectasia - ACVRL1/ALK1 Sequencing. By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado (United States). ACVRL1 Specificity 100 % Genes 100 %
Test for ACVRL1-Related Hereditary Hemorrhagic Telangiectasia. By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands). ACVRL1 Specificity 100 % Genes 100 %
Hereditary Hemorrhagic Telangiectasia. By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine (United States). ACVRL1, ENG, SMAD4 Specificity 34 % Genes 100 %
Pulmonary Arterial Hypertension Panel. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). BMPR2, CAV1, ACVRL1, ABCA3, ENG, GDF2, KCNA5, KCNK3, SMAD4, SMAD9 Specificity 10 % Genes 100 %
Hereditary Hemorrhagic Telangiectasia Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago (United States). ACVRL1, ENG, GDF2, SMAD4, RASA1 Specificity 20 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

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