Details of Disease

General Information of Disease (ID: DISXTDNT)

Disease Name	Hereditary hemorrhagic telangiectasia
Synonyms	telangiectasia, hereditary Hemorrahagic, of Rendu, Osler; HHT; telangiectasia, hereditary hemorrhagic; Rendu-Osler-Weber disease; Osler-Weber-Rendu disease; Rendu-Osler disease; Osler hemorrhagic telangiectasia syndrome; hereditary hemorrhagic telangiectasia
Disease Class	LA90: Vascular system developmental anomaly
Definition	A disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting.
Disease Hierarchy	DIS8WCAO: Telangiectasis DISR6ZSG: Capillary malformation DIS3HIWD: Autosomal dominant disease DIS7GG31: Developmental defect during embryogenesis DISXTDNT: Hereditary hemorrhagic telangiectasia
ICD Code	ICD-11 ICD-11: LA90.00 ICD-10 ICD-10: I78, I78.0 Expand ICD-11 'LA90.00 Expand ICD-10 'I78; 'I78.0
Disease Identifiers	MONDO ID MONDO_0019180 MESH ID D013683 UMLS CUI C0039445 MedGen ID 52657 Orphanet ID 774 SNOMED CT ID 21877004

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 2 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Bevacizumab	DMSD1UN	Approved	Monoclonal antibody	[1]
Ranibizumab	DMSYPNW	Approved	Antibody	[2]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 8 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ACVRL1	TTGYPTC	Supportive	Autosomal dominant	[3]
ENG	TTB30LE	Supportive	Autosomal dominant	[3]
GDF2	TTAP4T1	Supportive	Autosomal dominant	[4]
ACVRL1	TTGYPTC	Strong	Genetic Variation	[5]
BMPR2	TTGKF90	Strong	Genetic Variation	[6]
GDF2	TTAP4T1	Strong	Biomarker	[7]
KCNK3	TTGR91N	Strong	Biomarker	[6]
PTPN14	TTNIR6C	Strong	Biomarker	[8]
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⏷ Show the Full List of 8 DTT(s)

This Disease Is Related to 6 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLPI	OTUNFUU8	Limited	Biomarker	[7]
ACVRL1	OT1HQR88	Supportive	Autosomal dominant	[3]
ENG	OTL2LSMI	Supportive	Autosomal dominant	[3]
GDF2	OTRB5L04	Supportive	Autosomal dominant	[4]
SMAD4	OTWQWCKG	Supportive	Autosomal dominant	[3]
COL5A1	OT24078H	Strong	Biomarker	[9]
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⏷ Show the Full List of 6 DOT(s)

References

1	Hereditary hemorrhagic telangiectasia: diagnosis and management from the hematologist's perspective. Haematologica. 2018 Sep;103(9):1433-1443.
2	URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 6779).
3	Hereditary Hemorrhagic Telangiectasia. 2000 Jun 26 [updated 2021 Nov 24]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.
4	BMP9 mutations cause a vascular-anomaly syndrome with phenotypic overlap with hereditary hemorrhagic telangiectasia. Am J Hum Genet. 2013 Sep 5;93(3):530-7. doi: 10.1016/j.ajhg.2013.07.004. Epub 2013 Aug 22.
5	Bone Morphogenetic Protein 9 Is a Paracrine Factor Controlling Liver Sinusoidal Endothelial Cell Fenestration and Protecting Against Hepatic Fibrosis.Hepatology. 2019 Oct;70(4):1392-1408. doi: 10.1002/hep.30655. Epub 2019 May 31.
6	Pulmonary artery hypertension in childhood: The transforming growth factor- superfamily-related genes.Pediatr Neonatol. 2018 Apr;59(2):112-119. doi: 10.1016/j.pedneo.2016.12.008. Epub 2017 Aug 12.
7	ALK1 Loss Results in Vascular Hyperplasia in Mice and Humans Through PI3K Activation.Arterioscler Thromb Vasc Biol. 2018 May;38(5):1216-1229. doi: 10.1161/ATVBAHA.118.310760. Epub 2018 Feb 15.
8	Mouse and human strategies identify PTPN14 as a modifier of angiogenesis and hereditary haemorrhagic telangiectasia.Nat Commun. 2012 Jan 10;3:616. doi: 10.1038/ncomms1633.
9	COL5A1: fine genetic mapping and exclusion as candidate gene in families with nail-patella syndrome, tuberous sclerosis 1, hereditary hemorrhagic telangiectasia, and Ehlers-Danlos Syndrome type II.Genomics. 1995 Feb 10;25(3):737-9. doi: 10.1016/0888-7543(95)80021-d.