Details of Disease

General Information of Disease (ID: DIS6IJC1)

Disease Name Telangiectasia, hereditary hemorrhagic, type 1
Synonyms
HHT; telangiectasia, hereditary hemorrhagic, of RENDU, Osler, and WEBER; ORW disease; Osler Weber Rendu syndrome type 1; Osler-Rendu-Weber disease; ENG-related Hereditary hemorrhagic telangiectasia; telangiectasia, hereditary hemorrhagic, of Rendu, Osler, and Weber; hereditary hemorrhagic telangiectasia type 1; HHT1; telangiectasia, hereditary hemorrhagic, type 1
Disease Hierarchy
DISXTDNT: Hereditary hemorrhagic telangiectasia
DIS6IJC1: Telangiectasia, hereditary hemorrhagic, type 1
Disease Identifiers
MONDO ID
MONDO_0008535
MESH ID
D013683
UMLS CUI
C4551861
OMIM ID
187300
MedGen ID
1643786

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 6 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
RASA1 TTPNZ1F No Known Autosomal dominant [1]
ACVRL1 TTGYPTC moderate Genetic Variation [2]
ENG TTB30LE Strong Biomarker [3]
GDF2 TTAP4T1 Strong Autosomal dominant [4]
GDF2 TTAP4T1 Strong Biomarker [5]
ENG TTB30LE Definitive Autosomal dominant [6]
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⏷ Show the Full List of 6 DTT(s)
This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
RASA1 OTZJ3LP4 No Known Autosomal dominant [1]
GDF2 OTRB5L04 Strong Autosomal dominant [4]
ENG OTL2LSMI Definitive Autosomal dominant [6]
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References

1 VarRanker: rapid prioritization of sequence variations associated with human disease. BMC Bioinformatics. 2013;14 Suppl 13(Suppl 13):S1. doi: 10.1186/1471-2105-14-S13-S1. Epub 2013 Oct 1.
2 Hereditary hemorrhagic telangiectasia in Japanese patients.J Hum Genet. 2014 Jan;59(1):37-41. doi: 10.1038/jhg.2013.113. Epub 2013 Nov 7.
3 Mutations in the ENG, ACVRL1, and SMAD4 genes and clinical manifestations of hereditary haemorrhagic telangiectasia: experience from the Center for Osler's Disease, Uppsala University Hospital.Ups J Med Sci. 2018 Sep;123(3):153-157. doi: 10.1080/03009734.2018.1483452. Epub 2018 Sep 25.
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 Novel homozygous BMP9 nonsense mutation causes pulmonary arterial hypertension: a case report.BMC Pulm Med. 2016 Jan 22;16:17. doi: 10.1186/s12890-016-0183-7.
6 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.