Details of Disease

General Information of Disease (ID: DISOYV2U)

Disease Name Telangiectasia, hereditary hemorrhagic, type 2
Synonyms
ORW2; Osler Weber Rendu syndrome type 2; hereditary hemorrhagic telangiectasia type 2; pulmonary arterial hypertension, hereditary hemorrhagic telangiectasia-related; HHT2; telangiectasia hereditary hemorrhagic type 2; ACVRL1 hereditary hemorrhagic telangiectasia; hereditary hemorrhagic telangiectasia caused by mutation in ACVRL1; telangiectasia, hereditary hemorrhagic, type 2
Definition Any hereditary hemorrhagic telangiectasia in which the cause of the disease is a mutation in the ACVRL1 gene.
Disease Hierarchy
DISXTDNT: Hereditary hemorrhagic telangiectasia
DISOYV2U: Telangiectasia, hereditary hemorrhagic, type 2
Disease Identifiers
MONDO ID
MONDO_0010880
MESH ID
C537139
UMLS CUI
C1838163
OMIM ID
600376
MedGen ID
324960

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ENG TTB30LE Strong Biomarker [1]
ACVRL1 TTGYPTC Definitive Autosomal dominant [2]
ACVRL1 TTGYPTC Definitive Biomarker [3]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SLPI OTUNFUU8 Strong Genetic Variation [4]
ACVRL1 OT1HQR88 Definitive Autosomal dominant [2]
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References

1 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.
2 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.
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 Retention in the endoplasmic reticulum is the underlying mechanism of some hereditary haemorrhagic telangiectasia type 2 ALK1 missense mutations.Mol Cell Biochem. 2013 Jan;373(1-2):247-57. doi: 10.1007/s11010-012-1496-3. Epub 2012 Nov 4.