Details of Disease | DrugMAP

General Information of Disease (ID: DISMA992)

Disease Name	Telangiectasia, hereditary hemorrhagic, type 5
Synonyms	HHT5; GDF2 hereditary hemorrhagic telangiectasia; hereditary hemorrhagic telangiectasia caused by mutation in GDF2; GDF2 related HHT-like syndrome; telangiectasia, hereditary hemorrhagic, type 5
Definition	Any hereditary hemorrhagic telangiectasia in which the cause of the disease is a mutation in the GDF2 gene.
Disease Hierarchy	DISXTDNT: Hereditary hemorrhagic telangiectasia DISMA992: Telangiectasia, hereditary hemorrhagic, type 5
Disease Identifiers	MONDO ID MONDO_0014217 UMLS CUI C3809710 OMIM ID 615506 MedGen ID 816040

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GDF2	TTAP4T1	Moderate	Autosomal dominant	[1]
GDF2	TTAP4T1	moderate	Biomarker	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GDF2	OTRB5L04	Moderate	Autosomal dominant	[1]
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References

1	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.
2	Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era.Front Genet. 2015 Jan 26;6:1. doi: 10.3389/fgene.2015.00001. eCollection 2015.