Details of Disease

General Information of Disease (ID: DIS8WCAO)

Disease Name Telangiectasis
Synonyms telangiectasia
Definition Local dilatation of small vessels resulting in red discoloration of the skin or mucous membranes.
Disease Hierarchy
DISXSU1Y: Peripheral vascular disease
:
DIS8WCAO: Telangiectasis
Disease Identifiers
MONDO ID
MONDO_0001576
MESH ID
D013684
UMLS CUI
C0039446
MedGen ID
21088
HPO ID
HP:0001009
SNOMED CT ID
112641009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ACVRL1 TTGYPTC Strong Genetic Variation [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SMAD4 OTWQWCKG Strong Genetic Variation [2]
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References

1 Characterization of five novel large deletions causing hereditary haemorrhagic telangiectasia.Clin Genet. 2008 Apr;73(4):320-30. doi: 10.1111/j.1399-0004.2008.00968.x. Epub 2008 Feb 26.
2 SMAD4 mutations found in unselected HHT patients.J Med Genet. 2006 Oct;43(10):793-7. doi: 10.1136/jmg.2006.041517. Epub 2006 Apr 13.