Trait

Mucosal telangiectasiae

Telangiectasia of the mucosa, the mucous membranes which are involved in absorption and secretion that line cavities that are exposed to the external environment and internal organs.

HPO HP:0100579

Body system: Abnormality of the cardiovascular system Abnormality of the integument

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14 genes linked to Mucosal telangiectasiae

Changes in these genes cause rare conditions in which Mucosal telangiectasiae is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.

Gene	How often it is seen	Conditions
ACVRL1activin A receptor like type 1	Very often (80–99%)	In 1 condition
ATMATM serine/threonine kinase	Very often (80–99%)	In 1 condition
ENGendoglin	Very often (80–99%)	In 1 condition
GDF2growth differentiation factor 2	Very often (80–99%)	In 1 condition
GLAgalactosidase alpha	Very often (80–99%)	In 1 condition
SMAD4SMAD family member 4	Very often (80–99%)	In 1 condition
CAV1caveolin 1	Often (30–79%)	In 1 condition
CCN2cellular communication network factor 2	Often (30–79%)	In 1 condition
CCR6C-C motif chemokine receptor 6	Often (30–79%)	In 1 condition
HLA-DRB1major histocompatibility complex, class II, DR beta 1	Often (30–79%)	In 1 condition
IRF5interferon regulatory factor 5	Often (30–79%)	In 1 condition
KIAA0319LKIAA0319 like	Often (30–79%)	In 1 condition
LBRlamin B receptor	Often (30–79%)	In 1 condition
PTENphosphatase and tensin homolog	Often (30–79%)	In 1 condition

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

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Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
Data release 2026.10.16-c6eea6bf.

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