Rare diseases · Sign or symptom
Esophageal varix
Enlarged vein in esophagus
HP:0002040
What it means
Extreme dilation of the submucusoal veins in the lower portion of the esophagus.
Esophageal varices are most often a consequence of portal hypertension.
Rare diseases that can present with this19
Common30–79%
5Sometimes5–29%
12- Adams-Oliver syndrome
- Alström syndrome
- Caroli disease
- Caroli syndrome
- Cholesteryl ester storage disease
- Glycogen storage disease due to glycogen branching enzyme deficiency
- Hereditary hemorrhagic telangiectasia
- Homocystinuria due to cystathionine beta-synthase deficiency
and 4 more in this range
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Enlarged vein in oesophagus · Esophageal varices
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.