hyperhomocysteinemia
MONDO:0004743Mondo
Findings
No curated finding names hyperhomocysteinemia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A serious metabolic condition caused by mutations in the MTHFR gene, medications, or nutritional deficiency. It results in increased levels of homocysteine in the blood. Patients with this condition are at an increased risk for recurrent blood clots formation and cardiovascular accidents.
Definition from the Mondo Disease Ontology (MONDO:0004743), read 2026-09-29. CC BY 4.0.
Features
1 feature
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, hp/releases/2026-09-01.
- HyperhomocystinemiaMondoHP:0002160
Where it sits
- A kind of
Other names
1 name
Resolves to: hyperhomocysteinemia
- Also called
- homocysteinemia