Rare diseases · Sign or symptom
Hyperuricemia
High blood uric acid level
HP:0002149
What it means
The concentration of uric acid in the blood circulation is above the upper limit of normal.
Rare diseases that can present with this27
Very common80–99%
9- Beta-ketothiolase deficiency
- Familial osteodysplasia, Anderson type
- Glycogen storage disease due to glucose-6-phosphatase deficiency
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
- Juvenile Paget disease
- Lesch-Nyhan syndrome
- Mild phosphoribosylpyrophosphate synthetase superactivity
- Phosphoribosylpyrophosphate synthetase superactivity
- Severe phosphoribosylpyrophosphate synthetase superactivity
Common30–79%
10- 3-hydroxy-3-methylglutaric aciduria
- Acute adrenal insufficiency
- Addison disease
- Burkitt lymphoma
- Cystinuria
- Distal 16p11.2 microdeletion syndrome
- Fructose-1,6-bisphosphatase deficiency
- Glycogen storage disease due to muscle phosphofructokinase deficiency
- Hypoxanthine guanine phosphoribosyltransferase partial deficiency
- Late-onset isolated ACTH deficiency
Sometimes5–29%
6The 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: Elevated uric acid concentration · Elevated uric acid level · Elevated uric acid level in blood · Hyperuricaemia · Increased uric acid concentration · Increased uric acid level · Increased uric acid level in blood
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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.