Rare diseases · Sign or symptom
Hyperbilirubinemia
High blood bilirubin levels
HP:0002904
What it means
An increased amount of bilirubin in the blood.
Rare diseases that can present with this27
Very common80–99%
2Common30–79%
14- Abetalipoproteinemia
- Acquired hemophagocytic lymphohistiocytosis associated with malignant disease
- Autosomal dominant spastic paraplegia type 29
- Caroli syndrome
- Congenital bile acid synthesis defect type 3
- Congenital dyserythropoietic anemia type III
- Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
- Hereditary spherocytosis
- Immune-mediated thrombotic thrombocytopenic purpura
- Malaria
- Mirizzi syndrome
- Renal-hepatic-pancreatic dysplasia
- Rh deficiency syndrome
- Rotor syndrome
Sometimes5–29%
11- Cystic echinococcosis
- Graft versus host disease
- Hepatoportal sclerosis
- Hereditary elliptocytosis
- Intrahepatic cholestasis of pregnancy
- Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome
- Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome
- T-cell based immunotherapy-associated cytokine release syndrome
and 3 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
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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.