Rare diseases · Sign or symptom
Jaundice
Yellow skin
HP:0000952
What it means
Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.
In everyday care
Most people with this sign do not have a rare disease — it appears in common conditions far more often. These general reference pages cover the same topic:
Rare diseases that can present with this112
Very common80–99%
23- Acute liver failure
- Benign recurrent intrahepatic cholestasis
- Cholangiocarcinoma
- Cholestasis-lymphedema syndrome
- Congenital bile acid synthesis defect type 1
- Crigler-Najjar syndrome
- Dubin-Johnson syndrome
- Galactose epimerase deficiency
- Hepatic veno-occlusive disease
- Isolated biliary atresia
- Lysosomal acid lipase deficiency
- Muscular pseudohypertrophy-hypothyroidism syndrome
- Neonatal ichthyosis-sclerosing cholangitis syndrome
- Neonatal intrahepatic cholestasis due to citrin deficiency
- Niemann-Pick disease type C
- Perihilar cholangiocarcinoma
- Progressive familial intrahepatic cholestasis
- Rotor syndrome
- Thyroid ectopia
- Thyroid hemiagenesis
- Thyroid hypoplasia
- Wilson disease
- Zellweger syndrome
Common30–79%
25- Alpha-1-antitrypsin deficiency
- Alveolar echinococcosis
- Babesiosis
- Beta-thalassemia intermedia
- Caroli disease
- Caroli syndrome
- Classic galactosemia
- COG7-CDG
- Congenital bile acid synthesis defect type 2
- Congenital bile acid synthesis defect type 3
- Evans syndrome
- Familial pancreatic carcinoma
- Glutathione synthetase deficiency
- Griscelli syndrome type 2
- Hemolytic anemia due to glucophosphate isomerase deficiency
- Hereditary cryohydrocytosis with reduced stomatin
- Hereditary spherocytosis
- Lambert syndrome
- Mirizzi syndrome
- Occipital horn syndrome
- Parenteral nutrition-associated cholestasis
- Primary biliary cholangitis
- Relapsing fever
- Sickle cell anemia
- Southeast Asian ovalocytosis
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: Icterus · Yellowing of the skin
Tracking symptoms like this for someone? Eleplan keeps symptoms, diagnoses, medications and every specialist in one plan.
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.