Rare diseases · Sign or symptom
Hepatomegaly
Enlarged liver
HP:0002240
What it means
Abnormally increased size of the liver.
Rare diseases that can present with this317
Very common80–99%
71- AKT2-related familial partial lipodystrophy
- Alagille syndrome
- Alpha-mannosidosis
- AREDYLD syndrome
- Autosomal recessive malignant osteopetrosis
- Autosomal semi-dominant severe lipodystrophic laminopathy
- Carnitine-acylcarnitine translocase deficiency
- Cholestasis-lymphedema syndrome
- Cholesteryl ester storage disease
- Chronic granulomatous disease
- CIDEC-related familial partial lipodystrophy
- Congenital bile acid synthesis defect type 1
- Congenital generalized lipodystrophy
- Congenital hyperinsulinism due to HNF4A deficiency
- Distal deletion 17q syndrome
- Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type
- Encephalopathy due to prosaposin deficiency
- Familial partial lipodystrophy, Dunnigan type
- Fucosidosis
- Galactose epimerase deficiency
- Gaucher disease
- Gaucher disease type 1
- Gaucher disease type 2
- Gaucher disease type 3
- Glycogen storage disease due to acid maltase deficiency, infantile onset
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
- Glycogen storage disease due to glycogen branching enzyme deficiency
- Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
- Glycogen storage disease due to liver glycogen phosphorylase deficiency
- Glycogen storage disease due to liver phosphorylase kinase deficiency
- Griscelli syndrome type 2
- Heme oxygenase-1 deficiency
- Hepatic veno-occlusive disease
- Hurler-Scheie syndrome
- Hurler syndrome
- Hyperimmunoglobulinemia D with periodic fever
- Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome
- Infantile Refsum disease
- Isolated complex I deficiency
- Isolated polycystic liver disease
- Joubert syndrome with hepatic defect
- Leishmaniasis
- LIPE-related familial partial lipodystrophy
- Macrosomia-microphthalmia-cleft palate syndrome
- MPI-CDG
- Muckle-Wells syndrome
- Müllerian derivatives-lymphangiectasia-polydactyly syndrome
- Multifocal infantile hemangioma with extracutenous involvement
- Multiple sulfatase deficiency
- Neonatal ichthyosis-sclerosing cholangitis syndrome
- Neonatal severe primary hyperparathyroidism
- Niemann-Pick disease type C
- Omenn syndrome
- Paternal uniparental disomy of chromosome 6 syndrome
- Pediatric hepatocellular carcinoma
- Perlman syndrome
- Polycythemia vera
- PPARG-related familial partial lipodystrophy
- Progressive familial intrahepatic cholestasis
- Renal-hepatic-pancreatic dysplasia
- Reynolds syndrome
- Schnitzler syndrome
- Sialidosis type 2
- Sialuria
- Simpson-Golabi-Behmel syndrome
- Systemic primary carnitine deficiency
- Thoraco-abdominal enteric duplication
- Vitamin B12-responsive methylmalonic acidemia
- Wilson disease
- Wolman disease
- Zellweger syndrome
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
Hepatomegaly
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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.