Rare diseases · Sign or symptom
Hepatosplenomegaly
Enlarged liver and spleen
HP:0001433
What it means
Simultaneous enlargement of the liver and spleen.
Rare diseases that can present with this88
Very common80–99%
14- Acrocephalopolydactyly
- Atypical Gaucher disease due to saposin C deficiency
- Chronic neurovisceral acid sphingomyelinase deficiency
- Familial chylomicronemia syndrome
- GM1 gangliosidosis type 1
- Infantile neurovisceral acid sphingomyelinase deficiency
- Lysosomal acid lipase deficiency
- Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
- Müllerian derivatives-lymphangiectasia-polydactyly syndrome
- Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome
- Sialuria
- Syndromic multisystem autoimmune disease due to Itch deficiency
- TAFRO syndrome
- Transaldolase deficiency
Common30–79%
28- Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
- African trypanosomiasis
- Aggressive systemic mastocytosis
- Aicardi-Goutières syndrome
- Alpha-mannosidosis, infantile form
- Alpha-thalassemia
- Chédiak-Higashi syndrome
- COG4-CDG
- Congenital bile acid synthesis defect type 3
- Congenital sialidosis type 2
- Congenital syphilis
- Fetal Gaucher disease
- Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
- Gaucher disease type 1
- GM1 gangliosidosis
- Hepatic veno-occlusive disease-immunodeficiency syndrome
- Hereditary cryohydrocytosis with reduced stomatin
- H syndrome
- Idiopathic pulmonary hemosiderosis
- Lysinuric protein intolerance
- Neonatal intrahepatic cholestasis due to citrin deficiency
- Primary myelofibrosis
- Primary sclerosing cholangitis
- Roifman syndrome
- Senior-Boichis syndrome
- STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
- Subcutaneous panniculitis-like T-cell lymphoma
- Tangier disease
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, and Orphanet separately records 3 diseases where this sign is specifically absent. 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.