Rare diseases · Sign or symptom
Splenomegaly
Increased spleen size
HP:0001744
What it means
Abnormal increased size of the spleen.
Rare diseases that can present with this209
Very common80–99%
44- Acquired hemophagocytic lymphohistiocytosis associated with malignant disease
- Alpha-mannosidosis
- AREDYLD syndrome
- Atypical/leaky severe combined immunodeficiency due to partial RAG defect
- Autoimmune lymphoproliferative syndrome
- Autosomal recessive malignant osteopetrosis
- Beta-thalassemia
- Beta-thalassemia-X-linked thrombocytopenia syndrome
- Budd-Chiari syndrome
- Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type
- Encephalopathy due to prosaposin deficiency
- Galactose epimerase deficiency
- Gaucher disease
- Gaucher disease type 1
- Gaucher disease type 2
- Gaucher disease type 3
- GM1 gangliosidosis
- Griscelli syndrome type 2
- Hemoglobin C-beta-thalassemia syndrome
- Hemolytic anemia due to red cell pyruvate kinase deficiency
- Hemophagocytic syndrome associated with an infection
- Hepatoportal sclerosis
- Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
- Hurler-Scheie syndrome
- Hurler syndrome
- Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome
- Leishmaniasis
- Mevalonic aciduria
- Muckle-Wells syndrome
- Mucopolysaccharidosis type 1
- Mu-heavy chain disease
- Müllerian derivatives-lymphangiectasia-polydactyly syndrome
- Multiple sulfatase deficiency
- Neonatal ichthyosis-sclerosing cholangitis syndrome
- Neonatal severe primary hyperparathyroidism
- Ornithine transcarbamylase deficiency
- Polycythemia vera
- Progressive familial intrahepatic cholestasis
- Schnitzler syndrome
- Short fifth metacarpals-insulin resistance syndrome
- Sialidosis type 1
- Sialidosis type 2
- Simpson-Golabi-Behmel syndrome
- Wilson disease
Common30–79%
36- Activated PI3K-delta syndrome
- Activated PI3K-delta syndrome 1
- Activated PI3K-delta syndrome 2
- Adult-onset Still disease
- Adult Refsum disease
- African trypanosomiasis
- American trypanosomiasis
- Ataxia-pancytopenia syndrome
- Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency
- Autoimmune hemolytic anemia, warm type
- Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
- Autosomal recessive polycystic kidney disease
- Babesiosis
- Beta-thalassemia major
- Brucellosis
- Chédiak-Higashi syndrome
- Cholestasis-lymphedema syndrome
- Cholesteryl ester storage disease
- Chronic myeloid leukemia
- Chronic visceral acid sphingomyelinase deficiency
- CINCA syndrome
- Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
- Combined immunodeficiency due to CRAC channel dysfunction
- Congenital bile acid synthesis defect type 1
- Congenital rubella syndrome
- Cryoglobulinemic vasculitis
- Cystinosis
- Dehydrated hereditary stomatocytosis
- Essential thrombocythemia
- Familial hemophagocytic lymphohistiocytosis
- Familial thrombocytosis
- Felty syndrome
- Fetal cytomegalovirus syndrome
- Follicular lymphoma
- Gamma-heavy chain disease
- GATA2 deficiency spectrum
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 1 disease 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
Also called: Large spleen
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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.