Rare diseases · Sign or symptom
Asplenia
Absent spleen
HP:0001746
What it means
Absence (aplasia) of the spleen.
Rare diseases that can present with this13
Sometimes5–29%
10- Autoimmune polyendocrinopathy type 1
- Congenital alveolar capillary dysplasia
- Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
- Meckel syndrome
- Mosaic trisomy 9 syndrome
- Mowat-Wilson syndrome
- Mowat-Wilson syndrome due to a ZEB2 point mutation
- Mowat-Wilson syndrome due to monosomy 2q22
and 2 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
Asplenia
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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.