| Disease ID | Source | Name | Description |
| 271400 | OMIM | Asplenia, isolated congenital (ICAS) | A rare primary immunodeficiency and life-threatening condition, often presenting with pneumococcal sepsis. Most affected individuals die of severe bacterial infections in early childhood. Isolated asplenia is distinct from asplenia associated with other complex visceral defects, notably heterotaxy syndromes such as Ivemark syndrome. The disease is caused by variants affecting the gene represented in this entry. |