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familial isolated congenital asplenia (ICAS) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

familial isolated congenital asplenia

MONDO:0010066

Also known as:ICASasplenia, familialasplenia, isolated congenital

Overview

Familial isolated congenital asplenia is a rare, non-syndromic, potentially life-threatening visceral malformation characterized by the absence of normal spleen function, resulting in a primary immunodeficiency. Typically, the condition manifests with severe, recurrent, overwhelming infections (especially pneumococcal sepsis) in otherwise apparently healthy infants. In adults with no history of severe sepsis in infancy, thrombocytosis may be the presenting sign. Howell-Jolly bodies on blood smears and an absent spleen on abdominal ultrasound examination are highly suggestive associated findings.

GeneticsAutosomal dominant · RPSA (chr 3)

ResearchLimited published research (3 articles)

Clinical Presentation

Features include sometimes findings: Elevated platelet count (thrombocytosis). 3 total HPO annotations.

Organ System	Phenotype Count	Example Features
Blood and immune system	1	Elevated platelet count (thrombocytosis)

Explore clinical features

Genetic Landscape

RPSA function has not been fully characterized.

Familial isolated congenital asplenia is associated with mutations in the RPSA gene on chromosome 3.

Diagnosis

Genetic testing for RPSA is available. Testing is considered confirmatory for diagnosis.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for familial isolated congenital asplenia.

3 publications have been identified in PubMed for familial isolated congenital asplenia. Research spans Case Report / Case Series (33%), Basic Science / Preclinical (33%), and Epidemiology / Natural History (33%).

Recent Publications

Trefond L (2026). [PMID: 41825925](https://pubmed.ncbi.nlm.nih.gov/41825925/). *RMD Open*. [Epidemiology / Natural History]
Yan J (2025). [PMID: 40264466](https://pubmed.ncbi.nlm.nih.gov/40264466/). *Front Pediatr*. [Case Report / Case Series]
Li X (2024). [PMID: 39025980](https://pubmed.ncbi.nlm.nih.gov/39025980/). *Sci Rep*. [Basic Science / Preclinical]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 5:52 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:271400

Orphanet

European rare disease database

Orphanet:101351

GARD

Genetic and Rare Diseases Info Center

GARD:16944

Questions for Your Care Team

→Should I pursue genetic testing for RPSA, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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familial isolated congenital asplenia

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team