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ORPHA:101351

Familial isolated congenital asplenia

high confidenceDisorder

Publications

13

21.7th percentile

Trials

1

Interventional, condition-specific

Researchers

69

Distinct authors in sample

Gene link

RPSA

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Familial isolated asplenia is a rare, non-syndromic, potentially life-threatening visceral 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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

3/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — RPSA

  2. LiteraturePresent

    13 matched papers (6 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    1 matched on ClinicalTrials.gov (1 recruiting in sample)

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Yes — we know a specific gene responsible (RPSA).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

13

13 papers have ever been indexed under this name. For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

13 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

6 in the last 10 years · high confidence · 21.7th percentile (publications denominator)

Phrase hits: 3 · MeSH hits: 10

Open Europe PMC search

Who's working on it?

69

Distinct author names in 13 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Douni E2 papers · 2017

    Laboratory of Genetics, Department of Biotechnology, Agricultural University of Athens, Athens, Greece.

    Papers in Europe PMC
  2. 02
    Ioakeimidis F2 papers · 2017

    Laboratory of Genetics, Department of Biotechnology, Agricultural University of Athens, Athens, Greece.

    Papers in Europe PMC
  3. 03
    Li Y2 papers · 2024

    Division of Pancreatic Surgery, Department of General Surgery, West China Hospital of Sichuan University, Chengdu, Sichuan, People's Republic of China.

    Papers in Europe PMC
  4. 04
    Ahmed SA1 paper · 2010

    Luton and Dunstable Hospital NHS Trust, 40 St. Augustine Avenue, Luton LU3 1QB, UK. Dr_ather77@hotmail.com

    Papers in Europe PMC
  5. 05
    Bailey-Lundberg J1 paper · 2023

    Department of Anesthesiology, Center for Perioperative Medicine, McGovern Medical School, The University of Texas Health Sciences Center, Houston, TX 77030, USA.

    Papers in Europe PMC
  6. 06
    Belin V1 paper · 2002
    Papers in Europe PMC
  7. 07
    BRADBURY S1 paper · 1965
    Papers in Europe PMC
  8. 08
    Brosset P1 paper · 2002
    Papers in Europe PMC
  9. 09
    Cai H1 paper · 2024

    Division of Pancreatic Surgery, Department of General Surgery, West China Hospital of Sichuan University, Chengdu, Sichuan, People's Republic of China.

    Papers in Europe PMC
  10. 10
    Cai Y1 paper · 2024

    Division of Pancreatic Surgery, Department of General Surgery, West China Hospital of Sichuan University, Chengdu, Sichuan, People's Republic of China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; 1 currently recruiting in our sample.

Data as of 27 July 2026

1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).

high confidence · 76.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 interventional trials matched after quoted-phrase search and title/condition post-filter.

Where to find support

We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

"Familial isolated congenital asplenia"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Splenic Hypoplasia

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Familial isolated congenital asplenia" OR "Splenic Hypoplasia" OR "RPSA"

Recall-expansion terms: RPSA

Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 1 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh, recall-expansion

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T07:21:54.747Z