Splenic disorder

Summary

Splenic disorder (MONDO:0002332) is a disease (an umbrella term covering 8 Mondo subtypes) with 4 GWAS associations across 7 studies and 3 clinical trials. Top therapeutic interventions include sulfur hexafluoride. A subtype of hematologic disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Umbrella term: 8 Mondo subtypes
• GWAS associations: 4
• Clinical trials: 3

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	splenic disorder
Mondo ID	MONDO:0002332
EFO	EFO:0009002
MeSH	D013158
DOID	DOID:2529
ICD-10-CM	D73
NCIT	C35823
SNOMED CT	51244008
UMLS	C0037997
MedGen	21291
Anatomy (UBERON)	UBERON:0002106
Is cancer (heuristic)	no

Also known as: disease of spleen · disease or disorder of spleen · disorder of spleen · spleen disease · spleen disease or disorder · spleen disorder · splenic disorder

Data availability: 4 GWAS associations (7 studies).

Disease family

This is a subtype of hematologic disorder. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › hematologic disorder › splenic disorder

Related subtypes (26): autoimmune disorder of blood, blood coagulation disease, hemorrhagic disease, blood platelet disease, anemia, hematopoietic and lymphoid system neoplasm, blood group incompatibility, bone marrow disorder, thymus gland disorder, leukocyte disorder, monoclonal gammopathy, septicemic plague, hyperamylasemia, alpha thalassemia-intellectual disability syndrome type 1, Bloom syndrome, congenital hematological disorder, alpha-thalassemia-myelodysplastic syndrome, deafness-lymphedema-leukemia syndrome, L-ferritin deficiency, dyskeratosis congenita, autosomal dominant 6, polyclonal hyperviscosity syndrome, parasitemia, erythrocyte disorder, premalignant hematological system disease, GATA1-Related X-Linked Cytopenia, paraneoplastic hematological syndrome

Subtypes (8): splenic sequestration, splenic abscess, splenic tuberculosis, hypersplenism, splenic infarction, spleen neoplasm, congestive splenomegaly, wandering spleen

Genetics & variants

GWAS landscape

4 GWAS associations across 7 studies. Top hits map to 3 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs77375493	4e-16	JAK2	G	2.06
rs140349235	2e-12	STEAP1B	G	3.13
rs183719282	2e-11	PLG - MAP3K4-AS1	C	3.67
rs534159225	4e-11	CNTN5	T	2.56

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90477474	Verma A	2024	1,598	447,807	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90473143	UK Biobank Whole-Genome Sequencing Consortium	2025	1,387	457,053	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90079718	Backman JD	2021	692	387,204	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90083704	Backman JD	2021	692	387,204	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90435832	Zhou W	2018	515	401,375	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
GCST90479991	Verma A	2024	304	121,240	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90481672	Verma A	2024	304	121,240	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	1
Tier 2: splice/UTR	0
Tier 3: regulatory	0
Tier 4: intronic/intergenic	3

MAF distribution

Bucket	Variants
common (>=0.05)	0
low_freq (0.01-0.05)	0
rare (<0.01)	4
unknown	0

Functional consequences

Consequence	Count
intron_variant	2
missense_variant	1
intergenic_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs77375493	9	5073770	G>A,C,T	0	missense_variant	JAK2	4e-16	Tier 1: coding
rs140349235	7	22480444	G>A,T	0	intron_variant	STEAP1B	2e-12	Tier 4: intronic/intergenic
rs183719282	6	160773050	C>A,T	0	intergenic_variant	PLG - MAP3K4-AS1	2e-11	Tier 4: intronic/intergenic
rs534159225	11	99479787	T>C	0.001	intron_variant	CNTN5	4e-11	Tier 4: intronic/intergenic

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 3.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	3

Top trials by phase / activity

NCT	Phase	Status	Title
NCT07365709	Not specified	NOT_YET_RECRUITING	Liver Cirrhosis Complicated by Clinically Significant Portal Hypertension
NCT06364865	Not specified	COMPLETED	AE05ML Device for ML Hem-o-lok Polymer Clip Delivery in Laparoscopic Surgical Procedures Observational Registery Study
NCT06468787	Not specified	COMPLETED	Kosmos Anatomical Object Labeling and View Identification Pivotal Study

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
SULFUR HEXAFLUORIDE	4	1