Hyperpituitarism

Summary

Hyperpituitarism (MONDO:0006793) is a disease with 15 GWAS associations across 6 studies. A subtype of anterior pituitary gland disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• GWAS associations: 15

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	hyperpituitarism
Mondo ID	MONDO:0006793
EFO	EFO:1000973
MeSH	D006964
DOID	DOID:2444
SNOMED CT	10649000
UMLS	C0020506
MedGen	43783
MedDRA	10020716
Is cancer (heuristic)	no

Data availability: 15 GWAS associations (6 studies).

Disease family

An umbrella term covering 4 Mondo subtypes.

Classification path: disease › human disease › disease by body system or component › reproductive system disorder › pituitary gland disorder › anterior pituitary gland disorder › hyperpituitarism

Related subtypes (1): adenohypophysitis

Subtypes (4): hyperprolactinemia, acromegaly, pituitary gigantism, ACTH-dependent Cushing syndrome

Genetics & variants

GWAS landscape

15 GWAS associations across 6 studies. Top hits map to 8 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs144433643	3e-13	TMEM178B	G	2.5
rs191479569	2e-12	ABCB1	C	4.03
rs188130988	3e-12	LINC03138 - HEMK2	T	1.93
rs182761019	4e-12	IL1R1	T	3.85
rs537681478	7e-12	LINC01997 - MECOM	C	3.43
rs548096117	8e-12	LCORL - LINC02438	C	2.82
rs568201086	9e-12	UBE2V1P8	T	3.95
rs80071644	9e-12	TCP11 - SCUBE3	T	1.97
rs181004029	2e-11	FAIM2	C	3.36
rs181473590	2e-11	LINC00504	C	2.43
rs184787862	2e-11	TAF8 - C6orf132	G	4.65
rs554708608	3e-11	BRINP1 - LINC01613	G	4.02
rs145044204	3e-11	MAD1L1	C	2.86
rs566056507	4e-11	ACSM2A	A	2.32
rs146984877	1e-07	MTCO1P49 - ZFAT	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90477335	Verma A	2024	912	449,913	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90479896	Verma A	2024	458	121,228	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90481590	Verma A	2024	458	121,228	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90651874	Liu TY	2025	295	224,577	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.
GCST90481589	Verma A	2024	229	59,570	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90435721	Zhou W	2018	189	405,386	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	0
Tier 2: splice/UTR	0
Tier 3: regulatory	0
Tier 4: intronic/intergenic	15

MAF distribution

Bucket	Variants
common (>=0.05)	0
low_freq (0.01-0.05)	0
rare (<0.01)	14
unknown	1

Functional consequences

Consequence	Count
intron_variant	11
intergenic_variant	3
non_coding_transcript_exon_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs144433643	7	141146873	G>A,C,T	0.001	intron_variant	TMEM178B	3e-13	Tier 4: intronic/intergenic
rs191479569	7	87511994	C>T	0	intron_variant	ABCB1	2e-12	Tier 4: intronic/intergenic
rs188130988	21	28865835	T>A	0.001	intergenic_variant	LINC03138 - HEMK2	3e-12	Tier 4: intronic/intergenic
rs182761019	2	102163518	T>G	0.001	intron_variant	IL1R1	4e-12	Tier 4: intronic/intergenic
rs537681478	3	169078379	C>T	0	intron_variant	LINC01997 - MECOM	7e-12	Tier 4: intronic/intergenic
rs548096117	4	18820700	C>A,T	0.001	intron_variant	LCORL - LINC02438	8e-12	Tier 4: intronic/intergenic
rs568201086	1	40942381	T>C	0	non_coding_transcript_exon_variant	UBE2V1P8	9e-12	Tier 4: intronic/intergenic
rs80071644	6	35161220	T>C	0.002	intergenic_variant	TCP11 - SCUBE3	9e-12	Tier 4: intronic/intergenic
rs181004029	12	49883303	C>T	0.001	intron_variant	FAIM2	2e-11	Tier 4: intronic/intergenic
rs181473590	4	14798924	C>T	0.001	intron_variant	LINC00504	2e-11	Tier 4: intronic/intergenic
rs184787862	6	42087895	G>A	0	intergenic_variant	TAF8 - C6orf132	2e-11	Tier 4: intronic/intergenic
rs554708608	9	119833147	G>T	0	intron_variant	BRINP1 - LINC01613	3e-11	Tier 4: intronic/intergenic
rs145044204	7	1979729	C>T	0.001	intron_variant	MAD1L1	3e-11	Tier 4: intronic/intergenic
rs566056507	16	20481179	A>C,T	0.002	intron_variant	ACSM2A	4e-11	Tier 4: intronic/intergenic
rs146984877	8	134268515	C>T		intron_variant	MTCO1P49 - ZFAT	1e-07	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: 0.