Pituitary gland disorder

Summary

Pituitary gland disorder (MONDO:0003381) is a disease (an umbrella term covering 9 Mondo subtypes) with 7 GWAS associations across 18 studies. A subtype of reproductive system disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Umbrella term: 9 Mondo subtypes
• GWAS associations: 7

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	pituitary gland disorder
Mondo ID	MONDO:0003381
EFO	EFO:0009607
MeSH	D010900
DOID	DOID:53
NCIT	C26854
SNOMED CT	399244003
UMLS	C0032002
MedGen	45934
Anatomy (UBERON)	UBERON:0000007
Is cancer (heuristic)	no

Also known as: disease of pituitary gland · disease or disorder of pituitary gland · disorder of pituitary gland · pituitary gland disease · pituitary gland disease or disorder · pituitary gland disorder

Data availability: 7 GWAS associations (18 studies).

Disease family

This is a subtype of reproductive system 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 › reproductive system disorder › pituitary gland disorder

Related subtypes (29): pelvic organ prolapse, cortisone reductase deficiency, physiological sexual disorder, gonadal disorder, female reproductive system disorder, male reproductive system disorder, infertility disorder, hypospadias, reproductive system neoplasm, dysplasia of cervix, female genital tuberculosis, habitual spontaneous abortion, aromatase excess syndrome, hand-foot-genital syndrome, mullerian duct anomalies-limb anomalies syndrome, Currarino triad, double uterus-hemivagina-renal agenesis syndrome, congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency, classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency, congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency, spondylocostal dysostosis-anal and genitourinary malformations syndrome, congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, estrogen resistance syndrome, short stature, microcephaly, and endocrine dysfunction, diethylstilbestrol syndrome, sexually transmitted disease, NR5A1-related sex development disorder

Subtypes (9): necrosis of pituitary, pituitary hypoplasia, hypopituitarism, empty sella syndrome, inappropriate ADH syndrome, neurohypophyseal diabetes insipidus, pituitary tumor, hypophysitis, anterior pituitary gland disorder

Genetics & variants

GWAS landscape

7 GWAS associations across 18 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
rs529454687	6e-13	RTL6 - KRT18P23	T	3.97
rs533230190	9e-13	LINC02720 - COX6A1P4	G	2.42
rs538111676	3e-12	C4orf50	C	3.29
rs529231307	4e-12	NACAP2 - RPL21P16	G	3.06
rs540463143	6e-12	PTPRD	T	3.31
rs574971740	3e-11	LINC02843 - MIR4289	G	2.59
rs190970851	5e-08	BCL2L1	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90477334	Verma A	2024	6,179	439,651	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90477338	Verma A	2024	2,904	445,872	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90477333	Verma A	2024	1,713	118,831	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90479899	Verma A	2024	1,713	118,831	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90473190	UK Biobank Whole-Genome Sequencing Consortium	2025	1,188	457,252	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90473189	UK Biobank Whole-Genome Sequencing Consortium	2025	1,179	457,261	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90477332	Verma A	2024	875	58,339	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90435720	Zhou W	2018	693	405,386	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
GCST90481594	Verma A	2024	671	449,328	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90651717	Liu TY	2025	578	224,577	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.

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	7

MAF distribution

Bucket	Variants
common (>=0.05)	0
low_freq (0.01-0.05)	0
rare (<0.01)	6
unknown	1

Functional consequences

Consequence	Count
intergenic_variant	4
intron_variant	3

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs529454687	22	44563984	T>A,C,G	0	intergenic_variant	RTL6 - KRT18P23	6e-13	Tier 4: intronic/intergenic
rs533230190	11	80852255	G>A	0	intron_variant	LINC02720 - COX6A1P4	9e-13	Tier 4: intronic/intergenic
rs538111676	4	5917271	C>A	0	intergenic_variant	C4orf50	3e-12	Tier 4: intronic/intergenic
rs529231307	10	120264749	G>A	0	intergenic_variant	NACAP2 - RPL21P16	4e-12	Tier 4: intronic/intergenic
rs540463143	9	9128277	T>C	0.001	intron_variant	PTPRD	6e-12	Tier 4: intronic/intergenic
rs574971740	9	88671310	G>A	0	intergenic_variant	LINC02843 - MIR4289	3e-11	Tier 4: intronic/intergenic
rs190970851	20	31668479	A>G		intron_variant	BCL2L1	5e-08	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

Drugs indicated or in trials for this disease

1 approved drug — disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Status
Somatropin	Approved (phase 4)

1 drug in clinical trials for this disease (phase 2–3, investigational): efficacy not established — a trial record, not an indication.

Drug	Highest phase
Pegvisomant	Phase 3

Clinical trials & evidence

Clinical trials

Clinical trials: 0.