Adrenal gland disorder

Summary

Adrenal gland disorder (MONDO:0005495) is a disease (an umbrella term covering 18 Mondo subtypes) with 2 GWAS associations across 10 studies and 7 clinical trials. Top therapeutic interventions include hydrocortisone and iodocholesterol i 131. A subtype of endocrine system disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Umbrella term: 18 Mondo subtypes
• GWAS associations: 2
• Clinical trials: 7

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	adrenal gland disorder
Mondo ID	MONDO:0005495
EFO	EFO:0005539
MeSH	D000307
DOID	DOID:9553
NCIT	C26690
SNOMED CT	30171000
UMLS	C4021794
MedGen	892577
Anatomy (UBERON)	UBERON:0002369
Is cancer (heuristic)	no

Also known as: adrenal gland disease · adrenal gland disease or disorder · adrenal gland diseases · adrenal gland disorder · adrenal gland disorders · disease of adrenal gland · disease or disorder of adrenal gland · disorder of adrenal gland

Data availability: 2 GWAS associations (10 studies).

Disease family

This is a subtype of endocrine 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 › endocrine system disorder › adrenal gland disorder

Related subtypes (47): autoimmune disorder of endocrine system, parathyroid gland disorder, endocrine gland neoplasm, gonadal disorder, pancreas disorder, thyroid gland disorder, pituitary gland disorder, thymus gland disorder, liver disorder, hyperinsulinemic hypoglycemia, non-neoplastic bile duct disorder, endocrine tuberculosis, campomelic dysplasia, polycystic ovary syndrome, dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome, genito-palato-cardiac syndrome, hypoinsulinemic hypoglycemia and body hemihypertrophy, Bamforth-Lazarus syndrome, blepharophimosis - intellectual disability syndrome, SBBYS type, Wolfram-like syndrome, hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, estrogen resistance syndrome, short stature, microcephaly, and endocrine dysfunction, polyendocrinopathy, pituitary deficiency, hereditary endocrine growth disease, diencephalic syndrome, muscular pseudohypertrophy-hypothyroidism syndrome, neonatal iodine exposure, disorders of vitamin D metabolism, rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome, duplication of the pituitary gland, familial hypocalciuric hypercalcemia, hypothalamic adipsic hypernatraemia syndrome, Leydig cell hypoplasia, inherited obesity, beta thalassemia, thyroid hormone metabolism, abnormal, neuroendocrine disorder, NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction, parneoplastic endocrine syndrome, 17,20-lyase deficiency, isolated, 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete, 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial, disorder of GNAS inactivation, acquired hypothalamic obesity

Subtypes (18): medulloadrenal hyperfunction, adrenal cortex disorder, adrenal medullary hyperplasia, pituitary dwarfism, pseudoleprechaunism syndrome, Patterson type, apparent mineralocorticoid excess, autoimmune polyendocrine syndrome type 1, adrenomyodystrophy, corticosteroid-binding globulin deficiency, Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency, adrenogenital syndrome, hypoaldosteronism disease, primary pigmented nodular adrenocortical disease, adrenoleukodystrophy, adrenal gland neoplasm, ectopic ACTH secretion syndrome, endogenous Cushing syndrome, isolated micronodular adrenocortical disease

Genetics & variants

GWAS landscape

2 GWAS associations across 10 studies. Top hits map to 1 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs6563624	6e-12	B3GLCT - RXFP2	T	0.12
rs116144913	4e-07	MYO3B	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90477341	Verma A	2024	4,848	441,892	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90477340	Verma A	2024	2,075	118,263	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90479904	Verma A	2024	2,075	118,263	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90473192	UK Biobank Whole-Genome Sequencing Consortium	2025	1,721	456,719	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90652102	Liu TY	2025	1,270	244,885	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.
GCST90079755	Backman JD	2021	649	387,197	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90083741	Backman JD	2021	649	387,197	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90435726	Zhou W	2018	642	405,386	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
GCST90477339	Verma A	2024	537	58,892	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90726731	Kim HI	2026	121	43,905	Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity.

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	2

MAF distribution

Bucket	Variants
common (>=0.05)	2
low_freq (0.01-0.05)	0
rare (<0.01)	0
unknown	0

Functional consequences

Consequence	Count
intergenic_variant	1
intron_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs6563624	13	31619754	T>A,C,G	0.447	intergenic_variant	B3GLCT - RXFP2	6e-12	Tier 4: intronic/intergenic
rs116144913	2	170581139	C>T	0.05	intron_variant	MYO3B	4e-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

Drugs indicated for this disease

7 approved. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Dexamethasone	Approved (phase 4)
Hydrocortisone	Approved (phase 4)
Ketoconazole	Approved (phase 4)
Levoketoconazole	Approved (phase 4)
Osilodrostat	Approved (phase 4)
Prednisone	Approved (phase 4)
Trilostane	Approved (phase 4)

Clinical trials & evidence

Clinical trials

Clinical trials: 7.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	5
PHASE3	1
PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT00037843	PHASE3	COMPLETED	Iodine I-131 Iodocholesterol, Its Use in Adrenal Screening
NCT03718234	PHASE1	COMPLETED	Subcutaneous Hydrocortisone Children With Congenital Adrenal Hyperplasia
NCT03484130	Not specified	ACTIVE_NOT_RECRUITING	Prospective Phenotyping of Autonomous Aldosterone Secretion
NCT07558135	Not specified	NOT_YET_RECRUITING	The ARISE Trial Compares Whether Giving Routine Steroid Replacement or Using Targeted Blood Tests to Guide Replacement Better Protects Certain Patients From Adrenal Insufficiency After the Removal of a Diseased Adrenal Gland.
NCT07577427	Not specified	NOT_YET_RECRUITING	Benign and Malignant Adrenal Gland Surgery: Single Center Experience
NCT00721929	Not specified	COMPLETED	Lipid-poor Adrenal Masses: Evaluation With Chemical Shift MRI
NCT03327142	Not specified	COMPLETED	EUS-guided FNA in the Study of the Adrenal Gland

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
HYDROCORTISONE	4	1
IODOCHOLESTEROL I 131	2	1