Parathyroid gland disorder

Summary

Parathyroid gland disorder (MONDO:0001223) is a disease with 7 GWAS associations across 7 studies and 37 clinical trials. Top therapeutic interventions include cefazolin, palopegteriparatide, and biotin. A subtype of endocrine system disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• GWAS associations: 7
• Clinical trials: 37

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	parathyroid gland disorder
Mondo ID	MONDO:0001223
EFO	EFO:0005754
MeSH	D010279
DOID	DOID:11201
ICD-11	962023213
NCIT	C26844
SNOMED CT	73132005
UMLS	C4025822
MedGen	893009
Anatomy (UBERON)	UBERON:0001132
Is cancer (heuristic)	no

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

Data availability: 7 GWAS associations (7 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 › parathyroid gland disorder

Related subtypes (47): autoimmune disorder of endocrine system, endocrine gland neoplasm, gonadal disorder, pancreas disorder, thyroid gland disorder, pituitary gland disorder, thymus gland disorder, liver disorder, adrenal gland 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 (4): hypoparathyroidism, hyperparathyroidism, parathyroid hyperplasia, tumor of parathyroid gland

Genetics & variants

GWAS landscape

7 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
chr6:10869648	3e-20		G	0.17
rs9357002	3e-19	TMEM14B	T	0.16
rs149743155	1e-15	MIR6500 - C1orf185	T	0.47
rs3091842	1e-13	MAFB - RNA5SP484	G	0.3
rs78132596	2e-12	C1orf185	A	0.45
rs139722766	5e-08	EBF2	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90475691	Verma A	2024	5,963	442,087	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90473188	UK Biobank Whole-Genome Sequencing Consortium	2025	2,649	455,791	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90475690	Verma A	2024	2,306	118,167	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90479895	Verma A	2024	2,306	118,167	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90435717	Zhou W	2018	877	405,386	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
GCST90651729	Liu TY	2025	679	224,577	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.
GCST90477330	Verma A	2024	670	58,854	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	0
Tier 2: splice/UTR	0
Tier 3: regulatory	0
Tier 4: intronic/intergenic	6

MAF distribution

Bucket	Variants
common (>=0.05)	3
low_freq (0.01-0.05)	3
rare (<0.01)	0
unknown	0

Functional consequences

Consequence	Count
intron_variant	4
unknown	1
intergenic_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
chr6:10869648				0.448			3e-20	Tier 4: intronic/intergenic
rs9357002	6	10850079	T>A,C	0.308	intron_variant	TMEM14B	3e-19	Tier 4: intronic/intergenic
rs149743155	1	51082101	T>C	0.01	intergenic_variant	MIR6500 - C1orf185	1e-15	Tier 4: intronic/intergenic
rs3091842	20	40715632	G>A	0.04	intron_variant	MAFB - RNA5SP484	1e-13	Tier 4: intronic/intergenic
rs78132596	1	51115895	A>T	0.048	intron_variant	C1orf185	2e-12	Tier 4: intronic/intergenic
rs139722766	8	25929968	C>G,T	0.05	intron_variant	EBF2	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

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

Drug	Status
Calcitonin Human	Approved (phase 4)
Calcitonin Salmon	Approved (phase 4)
Cinacalcet	Approved (phase 4)
Doxercalciferol	Approved (phase 4)
Etelcalcetide	Approved (phase 4)
Paricalcitol	Approved (phase 4)

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

Drug	Highest phase
Evocalcet	Phase 3
Lidocaine	Phase 3
Sodium Chloride	Phase 3

Clinical trials & evidence

Clinical trials

Clinical trials: 37.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	27
PHASE3	6
PHASE4	2
PHASE2	1
PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT03469310	PHASE4	COMPLETED	Minimizing Narcotic Analgesics After Endocrine Surgery
NCT05294393	PHASE4	COMPLETED	Ropivacaine Plus Magnesium Sulphate Infiltration
NCT05778071	PHASE3	ACTIVE_NOT_RECRUITING	Evaluation of the Safety and Efficacy of Eneboparatide (AZP-3601) in Patients With Chronic Hypoparathyroidism
NCT07081997	PHASE3	RECRUITING	A Phase 3 Randomized Clinical Trial to Investigate the Safety and Efficacy of Palopegteriparatide at Doses Greater Than 30 μg/Day in Adult Participants With Hypoparathyroidism
NCT00528502	PHASE3	WITHDRAWN	Lidocaine Supplement for Minimal Invasive Parathyroid Surgery
NCT03555487	PHASE3	COMPLETED	Clinical Value of 18F-FCH PET in Localizing Parathyroid Lesions: Comparison With MIBI Scan.
NCT04701203	PHASE3	COMPLETED	A Trial Investigating the Safety, Tolerability and Efficacy of TransCon PTH Administered Daily in Adults With Hypoparathyroidism
NCT05387070	PHASE3	COMPLETED	PaTHway CHINA TRIAL: A Trial to Investigating the Safety, Tolerability and Efficacy of TransCon PTH in Adults With Hypoparathyroidism
NCT04009291	PHASE2	COMPLETED	A Trial Investigating the Safety, Tolerability and Efficacy of TransCon PTH in Adults With Hypoparathyroidism
NCT03640247	PHASE1	COMPLETED	Pain Medications Following Thyroidectomy and Parathyroidectomy
NCT07173621	Not specified	ENROLLING_BY_INVITATION	Comparing the Impact of AMNIOEFFECT Application vs Standard of Care on Post-Operative Healing in Patients Who Have Undergone Thyroid and Parathyroid Surgery Via the Transcutaneous Approach
NCT00403598	Not specified	UNKNOWN	Preliminary Study for Identification of Calcium-Binding Proteins in the Serum in Various Metabolic Bone Disorders
NCT00569920	Not specified	COMPLETED	Nausea and Pain Prophylaxis During Thyroid Surgery
NCT00639405	Not specified	TERMINATED	Evaluation of MRI and SPECT Fusion Software to Localize Parathyroid Adenomas
NCT01539486	Not specified	COMPLETED	Relationship of Preoperative Parathyroid Hormone (PTH) and Ex-Vivo Gamma Counts in Minimally Invasive Parathyroidectomy
NCT01539499	Not specified	COMPLETED	Complications of Endocrine Surgery: Data From the United HealthSystem Consortium
NCT01545622	Not specified	COMPLETED	Surgeon Compared to Nuclear Radiology Readers for Tc-99m Sestamibi Scans for Parathyroid Disease
NCT01574287	Not specified	COMPLETED	Anti-3-[18F]FACBC Imaging of Parathyroid Adenomas
NCT01794676	Not specified	COMPLETED	Genetic Evaluation of Families With Endocrine Cancers
NCT01805856	Not specified	COMPLETED	Antimicrobial Prophylaxis in Thyroid and Parathyroid Surgery
NCT02901873	Not specified	COMPLETED	EIS in Thyroid and Parathyroid Surgery
NCT03034707	Not specified	COMPLETED	Interference of Biotin Supplementation in Biotin-streptavidin Platforms for Hormone Testing
NCT03044600	Not specified	TERMINATED	Gene Expression in Hyperparathyroidism
NCT03051126	Not specified	UNKNOWN	Establishment of a Parathyroid Tissue Bank
NCT03747029	Not specified	COMPLETED	Serum Calcium to Phosphorous (Ca/P) Ratio in the Diagnosis of Ca-P Metabolism Disorders: a Multicentre Study
NCT04344886	Not specified	COMPLETED	Optimization and Individualization of Diagnostic Scintigraphy Protocol and Minimally Invasive Radio-guided Parathyroid Surgery
NCT04569513	Not specified	UNKNOWN	The Analysis of Thyroidectomy and Parathyroidectomy
NCT04589884	Not specified	TERMINATED	Intraoperative EXamination Using MAChine-learning-based HYperspectral for diagNosis & Autonomous Anatomy Assessment
NCT04704349	Not specified	COMPLETED	Latest Imaging SPECT System Evaluation Phase 1
NCT04745793	Not specified	TERMINATED	Precise Recognition With Enhanced Vision of Endocrine Neck Targets
NCT05022667	Not specified	COMPLETED	Assessing Benefits of Near Infrared Autofluorescence (NIRAF) Detection for Identifying Parathyroid Glands During Total Thyroidectomy
NCT05152927	Not specified	COMPLETED	Near Infrared Autofluorescence (NIRAF) Detection for Identifying Parathyroid Glands During Parathyroidectomy
NCT05243979	Not specified	UNKNOWN	The Relation Between Thyroid , Parathyroid Hormones and eGFR in CKD Patients in Assiut
NCT05432050	Not specified	UNKNOWN	Bispectral Index and Patient State Index During General Anesthesia With Remimazolam
NCT05540795	Not specified	COMPLETED	Diagnostic Accuracy of 3T MR for Secondary Hyperparathyroidism Comparison With 4DCT
NCT05688007	Not specified	COMPLETED	The Association Between Parathyroid Hormone and Preterm Labor
NCT06274970	Not specified	COMPLETED	PaThERAS: ERAS Protocols in Thyroid & Parathyroid Surgery

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
CEFAZOLIN	4	3
PALOPEGTERIPARATIDE	4	3
BIOTIN	4	1
FLUCICLOVINE F18	4	1
TRAMADOL	4	1
THYROID	3	1
ENEBOPARATIDE	2	1
CHEMBL4059722	0	1
CHEMBL4782949	0	1
(R,R)-TRAMADOL	0	1