Familial primary hyperparathyroidism

Summary

Familial primary hyperparathyroidism (MONDO:0016365) is a disease (an umbrella term covering 5 Mondo subtypes) and 1 clinical trial. A subtype of primary hyperparathyroidism — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: Unknown (Worldwide)
• Umbrella term: 5 Mondo subtypes
• Clinical trials: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	familial primary hyperparathyroidism
Mondo ID	MONDO:0016365
Orphanet	2207
ICD-11	1186866066
UMLS	C0271846
MedGen	543605
GARD	0002837
Is cancer (heuristic)	no

Also known as: hereditary primary hyperparathyroidism (disease)

Disease family

This is a subtype of primary hyperparathyroidism. 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 › hyperparathyroidism › primary hyperparathyroidism › familial primary hyperparathyroidism

Subtypes (5): multiple endocrine neoplasia type 1, hyperparathyroidism 2 with jaw tumors, neonatal severe primary hyperparathyroidism, familial isolated hyperparathyroidism, hyperparathyroidism, primary, caused by water clear cell hyperplasia

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

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: 1.

Phase distribution (across all retrieved trials)

Phase	Trials
PHASE3	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT00325104	PHASE3	COMPLETED	Cinacalcet to Treat Familial Primary Hyperparathyroidism