Hereditary hyperparathyroidism

Summary

Hereditary hyperparathyroidism (MONDO:0016166) is a disease. A subtype of hyperparathyroidism — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	hereditary hyperparathyroidism
Mondo ID	MONDO:0016166
OMIM	145000
Orphanet	208596
UMLS	C5680826
MedGen	1843372
GARD	0020408
Is cancer (heuristic)	no

Also known as: genetic hyperparathyroidism

Disease family

This is a subtype of 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 › hereditary hyperparathyroidism

Related subtypes (3): secondary hyperparathyroidism, primary hyperparathyroidism, tertiary hyperparathyroidism

Subtypes (2): familial primary hyperparathyroidism, hyperparathyroidism, transient neonatal

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: 0.