Hyperparathyroidism, primary, caused by water clear cell hyperplasia

Summary

Hyperparathyroidism, primary, caused by water clear cell hyperplasia (MONDO:0044350) is a disease. A subtype of familial primary 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	hyperparathyroidism, primary, caused by water clear cell hyperplasia
Mondo ID	MONDO:0044350
MeSH	C563982
OMIM	600166
UMLS	C1838501
MedGen	325036
GARD	0018254
Is cancer (heuristic)	no

Also known as: hyperparathyroidism, primary, caused by water clear cell hyperplasia

Disease family

This is a subtype of familial 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 › hyperparathyroidism, primary, caused by water clear cell hyperplasia

Related subtypes (4): multiple endocrine neoplasia type 1, hyperparathyroidism 2 with jaw tumors, neonatal severe primary hyperparathyroidism, familial isolated hyperparathyroidism

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.