Secondary hyperparathyroidism of renal origin

Summary

Secondary hyperparathyroidism of renal origin (MONDO:0001530) is a disease with 6 GWAS associations across 4 studies. A subtype of impaired renal function disease — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• GWAS associations: 6

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	secondary hyperparathyroidism of renal origin
Mondo ID	MONDO:0001530
DOID	DOID:12465
ICD-10-CM	N25.81
ICD-11	610229783
SNOMED CT	19034001
UMLS	C0271847
MedGen	543606
Is cancer (heuristic)	no

Also known as: secondary hyperparathyroidism (of renal origin)

Data availability: 6 GWAS associations (4 studies).

Disease family

This is a subtype of impaired renal function disease. 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 › urinary system disorder › kidney disorder › impaired renal function disease › secondary hyperparathyroidism of renal origin

Related subtypes (3): hypophosphatemic nephrolithiasis/osteoporosis 1, hypophosphatemic nephrolithiasis/osteoporosis 2, nephrogenic diabetes insipidus

Subtypes (1): renal osteodystrophy

Genetics & variants

GWAS landscape

6 GWAS associations across 4 studies. Top hits map to 4 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs73885319	6e-31	APOL1	A	0.32
chr22:36696087	4e-30		C	0.31
rs77924615	5e-15	PDILT	G	0.19
rs36060036	5e-14	UMOD	C	0.21
chr22:36091958	2e-13		C	0.21
rs535921475	4e-11	C1QTNF3-AMACR	A	1.56

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90476138	Verma A	2024	5,486	443,102	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90476137	Verma A	2024	3,359	117,379	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90480386	Verma A	2024	3,359	117,379	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90478542	Verma A	2024	898	58,713	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	1
Tier 2: splice/UTR	0
Tier 3: regulatory	0
Tier 4: intronic/intergenic	5

MAF distribution

Bucket	Variants
common (>=0.05)	4
low_freq (0.01-0.05)	1
rare (<0.01)	1
unknown	0

Functional consequences

Consequence	Count
intron_variant	3
unknown	2
missense_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs73885319	22	36265860	A>G	0.045	missense_variant	APOL1	6e-31	Tier 1: coding
chr22:36696087				0.46			4e-30	Tier 4: intronic/intergenic
rs77924615	16	20381010	G>A	0.174	intron_variant	PDILT	5e-15	Tier 4: intronic/intergenic
rs36060036	16	20350628	C>T	0.163	intron_variant	UMOD	5e-14	Tier 4: intronic/intergenic
chr22:36091958				0.454			2e-13	Tier 4: intronic/intergenic
rs535921475	5	34118930	A>G	0.001	intron_variant	C1QTNF3-AMACR	4e-11	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

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.