Diffuse idiopathic skeletal hyperostosis

Summary

Diffuse idiopathic skeletal hyperostosis (MONDO:0007127) is a disease with 12 GWAS associations across 1 studies and 1 clinical trial. A subtype of hyperostosis — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
• GWAS associations: 12
• Phenotypes (HPO): 5
• Clinical trials: 1

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		8	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

5 HPO clinical features (Orphanet curated; top 5 by frequency):

HPO ID	Term	Frequency
HP:0000925	Abnormality of the vertebral column	Very frequent (80-99%)
HP:0002758	Osteoarthritis	Very frequent (80-99%)
HP:0040163	Abnormal pelvis bone morphology	Very frequent (80-99%)
HP:0000982	Palmoplantar keratoderma	Frequent (30-79%)
HP:0001513	Obesity	Frequent (30-79%)

Identifiers

Disease identifiers

Field	Value
Canonical name	diffuse idiopathic skeletal hyperostosis
Mondo ID	MONDO:0007127
EFO	EFO:0007236
MeSH	D004057
Orphanet	2206
DOID	DOID:6652
ICD-10-CM	M48.1
NCIT	C84671
SNOMED CT	31487001
UMLS	C0020498
MedGen	5695
GARD	0000842
NORD	1053
Is cancer (heuristic)	no

Also known as: ankylosing vertebral hyperostosis · diffuse idiopathic skeletal hyperostosis · DISH · dish · Forestier’s disease

Data availability: 12 GWAS associations (1 study).

Disease family

This is a subtype of hyperostosis. 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 › musculoskeletal system disorder › skeletal system disorder › bone disorder › bone remodeling disease › hyperostosis › diffuse idiopathic skeletal hyperostosis

Related subtypes (8): exostosis, bone Paget disease, Caffey disease, autosomal dominant osteosclerosis, Worth type, craniodiaphyseal dysplasia, hyperostosis corticalis generalisata, X-linked calvarial hyperostosis, sclerosteosis

Genetics & variants

GWAS landscape

12 GWAS associations across 1 studies. Top hits map to 5 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs2423303	4e-23	SRSF10P2 - HSPBAP1P1	?	0.1
rs4252548	6e-21	IL11	?	0.24
rs927485	2e-19	CDC5L - SUPT3H	?	0.07
rs4548936	7e-14	ANKFN1	?	0.06
rs1402599	2e-13	SUPT3H	?	0.06
rs764128168	3e-11	RN7SL547P - SRSF10P2	?	0.06
rs62562578	9e-11	NFIL3 - ROR2	?	0.05
rs10039329	7e-10	PIK3R1 - LINC02198	?	0.05
rs2425059	1e-08	UQCC1	?	0.04
chr12:28269927	2e-08		?	0.04
rs2705256	4e-08	SLC30A8 - MED30	?	0.06
rs72979233	4e-08	POLD3	?	0.32

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90134532	Sethi A	2023	0	0	Genetics implicates overactive osteogenesis in the development of diffuse idiopathic skeletal hyperostosis.

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	2
Tier 4: intronic/intergenic	9

MAF distribution

Bucket	Variants
common (>=0.05)	11
low_freq (0.01-0.05)	1
rare (<0.01)	0
unknown	0

Functional consequences

Consequence	Count
intron_variant	6
intergenic_variant	2
regulatory_region_variant	2
missense_variant	1
unknown	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs2423303	20	7847175	G>T	0.15	intergenic_variant	SRSF10P2 - HSPBAP1P1	4e-23	Tier 4: intronic/intergenic
rs4252548	19	55368304	C>T	0.02	missense_variant	IL11	6e-21	Tier 1: coding
rs927485	6	44570402	G>A	0.26	regulatory_region_variant	CDC5L - SUPT3H	2e-19	Tier 3: regulatory
rs4548936	17	56136807	A>G	0.4	intron_variant	ANKFN1	7e-14	Tier 4: intronic/intergenic
rs1402599	6	44831920	A>C,G,T	0.27	intron_variant	SUPT3H	2e-13	Tier 4: intronic/intergenic
rs764128168	20	7699184		0.25	intron_variant	RN7SL547P - SRSF10P2	3e-11	Tier 4: intronic/intergenic
rs62562578	9	91489372	T>A,C	0.3	regulatory_region_variant	NFIL3 - ROR2	9e-11	Tier 3: regulatory
rs10039329	5	68545708	C>T	0.41	intron_variant	PIK3R1 - LINC02198	7e-10	Tier 4: intronic/intergenic
rs2425059	20	35324568	T>C	0.37	intron_variant	UQCC1	1e-08	Tier 4: intronic/intergenic
chr12:28269927				0.31			2e-08	Tier 4: intronic/intergenic
rs2705256	8	117274377	A>G	0.15	intron_variant	SLC30A8 - MED30	4e-08	Tier 4: intronic/intergenic
rs72979233	11	74644478	A>G	0.24	intergenic_variant	POLD3	4e-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

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
Not specified	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT03840928	Not specified	UNKNOWN	PatientSpot Formerly Known as ArthritisPower