X-linked hypophosphatemic rickets

Summary

X-linked hypophosphatemic rickets (MONDO:0020720) is a disease and 4 clinical trials. Top therapeutic interventions include burosumab. A subtype of hereditary hypophosphatemic rickets — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Clinical trials: 4

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	X-linked hypophosphatemic rickets
Mondo ID	MONDO:0020720
MeSH	D053098
ICD-11	1169135980
NCIT	C123265
UMLS	C3540852
MedGen	761927
GARD	0025223
Is cancer (heuristic)	no

Also known as: X-linked hypophosphatemic rickets · X-linked hypophosphatemic rickets (recessive or dominant)

Disease family

This is a subtype of hereditary hypophosphatemic rickets. 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 etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › hereditary hypophosphatemic rickets › X-linked hypophosphatemic rickets

Related subtypes (3): autosomal dominant hypophosphatemic rickets, hereditary hypophosphatemic rickets with hypercalciuria, autosomal recessive hypophosphatemic rickets

Subtypes (2): hypophosphatemic rickets, X-linked recessive, X-linked dominant hypophosphatemic rickets

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

Drugs indicated or in trials for this disease

1 approved drug — disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Status
Burosumab	Approved (phase 4)

1 drug in clinical trials for this disease (phase 2–3, investigational): efficacy not established — a trial record, not an indication.

Drug	Highest phase
Sodium Fluoride	Phase 3

Clinical trials & evidence

Clinical trials

Clinical trials: 4.

Phase distribution (across all retrieved trials)

Phase	Trials
PHASE3	1
PHASE1/PHASE2	1
PHASE1	1
Not specified	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT03233126	PHASE3	COMPLETED	A Study of KRN23 in Pediatric Patients With X-linked Hypophosphatemic Rickets/Osteomalacia
NCT02720770	PHASE1/PHASE2	COMPLETED	Growth Hormone Treatment in Children With Hypophosphatemic Rickets
NCT02181764	PHASE1	COMPLETED	A Study of KRN23 in Subjects With X-linked Hypophosphatemic Rickets/Osteomalacia
NCT06248632	Not specified	UNKNOWN	Effect of Burosumab on the Inflammatory Profile of Patients With X-linked Hypophosphatemic Rickets FLAM-XLH

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
BUROSUMAB	4	2