Congenital pseudoarthrosis of the tibia

disease

On this page

Also known as congenital pseudarthrosis of the tibiacongenital pseudarthrosis of tibia

Summary

Congenital pseudoarthrosis of the tibia (MONDO:0017462) is a disease and 6 clinical trials. A subtype of congenital pseudoarthrosis of the limbs — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

Clinical trials: 6

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	congenital pseudoarthrosis of the tibia
Mondo ID	MONDO:0017462
Orphanet	295018
NCIT	C132080
SNOMED CT	55379003
UMLS	C0265661
MedGen	539398
GARD	0021203
Is cancer (heuristic)	no

Also known as: congenital pseudarthrosis of the tibia · congenital pseudarthrosis of tibia

Disease family

This is a subtype of congenital pseudoarthrosis of the limbs. 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 › congenital pseudoarthrosis of the limbs › congenital pseudoarthrosis of the tibia

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: 6.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	4
PHASE3	1
PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT07112443	PHASE3	RECRUITING	A Study to Assess How Effective and Safe NVD003 is for Treating Patients With Congenital Pseudarthrosis of the Tibia.
NCT05693558	PHASE1	UNKNOWN	NVD-003 in the Treatment of Congenital Pseudarthrosis of the Tibia
NCT02640040	Not specified	UNKNOWN	The Effect of Combined Surgery in Management of Congenital Pseudarthrosis of Tibia
NCT02718131	Not specified	TERMINATED	A Study of INFUSE Bone Graft (BMP-2) in the Treatment of Tibial Pseudarthrosis in Neurofibromatosis Type 1 (NF1)
NCT02896114	Not specified	UNKNOWN	A Retrospective Study of Surgical Treatment of Congenital Pseudarthrosis of Tibia in China
NCT03257826	Not specified	UNKNOWN	The Effect of Percutaneous Kirschner Wire Technique in Management of CPT Under One Year Old

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
CHEMBL443232	0	1

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.