Primary tethered cord syndrome

Summary

Primary tethered cord syndrome (MONDO:0017086) is a disease and 5 clinical trials. Top therapeutic interventions include acetazolamide. A subtype of neural tube defect — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: Unknown (Worldwide)
• Clinical trials: 5

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	primary tethered cord syndrome
Mondo ID	MONDO:0017086
Orphanet	268861
ICD-11	66705662
SNOMED CT	70534000
UMLS	C4708602
MedGen	1636724
GARD	0004018
NORD	1762
Is cancer (heuristic)	no

Also known as: occult spinal dysraphism · occult spinal dysraphism sequence · primary tethered spinal cord syndrome · segmental vertebral anomalies · Tethered Cord Syndrome · tethered cord syndrome

Disease family

This is a subtype of neural tube defect. 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 › nervous system disorder › central nervous system malformation › neural tube defect › primary tethered cord syndrome

Related subtypes (11): Chiari malformation type I, lateral meningocele syndrome, diastematomyelia, lipomyelomeningocele, sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome, leptomyelolipoma, neurenteric cyst, isolated amyelia, caudal regression sequence, parietal foramina, iniencephaly

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: 5.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	4
PHASE2	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT01867268	PHASE2	UNKNOWN	Effect of Acetazolamide & Position in CSF Leakage and Collection and Wound Dehiscence
NCT05163899	Not specified	RECRUITING	Investigation of Surgical Sectioning of the Filum Terminale in Treating Occult Tethered Cord Syndrome Patients
NCT03262844	Not specified	UNKNOWN	Efficacy and Safety of Nerve Root Axial Decompression Surgery in The Treatment of Tethered Cord Syndrome
NCT04738539	Not specified	UNKNOWN	Efficacy of Contrast Enhanced Voiding Urosonography for Urodynamic Studies
NCT05579795	Not specified	UNKNOWN	Surgical Management and Outcome of Tethered Cord Syndrome

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
ACETAZOLAMIDE	4	1