Congenital primary megaureter

Summary

Congenital primary megaureter (MONDO:0018960) is a disease (an umbrella term covering 5 Mondo subtypes) and 7 clinical trials. A subtype of kidney disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: Unknown (Worldwide)
• Umbrella term: 5 Mondo subtypes
• Phenotypes (HPO): 10
• Clinical trials: 7

Clinical features

Signs & symptoms

Clinical features (HPO)

10 HPO clinical features (Orphanet curated; top 10 by frequency):

HPO ID	Term	Frequency
HP:0000126	Hydronephrosis	Very frequent (80-99%)
HP:0008676	Congenital megaureter	Very frequent (80-99%)
HP:0010935	Abnormality of the upper urinary tract	Very frequent (80-99%)
HP:0000010	Recurrent urinary tract infections	Frequent (30-79%)
HP:0000076	Vesicoureteral reflux	Frequent (30-79%)
HP:0000787	Nephrolithiasis	Frequent (30-79%)
HP:0001945	Fever	Frequent (30-79%)
HP:0002027	Abdominal pain	Frequent (30-79%)
HP:0002907	Microscopic hematuria	Frequent (30-79%)
HP:0000036	Abnormality of the penis	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	congenital primary megaureter
Mondo ID	MONDO:0018960
Orphanet	617
ICD-11	566805920
SNOMED CT	717459000
UMLS	C4273898
MedGen	903364
GARD	0018700
Is cancer (heuristic)	no

Also known as: CGM · congenital giant megaureter · congenital megalo-ureter · congenital primary megalo-ureter

Disease family

This is a subtype of kidney disorder. 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 › congenital primary megaureter

Related subtypes (56): renal hypertension, kidney failure, nephritis, impaired renal function disease, nephrocalcinosis, atheroembolism of kidney, renal artery disease, nephrosis, cystic kidney disease, anuria, stricture or kinking of ureter, proteinuria, renal infectious disease, diabetes insipidus, orthostatic proteinuria, kidney hypertrophy, chronic kidney disease, hydronephrosis, renal tubular transport disease, kidney cortex necrosis, kidney papillary necrosis, perinephritis, renal aminoaciduria, autosomal dominant progressive nephropathy with hypertension, nephrolithiasis, X-linked diffuse leiomyomatosis-Alport syndrome, tubulointerstitial nephritis and uveitis syndrome, distal renal tubular acidosis, oligomeganephronia, duplication of urethra, renal tubular dysgenesis, exstrophy-epispadias complex, fetal lower urinary tract obstruction, IgG4-related kidney disease, renal nutcracker syndrome, renal hypoplasia, renal dysplasia, congenital megacalycosis, glomerular disorder, congenital renal artery stenosis, kidney neoplasm, renal tubule disorder, pyonephrosis, Arnold stickler bourne syndrome, C1q nephropathy, hypertensive nephropathy, atypical Fanconi syndrome-neonatal hyperinsulinism syndrome, idiopathic non-lupus full-house nephropathy, lachiewicz sibley syndrome, crush syndrome, obstructive nephropathy, inherited kidney disorder, acute tubulointerstitial nephritis, kidney cortex disease, non-syndromic supernumerary kidneys, neonatal renal venous thrombosis

Subtypes (5): primary megaureter, adult-onset form, congenital primary megaureter, obstructed form, congenital primary megaureter, refluxing form, congenital primary megaureter, nonrefluxing and unobstructed form, congenital primary megaureter, refluxing and obstructed form

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: 7.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	7

Top trials by phase / activity

NCT	Phase	Status	Title
NCT07061301	Not specified	RECRUITING	Transition to Hospital Discharge in Insulinized Patients With Type 2 Diabetes Mellitus
NCT07611721	Not specified	RECRUITING	Evaluate the Performance of the Dexcom G7 Continuous Glucose Monitoring (CGM) System in Critically Ill Patients Undergoing Major Abdominal Surgery and Solid Organ Transplantation Which Require Blood Glucose Monitoring for Intensive Insulin Therapy.
NCT00465881	Not specified	COMPLETED	Develop Novel Methods to Display, Report and Analyze CGM Data for Clinical Decision-Making in People With Diabetes
NCT00467675	Not specified	COMPLETED	Establishing Ambulatory Glucose Profiles for People Without Diabetes Using CGM Data
NCT03443713	Not specified	COMPLETED	Evaluation of Physician-based Decision Support
NCT03981328	Not specified	COMPLETED	Real-time Continuous Glucose Monitoring for Reduced Adverse Complications and Events in Women With Gestational Diabetes (GRACE): a Multicentre International Randomized Controlled Trial
NCT06226948	Not specified	COMPLETED	Using the Visualization for Lifestyle Change in Patients At Risk of Cardiovascular Diseases