Patent urachus
disease diseaseOn this page
Also known as patent urachus (disease)
Summary
Patent urachus (MONDO:0018551) is a disease. A subtype of congenital urachal anomaly — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: 1-9 / 100 000 (United States) [Orphanet-validated]
- Phenotypes (HPO): 10
Clinical features
Epidemiology
Prevalence records
1 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1.75 | United States | Validated |
Signs & symptoms
Clinical features (HPO)
10 HPO clinical features (Orphanet curated; top 10 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0010479 | Patent urachus | Very frequent (80-99%) |
| HP:0010881 | Abnormality of the umbilical cord | Very frequent (80-99%) |
| HP:0000010 | Recurrent urinary tract infections | Frequent (30-79%) |
| HP:0002027 | Abdominal pain | Frequent (30-79%) |
| HP:0012618 | Urachal cyst | Frequent (30-79%) |
| HP:0034267 | Pelvic pain | Frequent (30-79%) |
| HP:0100645 | Cystocele | Frequent (30-79%) |
| HP:0005420 | Recurrent gram-negative bacterial infections | Occasional (5-29%) |
| HP:0010957 | Congenital posterior urethral valve | Occasional (5-29%) |
| HP:0032435 | Neonatal omphalitis | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | patent urachus |
| Mondo ID | MONDO:0018551 |
| Orphanet | 431341 |
| ICD-11 | 1391202028 |
| NCIT | C99005 |
| SNOMED CT | 398316009 |
| UMLS | C0266357 |
| MedGen | 75610 |
| GARD | 0021798 |
| Is cancer (heuristic) | no |
Also known as: patent urachus · patent urachus (disease)
Data availability: 1 HPO phenotype.
Disease family
This is a subtype of congenital urachal anomaly. 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 › congenital urachal anomaly › patent urachus
Related subtypes (3): urachal sinus, urachal diverticulum, urachal cyst
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: 0.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.