Atresia of urethra

Summary

Atresia of urethra (MONDO:0015195) is a disease with 1 cohort gene.

At a glance

• Prevalence: Unknown (Worldwide) [Orphanet-validated]
• Cohort genes: 1
• ClinVar variants: 1
• Phenotypes (HPO): 14

Clinical features

Signs & symptoms

Clinical features (HPO)

14 HPO clinical features (Orphanet curated; top 14 by frequency):

HPO ID	Term	Frequency
HP:0000076	Vesicoureteral reflux	Very frequent (80-99%)
HP:0000083	Renal insufficiency	Very frequent (80-99%)
HP:0000010	Recurrent urinary tract infections	Frequent (30-79%)
HP:0000021	Megacystis	Frequent (30-79%)
HP:0000072	Hydroureter	Frequent (30-79%)
HP:0000126	Hydronephrosis	Frequent (30-79%)
HP:0001562	Oligohydramnios	Frequent (30-79%)
HP:0003270	Abdominal distention	Frequent (30-79%)
HP:0004321	Bladder fistula	Frequent (30-79%)
HP:0010479	Patent urachus	Frequent (30-79%)
HP:0010955	Dilatation of the bladder	Frequent (30-79%)
HP:0000110	Renal dysplasia	Occasional (5-29%)
HP:0001541	Ascites	Occasional (5-29%)
HP:0010444	Pulmonary insufficiency	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	atresia of urethra
Mondo ID	MONDO:0015195
Orphanet	105
ICD-10-CM	Q64.3
SNOMED CT	253902002
UMLS	C0345345
MedGen	576882
GARD	0018678
MedDRA	10064895
Is cancer (heuristic)	no

Also known as: atresia of urethra · atresia of urethra (disease) · urethral atresia

Data availability: 1 ClinVar variant · 1 HPO phenotype.

Disease family

Classification path: disease › human disease › disease by body system or component › urinary system disorder › kidney disorder › fetal lower urinary tract obstruction › atresia of urethra

Related subtypes (4): prune belly syndrome, posterior urethral valve, urethral obstruction sequence, anterior urethral valve

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

ClinVar germline variants

1 retrieved; paginated sample, class counts are floors:

1 likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
374061	NM_001451.3(FOXF1):c.280A>T (p.Asn94Tyr)	FOXF1	Likely pathogenic	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 1 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
FOXF1	Orphanet:210122	Congenital alveolar capillary dysplasia

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
FOXF1	HGNC:3809	ENSG00000103241	Q12946	Forkhead box protein F1	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
FOXF1	Forkhead box protein F1	Probable transcription activator for a number of lung-specific genes.

Protein-family classification

Druggable: 0 · Difficult: 1 · Unknown: 0 · Druggable fraction: 0.0

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Transcription factor	1	8.3×	0.121

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
FOXF1	Transcription factor	no		Fork_head_dom, TF_fork_head_CS_1, TF_fork_head_CS_2

Expression context

Cohort genes with no expression data: 0.

1 cohort gene are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	1
unknown	0

Top tissues across cohort

Tissue	Cohort genes
mucosa of stomach	1
muscle layer of sigmoid colon	1
right lung	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
FOXF1	202	broad	marker	muscle layer of sigmoid colon, mucosa of stomach, right lung

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
FOXF1	1,694

Structural data

PDB: 0 · AlphaFold-only: 1 · No structure: 0

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
FOXF1	Q12946	59.41

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 2. Enrichment computed across 1 evidence-associated genes (1 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Formation of lateral plate mesoderm	1	2284.0×	9e-04	FOXF1
Regulation of CDH11 gene transcription	1	1038.2×	1e-03	FOXF1

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
detection of wounding	1	16852.0×	9e-04	FOXF1
embryonic ectodermal digestive tract morphogenesis	1	16852.0×	9e-04	FOXF1
right lung morphogenesis	1	16852.0×	9e-04	FOXF1
lateral mesodermal cell differentiation	1	8426.0×	0.001	FOXF1
trachea development	1	5617.3×	0.001	FOXF1
epithelial cell differentiation involved in mammary gland alveolus development	1	4213.0×	0.001	FOXF1
respiratory tube development	1	3370.4×	0.001	FOXF1
venous blood vessel development	1	3370.4×	0.001	FOXF1
mesenchyme migration	1	3370.4×	0.001	FOXF1
ductus arteriosus closure	1	3370.4×	0.001	FOXF1
negative regulation of mast cell degranulation	1	2808.7×	0.001	FOXF1
ureter development	1	2808.7×	0.001	FOXF1
morphogenesis of a branching structure	1	2106.5×	0.001	FOXF1
midgut development	1	2106.5×	0.001	FOXF1
lung lobe morphogenesis	1	2106.5×	0.001	FOXF1
embryonic foregut morphogenesis	1	1685.2×	0.002	FOXF1
cardiac left ventricle morphogenesis	1	1532.0×	0.002	FOXF1
lung vasculature development	1	1532.0×	0.002	FOXF1
endocardial cushion development	1	1404.3×	0.002	FOXF1
establishment of epithelial cell apical/basal polarity	1	1053.2×	0.002	FOXF1
embryonic digestive tract morphogenesis	1	936.2×	0.002	FOXF1
smooth muscle cell differentiation	1	887.0×	0.002	FOXF1
epithelial tube branching involved in lung morphogenesis	1	842.6×	0.002	FOXF1
pancreas development	1	674.1×	0.003	FOXF1
positive regulation of mesenchymal cell proliferation	1	601.9×	0.003	FOXF1
cellular response to cytokine stimulus	1	543.6×	0.003	FOXF1
digestive tract development	1	526.6×	0.003	FOXF1
positive regulation of cell-substrate adhesion	1	495.6×	0.003	FOXF1
blood vessel development	1	374.5×	0.004	FOXF1
somitogenesis	1	374.5×	0.004	FOXF1

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 1

Druggability breadth: 0 of 1 evidence-associated genes (0%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
FOXF1	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	1	FOXF1

Undrugged target profiles

1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
FOXF1	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.