Pyloric stenosis, infantile hypertrophic, 5

Summary

Pyloric stenosis, infantile hypertrophic, 5 (MONDO:0012922) is a disease with 1 cohort gene.

At a glance

• Cohort genes: 1
• ClinVar variants: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	pyloric stenosis, infantile hypertrophic, 5
Mondo ID	MONDO:0012922
MeSH	C567283
OMIM	612525
UMLS	C2675862
MedGen	390899
Is cancer (heuristic)	no

Also known as: IHPS5 · infantile hypertrophic pyloric stenosis type 5 · pyloric stenosis, infantile hypertrophic, 5

Data availability: 1 ClinVar variant.

Disease family

Classification path: disease › human disease › disease by body system or component › digestive system disorder › stomach disorder › pyloric stenosis › hypertrophic pyloric stenosis › inherited hypertrophic pyloric stenosis › pyloric stenosis, infantile hypertrophic, 5

Related subtypes (5): pyloric stenosis, infantile hypertrophic, 1, pyloric stenosis, infantile hypertrophic, 4, pyloric stenosis, infantile hypertrophic, 2, pyloric stenosis, infantile hypertrophic, 3, intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome

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
132838	NM_001451.3(FOXF1):c.416G>A (p.Arg139Gln)	FOXF1	Likely pathogenic	no assertion criteria provided

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.