Aortic valve atresia

Summary

Aortic valve atresia (MONDO:0019808) 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	aortic valve atresia
Mondo ID	MONDO:0019808
Orphanet	95448
ICD-11	1700740306
NCIT	C98818
SNOMED CT	51442005
UMLS	C0265843
MedGen	451016
GARD	0019260
MedDRA	10066801
Is cancer (heuristic)	no

Also known as: aortic valve atresia · aortic valve atresia (disease) · congenital aortic valve atresia · congenital atresia of aortic valve

Data availability: 1 ClinVar variant · 1 HPO phenotype.

Disease family

Classification path: disease › human disease › disease by body system or component › cardiovascular disorder › heart disorder › congenital heart disease › aortic valve atresia

Related subtypes (22): congenital heart defects, multiple types, heart septal defect, tetralogy of fallot, heart defects-limb shortening syndrome, tricuspid atresia, patent ductus arteriosus, coronary artery congenital malformation, mitral atresia disorder, persistent truncus arteriosus, dextro-looped transposition of the great arteries, congenital pulmonary veins anomaly, mehta lewis patton syndrome, structural congenital heart disease, multiple types - GATA4, GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes, GATA5-related congenital heart defects, RBFOX2-related congenital heart disorder, syndromic congenital heart disease, ACTC1-related distal arthrogryposis with congenital heart disease, HAND1 related congenital heart defect, HAND2 related congenital heart defect, TFAP2B-related congenital heart disease spectrum disorder, PLD1-related congenital heart disease

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 benign/likely benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
55847	NM_001349338.3(FOXP1):c.1702C>T (p.Pro568Ser)	FOXP1	Benign/Likely benign	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 3 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
FOXP1	Orphanet:391372	FOXP1 Syndrome
FOXP1	Orphanet:52417	MALT lymphoma
FOXP1	Orphanet:585877	B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality

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
FOXP1	HGNC:3823	ENSG00000114861	Q9H334	Forkhead box protein P1	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
FOXP1	Forkhead box protein P1	Transcriptional repressor.

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)
FOXP1	Transcription factor	no		Fork_head_dom, TF_fork_head_CS_2, FOXP-CC

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
cardia of stomach	1
oviduct epithelium	1
pancreatic ductal cell	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
FOXP1	256	ubiquitous	marker	pancreatic ductal cell, oviduct epithelium, cardia of stomach

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
FOXP1	2,939

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
FOXP1	Q9H334	1

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 1. 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
Transcriptional regulation of pluripotent stem cells	1	543.8×	0.002	FOXP1

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
regulation of macrophage colony-stimulating factor production	1	16852.0×	0.001	FOXP1
regulation of monocyte differentiation	1	8426.0×	0.001	FOXP1
regulation of defense response to bacterium	1	8426.0×	0.001	FOXP1
positive regulation of interleukin-21 production	1	5617.3×	0.001	FOXP1
regulation of chemokine (C-X-C motif) ligand 2 production	1	5617.3×	0.001	FOXP1
regulation of interleukin-12 production	1	4213.0×	0.001	FOXP1
positive regulation of hydrogen peroxide-mediated programmed cell death	1	4213.0×	0.001	FOXP1
regulation of endothelial tube morphogenesis	1	3370.4×	0.001	FOXP1
positive regulation of B cell receptor signaling pathway	1	2407.4×	0.001	FOXP1
regulation of interleukin-1 beta production	1	2106.5×	0.001	FOXP1
osteoclast development	1	2106.5×	0.001	FOXP1
monocyte activation	1	1872.4×	0.001	FOXP1
regulation of tumor necrosis factor production	1	1685.2×	0.001	FOXP1
endothelial cell activation	1	1685.2×	0.001	FOXP1
negative regulation of B cell apoptotic process	1	1532.0×	0.001	FOXP1
negative regulation of cell growth involved in cardiac muscle cell development	1	1404.3×	0.001	FOXP1
T follicular helper cell differentiation	1	1404.3×	0.001	FOXP1
striatum development	1	1123.5×	0.002	FOXP1
negative regulation of androgen receptor signaling pathway	1	936.2×	0.002	FOXP1
macrophage activation	1	702.2×	0.002	FOXP1
response to testosterone	1	468.1×	0.003	FOXP1
osteoclast differentiation	1	343.9×	0.004	FOXP1
positive regulation of smooth muscle cell proliferation	1	330.4×	0.004	FOXP1
positive regulation of endothelial cell migration	1	251.5×	0.005	FOXP1
regulation of inflammatory response	1	168.5×	0.008	FOXP1
cellular response to tumor necrosis factor	1	163.6×	0.008	FOXP1
response to lipopolysaccharide	1	124.8×	0.009	FOXP1
regulation of gene expression	1	83.4×	0.014	FOXP1
negative regulation of gene expression	1	69.1×	0.016	FOXP1
DNA damage response	1	53.5×	0.020	FOXP1

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
FOXP1	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	FOXP1

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)
FOXP1	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.