perianal Crohn disease
disease diseaseOn this page
Also known as perianal Crohn's disease
Summary
perianal Crohn disease (MONDO:0005537) is a disease with 2 cohort genes (2 GWAS associations across 1 studies) and 8 clinical trials.
At a glance
- Cohort genes: 2
- GWAS associations: 2
- Clinical trials: 8
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | perianal Crohn disease |
| Mondo ID | MONDO:0005537 |
| EFO | EFO:0005627 |
| ICD-11 | 464644598 |
| SNOMED CT | 235796008 |
| UMLS | C0341395 |
| MedGen | 574362 |
| Anatomy (UBERON) | UBERON:0001353 |
| Is cancer (heuristic) | no |
Also known as: perianal Crohn’s disease
Data availability: 2 GWAS associations (1 study).
Disease family
Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › inflammatory bowel disease › Crohn disease › perianal Crohn disease
Related subtypes (4): Crohn’s colitis, oral Crohn disease, small bowel Crohn disease, Crohn disease of the esophagus
Genetics & variants
GWAS landscape
2 GWAS associations across 1 studies. Top hits map to 2 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| rs12122337 | 1e-06 | CFAP45 - TAGLN2 | G | 2.2 |
| rs9868898 | 2e-06 | PLCXD2, PHLDB2 | G | 1.49 |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST002729 | Alonso A | 2014 | 1,090 | 0 | Identification of risk loci for Crohn’s disease phenotypes using a genome-wide association study. |
Variant details and genetic-evidence tiers
Tier distribution (top 50 variants)
| Tier | Variants |
|---|---|
| Tier 1: coding | 0 |
| Tier 2: splice/UTR | 0 |
| Tier 3: regulatory | 1 |
| Tier 4: intronic/intergenic | 1 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 2 |
| low_freq (0.01-0.05) | 0 |
| rare (<0.01) | 0 |
| unknown | 0 |
Functional consequences
| Consequence | Count |
|---|---|
| regulatory_region_variant | 1 |
| intron_variant | 1 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs12122337 | 1 | 159916632 | A>C,G | 0.06 | regulatory_region_variant | CFAP45 - TAGLN2 | 1e-06 | Tier 3: regulatory |
| rs9868898 | 3 | 111762099 | A>G | 0.16 | intron_variant | PLCXD2, PHLDB2 | 2e-06 | Tier 4: intronic/intergenic |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 0 · Orphanet: 0 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0
Cohort genes → proteins
2 cohort genes, 2 distinct canonical proteins.
Evidence partition
| Subset | Genes |
|---|---|
| gwas_only | 2 |
Cohort genes (full)
| Symbol | HGNC | Ensembl | UniProt | Name | Evidence |
|---|---|---|---|---|---|
| TAGLN2 | HGNC:11554 | ENSG00000158710 | P37802 | Transgelin-2 | gwas |
| PHLDB2 | HGNC:29573 | ENSG00000144824 | Q86SQ0 | Pleckstrin homology-like domain family B member 2 | gwas |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| PHLDB2 | Pleckstrin homology-like domain family B member 2 | Seems to be involved in the assembly of the postsynaptic apparatus. |
Protein-family classification
Druggable: 0 · Difficult: 1 · Unknown: 1 · 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 |
|---|---|---|---|
| Scaffold/PPI | 1 | 8.6× | 0.225 |
| Other/Unknown | 1 | 0.9× | 0.805 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| TAGLN2 | Other/Unknown | no | Calponin_repeat, CH_dom, SM22_calponin | |
| PHLDB2 | Scaffold/PPI | no | PH_domain, PH-like_dom_sf, PHLDB1/2/3_PH |
Expression context
Cohort genes with no expression data: 0.
2 cohort genes 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) | 2 |
| unknown | 0 |
Top tissues across cohort
| Tissue | Cohort genes |
|---|---|
| monocyte | 1 |
| right lung | 1 |
| upper lobe of left lung | 1 |
| cauda epididymis | 1 |
| kidney epithelium | 1 |
| left ventricle myocardium | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| TAGLN2 | 260 | ubiquitous | marker | upper lobe of left lung, monocyte, right lung |
| PHLDB2 | 249 | ubiquitous | marker | left ventricle myocardium, kidney epithelium, cauda epididymis |
Protein interactions among cohort
Intra-cohort edges: 0.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| TAGLN2 | 4,271 |
| PHLDB2 | 995 |
Structural data
PDB: 2 · AlphaFold-only: 0 · No structure: 0
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| PHLDB2 | Q86SQ0 | 3 |
| TAGLN2 | P37802 | 1 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 4. Enrichment computed across 2 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 |
|---|---|---|---|---|
| Response to elevated platelet cytosolic Ca2+ | 1 | 163.1× | 0.015 | TAGLN2 |
| Platelet activation, signaling and aggregation | 1 | 105.7× | 0.015 | TAGLN2 |
| Platelet degranulation | 1 | 87.8× | 0.015 | TAGLN2 |
| Hemostasis | 1 | 36.0× | 0.028 | TAGLN2 |
GO biological processes by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 2 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| GO term | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| negative regulation of wound healing, spreading of epidermal cells | 1 | 1203.7× | 0.008 | PHLDB2 |
| negative regulation of focal adhesion assembly | 1 | 383.0× | 0.009 | PHLDB2 |
| negative regulation of stress fiber assembly | 1 | 290.6× | 0.009 | PHLDB2 |
| basement membrane organization | 1 | 255.3× | 0.009 | PHLDB2 |
| establishment of protein localization | 1 | 216.1× | 0.009 | PHLDB2 |
| establishment of cell polarity | 1 | 191.5× | 0.009 | PHLDB2 |
| epithelial cell differentiation | 1 | 87.8× | 0.016 | TAGLN2 |
| microtubule cytoskeleton organization | 1 | 60.6× | 0.019 | PHLDB2 |
| actin filament organization | 1 | 59.3× | 0.019 | TAGLN2 |
| cell migration | 1 | 30.8× | 0.032 | PHLDB2 |
Therapeutics
Drug target analysis
Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 2
Druggability breadth: 1 of 2 evidence-associated genes (50%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).
Top cohort targets by molecule count
| Symbol | Molecules | Max phase |
|---|---|---|
| TAGLN2 | 0 | 0 |
| PHLDB2 | 0 | 0 |
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 0.
Cohort genes with ChEMBL bioactivity (full, sorted by assay count)
| Symbol | Assays | Type breakdown |
|---|---|---|
| TAGLN2 | 1 | Binding:1 |
Pharmacogenomics
Cohort genes with a PharmGKB record: 2; 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 | 2 | TAGLN2, PHLDB2 |
Undrugged target profiles
2 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).
| Symbol | ChEMBL assays | Drugged partners (top 3) |
|---|---|---|
| TAGLN2 | 1 | — |
| PHLDB2 | 0 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 8.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 5 |
| PHASE2 | 1 |
| PHASE1/PHASE2 | 1 |
| PHASE1 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT01442363 | PHASE2 | TERMINATED | A Safety and Efficacy Study of BLI-1300 Ointment in Symptomatic Perianal Crohn’s Disease |
| NCT04519671 | PHASE1/PHASE2 | TERMINATED | Mesenchymal Stem Cells for the Treatment of Perianal Fistulizing Crohn’s Disease |
| NCT01915927 | PHASE1 | COMPLETED | Stem Cell Fistula Plug in Perianal Crohn’s Disease |
| NCT07519850 | Not specified | RECRUITING | The Impact of Perianal Disease on Patient’s Sex Life |
| NCT03654482 | Not specified | COMPLETED | SuperSeton Pilot Studie |
| NCT03994224 | Not specified | TERMINATED | A Prospective Longitudinal Study of Fecal Microbiome and Calprotectin to Predict Response to Biological Therapy in Patients With CD |
| NCT04129723 | Not specified | WITHDRAWN | Stopping Biological Therapy in PCD Study |
| NCT05709717 | Not specified | UNKNOWN | Regenerative Therapy With Autologous Stromal Vascular Fraction Derived Mesenchymal Stem Cells and Platelet-rich Plasma to Treat Complex Perianal Diseases |