Distal trisomy 11q
disease diseaseOn this page
Also known as Chromosome 11, Partial Trisomy 11qdistal duplication 11qdistal trisomy type 11qtelomeric duplication 11qtrisomy 11qter
Summary
Distal trisomy 11q (MONDO:0019885) 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 | distal trisomy 11q |
| Mondo ID | MONDO:0019885 |
| MeSH | C538294 |
| Orphanet | 96103 |
| SNOMED CT | 764447009 |
| UMLS | C2931797 |
| MedGen | 419166 |
| GARD | 0019318 |
| NORD | 937 |
| Is cancer (heuristic) | no |
Also known as: Chromosome 11, Partial Trisomy 11q · distal duplication 11q · distal trisomy type 11q · telomeric duplication 11q · trisomy 11qter
Data availability: 1 ClinVar variant.
Disease family
Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › chromosomal disorder › syndrome caused by partial chromosomal duplication › partial duplication of chromosome 11 › chromosome 11q trisomy › distal trisomy 11q
Related subtypes (1): microtriplication 11q24.1
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 pathogenic
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 973579 | NC_000011.9:g.104288964_134937416dup | HTR3A | Pathogenic | criteria provided, single submitter |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 0 · Orphanet: 0 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0
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 |
|---|---|---|---|---|---|
| HTR3A | HGNC:5297 | ENSG00000166736 | P46098 | 5-hydroxytryptamine receptor 3A | clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| HTR3A | 5-hydroxytryptamine receptor 3A | Forms serotonin (5-hydroxytryptamine/5-HT3)-activated cation-selective channel complexes, which when activated cause fast, depolarizing responses in neurons. |
Protein-family classification
Druggable: 0 · Difficult: 0 · 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 |
|---|---|---|---|
| Other/Unknown | 1 | 1.8× | 0.558 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| HTR3A | Other/Unknown | no | Neurotrans-gated_channel_TM, Neur_channel, Neur_chan_lig-bd |
Expression context
Cohort genes with no expression data: 0.
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 |
|---|---|
| dorsal root ganglion | 1 |
| male germ line stem cell (sensu Vertebrata) in testis | 1 |
| pancreatic ductal cell | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| HTR3A | 120 | tissue_specific | yes | dorsal root ganglion, male germ line stem cell (sensu Vertebrata) in testis, pancreatic ductal cell |
Protein interactions among cohort
Intra-cohort edges: 0.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| HTR3A | 1,425 |
Structural data
PDB: 1 · AlphaFold-only: 0 · No structure: 0
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| HTR3A | P46098 | 4 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 3. 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 |
|---|---|---|---|---|
| Neurotransmitter receptors and postsynaptic signal transmission | 1 | 100.2× | 0.020 | HTR3A |
| Transmission across Chemical Synapses | 1 | 76.1× | 0.020 | HTR3A |
| Neuronal System | 1 | 44.3× | 0.023 | HTR3A |
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 |
|---|---|---|---|---|
| serotonin-gated cation-selective signaling pathway | 1 | 3370.4× | 0.002 | HTR3A |
| serotonin receptor signaling pathway | 1 | 1872.4× | 0.002 | HTR3A |
| obsolete inorganic cation transmembrane transport | 1 | 936.2× | 0.002 | HTR3A |
| regulation of membrane potential | 1 | 230.8× | 0.006 | HTR3A |
| monoatomic ion transmembrane transport | 1 | 208.1× | 0.006 | HTR3A |
| chemical synaptic transmission | 1 | 77.3× | 0.013 | HTR3A |
Therapeutics
Drug target analysis
Approved (phase 4): 1 · Phase ≥3: 1 · Phased (≥1): 1 · Undrugged: 0
Druggability breadth: 1 of 1 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).
Genes with an approved drug
The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.
| Symbol | Example approved molecule |
|---|---|
| HTR3A | VARENICLINE |
Top cohort targets by molecule count
| Symbol | Molecules | Max phase |
|---|---|---|
| HTR3A | 98 | 4 |
Drugs targeting cohort genes (top 30)
| Molecule | Max phase | Targets in cohort |
|---|---|---|
| VARENICLINE | 4 | HTR3A |
| ALOSETRON | 4 | HTR3A |
| ARIPIPRAZOLE | 4 | HTR3A |
| AMOXAPINE | 4 | HTR3A |
| IDARUBICIN | 4 | HTR3A |
| PRUCALOPRIDE | 4 | HTR3A |
| DULOXETINE | 4 | HTR3A |
| CHLOROPROCAINE | 4 | HTR3A |
| ANISOTROPINE | 4 | HTR3A |
| PALONOSETRON | 4 | HTR3A |
| THIOTHIXENE | 4 | HTR3A |
| PYRVINIUM | 4 | HTR3A |
| INDOCYANINE GREEN ACID FORM | 4 | HTR3A |
| DIPHEMANIL | 4 | HTR3A |
| BALSALAZIDE | 4 | HTR3A |
| RABEPRAZOLE | 4 | HTR3A |
| PHENAZOPYRIDINE | 4 | HTR3A |
| SUMATRIPTAN | 4 | HTR3A |
| NITAZOXANIDE | 4 | HTR3A |
| NITROXOLINE | 4 | HTR3A |
| AMLODIPINE | 4 | HTR3A |
| TEGASEROD MALEATE | 4 | HTR3A |
| KETOTIFEN FUMARATE | 4 | HTR3A |
| RAMOSETRON | 4 | HTR3A |
| OMADACYCLINE | 4 | HTR3A |
| CISAPRIDE | 4 | HTR3A |
| DAUNORUBICIN | 4 | HTR3A |
| HYDROXOCOBALAMIN | 4 | HTR3A |
| VORTIOXETINE | 4 | HTR3A |
| TELOTRISTAT ETHYL | 4 | HTR3A |
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 0.
Cohort genes with ChEMBL bioactivity (full, sorted by assay count)
| Symbol | Assays | Type breakdown |
|---|---|---|
| HTR3A | 707 | Binding:599, Functional:98, ADMET:9, Toxicity:1 |
Cohort genes with high screening signal
≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.
| Symbol | ChEMBL assays |
|---|---|
| HTR3A | 707 |
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
30 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.
| Compound | Max phase | Cohort target (bioactivity) |
|---|---|---|
| VARENICLINE | 4 | HTR3A |
| ALOSETRON | 4 | HTR3A |
| ARIPIPRAZOLE | 4 | HTR3A |
| AMOXAPINE | 4 | HTR3A |
| IDARUBICIN | 4 | HTR3A |
| PRUCALOPRIDE | 4 | HTR3A |
| DULOXETINE | 4 | HTR3A |
| CHLOROPROCAINE | 4 | HTR3A |
| ANISOTROPINE | 4 | HTR3A |
| PALONOSETRON | 4 | HTR3A |
| THIOTHIXENE | 4 | HTR3A |
| PYRVINIUM | 4 | HTR3A |
| INDOCYANINE GREEN ACID FORM | 4 | HTR3A |
| DIPHEMANIL | 4 | HTR3A |
| BALSALAZIDE | 4 | HTR3A |
| RABEPRAZOLE | 4 | HTR3A |
| PHENAZOPYRIDINE | 4 | HTR3A |
| SUMATRIPTAN | 4 | HTR3A |
| NITAZOXANIDE | 4 | HTR3A |
| NITROXOLINE | 4 | HTR3A |
| AMLODIPINE | 4 | HTR3A |
| TEGASEROD MALEATE | 4 | HTR3A |
| KETOTIFEN FUMARATE | 4 | HTR3A |
| RAMOSETRON | 4 | HTR3A |
| OMADACYCLINE | 4 | HTR3A |
| CISAPRIDE | 4 | HTR3A |
| DAUNORUBICIN | 4 | HTR3A |
| HYDROXOCOBALAMIN | 4 | HTR3A |
| VORTIOXETINE | 4 | HTR3A |
| TELOTRISTAT ETHYL | 4 | HTR3A |
Druggability pyramid
Cohort genes binned by druggability tier (high → low):
| Tier | Definition | Genes | Symbols |
|---|---|---|---|
| A | Approved (phase 4 drug) | 1 | HTR3A |
| 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 | 0 |
Undrugged target profiles
0 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
- Cohort genes: HTR3A