Age related macular degeneration 12
diseaseOn this page
Also known as age related macular degeneration type 12age-related macular degeneration caused by mutation in CX3CR1ARMD12CX3CR1 age-related macular degenerationmacular degeneration, age-related, 12macular Degeneration, age-related, type 12
Summary
Age related macular degeneration 12 (MONDO:0013420) is a disease with 1 cohort gene.
At a glance
- Cohort genes: 1
- ClinVar variants: 2
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | age related macular degeneration 12 |
| Mondo ID | MONDO:0013420 |
| OMIM | 613784 |
| DOID | DOID:0110024 |
| UMLS | C3151079 |
| MedGen | 462429 |
| GARD | 0024924 |
| Is cancer (heuristic) | no |
Also known as: age related macular degeneration type 12 · age-related macular degeneration caused by mutation in CX3CR1 · ARMD12 · CX3CR1 age-related macular degeneration · macular degeneration, age-related, 12 · macular Degeneration, age-related, type 12
Data availability: 2 ClinVar variants.
Disease family
Classification path: disease › human disease › disease by body system or component › nervous system disorder › retinal disorder › retinal degeneration › macular degeneration › degeneration of macula and posterior pole › age-related macular degeneration › age related macular degeneration 12
Related subtypes (14): wet macular degeneration, age related macular degeneration 2, age related macular degeneration 1, macular degeneration, age-related, 3, age related macular degeneration 7, age related macular degeneration 4, age related macular degeneration 9, age related macular degeneration 10, age related macular degeneration 11, age related macular degeneration 6, age related macular degeneration 8, age related macular degeneration 14, macular dystrophy with central cone involvement, dry age related macular degeneration
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
2 retrieved; paginated sample, class counts are floors:
1 pathogenic; protective; risk factor, 1 uncertain significance
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 8152 | CX3CR1:c.[841G>A;935C>T] (p.Val294Ile;Thr280Met) | Pathogenic; protective; risk factor | no assertion criteria provided | |
| 992523 | NM_001171174.1(CX3CR1):c.10C>G (p.Pro4Ala) | CX3CR1 | Uncertain significance | criteria provided, multiple submitters, no conflicts |
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 |
|---|---|---|---|---|---|
| CX3CR1 | HGNC:2558 | ENSG00000168329 | P49238 | CX3C chemokine receptor 1 | clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| CX3CR1 | CX3C chemokine receptor 1 | Receptor for the C-X3-C chemokine fractalkine (CX3CL1) present on many early leukocyte cells; CX3CR1-CX3CL1 signaling exerts distinct functions in different tissue compartments, such as immune response, inflammation, cell adhesion and chem… |
Protein-family classification
Druggable: 1 · Difficult: 0 · Unknown: 0 · Druggable fraction: 1.0
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 |
|---|---|---|---|
| GPCR | 1 | 23.9× | 0.042 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| CX3CR1 | GPCR | yes | GPCR_Rhodpsn, Chemokine_CX3CR1, GPCR_Rhodpsn_7TM |
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 |
|---|---|
| granulocyte | 1 |
| inferior vagus X ganglion | 1 |
| superior vestibular nucleus | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| CX3CR1 | 255 | broad | marker | granulocyte, inferior vagus X ganglion, superior vestibular nucleus |
Protein interactions among cohort
Intra-cohort edges: 0.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| CX3CR1 | 2,636 |
Structural data
PDB: 1 · AlphaFold-only: 0 · No structure: 0
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| CX3CR1 | P49238 | 2 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 4. 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 |
|---|---|---|---|---|
| Respiratory syncytial virus (RSV) attachment and entry | 1 | 496.5× | 0.008 | CX3CR1 |
| Chemokine receptors bind chemokines | 1 | 187.2× | 0.009 | CX3CR1 |
| RSV-host interactions | 1 | 156.4× | 0.009 | CX3CR1 |
| G alpha (i) signalling events | 1 | 39.0× | 0.026 | CX3CR1 |
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 |
|---|---|---|---|---|
| multiple spine synapse organization, single dendrite | 1 | 16852.0× | 0.001 | CX3CR1 |
| negative regulation of microglial cell mediated cytotoxicity | 1 | 16852.0× | 0.001 | CX3CR1 |
| central nervous system maturation | 1 | 8426.0× | 0.001 | CX3CR1 |
| regulation of microglial cell migration | 1 | 8426.0× | 0.001 | CX3CR1 |
| microglial cell activation involved in immune response | 1 | 3370.4× | 0.002 | CX3CR1 |
| negative regulation of hippocampal neuron apoptotic process | 1 | 3370.4× | 0.002 | CX3CR1 |
| synapse pruning | 1 | 2407.4× | 0.003 | CX3CR1 |
| autocrine signaling | 1 | 2106.5× | 0.003 | CX3CR1 |
| regulation of tumor necrosis factor production | 1 | 1685.2× | 0.003 | CX3CR1 |
| regulation of nitric oxide biosynthetic process | 1 | 1685.2× | 0.003 | CX3CR1 |
| host-mediated modulation of intestinal microbiota composition | 1 | 1532.0× | 0.003 | CX3CR1 |
| leukocyte chemotaxis | 1 | 1053.2× | 0.003 | CX3CR1 |
| synapse maturation | 1 | 936.2× | 0.003 | CX3CR1 |
| antifungal innate immune response | 1 | 936.2× | 0.003 | CX3CR1 |
| leukocyte tethering or rolling | 1 | 842.6× | 0.003 | CX3CR1 |
| positive regulation of monocyte chemotaxis | 1 | 802.5× | 0.003 | CX3CR1 |
| positive regulation of neuroblast proliferation | 1 | 581.1× | 0.004 | CX3CR1 |
| positive regulation of neurogenesis | 1 | 581.1× | 0.004 | CX3CR1 |
| negative regulation of apoptotic signaling pathway | 1 | 561.7× | 0.004 | CX3CR1 |
| negative regulation of interleukin-1 beta production | 1 | 510.7× | 0.004 | CX3CR1 |
| regulation of neurogenesis | 1 | 401.2× | 0.005 | CX3CR1 |
| cellular defense response | 1 | 318.0× | 0.006 | CX3CR1 |
| social behavior | 1 | 271.8× | 0.007 | CX3CR1 |
| regulation of synaptic plasticity | 1 | 259.3× | 0.007 | CX3CR1 |
| response to ischemia | 1 | 251.5× | 0.007 | CX3CR1 |
| response to wounding | 1 | 221.7× | 0.007 | CX3CR1 |
| cell chemotaxis | 1 | 185.2× | 0.008 | CX3CR1 |
| calcium-mediated signaling | 1 | 183.2× | 0.008 | CX3CR1 |
| modulation of chemical synaptic transmission | 1 | 183.2× | 0.008 | CX3CR1 |
| negative regulation of angiogenesis | 1 | 168.5× | 0.009 | CX3CR1 |
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 |
|---|---|
| CX3CR1 | FLUOXETINE HYDROCHLORIDE |
Top cohort targets by molecule count
| Symbol | Molecules | Max phase |
|---|---|---|
| CX3CR1 | 8 | 4 |
Drugs targeting cohort genes (top 30)
| Molecule | Max phase | Targets in cohort |
|---|---|---|
| FLUOXETINE HYDROCHLORIDE | 4 | CX3CR1 |
| SALMETEROL | 4 | CX3CR1 |
| TOLTERODINE TARTRATE | 4 | CX3CR1 |
| PIMAVANSERIN | 4 | CX3CR1 |
| ELAGOLIX SODIUM | 4 | CX3CR1 |
| PERPHENAZINE | 4 | CX3CR1 |
| AZD-8797 | 2 | CX3CR1 |
| DANIRIXIN | 2 | CX3CR1 |
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 0.
Cohort genes with ChEMBL bioactivity (full, sorted by assay count)
| Symbol | Assays | Type breakdown |
|---|---|---|
| CX3CR1 | 26 | Binding:19, Functional:7 |
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
8 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) |
|---|---|---|
| FLUOXETINE HYDROCHLORIDE | 4 | CX3CR1 |
| SALMETEROL | 4 | CX3CR1 |
| TOLTERODINE TARTRATE | 4 | CX3CR1 |
| PIMAVANSERIN | 4 | CX3CR1 |
| ELAGOLIX SODIUM | 4 | CX3CR1 |
| PERPHENAZINE | 4 | CX3CR1 |
| AZD-8797 | 2 | CX3CR1 |
| DANIRIXIN | 2 | CX3CR1 |
Druggability pyramid
Cohort genes binned by druggability tier (high → low):
| Tier | Definition | Genes | Symbols |
|---|---|---|---|
| A | Approved (phase 4 drug) | 1 | CX3CR1 |
| 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: CX3CR1