Age related macular degeneration 13
diseaseOn this page
Also known as age related macular degeneration type 13age-related macular degeneration caused by mutation in CFIARMD13CFI age-related macular degenerationmacular degeneration, age-related, 13macular degeneration, age-related, 13, susceptibility tomacular degeneration, age-related, type 13
Summary
Age related macular degeneration 13 (MONDO:0014189) is a disease with 1 cohort gene.
At a glance
- Cohort genes: 1
- ClinVar variants: 140
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | age related macular degeneration 13 |
| Mondo ID | MONDO:0014189 |
| OMIM | 615439 |
| DOID | DOID:0110025 |
| UMLS | C3809523 |
| MedGen | 815853 |
| Is cancer (heuristic) | no |
Also known as: age related macular degeneration type 13 · age-related macular degeneration caused by mutation in CFI · ARMD13 · CFI age-related macular degeneration · macular degeneration, age-related, 13 · macular degeneration, age-related, 13, susceptibility to · macular degeneration, age-related, type 13
Data availability: 140 ClinVar variants · 2 GenCC gene-disease records · 4 cell lines.
Disease family
Classification path: disease susceptibility › inherited disease susceptibility › age related macular degeneration, susceptibility to › age related macular degeneration 13
Related subtypes (2): age related macular degeneration 5, age related macular degeneration 15
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
140 retrieved; paginated sample, class counts are floors:
68 uncertain significance, 29 conflicting classifications of pathogenicity, 11 likely pathogenic, 11 likely benign, 10 benign/likely benign, 6 pathogenic/likely pathogenic, 2 pathogenic, 2 likely pathogenic/pathogenic, low penetrance, 1 pathogenic/pathogenic, low penetrance
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 1066334 | NM_000204.5(CFI):c.1429+1G>C | CFI | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 1179031 | NM_000204.5(CFI):c.763_772+9delinsGTATCCAC | CFI | Pathogenic | criteria provided, single submitter |
| 12121 | NM_000204.5(CFI):c.1420C>T (p.Arg474Ter) | CFI | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 1451295 | NM_000204.5(CFI):c.772G>A (p.Ala258Thr) | CFI | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 1923366 | NM_000204.5(CFI):c.1300del (p.Glu434fs) | CFI | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 280145 | NM_000204.5(CFI):c.1176_1177dup (p.Trp393fs) | CFI | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 286534 | NM_000204.5(CFI):c.80_81del (p.Asp27fs) | CFI | Pathogenic/Pathogenic, low penetrance | criteria provided, multiple submitters, no conflicts |
| 3589772 | NM_000204.5(CFI):c.413del (p.Met138fs) | CFI | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 631934 | NM_000204.5(CFI):c.559C>T (p.Arg187Ter) | CFI | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 1179053 | NM_000204.5(CFI):c.1638G>A (p.Trp546Ter) | CFI | Likely pathogenic | criteria provided, single submitter |
| 1343352 | NM_000204.5(CFI):c.57+1G>C | CFI | Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 3589744 | NM_000204.5(CFI):c.1326dup (p.Asp443fs) | CFI | Likely pathogenic | criteria provided, single submitter |
| 3589750 | NM_000204.5(CFI):c.1122_1123insT (p.Ile375fs) | CFI | Likely pathogenic | criteria provided, single submitter |
| 3589758 | NM_000204.5(CFI):c.905-1G>C | CFI | Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 3589760 | NM_000204.5(CFI):c.773-1G>A | CFI | Likely pathogenic | criteria provided, single submitter |
| 3589761 | NM_000204.5(CFI):c.772+1G>T | CFI | Likely pathogenic | criteria provided, single submitter |
| 3589762 | NM_000204.5(CFI):c.764G>A (p.Cys255Tyr) | CFI | Likely pathogenic/Pathogenic, low penetrance | criteria provided, multiple submitters, no conflicts |
| 3589763 | NM_000204.5(CFI):c.748C>T (p.Gln250Ter) | CFI | Likely pathogenic | criteria provided, single submitter |
| 3589781 | NM_000204.5(CFI):c.57+1G>A | CFI | Likely pathogenic | criteria provided, single submitter |
| 3907689 | NM_000204.5(CFI):c.1437_1440del (p.Arg480fs) | CFI | Likely pathogenic | criteria provided, single submitter |
| 4277676 | NM_000204.5(CFI):c.1630G>A (p.Val544Met) | CFI | Likely pathogenic | criteria provided, single submitter |
| 452535 | NM_000204.5(CFI):c.1233C>A (p.Tyr411Ter) | CFI | Likely pathogenic/Pathogenic, low penetrance | criteria provided, multiple submitters, no conflicts |
| 1337881 | NM_000204.5(CFI):c.616T>A (p.Tyr206Asn) | CFI | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 1356015 | NM_000204.5(CFI):c.1216C>T (p.Arg406Cys) | CFI | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 1399319 | NM_000204.5(CFI):c.1016G>A (p.Arg339Gln) | CFI | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 1404661 | NM_000204.5(CFI):c.1025G>A (p.Gly342Glu) | CFI | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 1409197 | NM_000204.5(CFI):c.848A>G (p.Asp283Gly) | CFI | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 1426300 | NM_000204.5(CFI):c.1399T>C (p.Cys467Arg) | CFI | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 1449003 | NM_000204.5(CFI):c.1019T>C (p.Ile340Thr) | CFI | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 1489275 | NM_000204.5(CFI):c.662C>A (p.Ser221Tyr) | CFI | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 9 · Orphanet: 5 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0
GenCC gene–disease validity (cohort genes)
the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.
| Gene | Classification | Inheritance | Disease | Records |
|---|---|---|---|---|
| CFI | Limited | Autosomal dominant | age related macular degeneration 13 | 9 |
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| CFI | Orphanet:200418 | Immunodeficiency with factor I anomaly |
| CFI | Orphanet:244242 | HELLP syndrome |
| CFI | Orphanet:244275 | De novo thrombotic microangiopathy after kidney transplantation |
| CFI | Orphanet:544472 | Atypical hemolytic uremic syndrome with complement gene abnormality |
| CFI | Orphanet:75376 | Familial drusen |
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 |
|---|---|---|---|---|---|
| CFI | HGNC:5394 | ENSG00000205403 | P05156 | Complement factor I | gencc,clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| CFI | Complement factor I | Trypsin-like serine protease that plays an essential role in regulating the immune response by controlling all complement pathways. |
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 |
|---|---|---|---|
| Protease | 1 | 36.6× | 0.027 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| CFI | Protease | yes | 3.4.21.45 | SRCR, Trypsin_dom, Peptidase_S1A |
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 |
|---|---|
| germinal epithelium of ovary | 1 |
| parietal pleura | 1 |
| right lobe of liver | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| CFI | 240 | broad | marker | germinal epithelium of ovary, parietal pleura, right lobe of liver |
Protein interactions among cohort
Intra-cohort edges: 0.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| CFI | 1,120 |
Structural data
PDB: 1 · AlphaFold-only: 0 · No structure: 0
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| CFI | P05156 | 2 |
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 |
|---|---|---|---|---|
| Regulation of Complement cascade | 1 | 233.1× | 0.004 | CFI |
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 |
|---|---|---|---|---|
| complement activation, classical pathway | 1 | 543.6× | 0.006 | CFI |
| proteolysis | 1 | 34.2× | 0.030 | CFI |
| innate immune response | 1 | 33.6× | 0.030 | CFI |
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 |
|---|---|---|
| CFI | 0 | 0 |
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 1.
Cohort enzymes (BRENDA EC)
| Symbol | EC numbers | Names |
|---|---|---|
| CFI | 3.4.21.45 | complement factor I |
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 | 1 | CFI |
| D | Druggable family + AlphaFold only, no drug | 0 | |
| E | Difficult family or no structure, no drug | 0 |
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) |
|---|---|---|
| CFI | 0 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
- Cohort genes: CFI