Stargardt disease 4
diseaseOn this page
Also known as PROM1 Stargardt diseaseStargardt disease caused by mutation in PROM1Stargardt disease type 4STGD4
Summary
Stargardt disease 4 (MONDO:0011370) is a disease with 1 cohort gene and 1 clinical trial.
At a glance
- Cohort genes: 1
- ClinVar variants: 129
- Clinical trials: 1
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | Stargardt disease 4 |
| Mondo ID | MONDO:0011370 |
| MeSH | C535521 |
| OMIM | 603786 |
| DOID | DOID:0061239 |
| UMLS | C1863534 |
| MedGen | 355004 |
| GARD | 0015359 |
| Is cancer (heuristic) | no |
Also known as: PROM1 Stargardt disease · Stargardt disease 4 · Stargardt disease caused by mutation in PROM1 · Stargardt disease type 4 · STGD4
Data availability: 129 ClinVar variants.
Disease family
Classification path: disease › human disease › disease by body system or component › nervous system disorder › retinal disorder › retinal degeneration › macular degeneration › Stargardt disease › Stargardt disease 4
Related subtypes (3): severe early-childhood-onset retinal dystrophy, Stargardt disease 3, Stargardt disease 5
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
129 retrieved; paginated sample, class counts are floors:
60 conflicting classifications of pathogenicity, 45 uncertain significance, 12 benign, 5 pathogenic/likely pathogenic, 3 benign/likely benign, 2 pathogenic, 2 likely pathogenic
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 253326 | NM_006017.3(PROM1):c.1157T>A (p.Leu386Ter) | PROM1 | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 3249011 | NM_006017.3(PROM1):c.2378T>A (p.Leu793Ter) | PROM1 | Pathogenic/Likely pathogenic | no assertion criteria provided |
| 3780492 | NM_006017.3(PROM1):c.154del (p.Ile52fs) | PROM1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 402237 | NM_006017.3(PROM1):c.622del (p.Thr208fs) | PROM1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 5610 | NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys) | PROM1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 809626 | NM_006017.3(PROM1):c.1142-1G>A | PROM1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 932145 | NM_006017.3(PROM1):c.734T>C (p.Leu245Pro) | PROM1 | Pathogenic | no assertion criteria provided |
| 3251979 | NM_006017.3(PROM1):c.1984-1G>A | PROM1 | Likely pathogenic | criteria provided, single submitter |
| 4686710 | NM_006017.3(PROM1):c.484_485del (p.Leu162fs) | PROM1 | Likely pathogenic | criteria provided, single submitter |
| 167535 | NM_006017.3(PROM1):c.1497C>T (p.Ile499=) | PROM1 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 191189 | NM_006017.3(PROM1):c.604C>G (p.Arg202Gly) | PROM1 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 194072 | NM_006017.3(PROM1):c.1345G>A (p.Val449Met) | PROM1 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 236524 | NM_006017.3(PROM1):c.1632G>T (p.Gly544=) | PROM1 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 287074 | NM_006017.3(PROM1):c.1928C>G (p.Ala643Gly) | PROM1 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 289314 | NM_006017.3(PROM1):c.868A>C (p.Ser290Arg) | PROM1 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 289616 | NM_006017.3(PROM1):c.2271C>T (p.Ile757=) | PROM1 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 347965 | NM_006017.3(PROM1):c.*1052G>A | PROM1 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 347967 | NM_006017.3(PROM1):c.*684C>T | PROM1 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 347971 | NM_006017.3(PROM1):c.2578A>G (p.Thr860Ala) | PROM1 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 347972 | NM_006017.3(PROM1):c.2551G>A (p.Val851Ile) | PROM1 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 347977 | NM_006017.3(PROM1):c.2364C>T (p.Ile788=) | PROM1 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 347978 | NM_006017.3(PROM1):c.2309C>A (p.Pro770His) | PROM1 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 347979 | NM_006017.3(PROM1):c.2284A>G (p.Ser762Gly) | PROM1 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 347981 | NM_006017.3(PROM1):c.2211+7C>T | PROM1 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 347984 | NM_006017.3(PROM1):c.1911+14G>A | PROM1 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 347987 | NM_006017.3(PROM1):c.1683-3C>T | PROM1 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 347988 | NM_006017.3(PROM1):c.1579-6T>C | PROM1 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 347989 | NM_006017.3(PROM1):c.1578+9G>C | PROM1 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 347990 | NM_006017.3(PROM1):c.1576C>T (p.Arg526Trp) | PROM1 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 347991 | NM_006017.3(PROM1):c.1491G>T (p.Leu497Phe) | PROM1 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 0 · Orphanet: 4 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| PROM1 | Orphanet:1872 | Cone rod dystrophy |
| PROM1 | Orphanet:319640 | Retinal macular dystrophy type 2 |
| PROM1 | Orphanet:791 | Retinitis pigmentosa |
| PROM1 | Orphanet:827 | Stargardt disease |
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 |
|---|---|---|---|---|---|
| PROM1 | HGNC:9454 | ENSG00000007062 | O43490 | Prominin-1 | clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| PROM1 | Prominin-1 | May play a role in cell differentiation, proliferation and apoptosis. |
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) |
|---|---|---|---|---|
| PROM1 | Other/Unknown | no | Prominin |
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 |
|---|---|
| bronchial epithelial cell | 1 |
| bronchus | 1 |
| epithelium of bronchus | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| PROM1 | 252 | broad | marker | bronchial epithelial cell, epithelium of bronchus, bronchus |
Protein interactions among cohort
Intra-cohort edges: 0.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| PROM1 | 3,302 |
Structural data
PDB: 0 · AlphaFold-only: 1 · No structure: 0
AlphaFold-only cohort genes (top 30 by pLDDT)
| Symbol | UniProt | pLDDT |
|---|---|---|
| PROM1 | O43490 | 85.68 |
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 |
|---|---|---|---|---|
| Developmental Lineage of Pancreatic Ductal Cells | 1 | 228.4× | 0.004 | PROM1 |
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 |
|---|---|---|---|---|
| glomerular parietal epithelial cell differentiation | 1 | 8426.0× | 6e-04 | PROM1 |
| positive regulation of nephron tubule epithelial cell differentiation | 1 | 5617.3× | 6e-04 | PROM1 |
| camera-type eye photoreceptor cell differentiation | 1 | 3370.4× | 7e-04 | PROM1 |
| retina morphogenesis in camera-type eye | 1 | 1872.4× | 9e-04 | PROM1 |
| podocyte differentiation | 1 | 1404.3× | 1e-03 | PROM1 |
| retina layer formation | 1 | 648.1× | 0.002 | PROM1 |
| photoreceptor cell maintenance | 1 | 358.6× | 0.003 | PROM1 |
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 |
|---|---|---|
| PROM1 | 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 | PROM1 |
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) |
|---|---|---|
| PROM1 | 0 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 1.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT04281732 | Not specified | UNKNOWN | Visual Performance Measures in a Virtual Reality Environment for Assessing Clinical Trial Outcomes in Those With Severely Reduced Vision |
Related Atlas pages
- Cohort genes: PROM1