Cerebroretinal microangiopathy with calcifications and cysts 2
diseaseOn this page
Also known as cerebroretinal microangiopathy with calcifications and cysts type 2Coats plus syndrome caused by mutation in STN1CRMCC2STN1 Coats plus syndrome
Summary
Cerebroretinal microangiopathy with calcifications and cysts 2 (MONDO:0015026) is a disease caused by STN1 (GenCC Strong), with 1 cohort gene.
At a glance
- Causal gene: STN1 (GenCC Strong)
- Cohort genes: 1
- ClinVar variants: 12
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | cerebroretinal microangiopathy with calcifications and cysts 2 |
| Mondo ID | MONDO:0015026 |
| OMIM | 617341 |
| UMLS | C4479220 |
| MedGen | 1390862 |
| GARD | 0018442 |
| Is cancer (heuristic) | no |
Also known as: cerebroretinal microangiopathy with calcifications and cysts 2 · cerebroretinal microangiopathy with calcifications and cysts type 2 · Coats plus syndrome caused by mutation in STN1 · CRMCC2 · STN1 Coats plus syndrome
Data availability: 12 ClinVar variants · 4 GenCC gene-disease records.
Disease family
Classification path: disease › human disease › disease by body system or component › nervous system disorder › congenital nervous system disorder › congenital vitreoretinal dysplasia › Coats plus syndrome › cerebroretinal microangiopathy with calcifications and cysts 2
Related subtypes (2): cerebroretinal microangiopathy with calcifications and cysts 1, cerebroretinal microangiopathy with calcifications and cysts 3
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
12 retrieved; paginated sample, class counts are floors:
6 uncertain significance, 3 benign, 1 pathogenic, 1 conflicting classifications of pathogenicity, 1 benign/likely benign
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 375591 | NM_024928.5(STN1):c.404G>C (p.Arg135Thr) | STN1 | Pathogenic | no assertion criteria provided |
| 728880 | NM_024928.5(STN1):c.793A>C (p.Ser265Arg) | STN1 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 1016833 | NM_024928.5(STN1):c.19C>T (p.Arg7Trp) | STN1 | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 1028354 | NM_024928.5(STN1):c.1100C>T (p.Ala367Val) | STN1 | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 1391941 | NM_024928.5(STN1):c.398G>A (p.Arg133Gln) | STN1 | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 2139047 | NM_024928.5(STN1):c.210T>G (p.Asp70Glu) | STN1 | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 3590585 | NM_024928.5(STN1):c.143T>C (p.Leu48Ser) | STN1 | Uncertain significance | criteria provided, single submitter |
| 375592 | NM_024928.5(STN1):c.469G>T (p.Asp157Tyr) | STN1 | Uncertain significance | criteria provided, single submitter |
| 1169155 | NM_024928.5(STN1):c.743C>G (p.Ser248Cys) | STN1 | Benign | criteria provided, multiple submitters, no conflicts |
| 1169156 | NM_024928.5(STN1):c.696G>C (p.Val232=) | STN1 | Benign | criteria provided, multiple submitters, no conflicts |
| 1169388 | NM_024928.5(STN1):c.451A>G (p.Thr151Ala) | STN1 | Benign | criteria provided, multiple submitters, no conflicts |
| 768387 | NM_024928.5(STN1):c.582-4G>A | STN1 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 5 · Orphanet: 2 · 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 |
|---|---|---|---|---|
| STN1 | Strong | Autosomal recessive | cerebroretinal microangiopathy with calcifications and cysts 2 | 5 |
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| STN1 | Orphanet:2032 | Idiopathic pulmonary fibrosis |
| STN1 | Orphanet:313838 | Coats plus syndrome |
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 |
|---|---|---|---|---|---|
| STN1 | HGNC:26200 | ENSG00000107960 | Q9H668 | CST complex subunit STN1 | gencc,clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| STN1 | CST complex subunit STN1 | Component of the CST complex proposed to act as a specialized replication factor promoting DNA replication under conditions of replication stress or natural replication barriers such as the telomere duplex. |
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) |
|---|---|---|---|---|
| STN1 | Other/Unknown | no | NA-bd_OB_tRNA, NA-bd_OB-fold, Stn1 |
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 |
|---|---|
| esophagus mucosa | 1 |
| lower esophagus mucosa | 1 |
| oral cavity | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| STN1 | 284 | ubiquitous | marker | lower esophagus mucosa, oral cavity, esophagus mucosa |
Protein interactions among cohort
Intra-cohort edges: 0.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| STN1 | 1,863 |
Structural data
PDB: 1 · AlphaFold-only: 0 · No structure: 0
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| STN1 | Q9H668 | 8 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 7. 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 |
|---|---|---|---|---|
| Telomere C-strand synthesis initiation | 1 | 815.7× | 0.004 | STN1 |
| Telomere C-strand (Lagging Strand) Synthesis | 1 | 761.3× | 0.004 | STN1 |
| Extension of Telomeres | 1 | 601.0× | 0.004 | STN1 |
| Polymerase switching on the C-strand of the telomere | 1 | 423.0× | 0.004 | STN1 |
| Telomere Maintenance | 1 | 368.4× | 0.004 | STN1 |
| Chromosome Maintenance | 1 | 211.5× | 0.006 | STN1 |
| Cell Cycle | 1 | 36.0× | 0.028 | STN1 |
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 |
|---|---|---|---|---|
| telomere maintenance via telomere lengthening | 1 | 1872.4× | 0.002 | STN1 |
| telomere capping | 1 | 1296.3× | 0.002 | STN1 |
| negative regulation of telomere maintenance via telomerase | 1 | 732.7× | 0.002 | STN1 |
| positive regulation of DNA replication | 1 | 581.1× | 0.002 | STN1 |
| telomere maintenance | 1 | 267.5× | 0.004 | STN1 |
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 |
|---|---|---|
| STN1 | 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 | STN1 |
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) |
|---|---|---|
| STN1 | 0 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
- Cohort genes: STN1