corneal dystrophy, Meesmann, 2
diseaseOn this page
Also known as MECD2
Summary
corneal dystrophy, Meesmann, 2 (MONDO:0032904) is a disease caused by KRT3 (GenCC Strong), with 1 cohort gene.
At a glance
- Causal gene: KRT3 (GenCC Strong)
- Cohort genes: 1
- ClinVar variants: 8
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | corneal dystrophy, Meesmann, 2 |
| Mondo ID | MONDO:0032904 |
| OMIM | 618767 |
| DOID | DOID:0080671 |
| UMLS | C5231495 |
| MedGen | 1684798 |
| GARD | 0025769 |
| Is cancer (heuristic) | no |
Also known as: MECD2
Data availability: 8 ClinVar variants · 2 GenCC gene-disease records.
Disease family
Classification path: disease › human disease › disease by body system or component › disorder of orbital region › eye disorder › corneal disorder › corneal dystrophy › epithelial and subepithelial corneal dystrophy › Meesmann corneal dystrophy › corneal dystrophy, Meesmann, 2
Related subtypes (1): corneal dystrophy, Meesmann, 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
8 retrieved; paginated sample, class counts are floors:
3 pathogenic, 3 uncertain significance, 2 likely pathogenic
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 14632 | NM_057088.3(KRT3):c.1525G>A (p.Glu509Lys) | KRT3 | Pathogenic | criteria provided, single submitter |
| 66748 | NM_057088.3(KRT3):c.1493A>T (p.Glu498Val) | KRT3 | Pathogenic | no assertion criteria provided |
| 66749 | NM_057088.3(KRT3):c.1508G>C (p.Arg503Pro) | KRT3 | Pathogenic | no assertion criteria provided |
| 2628033 | NM_057088.3(KRT3):c.1527G>T (p.Glu509Asp) | KRT3 | Likely pathogenic | criteria provided, single submitter |
| 1213856 | NM_057088.3(KRT3):c.1492G>A (p.Glu498Lys) | LOC126861527 | Likely pathogenic | criteria provided, single submitter |
| 3289405 | NM_057088.3(KRT3):c.836T>C (p.Met279Thr) | KRT3 | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 3606754 | NM_057088.3(KRT3):c.332G>A (p.Gly111Asp) | KRT3 | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 3891526 | NM_057088.3(KRT3):c.398G>A (p.Gly133Glu) | KRT3 | Uncertain significance | criteria provided, single submitter |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 4 · Orphanet: 1 · 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 |
|---|---|---|---|---|
| KRT3 | Strong | Autosomal dominant | corneal dystrophy, Meesmann, 1 | 4 |
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| KRT3 | Orphanet:98954 | Meesmann corneal dystrophy |
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 |
|---|---|---|---|---|---|
| KRT3 | HGNC:6440 | ENSG00000186442 | P12035 | Keratin, type II cytoskeletal 3 | gencc,clinvar |
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) |
|---|---|---|---|---|
| KRT3 | Other/Unknown | no | Keratin_II, IF_conserved, Keratin_2_head |
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 |
|---|---|
| gingiva | 1 |
| gingival epithelium | 1 |
| tendon of biceps brachii | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| KRT3 | 35 | tissue_specific | marker | gingiva, gingival epithelium, tendon of biceps brachii |
Protein interactions among cohort
Intra-cohort edges: 0.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| KRT3 | 1,241 |
Structural data
PDB: 0 · AlphaFold-only: 1 · No structure: 0
AlphaFold-only cohort genes (top 30 by pLDDT)
| Symbol | UniProt | pLDDT |
|---|---|---|
| KRT3 | P12035 | 66.82 |
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 |
|---|---|---|---|---|
| Formation of the cornified envelope | 1 | 87.8× | 0.027 | KRT3 |
| Keratinization | 1 | 55.7× | 0.027 | KRT3 |
| Developmental Biology | 1 | 14.5× | 0.069 | KRT3 |
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 |
|---|---|---|---|---|
| intermediate filament cytoskeleton organization | 1 | 936.2× | 0.004 | KRT3 |
| intermediate filament organization | 1 | 240.7× | 0.006 | KRT3 |
| keratinization | 1 | 234.1× | 0.006 | KRT3 |
| epithelial cell differentiation | 1 | 175.5× | 0.006 | KRT3 |
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 |
|---|---|---|
| KRT3 | 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 | KRT3 |
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) |
|---|---|---|
| KRT3 | 0 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
- Cohort genes: KRT3