Cornea plana 2
diseaseOn this page
Also known as CNA2cornea plana caused by mutation in KERAcornea plana type 2KERA cornea plana
Summary
Cornea plana 2 (MONDO:0009014) is a disease caused by KERA (GenCC Strong), with 1 cohort gene.
At a glance
- Causal gene: KERA (GenCC Strong)
- Cohort genes: 1
- ClinVar variants: 15
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | cornea plana 2 |
| Mondo ID | MONDO:0009014 |
| MeSH | C565677 |
| OMIM | 217300 |
| UMLS | C1857574 |
| MedGen | 346616 |
| GARD | 0018050 |
| Is cancer (heuristic) | no |
Also known as: CNA2 · cornea plana 2 · cornea plana caused by mutation in KERA · cornea plana type 2 · KERA cornea plana
Data availability: 15 ClinVar variants · 3 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 › cornea plana › cornea plana 2
Related subtypes (1): cornea plana 1, autosomal dominant
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
15 retrieved; paginated sample, class counts are floors:
6 pathogenic, 4 likely pathogenic, 3 uncertain significance, 1 benign, 1 conflicting classifications of pathogenicity
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 225521 | NM_007035.4(KERA):c.320T>G (p.Ile107Arg) | KERA | Pathogenic | no assertion criteria provided |
| 56550 | NM_007035.4(KERA):c.835C>T (p.Arg279Ter) | KERA | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 6519 | NM_007035.4(KERA):c.740A>G (p.Asn247Ser) | KERA | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 6520 | NM_007035.4(KERA):c.520C>T (p.Gln174Ter) | KERA | Pathogenic | no assertion criteria provided |
| 6521 | NM_007035.4(KERA):c.644C>A (p.Thr215Lys) | KERA | Pathogenic | no assertion criteria provided |
| 6522 | NM_007035.4(KERA):c.937C>T (p.Arg313Ter) | KERA | Pathogenic | criteria provided, single submitter |
| 3779786 | NM_007035.4(KERA):c.242A>G (p.Asn81Ser) | KERA | Likely pathogenic | criteria provided, single submitter |
| 4087749 | NM_007035.4(KERA):c.38_41del (p.Leu12_Phe13insTer) | KERA | Likely pathogenic | criteria provided, single submitter |
| 4531440 | NM_007035.4(KERA):c.528C>G (p.Asn176Lys) | KERA | Likely pathogenic | criteria provided, single submitter |
| 56549 | NM_007035.4(KERA):c.391A>G (p.Asn131Asp) | KERA | Likely pathogenic | no assertion criteria provided |
| 56548 | NM_007035.4(KERA):c.1026del (p.Cys343fs) | KERA | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 1687461 | NM_007035.4(KERA):c.623C>G (p.Pro208Arg) | KERA | Uncertain significance | criteria provided, single submitter |
| 2628327 | NM_007035.4(KERA):c.331G>A (p.Gly111Arg) | KERA | Uncertain significance | criteria provided, single submitter |
| 2628328 | NM_007035.4(KERA):c.229T>C (p.Tyr77His) | KERA | Uncertain significance | criteria provided, single submitter |
| 1174695 | NM_007035.4(KERA):c.69G>A (p.Val23=) | KERA | Benign | criteria provided, multiple submitters, no conflicts |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 5 · 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 |
|---|---|---|---|---|
| KERA | Definitive | Autosomal recessive | cornea plana | 5 |
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| KERA | Orphanet:53691 | Congenital cornea plana |
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 |
|---|---|---|---|---|---|
| KERA | HGNC:6309 | ENSG00000139330 | O60938 | Keratocan | gencc,clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| KERA | Keratocan | May be important in developing and maintaining corneal transparency and for the structure of the stromal matrix. |
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) |
|---|---|---|---|---|
| KERA | Other/Unknown | no | LRRNT, Leu-rich_rpt, Leu-rich_rpt_typical-subtyp |
Expression context
Cohort genes with no expression data: 0.
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 |
|---|---|
| calcaneal tendon | 1 |
| male germ line stem cell (sensu Vertebrata) in testis | 1 |
| tendon | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| KERA | 85 | tissue_specific | yes | calcaneal tendon, male germ line stem cell (sensu Vertebrata) in testis, tendon |
Protein interactions among cohort
Intra-cohort edges: 0.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| KERA | 1,184 |
Structural data
PDB: 0 · AlphaFold-only: 1 · No structure: 0
AlphaFold-only cohort genes (top 30 by pLDDT)
| Symbol | UniProt | pLDDT |
|---|---|---|
| KERA | O60938 | 87.42 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 13. 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 |
|---|---|---|---|---|
| Defective CHST6 causes MCDC1 | 1 | 1427.5× | 0.003 | KERA |
| Defective ST3GAL3 causes MCT12 and EIEE15 | 1 | 1427.5× | 0.003 | KERA |
| Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) | 1 | 1427.5× | 0.003 | KERA |
| Diseases associated with glycosaminoglycan metabolism | 1 | 761.3× | 0.004 | KERA |
| Keratan sulfate degradation | 1 | 713.8× | 0.004 | KERA |
| Keratan sulfate/keratin metabolism | 1 | 496.5× | 0.004 | KERA |
| Keratan sulfate biosynthesis | 1 | 380.7× | 0.005 | KERA |
| Glycosaminoglycan metabolism | 1 | 219.6× | 0.007 | KERA |
| Diseases of glycosylation | 1 | 131.3× | 0.011 | KERA |
| Metabolism of carbohydrates and carbohydrate derivatives | 1 | 120.2× | 0.011 | KERA |
| Diseases of metabolism | 1 | 80.4× | 0.015 | KERA |
| Disease | 1 | 13.1× | 0.083 | KERA |
| Metabolism | 1 | 11.6× | 0.086 | KERA |
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 |
|---|---|---|---|---|
| cornea development in camera-type eye | 1 | 1296.3× | 0.002 | KERA |
| visual perception | 1 | 79.5× | 0.013 | KERA |
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 |
|---|---|---|
| KERA | 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 | KERA |
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) |
|---|---|---|
| KERA | 0 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
- Cohort genes: KERA