Anisometropia

Summary

Anisometropia (MONDO:0001478) is a disease with 1 cohort gene and 14 clinical trials. Top therapeutic interventions include atropine.

At a glance

• Cohort genes: 1
• ClinVar variants: 2
• Clinical trials: 14

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	anisometropia
Mondo ID	MONDO:0001478
MeSH	D015858
DOID	DOID:12273
ICD-10-CM	H52.31
ICD-11	386251928
SNOMED CT	3289004
UMLS	C0003081
MedGen	8099
Is cancer (heuristic)	no

Also known as: anisometropia · anisometropia (disease)

Data availability: 2 ClinVar variants · 1 HPO phenotype.

Disease family

Classification path: disease › human disease › disease by body system or component › disorder of orbital region › eye disorder › refractive error › anisometropia

Related subtypes (6): aniseikonia, presbyopia, myopia, transient refractive change, hyperopia, astigmatism

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

2 retrieved; paginated sample, class counts are floors:

2 pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
1173069	NM_005916.5(MCM7):c.776G>C (p.Gly259Ala)	MCM7	Pathogenic	criteria provided, multiple submitters, no conflicts
1804007	NM_005916.5(MCM7):c.133C>T (p.Gln45Ter)	MCM7	Pathogenic	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 1 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
MCM7	Orphanet:2512	Autosomal recessive primary microcephaly

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
MCM7	HGNC:6950	ENSG00000166508	P33993	DNA replication licensing factor MCM7	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
MCM7	DNA replication licensing factor MCM7	Acts as a component of the MCM2-7 complex (MCM complex) which is the replicative helicase essential for ‘once per cell cycle’ DNA replication initiation and elongation in eukaryotic cells.

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)
MCM7	Other/Unknown	no		MCM_dom, AAA+_ATPase, MCM7

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
embryo	1
ganglionic eminence	1
ventricular zone	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
MCM7	143	ubiquitous	marker	embryo, ganglionic eminence, ventricular zone

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
MCM7	5,413

Structural data

PDB: 1 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
MCM7	P33993	28

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 17. 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
DNA strand elongation	1	1142.0×	0.008	MCM7
Unwinding of DNA	1	878.5×	0.008	MCM7
Activation of the pre-replicative complex	1	326.3×	0.008	MCM7
DNA Replication Pre-Initiation	1	317.2×	0.008	MCM7
Activation of ATR in response to replication stress	1	300.5×	0.008	MCM7
Switching of origins to a post-replicative state	1	300.5×	0.008	MCM7
Synthesis of DNA	1	300.5×	0.008	MCM7
DNA Replication	1	237.9×	0.008	MCM7
G1/S Transition	1	233.1×	0.008	MCM7
Mitotic G1 phase and G1/S transition	1	184.2×	0.008	MCM7
S Phase	1	181.3×	0.008	MCM7
Orc1 removal from chromatin	1	178.4×	0.008	MCM7
Assembly of the pre-replicative complex	1	139.3×	0.009	MCM7
G2/M Checkpoints	1	134.3×	0.009	MCM7
Cell Cycle Checkpoints	1	88.5×	0.013	MCM7
Cell Cycle, Mitotic	1	48.2×	0.022	MCM7
Cell Cycle	1	36.0×	0.028	MCM7

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
regulation of phosphorylation	1	2808.7×	0.002	MCM7
DNA strand elongation involved in DNA replication	1	1872.4×	0.002	MCM7
double-strand break repair via break-induced replication	1	1296.3×	0.002	MCM7
regulation of DNA-templated DNA replication initiation	1	1053.2×	0.002	MCM7
DNA replication initiation	1	624.1×	0.003	MCM7
cellular response to epidermal growth factor stimulus	1	318.0×	0.005	MCM7
cellular response to xenobiotic stimulus	1	240.7×	0.006	MCM7
DNA replication	1	165.2×	0.008	MCM7
cell population proliferation	1	102.8×	0.011	MCM7
DNA damage response	1	53.5×	0.019	MCM7

Therapeutics

Drugs indicated or in trials for this disease

No drug has an approved disease-direct ChEMBL indication for this disease.

1 drug in clinical trials for this disease (phase 2–3, investigational): efficacy not established — a trial record, not an indication.

Drug	Highest phase
Atropine	Phase 3

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 1

Druggability breadth: 1 of 1 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
MCM7	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
MCM7	9	Binding:9

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	MCM7

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)
MCM7	9	—

Clinical trials & evidence

Clinical trials

Clinical trials: 14.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	11
PHASE4	1
PHASE3	1
PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT00800774	PHASE4	COMPLETED	Ten-year Follow-up of Laser in Situ Keratomileusis in Patients 8 to 15 Years Old
NCT00001864	PHASE3	COMPLETED	Amblyopia (Lazy Eye) Treatment Study
NCT02246556	PHASE1	TERMINATED	Dichoptic Virtual Reality Therapy for Amblyopia in Adults
NCT06744478	Not specified	ENROLLING_BY_INVITATION	Assessing the Magnitude of Anisometropia in Patients Wearing Misight 1 Day Contact Lens
NCT07142928	Not specified	NOT_YET_RECRUITING	Effect of Light-Blocking Lenses on Hyperopic Anisometropic Children
NCT07533149	Not specified	NOT_YET_RECRUITING	Targeted Lens Intervention for Myopic Anisometropia in Children
NCT00658502	Not specified	UNKNOWN	Ocular Response Analyzer Assessment of Intraocular Pressure and Corneal Biomechanical Properties in Myopic and Anisometropic Patients Under Atropine Treatment
NCT01430247	Not specified	COMPLETED	Vision Screening for the Detection of Amblyopia
NCT02799836	Not specified	WITHDRAWN	The Effect of Light Deprivation on Visual Functions in Adult Amblyopes
NCT03610997	Not specified	TERMINATED	Photorefractive Keratectomy for Severe Anisometropia and Isoametropia Associated With Amblyopia
NCT04068129	Not specified	COMPLETED	Enhanced Housing Photoscreeners 2WIN and GoCheckKids Compared in Burma and Alaska
NCT04302701	Not specified	UNKNOWN	Dichoptic Treatment vs. Patching for Moderate Anisometropic Amblyopia
NCT05204069	Not specified	COMPLETED	Screening for 3-D Visual Disorders in Preschool Children
NCT05259163	Not specified	COMPLETED	LFR-260 vs Traditional Phoropter in Visual Acuity Testing

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
ATROPINE	4	1
CHEMBL4557433	0	1