glaucoma 1, open angle, A
diseaseOn this page
Also known as glaucoma 1, open angle, type Aglaucoma 1A, primary open angleglaucoma hereditary, juvenileGLC1AJOAG1JOAG1Ajuvenile glaucoma caused by mutation in MYOCjuvenile open angle glaucoma caused by mutation in MYOCMYOC juvenile glaucomaMYOC juvenile open angle glaucomaprimary open angle glaucoma juvenile onset 1
Summary
glaucoma 1, open angle, A (MONDO:0007664) is a disease caused by MYOC (GenCC Definitive), with 1 cohort gene.
At a glance
- Causal gene: MYOC (GenCC Definitive)
- Cohort genes: 1
- ClinVar variants: 77
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | glaucoma 1, open angle, A |
| Mondo ID | MONDO:0007664 |
| MeSH | C564234 |
| OMIM | 137750 |
| UMLS | C1842028 |
| MedGen | 333974 |
| GARD | 0009485 |
| Is cancer (heuristic) | no |
Also known as: glaucoma 1, open angle, A · glaucoma 1, open angle, type A · glaucoma 1A, primary open angle · glaucoma hereditary, juvenile · GLC1A · JOAG1 · JOAG1A · juvenile glaucoma caused by mutation in MYOC · juvenile open angle glaucoma caused by mutation in MYOC · MYOC juvenile glaucoma · MYOC juvenile open angle glaucoma · primary open angle glaucoma juvenile onset 1
Data availability: 77 ClinVar variants · 4 GenCC gene-disease records.
Disease family
Classification path: disease › human disease › disease by body system or component › disorder of orbital region › eye disorder › glaucoma › open-angle glaucoma › juvenile open angle glaucoma › glaucoma 1, open angle, A
Related subtypes (5): glaucoma 1, open angle, J, glaucoma 1, open angle, K, glaucoma 1, open angle, M, glaucoma 1, open angle, N, glaucoma 1, open angle, l
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
77 retrieved; paginated sample, class counts are floors:
33 uncertain significance, 16 likely benign, 12 benign, 10 pathogenic, 6 likely pathogenic
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 1342202 | NM_000261.2(MYOC):c.1130C>T (p.Thr377Met) | MYOC | Pathogenic | reviewed by expert panel |
| 7946 | NM_000261.2(MYOC):c.1309T>C (p.Tyr437His) | MYOC | Pathogenic | reviewed by expert panel |
| 7947 | NM_000261.2(MYOC):c.1091G>T (p.Gly364Val) | MYOC | Pathogenic | reviewed by expert panel |
| 7948 | NM_000261.2(MYOC):c.1109C>T (p.Pro370Leu) | MYOC | Pathogenic | reviewed by expert panel |
| 7949 | NM_000261.2(MYOC):c.1102C>T (p.Gln368Ter) | MYOC | Pathogenic | reviewed by expert panel |
| 7951 | NM_000261.2(MYOC):c.1440C>A (p.Asn480Lys) | MYOC | Pathogenic | reviewed by expert panel |
| 7952 | NM_000261.2(MYOC):c.1099G>A (p.Gly367Arg) | MYOC | Pathogenic | reviewed by expert panel |
| 7954 | NM_000261.2(MYOC):c.1267A>G (p.Lys423Glu) | MYOC | Pathogenic | reviewed by expert panel |
| 7956 | NM_000261.2(MYOC):c.1297T>C (p.Cys433Arg) | MYOC | Pathogenic | reviewed by expert panel |
| 7960 | NM_000261.2(MYOC):c.754G>A (p.Gly252Arg) | MYOC | Pathogenic | reviewed by expert panel |
| 1173106 | NM_000261.2(MYOC):c.1435T>C (p.Tyr479His) | MYOC | Likely pathogenic | reviewed by expert panel |
| 1686792 | NM_000261.2(MYOC):c.1495A>T (p.Ile499Phe) | MYOC | Likely pathogenic | reviewed by expert panel |
| 30205 | NM_000261.2(MYOC):c.1430T>A (p.Ile477Asn) | MYOC | Likely pathogenic | reviewed by expert panel |
| 625855 | NM_000261.2(MYOC):c.1153G>A (p.Glu385Lys) | MYOC | Likely pathogenic | reviewed by expert panel |
| 7950 | NM_000261.2(MYOC):c.1430T>G (p.Ile477Ser) | MYOC | Likely pathogenic | reviewed by expert panel |
| 7961 | NM_000261.2(MYOC):c.1138G>C (p.Asp380His) | MYOC | Likely pathogenic | reviewed by expert panel |
| 1324770 | NM_000261.2(MYOC):c.604+1G>C | MYOC | Uncertain significance | reviewed by expert panel |
| 1324771 | NM_000261.2(MYOC):c.898G>T (p.Glu300Ter) | MYOC | Uncertain significance | reviewed by expert panel |
| 1686781 | NM_000261.2(MYOC):c.271C>T (p.Arg91Ter) | MYOC | Uncertain significance | reviewed by expert panel |
| 1698724 | NM_000261.2(MYOC):c.526del (p.Glu176fs) | MYOC | Uncertain significance | reviewed by expert panel |
| 1698736 | NM_000261.2(MYOC):c.844del (p.Gln282fs) | MYOC | Uncertain significance | reviewed by expert panel |
| 1698837 | NM_000261.2(MYOC):c.1288T>C (p.Phe430Leu) | MYOC | Uncertain significance | reviewed by expert panel |
| 1803197 | NM_000261.2(MYOC):c.1349A>G (p.Asn450Ser) | MYOC | Uncertain significance | reviewed by expert panel |
| 1930166 | NM_000261.2(MYOC):c.472C>T (p.Arg158Ter) | MYOC | Uncertain significance | reviewed by expert panel |
| 2671648 | NM_000261.2(MYOC):c.358del (p.Glu120fs) | MYOC | Uncertain significance | reviewed by expert panel |
| 293702 | NM_000261.2(MYOC):c.*426C>T | MYOC | Uncertain significance | criteria provided, single submitter |
| 293703 | NM_000261.2(MYOC):c.*331A>G | MYOC | Uncertain significance | criteria provided, single submitter |
| 293704 | NM_000261.2(MYOC):c.*241A>G | MYOC | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 293705 | NM_000261.2(MYOC):c.*188C>T | MYOC | Uncertain significance | criteria provided, single submitter |
| 293706 | NM_000261.2(MYOC):c.*182C>A | MYOC | Uncertain significance | criteria provided, single submitter |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 7 · 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 |
|---|---|---|---|---|
| MYOC | Definitive | Autosomal dominant | glaucoma 1, open angle, A | 7 |
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| MYOC | Orphanet:98976 | Congenital glaucoma |
| MYOC | Orphanet:98977 | Juvenile glaucoma |
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 |
|---|---|---|---|---|---|
| MYOC | HGNC:7610 | ENSG00000034971 | Q99972 | Myocilin | gencc,clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| MYOC | Myocilin | Secreted glycoprotein regulating the activation of different signaling pathways in adjacent cells to control different processes including cell adhesion, cell-matrix adhesion, cytoskeleton organization and cell migration. |
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) |
|---|---|---|---|---|
| MYOC | Other/Unknown | no | Olfac-like_dom, Olfactomedin-like_domain |
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 |
|---|---|
| calcaneal tendon | 1 |
| esophagogastric junction muscularis propria | 1 |
| mucosa of stomach | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| MYOC | 201 | tissue_specific | marker | calcaneal tendon, mucosa of stomach, esophagogastric junction muscularis propria |
Protein interactions among cohort
Intra-cohort edges: 0.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| MYOC | 1,272 |
Structural data
PDB: 1 · AlphaFold-only: 0 · No structure: 0
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| MYOC | Q99972 | 24 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 0. Enrichment computed across 1 evidence-associated genes (0 with Reactome annotation).
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 |
|---|---|---|---|---|
| skeletal muscle hypertrophy | 1 | 16852.0× | 0.001 | MYOC |
| clustering of voltage-gated sodium channels | 1 | 2407.4× | 0.003 | MYOC |
| ERBB2-ERBB3 signaling pathway | 1 | 1685.2× | 0.003 | MYOC |
| positive regulation of mitochondrial depolarization | 1 | 1685.2× | 0.003 | MYOC |
| negative regulation of cell-matrix adhesion | 1 | 887.0× | 0.003 | MYOC |
| myelination in peripheral nervous system | 1 | 887.0× | 0.003 | MYOC |
| negative regulation of Rho protein signal transduction | 1 | 766.0× | 0.003 | MYOC |
| positive regulation of focal adhesion assembly | 1 | 648.1× | 0.003 | MYOC |
| non-canonical Wnt signaling pathway | 1 | 581.1× | 0.003 | MYOC |
| negative regulation of stress fiber assembly | 1 | 581.1× | 0.003 | MYOC |
| regulation of MAPK cascade | 1 | 455.5× | 0.004 | MYOC |
| positive regulation of substrate adhesion-dependent cell spreading | 1 | 374.5× | 0.004 | MYOC |
| positive regulation of stress fiber assembly | 1 | 312.1× | 0.005 | MYOC |
| bone development | 1 | 276.3× | 0.005 | MYOC |
| positive regulation of JNK cascade | 1 | 163.6× | 0.008 | MYOC |
| neuron projection development | 1 | 122.1× | 0.010 | MYOC |
| osteoblast differentiation | 1 | 121.2× | 0.010 | MYOC |
| positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction | 1 | 78.4× | 0.014 | MYOC |
| positive regulation of cell migration | 1 | 61.7× | 0.017 | MYOC |
| signal transduction | 1 | 16.1× | 0.062 | MYOC |
Therapeutics
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 |
|---|---|---|
| MYOC | 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 |
|---|---|---|
| MYOC | 4 | Binding:4 |
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 | MYOC |
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) |
|---|---|---|
| MYOC | 4 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
- Cohort genes: MYOC