Blepharoptosis-myopia-ectopia lentis syndrome
diseaseOn this page
Also known as blepharoptosis myopia ectopia lentisdominantly inherited blepharoptosis, high myopia, and ectopia lentis
Summary
Blepharoptosis-myopia-ectopia lentis syndrome (MONDO:0007202) is a disease. A subtype of lens disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
- Phenotypes (HPO): 10
Clinical features
Epidemiology
Prevalence records
2 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Cases/families | 3 | Worldwide | Validated | |
| Point prevalence | <1 / 1 000 000 | Worldwide | Validated |
Signs & symptoms
Clinical features (HPO)
10 HPO clinical features (Orphanet curated; top 10 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000501 | Glaucoma | Very frequent (80-99%) |
| HP:0000508 | Ptosis | Very frequent (80-99%) |
| HP:0000545 | Myopia | Very frequent (80-99%) |
| HP:0001083 | Ectopia lentis | Very frequent (80-99%) |
| HP:0100540 | Palpebral edema | Frequent (30-79%) |
| HP:0100798 | Fingernail dysplasia | Frequent (30-79%) |
| HP:0000269 | Prominent occiput | Occasional (5-29%) |
| HP:0000612 | Iris coloboma | Occasional (5-29%) |
| HP:0007703 | Abnormality of retinal pigmentation | Occasional (5-29%) |
| HP:0011039 | Abnormality of the helix | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | blepharoptosis-myopia-ectopia lentis syndrome |
| Mondo ID | MONDO:0007202 |
| MeSH | C536236 |
| OMIM | 110150 |
| Orphanet | 1259 |
| SNOMED CT | 717915004 |
| UMLS | C1862259 |
| MedGen | 400006 |
| GARD | 0000912 |
| Is cancer (heuristic) | no |
Also known as: blepharoptosis myopia ectopia lentis · dominantly inherited blepharoptosis, high myopia, and ectopia lentis
Disease family
This is a subtype of lens disorder. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by body system or component › disorder of orbital region › eye disorder › lens disorder › blepharoptosis-myopia-ectopia lentis syndrome
Related subtypes (9): lens subluxation, posterior dislocation of lens, cataract, classic homocystinuria, facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome, congenital primary aphakia, ectopia lentis-chorioretinal dystrophy-myopia syndrome, isolated ectopia lentis, encephalopathy due to sulfite oxidase deficiency
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
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.