Combined hamartoma of the retina and retinal pigment epithelium
disease diseaseOn this page
Also known as CHR-RPEcombined hamartoma of the retina and RPE
Summary
Combined hamartoma of the retina and retinal pigment epithelium (MONDO:0018607) is a disease. A subtype of eye neoplasm — 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): 7
Clinical features
Epidemiology
Prevalence records
2 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Cases/families | 120 | Worldwide | Validated | |
| Point prevalence | <1 / 1 000 000 | Worldwide | Validated |
Signs & symptoms
Clinical features (HPO)
7 HPO clinical features (Orphanet curated; top 7 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000577 | Exotropia | Very frequent (80-99%) |
| HP:0000618 | Blindness | Very frequent (80-99%) |
| HP:0000579 | Nasolacrimal duct obstruction | Occasional (5-29%) |
| HP:0007663 | Reduced visual acuity | Occasional (5-29%) |
| HP:0007773 | Vitreoretinopathy | Occasional (5-29%) |
| HP:0012795 | Abnormality of the optic disc | Occasional (5-29%) |
| HP:0012841 | Retinal vascular tortuosity | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | combined hamartoma of the retina and retinal pigment epithelium |
| Mondo ID | MONDO:0018607 |
| Orphanet | 440727 |
| NCIT | C174548 |
| UMLS | C1862062 |
| MedGen | 396281 |
| GARD | 0021843 |
| Is cancer (heuristic) | no |
Also known as: CHR-RPE · combined hamartoma of the retina and RPE
Disease family
This is a subtype of eye neoplasm. 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 › eye neoplasm › combined hamartoma of the retina and retinal pigment epithelium
Related subtypes (12): eyelid neoplasm, ocular cancer, ring dermoid of cornea, intraocular medulloepithelioma, orbital leiomyoma, conjunctival tumor, lacrimal gland neoplasm, uvea neoplasm, retina neoplasm, cornea neoplasm, benign neoplasm of eye, ocular surface squamous neoplasia
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.