Combined hamartoma of the retina and retinal pigment epithelium
Synonyms: CHR-RPE · Combined hamartoma of the retina and RPE
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Childhood
- Status
- active
A rare benign eye tumor characterized by the presence of glial cells, vascular tissue, and sheets of pigment epithelial cells lacking the distribution and organization of the normal retina and retinal pigment epithelium. The lesion is most commonly found unilaterally as a slightly elevated mass in a peripapillary location but can also occur in the macula or the retinal periphery. It is sometimes associated with neurofibromatosis type 1 or 2, nevoid basal cell carcinoma syndrome, or branchio-oculo-facial syndrome. Patients may be asymptomatic or present with progressive loss of vision.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Combined hamartoma of the retina and retinal pigment epithelium | CHR-RPE · Combined hamartoma of the retina and RPE |
| fr | Hamartome combiné de l'épithélium pigmentaire et de la rétine | CHR-RPE |
| de | Kombiniertes Hamartom der Retina und des retinalen Pigmentepithels | CHR-RPE · Kombiniertes Hamartom der Retina und des RPE |
| es | Hamartoma combinado de retina y epitelio pigmentario retiniano | HCR-EPR · Hamartoma combinado de retina y EPR |
| it | Amartoma combinato della retina e dell'epitelio retinico pigmentato | Amartoma combinato della retina e dell'EPR |
| nl | Gecombineerd hamartoom van retina en retinaal pigmentepitheel | Gecombineerd hamartoom van retina en RPE · CHR-RPE |
| pt | Hamartoma combinado da retina e do epitélio pigmentado da retina | |
| pl | Hamartoma siatkówki i nabłonka barwnikowego siatkówki | Hamartoma siatkówki i RPE |
| cs | Kombinovaný hamartom sítnice a retinálního pigmentového epitelu | Kombinovaný hamartom sítnice a RPE |
| uk | Комбінована гамартома сітківки та пігментного епітелію сітківки | CHR-RPE · Поєднана гамартома сітківки та RPE |
| zh | 视网膜和视网膜色素上皮联合错构瘤 | 视网膜和RPE联合错构瘤 |
| tr | Retina ve retina pigment epitelinin kombine hamartomu | CHR-RPE · Retina ve RPE'nin kombine hamartom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D31.2 | NTBT | attributed | validated |
| ICD-11 | 2F36.Y | NTBT | index | validated |
| MONDO | 0018607 | E | validated | |
| UMLS | C1862062 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:101950Rare eye tumor
rare ophthalmic disorders; rare neoplastic diseases - ORPHA:716432Rare isolated progressive predominantly macular disorder
rare ophthalmic disorders
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 120 cases | Worldwide | Case(s) | Validated | 23960997[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_23960997[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
7 annotations · validated 2016-11-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000618 | Blindness | |
| HP:0000577 | Exotropia | |
| Occasional (29-5%) | ||
| HP:0012795 | Abnormality of the optic disc | |
| HP:0000579 | Nasolacrimal duct obstruction | |
| HP:0007663 | Reduced visual acuity | |
| HP:0012841 | Retinal vascular tortuosity | |
| HP:0007773 | Vitreoretinopathy | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 23162024[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/440727
- This record as JSON: /data/d/440727.json