Retinal macular dystrophy type 2
Synonyms: Autosomal dominant bull's-eye macular dystrophy · MCDR2 · PROM1-related retinal macular dystrophy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult
- Status
- active
Retinal macular dystrophy type 2 is a rare, genetic macular dystrophy disorder characterized by slowly progressive ''bull's eye'' maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, hematuria and recurrent miscarriages.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Retinal macular dystrophy type 2 | Autosomal dominant bull's-eye macular dystrophy · MCDR2 · PROM1-related retinal macular dystrophy |
| fr | Dystrophie maculaire rétinienne type 2 | Dystrophie maculaire rétinienne associée à PROM1 · MCDR2 |
| de | Makuladystrophie, retinale, Typ 2 | MCDR2 · PROM1-assoziierte Makuladystrophie · Autosomal-dominante Bull's-Eye-Makulopathie |
| es | Distrofia macular retiniana tipo 2 | Distrofia macular en ojo de buey autosómica dominante · Distrofia macular retiniana asociada al gen PROM1 · MCDR2 |
| it | Distrofia maculare retinica tipo 2 | Distrofia maculare retinica correlata a PROM1 · MCDR2 · Distrofia maculare a occhio di toro autosomica dominante |
| nl | Retinale maculadystrofie type 2 | Autosomaal dominante 'bull's eye'-maculadystrofie · PROM1-gerelateerde retinale maculadystrofie · MCDR2 |
| pt | Distrofia macular da retina, tipo 2 | |
| pl | Dystrofia plamki siatkówki typu 2 | MCDR2 |
| cs | Retinální makulární dystrofie typ 2 | MCDR2 |
| uk | Макулодистрофія сітківки, тип 2 | MCDR2 |
| zh | 视网膜黄斑营养不良2型 | MCDR2 |
| tr | Retina maküler distrofi tip 2 | MCDR2 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608051 | E | validated | |
| ICD-10 | H35.5 | NTBT | attributed | validated |
| ICD-11 | 9B75.Y | NTBT | attributed | validated |
| MONDO | 0011957 | E | validated | |
| MeSH | C562746 | E | validated | |
| UMLS | C4749334 | 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:717336Rare genetic isolated progressive predominantly macular disorder
rare genetic diseases - ORPHA:716432Rare isolated progressive predominantly macular disorder
rare ophthalmic disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PROM1 | Disease-causing germline mutation(s) in | Assessed | HGNC:9454 | ENSG00000007062 | 604365 | 4p15.32 | prominin 1 | 20393116[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 families | Worldwide | Family(ies) | Validated | 20393116[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_20393116[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/319640
- This record as JSON: /data/d/319640.json