ORPHA:75327
North Carolina macular dystrophy
Synonyms: CAPE dystrophy · CAPED · Central areolar pigment epithelial dystrophy · Central retinal pigment epithelial dystrophy · MCDR1 · NCMD · North Carolina macular dystrophy, retinal 1 · Progressive foveal dystrophy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
A non-progressive autosomal dominant macular disorder of congenital or infantile onset characterized by loss of central vision, the accumulation of drusen in the macula and atrophy of photoreceptor cells with a variable phenotype at macular examination.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | North Carolina macular dystrophy | CAPE dystrophy · CAPED · Central areolar pigment epithelial dystrophy · Central retinal pigment epithelial dystrophy · MCDR1 · NCMD · North Carolina macular dystrophy, retinal 1 · Progressive foveal dystrophy |
| fr | Dystrophie maculaire de la Caroline du Nord | Dystrophie CAPE · Dystrophie centrale aréolaire de l'épithélium pigmenté · Dystrophie fovéale progressive · Dystrophie maculaire rétinienne 1 type Caroline du Nord · Dystrophie rétinienne de l'épithélium pigmenté central · MCDR1 |
| de | North-Carolina-Makuladystrophie | CAPE · Foveadystrophie, progressive · MCDR1 · Makuladystrophie, retinale 1, Typ North Carolina · NCMD · Pigmentepitheldystrophie, retinale zentrale · Zentrale areoläre Pigmentepithel Dystrophie |
| es | Distrofia macular de Carolina del Norte | CAPED · Distrofia CAPE · Distrofia areolar central del epitelio pigmentario · Distrofia foveal progresiva · Distrofia macular de la retina tipo Carolina del Norte · Distrofia retiniana central del epitelio pigmentario · MCDR1 · NCMD |
| it | Distrofia maculare della Carolina del Nord | CAPED · Distrofia CAPE · Distrofia centrale areolare dell'epitelio pigmentato · Distrofia centrale dell'epitelio retinico pigmentato · Distrofia maculare retinica della Carolina del Nord, tipo 1 · Distrofia progressiva della fovea · MCDR1 · NCMD |
| nl | North-Carolina-maculadystrofie | CAPE-dystrofie · CAPED · Centrale areolaire pigmentepitheeldystrofie · Centrale retinale pigmentepitheeldystrofie · MCDR1 · NCMD · Progressieve foveale dystrofie · Retinale North-Carolina-maculadystrofie 1 |
| pt | Distrofia macular de Carolina do Norte | Distrofia progressiva da fóvea · MCDR1 · NCMD · CAPED · Distrofia CAPE · Distrofia epitelial do pigmento areolar central · Distrofia epitelial do pigmento retiniano central · Distrofia macular de Carolina do Norte, retiniana 1 |
| pl | Dystofia plamki z Północnej Karoliny | CAPED · Centralna barwnikowa dystrofia nabłonka siatkówki · Centralna otoczkowa barwnikowa dystrofia nabłonkowa · Dystrofia CAPE · MCDR1 · NCMD · North Carolina macular dystrophy, retinal 1 · Postępująca dystrofia dołka siatkówki |
| cs | Makulární dystrofie Severní Karolína | CAPE dystrofie · CAPED · Centrální areolární pigmentová epiteliální dystrofie · Centrální retinální pigmentová epiteliální dystrofie · MCDR1 · NCMD · Makulární dystrofie Severní Karolína, retinální 1 · Progresivní foveální dystrofie |
| uk | Макулярна дистрофія Північної Кароліни | Дистрофія CAPE · CAPED · Центральна ареолярна пігментна дистрофія епітелію · Центральна пігментна дистрофія епітелію сітківки · MCDR1 · NCMD · Макулодистрофія Північної Кароліни, сітківка 1 · Прогресуюча фовеальна дистрофія |
| zh | 北卡罗来纳黄斑营养不良 | 中央视网膜色素上皮营养不良 |
| tr | Kuzey Carolina maküler distrofi | NCMD · CAPED · MCDR1 · CAPE distrofisi · ilerleyici foveal distrofi · Kuzey Carolina maküler distrofi, retina 1 · Santral areolar pigment epitel distrofisi · Santral retina pigment epitel distrofisi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 136550 | BTNT | validated | |
| OMIM | 608850 | BTNT | validated | |
| ICD-10 | H35.5 | NTBT | attributed | validated |
| ICD-11 | 9B75.Y | NTBT | index | validated |
| MONDO | 0007630 | E | validated | |
| MeSH | C537835 | E | validated | |
| UMLS | C0730294 | E | validated | |
| GARD | 9179 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:717311Rare genetic isolated non-progressive predominantly chorioretinal disorder
rare genetic diseases - ORPHA:717330Rare genetic isolated non-progressive predominantly macular disorder
rare genetic diseases - ORPHA:716296Rare isolated non-progressive predominantly chorioretinal disorder
rare ophthalmic disorders - ORPHA:716419Rare isolated non-progressive predominantly macular disorder
rare ophthalmic disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DHS6S1 | Disease-causing germline mutation(s) in | Assessed | 616842 | 6q16.2 | DNase1 hypersensitivity, chromosome 6, site 1 | 26507665[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 families | Worldwide | Family(ies) | Validated | 21310494[PMID]_5100467[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_21310494[PMID]_5100467[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.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/75327
- This record as JSON: /data/d/75327.json