Butterfly-shaped pigment dystrophy
Synonyms: Butterfly-shaped pattern dystrophy · Butterfly-shaped pigmentary macular dystrophy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
A rare patterned dystrophy of the retinal pigment epithelium characterized by abnormal accumulation of lipofuscin in a butterfly-shaped distribution at the retinal pigment epithelium level. Patients manifest with a slowly progressive loss of vision that often only becomes apparent in old age.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Butterfly-shaped pigment dystrophy | Butterfly-shaped pattern dystrophy · Butterfly-shaped pigmentary macular dystrophy |
| fr | Dystrophie maculaire en ailes de papillon | |
| de | Pigmentdystrophie, schmetterlingsförmige | Makuladystrophie, schmetterlingsförmige · Schmetterlingsförmige Musterdystrophie |
| es | Distrofia pigmentaria en alas de mariposa | Distrofia en patrón en forma de mariposa · Distrofia macular pigmentaria en forma de mariposa |
| it | Distrofia pigmentaria a farfalla | Distrofia con pattern a farfalla · Distrofia maculare pigmentaria a farfalla |
| nl | Vlindervormige pigmentdystrofie | Dystrofie met vlindervormig patroon · Vlindervormige pigmentdystrofie van macula |
| pt | Distrofia pigmentosa em forma de borboleta | Distrofia em padrão em forma de borboleta · Distrofia macular pigmentosa em forma de borboleta |
| pl | Dystrofia barwnikowa w kształcie motyla | = en |
| cs | Motýlovitá pigmentová dystrofie | Motýlovitá vzorovaná dystrofie · Motýlovitá pigmentová makulární dystrofie |
| uk | Метеликоподібна пігментна дистрофія | Дистрофія метеликоподібного малюнка · Пігментна макулодистрофія у формі метелика |
| zh | 蝶形色素营养不良 | 蝶状色素性黄斑营养不良 |
| tr | Kelebek şekilli pigment distrofisi | Kelebek şeklindeki desen distrofi · Kelebek şeklindeki pigmenter maküler distrofi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 169150 | BTNT | validated | |
| OMIM | 608970 | BTNT | validated | |
| OMIM | 610125 | NTBT | validated | |
| ICD-10 | H35.5 | NTBT | attributed | validated |
| ICD-11 | 9B70 | NTBT | index | validated |
| MONDO | 0100466 | E | validated | |
| UMLS | C4511237 | 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 (1):
- ORPHA:63454Pattern dystrophy
rare genetic diseases; rare ophthalmic disorders
No children.
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CTNNA1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2509 | ENSG00000044115 | 116805 | 5q31.2 | catenin alpha 1 | 26691986[PMID] |
| OTX2 | Disease-causing germline mutation(s) in | Assessed | HGNC:8522 | ENSG00000165588 | 600037 | 14q22.3 | orthodenticle homeobox 2 | 25293953[PMID] |
| PRPH2 | Disease-causing germline mutation(s) in | Assessed | HGNC:9942 | ENSG00000112619 | 179605 | 6p21.1 | peripherin 2 | 8485574[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 33 cases | Worldwide | Case(s) | Validated | 22466463[PMID]_22577225[PMID]_24167467[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 22466463[PMID]_22577225[PMID]_24167467[PMID]_ORPHANET |
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/99001
- This record as JSON: /data/d/99001.json