ORPHA:90001
X-linked cone dysfunction syndrome with myopia
Synonyms: Bornholm eye disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Childhood
- Status
- active
X-linked cone dysfunction syndrome with myopia is characterised by moderate to high myopia associated with astigmatism and deuteranopia. Less than 10 families have been described so far. Transmission is X-linked recessive and the locus has been mapped to Xq28.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked cone dysfunction syndrome with myopia | Bornholm eye disease |
| fr | Syndrome d'anomalie des cônes avec myopie lié à l'X | Maladie des yeux type Bornholm |
| de | Zapfendystrophie-Myopie-Syndrom, X-chromosomales | |
| es | Síndrome de disfunción de los conos con miopía | Enfermedad ocular de Bornholm |
| it | Sindrome da disfunzione dei coni con miopia, legata all'X | Malattia oculare, tipo Bornholm |
| nl | X-gebonden kegeldisfunctiesyndroom met myopie | Bornholm-oogziekte |
| pt | Síndrome de disfunção dos cones com miopia ligada ao X | |
| pl | Zespół dysfunkcji czopków sprzężony z chromosomem X z miopią | Choroba oczu Bornholma |
| cs | X-vázaný syndrom dysfunkce čípků s myopií | Bornholmská nemoc oka |
| uk | Х-зчеплений синдром дисфункції колбочок при короткозорості | Хвороба очей Борнхольма |
| zh | X-连锁视锥细胞功能障碍综合征伴近视 | 博恩霍姆眼病 |
| tr | Miyopi ile seyreden X'e bağlı koni disfonksiyon sendromu | Bornholm göz hastalığı |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300843 | E | validated | |
| ICD-10 | H53.8 | NTBT | attributed | validated |
| ICD-11 | 9B70 | NTBT | index | validated |
| MONDO | 0010446 | E | validated | |
| MeSH | C564092 | E | validated | |
| UMLS | C3159311 | 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 (1):
- ORPHA:716367Rare isolated non-progressive generalized retinal disorder
rare genetic diseases; rare ophthalmic disorders
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| OPN1LW | Candidate gene tested in | Not yet assessed | HGNC:9936 | ENSG00000102076 | 300822 | Xq28 | opsin 1, long wave sensitive | 23322568[PMID] |
| OPN1MW | Candidate gene tested in | Not yet assessed | HGNC:4206 | ENSG00000268221 | 300821 | Xq28 | opsin 1, medium wave sensitive | 23322568[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 families | Worldwide | Family(ies) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 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.
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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/90001
- This record as JSON: /data/d/90001.json