Oligocone trichromacy
Synonyms: Oligocone syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood, Infancy
- Status
- active
A rare non-progressive form of cone photoreceptor dysfunction syndrome characterized by reduced visual acuity, normal fundus appearance and absent or reduced cone responses on electroretinography. In contrast to all other forms of cone dysfunction color vision is normal.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Oligocone trichromacy | Oligocone syndrome |
| fr | Oligocône trichromatie | Syndrome oligocône |
| de | Oligocone-Trichromasie | Zäpfchenmangel-Syndrom |
| es | Tricromacia oligocónica | Síndrome de oligoconos |
| it | Tricromazia oligoconica | Sindrome oligoconica |
| nl | Oligocone trichromasie | Oligocoon syndroom |
| pt | Tricomacia oligocone | Síndrome oligocone |
| pl | Trichromatyzm | = en |
| cs | Oligokonální trichromázie | Oligokonální syndrom |
| uk | Триколірність олігоконуса | Синдром олігоконуса |
| zh | 寡锥三色视 | 单一视椎细胞综合征 |
| tr | Oligokon trikromasi | Oligocone sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | H35.8 | NTBT | attributed | validated |
| ICD-11 | 9B70 | NTBT | index | validated |
| MONDO | 0019151 | E | validated | |
| UMLS | C4302876 | 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:716367Rare isolated non-progressive generalized retinal disorder
rare genetic diseases; 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 | 14 cases | Worldwide | Case(s) | Validated | 14736794[PMID]_17090894[PMID]_ [EXPERT] | |
| 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.
HPO phenotypes
2 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000512 | Abnormal electroretinogram | |
| Frequent (79-30%) | ||
| HP:0000613 | Photophobia | |
Run the differential on the 1 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/75378
- This record as JSON: /data/d/75378.json