ORPHA:88629
Tritanopia
Synonyms: Blue colour blindness · Congenital tritanopia · Tritan colour blindness
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare form of colour blindness characterized by a selective deficiency of blue vision.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Tritanopia | Blue colour blindness · Congenital tritanopia · Tritan colour blindness |
| fr | Tritanopie | Dyschromatopsie du bleu · Tritanopie congénitale |
| de | Tritanopie | Blaublindheit · Farbenblindheit, Tritan-Typ · Tritanopie, kongenitale |
| es | Tritanopía | Ceguera al color azul · Tritanopía congénita |
| it | Tritanopia | Cecità ai colori - tritan · Cecità al blu · Tritanopia congenita |
| nl | Tritanopie | Blauw-kleurenblindheid · Congenitale tritanopie · Tritan-kleurenblindheid |
| pt | Tritanopia | |
| pl | Tritanopia | Ślepota barwy niebieskiej · Wrodzona tritanopia |
| cs | Tritanopie | Nevnímání modré barvy · Vrozená tritanopie |
| uk | Тританопія | Синя дальтонізм · Вроджена тританопія · Тритановий дальтонізм |
| zh | 蓝色盲 | 第三色盲 |
| tr | Tritanopia | Mavi renk körlüğü · Doğumsal tritanopi · Tritan renk körlüğü |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 190900 | E | validated | |
| ICD-10 | H53.5 | NTBT | inclusion | validated |
| ICD-11 | 9D44 | NTBT | index | validated |
| MONDO | 0008610 | E | validated | |
| UMLS | C0155017 | 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:98658Color-vision disease
rare genetic diseases; rare ophthalmic disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| OPN1SW | Disease-causing germline mutation(s) in | Assessed | HGNC:1012 | ENSG00000128617 | 613522 | 7q32.1 | opsin 1, short wave sensitive | 1531728[PMID]_1386496[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 4.8 / 100 000 | Europe | Value and class | Not yet 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
6 annotations · validated 2020-02-13| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000479 | Abnormal retinal morphology | |
| HP:0030584 | Color vision test abnormality | |
| HP:0000552 | Tritanomaly | |
| Occasional (29-5%) | ||
| HP:0012043 | Pendular nystagmus | |
| HP:0000613 | Photophobia | |
| HP:0007663 | Reduced visual acuity | |
Annotation source: 19927164[PMID]_20301591[PMID]_17429491[PMID]_16961973[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/88629
- This record as JSON: /data/d/88629.json