ORPHA:16
Blue cone monochromatism
Synonyms: Atypical X-linked achromatopsia · Blue cone monochromacy · Color blindness, blue monocone monochromatic type · S cone monochromacy · S cone monochromatism · X-linked incomplete achromatopsia
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy
- Status
- active
Blue cone monochromatism (BCM) is a recessive X-linked disease characterized by severely impaired color discrimination, low visual acuity, nystagmus, and photophobia, due to dysfunction of the red (L) and green (M) cone photoreceptors. BCM is as an incomplete form of achromatopsia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Blue cone monochromatism | Atypical X-linked achromatopsia · Blue cone monochromacy · Color blindness, blue monocone monochromatic type · S cone monochromacy · S cone monochromatism · X-linked incomplete achromatopsia |
| fr | Monochromatisme à cônes bleus | Achromatopsie atypique liée à l'X · Achromatopsie incomplète liée à l'X · Monochromatie à cônes S · Monochromatie à cônes bleus · Monochromatisme à cônes S |
| de | Blauzapfenmonochromasie | Achromatopsie, atypische X-chromosomale · Achromatopsie, inkomplette X-chromosomale · Farbenblindheit, blauer einzapfiger monochromatischer Typ · S-Zapfen-Monochromasie |
| es | Monocromatismo de conos azules | Acromatopsia atípica ligada al cromosoma X · Acromatopsia incompleta ligada al cromosoma X · Monocromacia de conos S · Monocromacia de conos azules · Monocromatismo de conos S |
| it | Monocromatismo dei coni blu | Acromatopsia atipica legata all'X · Acromatopsia incompleta legata all'X · Cecità ai colori, tipo monocromatico dei coni blu · Monocromasia dei coni S · Monocromasia dei coni blu · Monocromatismo dei coni S |
| nl | Blauwekegeltjesmonochromatisme | Atypische X-gebonden achromatopsie · Blauwekegeltjesmonochromatie · Kleurenblindheid, blauw monoconisch monochromatisch type · S-kegeltjesmonochromatie · S-kegeltjesmonochromatisme · X-gebonden onvolledige achromatopsie |
| pt | Monocromatismo de cones azuis | Acromatopsia incompleta ligada ao X · Distrofia dos cones, ligada ao X |
| pl | Monochromacja typu niebieskiego stożka | Atypowa achromatopsja sprzężona z chromosomem X · Monochromacja niebieskiego stożka · Monochromacja stożka S · Monochromatyzm stożka S · Niecałkowita achromatopsja sprzężona z chromosomem X · Ślepota barw typu monochromacji niebieskiego stożka |
| cs | Modrý čípkový monochromatismus | Atypická X-vázaná achromatopsie · Barvoslepost, modrý monochromatický typ · Modrá čípková monochromacie |
| uk | Монохроматизм синього конусу | Атипова ахроматопсія, зчеплена з Х-хромосомою · Монохромність синього конуса · Кольорова сліпота, синій моноконус монохромного типу · Монохромність S-образного конуса · Монохроматизм S-конуса · Х-зчеплена неповна ахроматопсія |
| zh | 蓝色锥体性全色盲 | 色盲，蓝色锥体性全色盲型 |
| tr | Mavi koni monokromatizması | S koni monokromasi · S koni monokromatizması · Mavi koni monokromasi · Atipik X'e bağlı akromatopsi · X'e bağlı eksik akromatopsi · Renk körlüğü, mavi monokon monokromatik tip |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 303700 | E | validated | |
| ICD-10 | H53.5 | NTBT | inclusion | validated |
| ICD-11 | 9B70 | NTBT | index | validated |
| MONDO | 0010563 | E | validated | |
| MeSH | C536238 | E | validated | |
| UMLS | C0339537 | E | validated | |
| GARD | 917 | 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 (2):
- ORPHA:98658Color-vision disease
rare genetic diseases; rare ophthalmic disorders - 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 | Disease-causing germline mutation(s) in | Assessed | HGNC:9936 | ENSG00000102076 | 300822 | Xq28 | opsin 1, long wave sensitive | 15069569[PMID] |
| OPN1MW | Disease-causing germline mutation(s) in | Assessed | HGNC:4206 | ENSG00000268221 | 300821 | Xq28 | opsin 1, medium wave sensitive | 15069569[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1 / 100 000 | Worldwide | Value and class | Validated | ISBN:9780521004398[OTHER]_[EXPERT] |
| Point prevalence | 1-9 / 100 000 | 1 / 100 000 | Worldwide | Value and class | Validated | ISBN:9780521004398[OTHER]_[EXPERT] |
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
12 annotations · validated 2024-04-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007939 | Blue cone monochromacy | |
| Frequent (79-30%) | ||
| HP:0000551 | Color vision defect | |
| HP:0025549 | Eccentric visual fixation | |
| HP:0000545 | Myopia | |
| HP:0000639 | Nystagmus | |
| HP:0030619 | Reduced OCT-measured foveal thickness | |
| Occasional (29-5%) | ||
| HP:0000512 | Abnormal electroretinogram | |
| HP:0007703 | Abnormality of retinal pigmentation | |
| HP:0001131 | Corneal dystrophy | |
| HP:0000540 | Hypermetropia | |
| HP:0000613 | Photophobia | |
| HP:0000505 | Visual impairment | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 20301591[PMID]_30578487[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/16
- This record as JSON: /data/d/16.json