ORPHA:49382
Achromatopsia
Synonyms: ACHM · Complete or incomplete color blindness · Pingelapese blindness · Rod monochromacy · Rod monochromatism · Total color blindness
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare autosomal recessive retinal disorder characterized by color blindness, nystagmus, photophobia, and severely reduced visual acuity due to the absence or impairment of cone function.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Achromatopsia | ACHM · Complete or incomplete color blindness · Pingelapese blindness · Rod monochromacy · Rod monochromatism · Total color blindness |
| fr | Achromatopsie | ACHM · Achromatie · Achromatopsie complète · Cécité de Pingelap · Monochromatie à bâtonnets |
| de | Achromatopsie | ACHM · Farbenblindheit, komplette oder inkomplette · Farbenblindheit, totale · Pingelapesische Blindheit · Stäbchenmonochromasie |
| es | Acromatopsia | ACHM · Ceguera al color completa o incompleta · Ceguera para los colores de Pingelap · Ceguera total al color · Monocromacia de bastones · Monocromatismo de bastones |
| it | Acromatopsia | ACHM · Cecità completa o incompleta ai colori · Cecità pingelapese · Cecità totale ai colori · Monocromasia dei bastoncelli · Monocromatismo dei bastoncelli |
| nl | Achromatopsie | ACHM · Pingelapese blindheid · Staafjesmonochromatie · Staafjesmonochromatisme · Totale kleurenblindheid · Volledige of onvolledige kleurenblindheid |
| pt | Acromatópsia | ACHM · Cegueira de cor completa ou incompleta |
| pl | Achromatopsja | ACHM · Całkowita lub niecałkowita ślepota barw · Całkowita ślepota barw · Monochromacja czopków |
| cs | Achromatopsie | ACHM · Kompletní nebo inkompletní barvoslepost · Pingelapeská slepota · Totální barvoslepota · Tyčinkový monochromatismus |
| uk | Ахроматопсія | ACHM · Повний або частковий дальтонізм · Пінгелапова сліпота · Монохромність стрижня · Стрижневий монохроматизм · Тотальна дальтонізм |
| zh | 全色盲 | 完全或不完全色盲 |
| tr | Akromatopsi | ACHM · Rod monokromasi · Rod monokromatizması · Pingelapese körlüğü · Toplam renk körlüğü · Tam veya eksik renk körlüğü |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 216900 | E | validated | |
| OMIM | 262300 | BTNT | validated | |
| OMIM | 610024 | BTNT | validated | |
| OMIM | 613093 | NTBT | validated | |
| OMIM | 613856 | BTNT | validated | |
| OMIM | 616517 | BTNT | validated | |
| ICD-10 | H53.5 | NTBT | inclusion | validated |
| ICD-11 | 9B70 | NTBT | index | validated |
| MONDO | 0018852 | E | validated | |
| UMLS | C0152200 | E | validated | |
| MedDRA | 10000454 | 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.
4
Genes
7 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RPGR | Candidate gene tested in | Not yet assessed | HGNC:10295 | ENSG00000156313 | 312610 | Xp11.4 | retinitis pigmentosa GTPase regulator | |
| ATF6 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:791 | ENSG00000118217 | 605537 | 1q23.3 | activating transcription factor 6 | 26029869[PMID]_26063662[PMID] |
| CNGA3 | Disease-causing germline mutation(s) in | Assessed | HGNC:2150 | ENSG00000144191 | 600053 | 2q11.2 | cyclic nucleotide gated channel subunit alpha 3 | |
| CNGB3 | Disease-causing germline mutation(s) in | Assessed | HGNC:2153 | ENSG00000170289 | 605080 | 8q21.3 | cyclic nucleotide gated channel subunit beta 3 | |
| GNAT2 | Disease-causing germline mutation(s) in | Assessed | HGNC:4394 | ENSG00000134183 | 139340 | 1p13.3 | G protein subunit alpha transducin 2 | 12077706[PMID] |
| PDE6C | Disease-causing germline mutation(s) in | Assessed | HGNC:8787 | ENSG00000095464 | 600827 | 10q23.33 | phosphodiesterase 6C | 19615668[PMID] |
| PDE6H | Disease-causing germline mutation(s) in | Assessed | HGNC:8790 | ENSG00000139053 | 601190 | 12p12.3 | phosphodiesterase 6H |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 2.7 / 100 000 | Worldwide | Value and class | Validated | ISBN:521590531[OTHER] |
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
20 annotations · validated 2020-06-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000539 | Abnormality of refraction | |
| HP:0000551 | Color vision defect | |
| HP:0030584 | Color vision test abnormality | |
| HP:0030620 | Inner retinal layer loss on macular OCT | |
| HP:0007803 | Monochromacy | |
| HP:0012043 | Pendular nystagmus | |
| HP:0000613 | Photophobia | |
| HP:0030465 | Undetectable light-adapted electroretinogram | |
| Frequent (79-30%) | ||
| HP:0030825 | Absent foveal reflex | |
| HP:0000603 | Central scotoma | |
| HP:0000540 | Hypermetropia | |
| HP:0007750 | Hypoplasia of the fovea | |
| HP:0000545 | Myopia | |
| HP:0007663 | Reduced visual acuity | |
| Occasional (29-5%) | ||
| HP:0001103 | Abnormal macular morphology | |
| HP:0007695 | Abnormal pupillary light reflex | |
| HP:0007843 | Attenuation of retinal blood vessels | |
| HP:0025549 | Eccentric visual fixation | |
| HP:0007814 | Retinal pigment epithelial mottling | |
| Very rare (<4-1%) | ||
| HP:0007722 | Retinal pigment epithelial atrophy | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 20301591[PMID]_25637600[PMID]_29303385[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/49382
- This record as JSON: /data/d/49382.json