Autosomal dominant optic atrophy and cataract
Synonyms: Autosomal dominant optic atrophy type 3 · OPA3, autosomal dominant
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
A form of autosomal dominant optic atrophy characterized by an early and bilateral optic atrophy leading to insidious visual loss of variable severity, followed by a late anterior and/or posterior cortical cataract. Additional features include sensorineural hearing loss and neurological signs such as tremor, extrapyramidal rigidity and absence of deep tendon reflexes. It is caused by mutations in the <i>OPA3</i> gene (19q13.32).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant optic atrophy and cataract | Autosomal dominant optic atrophy type 3 · OPA3, autosomal dominant |
| fr | Syndrome d'atrophie optique-cataracte autosomique dominante | Atrophie optique type 3 autosomique dominante · OPA3, autosomique dominante |
| de | Optikusatrophie und Katarakt, autosomal-dominante Form | OPA3, autosomal-dominante · Optikusatrophie, autosomal-dominante, Typ 3 |
| es | Atrofia óptica autosómica dominante y catarata | Atrofia óptica autosómica dominante tipo 3 · OPA3 autosómica dominante |
| it | Atrofia ottica e cataratta, autosomica dominante | Atrofia ottica autosomica dominante, tipo 3 · OPA3, autosomica dominante |
| nl | Autosomaal dominante opticusatrofie en cataract | Autosomaal dominante atrofie van oogzenuw en cataract · Autosomaal dominante opticusatrofie type 3 · OPA3, autosomaal dominant |
| pt | Atrofia óptica autossómica dominante e catarata | |
| pl | Autosomalna dominująca atrofia nerwu wzrokowego i zaćma | Autosomalna dominująca atrofia nerwu wzrokowego typu 3 · OPA3, autosomalna dominująca |
| cs | Autozomálně dominantní atrofie optiku s kataraktou | Autozomálně dominantní atrofie optiku, typ 3 · OPA3, autozomálně dominantní |
| uk | Аутосомно-домінантна атрофія зорового нерва та катаракта | Аутосомно-домінантна атрофія зорового нерва, тип 3 · OPA3, аутосомно-домінантний |
| zh | 常染色体显性视神经萎缩伴白内障 | 常染色体显性遗传性视神经萎缩3型 |
| tr | Otozomal dominant optik atrofi ve katarakt | OPA3, otozomal dominant · Otozomal dominant optik atrofi tip 3 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 165300 | E | validated | |
| ICD-10 | H47.2 | NTBT | attributed | validated |
| ICD-11 | 9C40.8 | NTBT | index | validated |
| MONDO | 0008133 | E | validated | |
| MeSH | C537128 | E | validated | |
| UMLS | C1833809 | E | validated | |
| GARD | 10203 | 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 (2):
- ORPHA:98672Autosomal dominant optic atrophy
rare inborn errors of metabolism; rare genetic diseases; rare ophthalmic disorders - ORPHA:254822Mitochondrial oxidative phosphorylation disorder with no known mechanism
rare inborn errors of metabolism; rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| OPA3 | Disease-causing germline mutation(s) in | Assessed | HGNC:8142 | ENSG00000125741 | 606580 | 19q13.32 | outer mitochondrial membrane lipid metabolism regulator OPA3 | 15342707[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 families | Worldwide | Family(ies) | Validated | 22797356[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_22797356[PMID] |
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
35 annotations · validated 2017-06-14| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0000505 | Visual impairment | |
| Very frequent (99-80%) | ||
| HP:0000648 | Optic atrophy | |
| HP:0007663 | Reduced visual acuity | |
| Frequent (79-30%) | ||
| HP:0001284 | Areflexia | |
| HP:0002522 | Areflexia of lower limbs | |
| HP:0001251 | Ataxia | |
| HP:0000518 | Cataract | |
| HP:0000603 | Central scotoma | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0003394 | Muscle spasm | |
| HP:0000639 | Nystagmus | |
| HP:0012531 | Pain | |
| HP:0003401 | Paresthesia | |
| HP:0010924 | Posterior cortical cataract | |
| HP:0002174 | Postural tremor | |
| HP:0003474 | Somatic sensory dysfunction | |
| HP:0002317 | Unsteady gait | |
| Occasional (29-5%) | ||
| HP:0001172 | Abnormal thumb morphology | |
| HP:0003438 | Absent Achilles reflex | |
| HP:0007795 | Anterior cortical cataract | |
| HP:0010923 | Anterior subcapsular cataract | |
| HP:0000618 | Blindness | |
| HP:0007976 | Cerulean cataract | |
| HP:0009468 | Deviation of the 2nd finger | |
| HP:0010522 | Dyslexia | |
| HP:0007076 | Extrapyramidal muscular rigidity | |
| HP:0001377 | Limited elbow extension | |
| HP:0006248 | Limited wrist movement | |
| HP:0001761 | Pes cavus | |
| HP:0002403 | Positive Romberg sign | |
| HP:0007787 | Posterior subcapsular cataract | |
| HP:0000642 | Red-green dyschromatopsia | |
| HP:0001315 | Reduced tendon reflexes | |
| HP:0002322 | Resting tremor | |
| HP:0000552 | Tritanomaly | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 15342707[PMID]_15924081[PMID]_22797356[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/67036
- This record as JSON: /data/d/67036.json