ORPHA:98673
Autosomal dominant optic atrophy, classic form
Synonyms: Autosomal dominant optic atrophy, Kjer type · Kjer optic atrophy · Optic atrophy type 1
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare neuro-ophthalmological disease which is one of the most common forms of hereditary optic neuropathy characterized by progressive bilateral visual loss with an onset during the first decade of life, associated with optic disc pallor, visual acuity loss, visual field deficits and color vision defects.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant optic atrophy, classic form | Autosomal dominant optic atrophy, Kjer type · Kjer optic atrophy · Optic atrophy type 1 |
| fr | Atrophie optique autosomique dominante classique | Atrophie optique autosomique dominante de Kjer · Atrophie optique dominante de type 1 · Maladie de Kjer |
| de | Optikusatrophie, autosomal-dominante, klassische Form | Autosomal-dominante Optikusatrophie Typ Kjer · Optikusatrophie Typ 1 · Optikusatrophie Typ Kjer |
| es | Atrofia óptica autosómica dominante tipo clásico | Atrofia óptica autosómica dominante tipo Kjer · Atrofia óptica de Kjer · Atrofia óptica tipo 1 |
| it | Atrofia ottica autosomica dominante, forma classica | Atrofia ottica autosomica dominante, tipo Kjer · Atrofia ottica di Kjer · Atrofia ottica, tipo 1 |
| nl | Autosomaal dominante opticusatrofie, klassieke vorm | Autosomaal dominante opticusatrofie, Kjer-type · Opticusatrofie type 1 · Opticusatrofie van Kjer |
| pt | Atrofia óptica autossómica dominante, forma clássica | Atrofia óptica tipo 1 |
| pl | Autosomalny dominujący zanik nerwu wzrokowego, typ klasyczny | Autosomalny dominujący zanik nerwu wzrokowego, typ Kjera · Zanik nerwu wzrokowego Kjera · Zanik nerwu wzrokowego typu 1 |
| cs | Autozomálně dominantní dědičná atrofie optiku, klasická forma | Kjerova atrofie optiku · Atrofie optiku, typ 1 · Kjerova autozomálně dominantní atrofie optiku |
| uk | Аутосомно-домінантна атрофія зорового нерва, класична форма | Аутосомно-домінантна атрофія зорового нерва, тип Кьєра · Атрофія зорового нерва Кьєра · Атрофія зорового нерва 1 типу |
| zh | 常染色体显性遗传视神经萎缩经典型 | Kjer型常染色体显性遗传视神经萎缩 |
| tr | Otozomal dominant optik atrofi, klasik form | Kjer optik atrofi · Optik atrofi tip 1 · Otozomal dominant optik atrofi, Kjer tipi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 165500 | BTNT | validated | |
| OMIM | 605293 | BTNT | validated | |
| OMIM | 610708 | BTNT | validated | |
| OMIM | 618977 | BTNT | validated | |
| ICD-10 | H47.2 | NTBT | attributed | validated |
| ICD-11 | 9C40.8 | NTBT | index | validated |
| MONDO | 0008134 | E | validated | |
| UMLS | C0338508 | 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: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.
4
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DNM1L | Disease-causing germline mutation(s) in | Assessed | HGNC:2973 | ENSG00000087470 | 603850 | 12p11.21 | dynamin 1 like | 28969390[PMID] |
| OPA1 | Disease-causing germline mutation(s) in | Assessed | HGNC:8140 | ENSG00000198836 | 605290 | 3q29 | OPA1 mitochondrial dynamin like GTPase | 20301426[PMID] |
| PPIB | Disease-causing germline mutation(s) in | Assessed | HGNC:9255 | ENSG00000166794 | 123841 | 15q22.31 | peptidylprolyl isomerase B | 41045073[PMID] |
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Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 2 / 100 000 | Worldwide | Value and class | Not yet validated | ORPHANET_20301426[PMID] |
| Point prevalence | 1-5 / 10 000 | 10 / 100 000 | Denmark | Value and class | Validated | 8689476[PMID] |
| Point prevalence | 1-9 / 100 000 | 2.86 / 100 000 | United Kingdom | Value and class | Validated | 20417570[PMID] |
| Point prevalence | 6-9 / 10 000 | 83.33 / 100 000 | Specific population | Value and class | Validated | 21745197[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.
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HPO phenotypes
44 annotations · validated 2019-04-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000648 | Optic atrophy | |
| HP:0000505 | Visual impairment | |
| Frequent (79-30%) | ||
| HP:0000551 | Color vision defect | |
| HP:0030515 | Moderately reduced visual acuity | |
| HP:0025514 | Morning glory anomaly | |
| HP:0000602 | Ophthalmoplegia | |
| HP:0007141 | Sensorimotor neuropathy | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0012511 | Temporal optic disc pallor | |
| Occasional (29-5%) | ||
| HP:0001251 | Ataxia | |
| HP:0000603 | Central scotoma | |
| HP:0001288 | Gait disturbance | |
| HP:0003198 | Myopathy | |
| HP:0000508 | Ptosis | |
| Very rare (<4-1%) | ||
| HP:0002518 | Abnormal periventricular white matter morphology | |
| HP:0001284 | Areflexia | |
| HP:0007366 | Atrophy/Degeneration affecting the brainstem | |
| HP:0002135 | Basal ganglia calcification | |
| HP:0000518 | Cataract | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0100543 | Cognitive impairment | |
| HP:0007371 | Corpus callosum atrophy | |
| HP:0000726 | Dementia | |
| HP:0000819 | Diabetes mellitus | |
| HP:0009921 | Duane anomaly | |
| HP:0002015 | Dysphagia | |
| HP:0012378 | Fatigue | |
| HP:0011968 | Feeding difficulties | |
| HP:0001263 | Global developmental delay | |
| HP:0000738 | Hallucinations | |
| HP:0001269 | Hemiparesis | |
| HP:0000135 | Hypogonadism | |
| HP:0000821 | Hypothyroidism | |
| HP:0001972 | Macrocytic anemia | |
| HP:0002076 | Migraine | |
| HP:0003326 | Myalgia | |
| HP:0000639 | Nystagmus | |
| HP:0001761 | Pes cavus | |
| HP:0003691 | Scapular winging | |
| HP:0001250 | Seizure | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0001258 | Spastic paraplegia | |
| HP:0001257 | Spasticity | |
| HP:0030319 | Weakness of facial musculature | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 30165240[PMID]_11535456[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98673
- This record as JSON: /data/d/98673.json