Early-onset X-linked optic atrophy
Synonyms: OPA2 · Optic atrophy type 2 · Non-Leber type optic atrophy with early-onset
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Childhood
- Status
- active
Early-onset X-linked optic atrophy is a rare form of hereditary optic atrophy, seen in only 4 families to date, with an onset in early childhood, characterized by progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Early-onset X-linked optic atrophy | OPA2 · Optic atrophy type 2 · Non-Leber type optic atrophy with early-onset |
| fr | Atrophie optique précoce liée à l'X | Atrophie optique précoce de type non-Leber · Atrophie optique type 2 · OPA2 |
| de | Optikusatrophie, X-chromosomale, mit frühem Beginn | OPA2 · Optikusatrophie (nicht Typ Leber) mit frühem Beginn · Optikusatrophie Typ 2 |
| es | Atrofia óptica ligada al cromosoma X de inicio precoz | Atrofia óptica tipo 2 · Atrofia óptica tipo no-Leber de inicio precoz · OPA2 |
| it | Atrofia ottica isolata legata all'X a esordio precoce | Atrofia ottica a esordio precoce, tipo non-Leber · Atrofia ottica, tipo 2 · OPA2 |
| nl | X-gebonden opticusatrofie met vroege aanvang | Niet-Leber-type opticusatrofie met vroege aanvang · OPA2 · Opticusatrofie type 2 |
| pt | Atrofia óptica ligada ao X de início precoce | Atrofia óptica tipo 2 · OPA2 |
| pl | Izolowany zanik nerwu wzrokowego o wczesnym początku sprzężony z chromosomem X | OPA2 · Zanik nerwu wzrokowego typu 2 |
| cs | X-vázaná izolovaná atrofie optiku s časným nástupem | OPA2 · Atrofie optiku, typ 2 · Non-Leberův typ atrofie optiku s časným nástupem |
| uk | Рання Х-зчеплена атрофія зорового нерва | Атрофія зорового нерва не за типом Лебера з раннім початком · OPA2 · Атрофія зорового нерва 2 типу |
| zh | 早发型X-连锁视神经萎缩 | 早发性非Leber型视神经萎缩 |
| tr | Erken başlangıçlı X'e bağlı optik atrofi | OPA2 · Optik atrofi tip 2 · Erken başlangıçlı Leber tipi olmayan optik atrofi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 311050 | E | validated | |
| ICD-10 | H47.2 | NTBT | attributed | validated |
| MONDO | 0010698 | E | validated | |
| UMLS | C1839576 | E | validated | |
| GARD | 10199 | 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:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:441434Syndromic hereditary optic neuropathy
rare genetic diseases; rare ophthalmic disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| OPA2 | Disease-causing germline mutation(s) in | Assessed | HGNC:8141 | Xp11.4-p11.2 | optic atrophy 2 (obscure) |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 families | Worldwide | Family(ies) | Validated | 16969871[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_16969871[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
17 annotations · validated 2019-08-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000603 | Central scotoma | |
| HP:0000551 | Color vision defect | |
| HP:0000648 | Optic atrophy | |
| HP:0000543 | Optic disc pallor | |
| HP:0000529 | Progressive visual loss | |
| HP:0007663 | Reduced visual acuity | |
| Occasional (29-5%) | ||
| HP:0012638 | Abnormality of nervous system physiology | |
| HP:0012164 | Asterixis | |
| HP:0003487 | Babinski sign | |
| HP:0001266 | Choreoathetosis | |
| HP:0000762 | Decreased nerve conduction velocity | |
| HP:0002075 | Dysdiadochokinesis | |
| HP:0000712 | Emotional lability | |
| HP:0002066 | Gait ataxia | |
| HP:0001249 | Intellectual disability | |
| HP:0002080 | Intention tremor | |
| HP:0000639 | Nystagmus | |
Annotation source: 16969871[PMID]_27169914[PMID]_123591[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98890
- This record as JSON: /data/d/98890.json