ORPHA:542585
Auditory neuropathy-optic atrophy syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Childhood, Infancy
- Status
- active
A rare mitochondrial disease characterized by bilateral auditory neuropathy and optic atrophy. Patients present hearing and visual impairment in the first or second decade of life, while psychomotor development is normal. Bilateral retinitis pigmentosa has been reported in association.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Auditory neuropathy-optic atrophy syndrome | |
| fr | Syndrome de neuropathie auditive-atrophie optique | |
| de | Auditorische Neuropathie-Optikusatrophie-Syndrom | |
| es | Síndrome de neuropatía auditiva-atrofia óptica | |
| it | Sindrome neuropatia uditiva - atrofia ottica | |
| nl | Auditieve neuropathie - opticusatrofie-syndroom | |
| pt | Síndrome de neuropatia auditiva-atrofia óptica | |
| pl | Zespół neuropatii słuchowej i atrofii nerwu wzrokowego | |
| cs | Syndrom zahrnující sluchovou neuropatii a optickou atrofii | |
| uk | Синдром слухової нейропатії - атрофії зорового нерва | |
| zh | 听觉神经病变-视神经萎缩综合征 | |
| tr | İşitsel nöropati-optik atrofi sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617717 | E | validated | |
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 5C58.Y | NTBT | attributed | validated |
| MONDO | 0060582 | E | validated | |
| UMLS | C4521678 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:309136Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:441434Syndromic hereditary optic neuropathy
rare genetic diseases; rare ophthalmic disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FDXR | Disease-causing germline mutation(s) in | Assessed | HGNC:3642 | ENSG00000161513 | 103270 | 17q25.1 | ferredoxin reductase | 28965846[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 cases | Worldwide | Case(s) | Validated | 28965846[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28965846[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.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/542585
- This record as JSON: /data/d/542585.json