ORPHA:543470
Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Childhood, Infancy
- Status
- active
A rare mitochondrial disease characterized by a variable clinical phenotype with the core features of optic atrophy, ataxia, and hypotonia. Additional common manifestations include global developmental delay with or without regression, neuropathy, spasticity, and microcephaly, less frequently seizures, movement disorder, hearing loss, and respiratory failure. Brain imaging may show abnormalities of the corpus callosum, basal ganglia, and midbrain, cerebral or cerebellar atrophy, or white matter abnormalities. The condition is frequently fatal at an early age.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome | |
| fr | Syndrome d'atrophie optique-ataxie-neuropathie périphérique-retard global de développement | |
| de | Optikusatrophie-Ataxie-periphere Neuropathie-globale Entwicklungsverzögerung-Syndrom | |
| es | Síndrome de atrofia óptica-ataxia-neuropatía periférica-retraso global del desarrollo | |
| it | Sindrome atrofia ottica - atassia - neuropatia periferica - ritardo dello sviluppo globale | |
| nl | Opticusatrofie - ataxie - perifere neuropathie - algehele ontwikkelingsachterstand-syndroom | |
| pt | Síndrome de atrofia óptica-ataxia-neuropatia periférica-atraso global do desenvolvimento | |
| pl | Zespół atrofii nerwu wzrokowego, ataksji, obwodowej neuropatii i całościowego opóźnienia rozwoju | |
| cs | Syndrom zahrnující optickou atrofii, ataxii, periferní neuropatii a celkové opoždění vývoje | |
| uk | Синдром атрофії зорового нерва-атаксії-периферичної нейропатії-глобальної затримки розвитку | |
| zh | 视神经萎缩-共济失调-周围神经病变-全身发育迟缓综合征 | |
| tr | Optik atrofi-ataksi-periferik nöropati-yaygın gelişme geriliği sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 620887 | E | validated | |
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 5C58.Y | NTBT | attributed | validated |
| MONDO | 0034092 | E | validated | |
| UMLS | C5681321 | 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 (6):
- 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:207018Rare hereditary metabolic disease with peripheral neuropathy
rare genetic diseases; rare neurological diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - 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.
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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 | 29040572[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 17 cases | Worldwide | Case(s) | Validated | 29040572[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_29040572[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
39 annotations · validated 2020-08-19| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010862 | Delayed fine motor development | |
| HP:0002194 | Delayed gross motor development | |
| HP:0000750 | Delayed speech and language development | |
| HP:0001508 | Failure to thrive | |
| HP:0001263 | Global developmental delay | |
| HP:0000648 | Optic atrophy | |
| Frequent (79-30%) | ||
| HP:0012087 | Abnormal mitochondrial shape | |
| HP:0001251 | Ataxia | |
| HP:0002376 | Developmental regression | |
| HP:0001252 | Hypotonia | |
| HP:0002465 | Poor speech | |
| HP:0001257 | Spasticity | |
| HP:0000505 | Visual impairment | |
| Occasional (29-5%) | ||
| HP:0002134 | Abnormal basal ganglia morphology | |
| HP:0001273 | Abnormal corpus callosum morphology | |
| HP:0100022 | Abnormality of movement | |
| HP:0000062 | Ambiguous genitalia | |
| HP:0008936 | Axial hypotonia | |
| HP:0000618 | Blindness | |
| HP:0000518 | Cataract | |
| HP:0000603 | Central scotoma | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0001320 | Cerebellar vermis hypoplasia | |
| HP:0012430 | Cerebral white matter hypoplasia | |
| HP:0008665 | Clitoral hypertrophy | |
| HP:0012448 | Delayed myelination | |
| HP:0002506 | Diffuse cerebral atrophy | |
| HP:0002353 | EEG abnormality | |
| HP:0002066 | Gait ataxia | |
| HP:0001276 | Hypertonia | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0007333 | Hypoplasia of the frontal lobes | |
| HP:0000252 | Microcephaly | |
| HP:0000639 | Nystagmus | |
| HP:0012794 | Periventricular white matter hypodensities | |
| HP:0100602 | Preeclampsia | |
| HP:0001622 | Premature birth | |
| HP:0001250 | Seizure | |
| HP:0012697 | Small basal ganglia | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 29040572[PMID]_30250212[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/543470
- This record as JSON: /data/d/543470.json