ORPHA:457205
Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome
Synonyms: ANOAC · Axonal neuropathy-optic atrophy-cognitive deficit syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare neurologic disease characterized by axonal sensorimotor neuropathy, progressive optic atrophy, cognitive deficit, bulbar dysfunction, seizures, and early hypotonia and feeding difficulties. Additional possible features include dystonia, scoliosis, joint contractures, ocular anomalies, and urogenital anomalies. Brain MRI reveals variable degrees of cerebral atrophy. The disease is fatal in childhood due to respiratory failure.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome | ANOAC · Axonal neuropathy-optic atrophy-cognitive deficit syndrome |
| fr | Syndrome de neuropathie sensitivo-motrice axonale-atrophie optique-neurodégénerescence à début infantile | ANOAC · Syndrome de neuropathie axonale-atrophie optique-déficience cognitive |
| de | Infantile axonale motorische und sensorische Neuropathie-Optikusatrophie-Neurodegeneration-Syndrom | ANOAC · Axonale Neuropathie-Optikusatrophie-kognitive Störung-Syndrom |
| es | Síndrome neurodegenerativo de neuropatía axonal sensitivo-motora-atrofia óptica de inicio en la infancia | ANOAC · Síndrome de neuropatía axonal-atrofia óptica-deficiencia cognitiva |
| it | Sindrome neuropatia sensitivo-motoria assonale ad esordio neonatale-atrofia ottica-degenerazione neurologica | |
| nl | Infantiel axonale motorische en sensorische neuropathie - opticusatrofie - neurodegeneratie-syndroom | ANOAC · Axonale neuropathie - opticusatrofie - cognitieve stoornis-syndroom |
| pt | Síndrome neurodegenerativo de neuropatia axonal sensitiva e motora-atrofia óptica com início na infância | |
| pl | Zespół neurodegeneracyjny o początku w wieku dziecięcym z aksonalną neuropatią ruchową i czuciową i zanikiem nerwu wzrokowego | ANOAC · Zespół neuropatii aksonalnej, zaniku nerwu wzrokowego i deficytu poznawczego |
| cs | Syndrom zahrnující infantilní axonální motorickou a senzorickou neuropatii, atrofii optiku a neurodegeneraci | ANOAC · Syndrom zahrnující axonální neuropatii, atrofii optiku a kognitivní deficit |
| uk | Інфантильна аксональна моторна та сенсорна нейропатія - атрофія зорового нерва - нейродегенеративний синдром | ANOAC · Синдром аксональної нейропатії - атрофії зорового нерва - когнітивного дефіциту |
| zh | 婴幼儿发作的轴突运动和感觉神经病变-视神经萎缩-神经退行性综合征 | ANOAC |
| tr | İnfantil başlangıçlı aksonal motor ve duyusal nöropati-optik atrofi-nörodejeneratif sendrom | Aksonal nöropati-optik atrofi-bilişsel eksiklik sendromu · ANOAC |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G60.8 | NTBT | attributed | validated |
| MONDO | 0018705 | E | validated | |
| UMLS | C5680002 | 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:91024Autosomal recessive axonal hereditary motor and sensory neuropathy
rare genetic diseases; rare neurological diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:183500Genetic neurodegenerative disease
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:182070Rare neurodegenerative disease
rare neurological diseases - ORPHA:441434Syndromic hereditary optic neuropathy
rare genetic diseases; rare ophthalmic disorders
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 25504045[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25504045[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
26 annotations · validated 2019-12-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0030179 | Abnormal peripheral action potential amplitude | |
| HP:0001344 | Absent speech | |
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0002059 | Cerebral atrophy | |
| HP:0000028 | Cryptorchidism | |
| HP:0000762 | Decreased nerve conduction velocity | |
| HP:0100660 | Dyskinesia | |
| HP:0001332 | Dystonia | |
| HP:0002353 | EEG abnormality | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0008947 | Floppy infant | |
| HP:0008366 | Foot joint contracture | |
| HP:0004302 | Functional motor deficit | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0011471 | Gastrostomy tube feeding in infancy | |
| HP:0000501 | Glaucoma | |
| HP:0001263 | Global developmental delay | |
| HP:0007817 | Horizontal supranuclear gaze palsy | |
| HP:0002540 | Inability to walk | |
| HP:0000737 | Irritability | |
| HP:0007002 | Motor axonal neuropathy | |
| HP:0000648 | Optic atrophy | |
| HP:0003390 | Sensory axonal neuropathy | |
| HP:0011344 | Severe global developmental delay | |
| HP:0003202 | Skeletal muscle atrophy | |
| Occasional (29-5%) | ||
| HP:0012411 | Premature pubarche | |
Annotation source: 25504045[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/457205
- This record as JSON: /data/d/457205.json