Congenital axonal neuropathy with encephalopathy
- Type
- Disease
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- active
A rare, congenital, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by axonal neuropathy, manifesting at birth or shortly thereafter with generalized muscular hypotonia, prominently distal muscular weakness, respiratory/swallowing difficulties and diffuse areflexia, associated with central nervous system involvement, which includes progressive microcephaly, seizures, and global developmental delay. Additional variable manifestations include hearing impairment, ocular lesions, skeletal anomalies (e.g. talipes equinovarus, overriding toes, scoliosis, joint contractures), cryptorchidism, and dysmorphic features (such as coarse facies, hypertelorism, high-arched palate). Outcome is typically poor due to respiratory insufficiency and/or aspiration pneumonia.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital axonal neuropathy with encephalopathy | |
| fr | Neuropathie axonale congénitale avec encéphalopathie | |
| de | Kongenitale axonale Neuropathie mit Enzephalopathie | |
| es | Neuropatía axonal congénita con encefalopatía | |
| it | Neuropatia assonale congenita con encefalopatia | |
| nl | Congenitale axonale neuropathie met encefalopathie | |
| pt | Neuropatia axonal congénita com encefalopatia | |
| pl | Wrodzona aksonalna neuropatia z encefalopatią | |
| cs | Vrozená axonální neuropatie s encefalopatií | |
| uk | Вроджена аксональна нейропатія з енцефалопатією | |
| zh | 先天性轴索神经病伴脑病 | |
| tr | Ensefalopatili ile seyreden Doğumsal aksonal nöropati |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G60.0 | NTBT | attributed | validated |
| MONDO | 0034041 | E | validated | |
| UMLS | C5681314 | 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 (1):
- ORPHA:91024Autosomal recessive axonal hereditary motor and sensory neuropathy
rare genetic diseases; rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_18358405[PMID] |
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 18358405[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/538101
- This record as JSON: /data/d/538101.json