Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal
- Status
- active
A rare, genetic, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by prenatal onset of a severe sensorimotor axonal polyneuropathy (reflected by reduced fetal movement and polyhydramnios), manifesting, at birth, with respiratory failure requiring mechanical ventilation, profound muscular hypotonia, rapidly progressing distal muscle weakness, and absent deep tendon reflexes, in the absence of contractures, leading to death before 8 months of age. Neuropathological findings show severe loss of large- and medium-sized myelinated fibers without signs of demyelination.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy | |
| fr | Polyneuropathie sensitivomotrice néonatale létale autosomique récessive | |
| de | Autosomal-rezessive letale neonatale axonale sensorimotorische Polyneuropathie | |
| es | Polineuropatía axonal sensitivo-motora neonatal letal autosómica recesiva | |
| it | Polineuropatia assonale sensitivo-motoria neonatale letale autosomica recessiva | |
| nl | Autosomaal recessieve letale neonatale axonale sensomotorische polyneuropathie | |
| pt | Polineuropatia neurossensorial axonal neonatal fatal autossómica recessiva | |
| pl | Autosomalna recesywna noworodkowa i letalna aksonalna polineuropatia czuciowo-ruchowa | |
| cs | Autozomálně recesivní letální neonatální axonální senzorimotorická polyneuropatie | |
| uk | Аутосомно-рецесивна летальна неонатальна аксональна сенсомоторна полінейропатія | |
| zh | 常染色体隐性致死性新生儿感觉运动性轴索多发性神经病 | |
| tr | Otozomal resesif letal yenidoğan aksonal sensorimotor polinöropati |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 604431 | E | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| MONDO | 0011463 | E | validated | |
| MeSH | C565773 | E | validated | |
| UMLS | C1858353 | 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 |
| Cases/families | 13 cases | Worldwide | Case(s) | Validated | 22971091[PMID]_9771672[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/538096
- This record as JSON: /data/d/538096.json