ORPHA:140477
Autosomal recessive hereditary sensory and autonomic neuropathy
- Type
- Category
- Group
- Group of disorders
- Inheritance
- Autosomal recessive
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive hereditary sensory and autonomic neuropathy | |
| fr | Neuropathie sensitive et autonomique héréditaire autosomique récessive | |
| de | Neuropathie, autonome hereditäre sensorische,autosomal-rezessiv | |
| es | Neuropatía sensitiva autonómica hereditaria autosómica recesiva | |
| it | Neuropatia sensoriale e autonomica ereditaria autosomica recessiva | |
| nl | Autosomaal recessieve erfelijke sensorische en autonome neuropathie | |
| pt | Neuropatia sensitiva e autonómica hereditária autossómica recessiva | |
| pl | Autosomalna recesywna dziedziczna neuropatia czuciowa i autonomiczna | |
| cs | Autozomálně recesivní hereditární senzorická a autonomní neuropatie | |
| uk | Аутосомно-рецесивна спадкова сенсорна та вегетативна нейропатія | |
| zh | 常染色体隐性遗传感觉自主神经障碍 | |
| tr | Otozomal resesif kalıtsal duyusal ve otonom nöropati |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 15366 | E | validated | |
| UMLS | C5680675 | E | validated | |
| GARD | 19929 | 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 (1):
- ORPHA:140471Hereditary sensory and autonomic neuropathy
rare genetic diseases; rare neurological diseases
Children (13):
- ORPHA:401993Cold-induced sweating syndrome-hyperthermia spectrum
- ORPHA:653728Congenital insensitivity to pain syndrome, Marsili type
- ORPHA:453510Congenital insensitivity to pain with severe intellectual disability
- ORPHA:88642Congenital insensitivity to pain-anosmia-neuropathic arthropathy
- ORPHA:1764Familial dysautonomia
- ORPHA:320385Hereditary sensory and autonomic neuropathy due to TECPR2 mutation
- ORPHA:970Hereditary sensory and autonomic neuropathy type 2
- ORPHA:642Hereditary sensory and autonomic neuropathy type 4
- ORPHA:64752Hereditary sensory and autonomic neuropathy type 5
- ORPHA:314381Hereditary sensory and autonomic neuropathy type 6
- ORPHA:478664Hereditary sensory and autonomic neuropathy type 8
- ORPHA:139573Hereditary sensory and autonomic neuropathy with deafness and global delay
- ORPHA:139578Mutilating hereditary sensory neuropathy with spastic paraplegia
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
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/140477
- This record as JSON: /data/d/140477.json