ORPHA:658549
Idiopathic small fibers neuropathy
Synonyms: Idiopathic-SFN
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Idiopathic small fibers neuropathy | Idiopathic-SFN |
| fr | Neuropathie idiopathique des petites fibres | Neuropathie idiopathique à petites fibres |
| de | Small-Fiber-Neuropathie, idiopathische | Idiopathische SFN |
| es | Neuropatía de fibras pequeñas idiopática | NFP idiopática |
| it | Neuropatia idiopatica delle piccole fibre | SFN idiopatica |
| nl | Idiopathische dunnevezelneuropathie | Idiopathische DVN |
| pt | Neuropatia idiopática de pequenas fibras | SFN-idiopática |
| pl | Idiopatyczna neuropatia małych włókien nerwowych | = en |
| cs | Idiopatická neuropatie malých vláken | = en |
| uk | Ідіопатична невропатія дрібних волокон | Ідіопатична SFN |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G90.0 | NTBT | attributed | validated |
| MONDO | 0958122 | E | validated | |
| MONDO | 958122 | E | validated | |
| UMLS | C5925111 | 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:182086Acquired peripheral neuropathy
rare neurological diseases
No children.
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
22 annotations · validated 2024-02-02| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0000763 | Sensory neuropathy | |
| Frequent (79-30%) | ||
| HP:0008652 | Autonomic erectile dysfunction | |
| HP:0032147 | Erythromelalgia | |
| HP:0031284 | Flushing | |
| HP:0033748 | Hypoesthesia | |
| HP:0007550 | Hypohidrosis or hyperhidrosis | |
| HP:0001010 | Hypopigmentation of the skin | |
| HP:0040270 | Impaired glucose tolerance | |
| HP:0001097 | Keratoconjunctivitis sicca | |
| HP:0000217 | Xerostomia | |
| Occasional (29-5%) | ||
| HP:0012700 | Abnormal large intestine physiology | |
| HP:0012533 | Allodynia | |
| HP:0033850 | Coldness | |
| HP:0100502 | Decreased circulating vitamin B12 concentration | |
| HP:0000009 | Functional abnormality of the bladder | |
| HP:0002579 | Gastrointestinal dysmotility | |
| HP:0007328 | Impaired pain sensation | |
| HP:0010829 | Impaired temperature sensition | |
| HP:0003394 | Muscle spasm | |
| HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | |
| HP:0001962 | Palpitations | |
| HP:0012452 | Restless legs | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 24778270[PMID]_30289758[PMID]_12210380[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/658549
- This record as JSON: /data/d/658549.json