Primary erythromelalgia
Synonyms: Primary erythermalgia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
Primary erythermalgia is characterized by intermittent attacks of red, warm, painful burning extremities. It spontaneously arises during early childhood and adolescence in the absence of any detectable underlying disorder.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Primary erythromelalgia | Primary erythermalgia |
| fr | Erythromélalgie primaire | Erythermalgie primaire |
| de | Erythromelalgie, primäre | |
| es | Eritromelalgia primaria | Eritermalgia primaria |
| it | Eritermalgia primitiva | |
| nl | Primaire erytromelalgie | Primaire erythermalgie |
| pt | Eritermalgia primária | |
| pl | Pierwotna erytromelalgia | = en |
| cs | Primární erythermalgie | = en |
| uk | Первинна еритромелалгія | Первинна еритема |
| zh | 原发性红斑性肢痛病 | 原发性红斑性肢痛症 |
| tr | Primer eritromelalji | Primer eritermalji |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 133020 | E | validated | |
| ICD-10 | I73.8 | NTBT | index | validated |
| ICD-11 | EG00 | NTBT | index | validated |
| MONDO | 0007571 | E | validated | |
| MeSH | D004916 | E | validated | |
| UMLS | C0014805 | E | validated | |
| GARD | 6377 | 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:140474Autosomal dominant hereditary sensory and autonomic neuropathy
rare genetic diseases; rare neurological diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:1956OBSOLETE: Erythromelalgia referred to · inactive
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SCN10A | Candidate gene tested in | Not yet assessed | HGNC:10582 | ENSG00000185313 | 604427 | 3p22.2 | sodium voltage-gated channel alpha subunit 10 | |
| SCN11A | Candidate gene tested in | Not yet assessed | HGNC:10583 | ENSG00000168356 | 604385 | 3p22.2 | sodium voltage-gated channel alpha subunit 11 | |
| SCN9A | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:10597 | ENSG00000169432 | 603415 | 2q24.3 | sodium voltage-gated channel alpha subunit 9 | 15958509[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 100 000 | 1.1 / 100 000 | United States | Value and class | Validated | 18713229[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
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
14 annotations · validated 2024-02-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010783 | Erythema | |
| HP:0032147 | Erythromelalgia | |
| HP:0009830 | Peripheral neuropathy | |
| Frequent (79-30%) | ||
| HP:0000989 | Pruritus | |
| Occasional (29-5%) | ||
| HP:0001872 | Abnormality of thrombocytes | |
| HP:0012533 | Allodynia | |
| HP:0200101 | Decreased/absent ankle reflexes | |
| HP:0002936 | Distal sensory impairment | |
| HP:0012534 | Dysesthesia | |
| HP:0002045 | Hypothermia | |
| HP:0001909 | Leukemia | |
| HP:0010741 | Pedal edema | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0002633 | Vasculitis | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 26920677[PMID]_20301342[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/90026
- This record as JSON: /data/d/90026.json