Erythromelalgia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
|
| Number of Symptoms | 9 |
| OrphanetNr: | 1956 |
| OMIM Id: |
|
| ICD-10: |
I73.8 |
| UMLs: |
C0014804 |
| MeSH: |
D004916 |
| MedDRA: |
10015284 |
| Snomed: |
37151006 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Autosomal dominant hereditary sensory and autonomic neuropathy
-Rare genetic disease -Rare neurologic disease Unclassified genetic skin disease -Rare genetic disease -Rare skin disease |
Symptom Information:
|
|
(HPO:0009830) | Peripheral neuropathy | Very frequent [Orphanet] | 206 / 7739 | |||
|
|
(HPO:0000989) | Pruritus | Frequent [Orphanet] | 111 / 7739 | |||
|
|
(HPO:0010783) | Erythema | Very frequent [Orphanet] | 138 / 7739 | |||
|
|
(HPO:0002140) | Ischemic stroke | Occasional [Orphanet] | 70 / 7739 | |||
|
|
(HPO:0012089) | Arteritis | Occasional [Orphanet] | 40 / 7739 | |||
|
|
(HPO:0001872) | Abnormality of thrombocytes | Occasional [Orphanet] | 20 / 7739 | |||
|
|
(HPO:0001909) | Leukemia | Occasional [Orphanet] | 46 / 7739 | |||
|
|
(HPO:0002045) | Hypothermia | Occasional [Orphanet] | 27 / 7739 | |||
|
|
(HPO:0002205) | Recurrent respiratory infections | Occasional [Orphanet] | 254 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|