Familial episodic pain syndrome with predominantly lower limb involvement
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A subtype of familial episodic pain syndrome characterized by intense, episodic and/or cyclic pain mainly localized in the distal lower limbs (occasionally affecting upper limbs as well) which is triggered/exacerbated by fatigue, cold exposure and/or weather changes and alleviated with anti-inflammatory medication, that has a tendancy to diminish in frequency with age. Episodes usually occur late in the day, last 15-30 min and associate sweating and a cold sensation of affected area.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial episodic pain syndrome with predominantly lower limb involvement | |
| fr | Syndrome douloureux épisodique familial avec atteinte prédominante des membres inférieurs | |
| de | Familiäres episodisches Schmerzsyndrom mit vorwiegender Beteiligung der unteren Körperregion | |
| es | Síndrome familiar de dolor episódico con afectación predominante de las extremidades inferiores | |
| it | Sindrome da dolore episodico familiare con prevalente interessamento degli arti inferiori | |
| nl | Familiaal episodisch pijnsyndroom met voornamelijk betrokkenheid van onderste ledematen | |
| pt | Síndrome de dor familiar episódica com envolvimento predominante dos membros inferiores | |
| pl | Zespół rodzinnego bólu epizodycznego z przewagą w kończynach dolnych | |
| cs | Familiární syndrom epizodických bolestí s predominantním postižením dolní končetiny | |
| uk | Сімейний епізодичний больовий синдром з переважним ураженням нижніх кінцівок | |
| zh | 家族性阵发性疼痛综合征伴下肢受累为主 | |
| tr | Ağırlıklı alt ekstremite tutulum ile seyreden ailesel epizodik ağrı sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615552 | E | validated | |
| ICD-10 | M79.6 | NTBT | attributed | validated |
| ICD-11 | MG31.Y | NTBT | attributed | validated |
| MONDO | 0014247 | E | validated | |
| UMLS | C3809899 | 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:391384Familial episodic pain syndrome
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SCN11A | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:10583 | ENSG00000168356 | 604385 | 3p22.2 | sodium voltage-gated channel alpha subunit 11 | 24207120[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 28 cases | Worldwide | Case(s) | Validated | 21698661[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/391392
- This record as JSON: /data/d/391392.json