Familial episodic pain syndrome
Synonyms: FEPS
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare genetic peripheral neuropathy characterized by recurrent, stereotyped, episodic intense pain, ocurring predominantly in either the upper body or lower limbs in several members of a family, which is triggered or exacerbated by fatigue, cold exposure, fasting, weather changes and/or physical stress or exertion and may or may not diminish with age. Sweating and other manifestations, such as tachycardia, breathing difficulties and generalized pallor, may be associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial episodic pain syndrome | FEPS |
| fr | Syndrome douloureux épisodique familial | = en |
| de | Familiäres episodisches Schmerzsyndrom | = en |
| es | Síndrome de dolor episódico familiar | = en |
| it | Sindrome del dolore episodico familiare | = en |
| nl | Familiaal episodisch pijnsyndroom | = en |
| pt | Síndrome de dor familiar episódica | |
| pl | Zespół rodzinnego bólu epizodycznego | = en |
| cs | Familiární syndrom epizodických bolestí | = en |
| uk | Сімейний епізодичний больовий синдром | = en |
| zh | 家族性阵发性疼痛综合征 | = en |
| tr | Ailesel epizodik ağrı sendromu | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615040 | BTNT | validated | |
| OMIM | 615552 | BTNT | validated | |
| ICD-10 | M79.6 | NTBT | attributed | validated |
| ICD-11 | MG31.Y | NTBT | attributed | validated |
| MONDO | 0018319 | E | validated | |
| UMLS | C5190598 | E | validated | |
| GARD | 12684 | 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:98497Genetic peripheral neuropathy
rare genetic diseases; rare neurological diseases
Genes
0 direct · 2 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| SCN11A | ORPHA:391392Familial episodic pain syndrome with predominantly lower limb involvement | 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] |
| TRPA1 | ORPHA:391389Familial episodic pain syndrome with predominantly upper body involvement | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:497 | ENSG00000104321 | 604775 | 8q21.11 | transient receptor potential cation channel subfamily A member 1 | 20547126[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | 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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/391384
- This record as JSON: /data/d/391384.json