Familial episodic pain syndrome with predominantly upper body 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 episodes of severe debilitating pain mainly affecting shoulders, thorax and arms (occasionally radiating to the abdomen and legs), triggered by fasting, fatigue, cold temperatures or physical exercise, which last for 60-90 min and respond poorly to conventional analgesia. Intense pain episodes are accompanied by dyspnea, tachycardia, sweating, generalized pallor, peribuccal cyanosis, and stiffness of the abdominal wall and are followed by a period of exhaustion and somnolence.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial episodic pain syndrome with predominantly upper body involvement | |
| fr | Syndrome douloureux épisodique familial avec atteinte prédominante du haut du corps | |
| de | Familiäres episodisches Schmerzsyndrom mit vorwiegender Beteiligung der oberen Körperregion | |
| es | Síndrome familiar de dolor episódico con afectación predominante de la parte superior del cuerpo | |
| it | Sindrome da dolore episodico familiare con prevalente interessamento della parte superiore del corpo | |
| nl | Familiaal episodisch pijnsyndroom met voornamelijk betrokkenheid van bovenlichaam | |
| pt | Síndrome de dor familiar episódica com envolvimento predominante dos membros superiores | |
| pl | Zespół rodzinnego bólu epizodycznego z przewagą w górnej części ciała | |
| cs | Familiární syndrom epizodických bolestí s predominantním postižením horní poloviny těla | |
| uk | Сімейний епізодичний больовий синдром з переважним ураженням верхньої частини тіла | |
| zh | 家族性阵发性疼痛综合征伴上半身受累为主 | |
| tr | Ağırlıklı üst vücut tutulum ile seyreden ailesel epizodik ağrı sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615040 | E | validated | |
| ICD-10 | M79.6 | NTBT | attributed | validated |
| ICD-11 | MG31.Y | NTBT | attributed | validated |
| MONDO | 0014021 | E | validated | |
| UMLS | C3808667 | 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 |
|---|---|---|---|---|---|---|---|---|
| TRPA1 | 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
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 21 cases | Worldwide | Case(s) | Validated | 24207120[PMID]_23115331[PMID]_20547126[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/391389
- This record as JSON: /data/d/391389.json