Paroxysmal extreme pain disorder
Synonyms: Familial rectal pain
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, neurological disorder characterized by severe episodic perirectal pain accompanied by skin flushing that is typically precipitated by defecation. Ocular and submaxillary pain, associated with triggers including cold or other irritants, may become more prominent with age.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Paroxysmal extreme pain disorder | Familial rectal pain |
| fr | Syndrome de douleur extrême paroxystique | Douleur rectale familiale |
| de | Paroxysmale extreme Schmerzstörung | Familiärer rektaler Schmerz |
| es | Trastorno del dolor extremo paroxístico | |
| it | Sindrome da dolore parossistico estremo | Dolore rettale familiare |
| nl | Aandoening met paroxysmale extreme pijn | Familiale rectale pijn |
| pt | doença de dor extrema paroxística | Dor retal familiar |
| pl | Zespół napadowego bólu ekstremalnego | Rodzinny ból odbytnicy |
| cs | Paroxysmální extrémní bolest | Familiární rektální bolest |
| uk | Пароксизмальний сильний больовий розлад | Сімейний біль у прямій кишці |
| zh | 阵发性剧痛症 | 家族性直肠痛 |
| tr | Paroksismal aşırı ağrı bozukluğu | Ailesel rektal ağrı |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 167400 | E | validated | |
| ICD-10 | G90.8 | NTBT | attributed | not yet validated |
| ICD-11 | 8E43.Y | NTBT | index | validated |
| MONDO | 0008179 | E | validated | |
| MeSH | C563475 | E | validated | |
| UMLS | C1833661 | E | validated | |
| GARD | 12854 | E | validated | |
| MedDRA | 10081856 | 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 (2):
- ORPHA:71859Rare genetic neurological disorder
rare genetic diseases - ORPHA:98006Rare neurologic disease
rare neurological diseases
No children.
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 | 17145499[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 families | Worldwide | Family(ies) | Validated | 8778439[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
2 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001250 | Seizure | |
| Frequent (79-30%) | ||
| HP:0002019 | Constipation | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 17145499[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/46348
- This record as JSON: /data/d/46348.json