Paroxysmal extreme pain disorder

Preferred Label : Paroxysmal extreme pain disorder;

Symbol : PEXPD;

CISMeF acronym : PEPD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Pain, submandibular, ocular, and rectal, with flushing; PEPD; Rectal pain, familial;

Description : Paroxysmal extreme pain disorder, formerly known as familial rectal pain, is characterized by paroxysms of rectal, ocular, or submandibular pain with flushing (Fertleman et al., 2006).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the type IX, voltage-gated sodium channel, alpha subunit gene (SCN9A, 603415.0008);

Prefixed ID : #167400;

Details

Origin ID

167400;

UMLS CUI

C1833661;

Automatic exact mappings (from CISMeF team)
- Paroxysmal extreme pain disorder [MedDRA Preferred Term]
- Xaa-Pro Dipeptidase [NCIt concept]
- paroxysmal extreme pain disorder [DO Concept]
- peptidase D [ORDO Gene]
Currated CISMeF NLP mapping
- Paroxysmal Extreme Pain Disorder [NCIt concept]
- Paroxysmal extreme pain disorder [ICD-11 More detail]
- Paroxysmal extreme pain disorder [ORDO Disease]
- Paroxysmal extreme pain disorder (disorder) [SNOMED CT concept]
- paroxysmal extreme pain disorder [MeSH concept]
- paroxysmal extreme pain disorder [MeSH Supplementary Concept]
DO Cross reference
- paroxysmal extreme pain disorder [DO Concept]
Genes related to phenotype
- Sodium voltage-gated channel, alpha subunit 9 [OMIM gene]
HPO term(s)
- Anal pain [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bradycardia [HPO term]
- Flushing [HPO term]
- Impaired pain sensation [HPO term]
- Lacrimation abnormality [HPO term]
- Mandibular pain [HPO term]
- Neonatal onset [HPO term]
- Ocular pain [HPO term]
- Rhinorrhea [HPO term]
- Tachycardia [HPO term]
ORDO concept(s)
- Paroxysmal extreme pain disorder [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Paroxysmal Extreme Pain Disorder [NCIt concept]
- Paroxysmal extreme pain disorder [ORDO Disease]
- Paroxysmal extreme pain disorder [ICD-11 More detail]
- Paroxysmal extreme pain disorder [MedDRA Preferred Term]
- Paroxysmal extreme pain disorder (disorder) [SNOMED CT concept]
- paroxysmal extreme pain disorder [MeSH Supplementary Concept]
- paroxysmal extreme pain disorder [MeSH concept]
- paroxysmal extreme pain disorder [DO Concept]

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