Paroxysmal extreme pain disorder

General Information (adopted from Orphanet):

Synonyms, Signs: RECTAL PAIN, FAMILIAL
PAIN, SUBMANDIBULAR, OCULAR, AND RECTAL, WITH FLUSHING
PEPD
PEXPD
Familial rectal pain
Number of Symptoms 19
OrphanetNr: 46348
OMIM Id: 167400
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 4 families [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Rare genetic neurological disease
 -Rare genetic disease
Rare neurologic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0200026) Ocular pain 1 / 7739
2
 (HPO:0200025) Mandibular pain 1 / 7739
3
 (HPO:0000632) Lacrimation abnormality 42 / 7739
4
 (HPO:0007328) Impaired pain sensation 10 / 7739
5
 (HPO:0002019) Constipation Frequent [Orphanet] 194 / 7739
6
 (HPO:0001649) Tachycardia 53 / 7739
7
 (HPO:0001662) Bradycardia 41 / 7739
8
 (OMIM) Ocular pain, episodic 1 / 7739
9
 (HPO:0003623) Neonatal onset 22 / 7739
10
 (OMIM) Burning pain, episodic 1 / 7739
11
 (OMIM) Rhinorrhea, episodic 1 / 7739
12
 (OMIM) Mandibular and submandibular pain, episodic, triggered by eating and yawning 1 / 7739
13
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
14
 (OMIM) Nonepileptic tonic attacks (most common in infants and young children) 1 / 7739
15
 (OMIM) Autonomic reflex asystolic syncopal events 1 / 7739
16
 (OMIM) Reddish discoloration, episodic, associated with pain 1 / 7739
17
 (OMIM) Rectal pain, episodic, triggered by defecation 1 / 7739
18
 (OMIM) Lacrimation, episodic 1 / 7739
19
 (OMIM) Skin flushing, episodic, associated with pain 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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).
Clinical Description OMIM Hayden and Grossman (1959) described a syndrome consisting of very brief, excruciating pain of the submandibular, ocular and rectal areas with flushing of the surrounding skin. Autosomal dominant inheritance with incomplete penetrance of the components was suggested. Submandibular ...
Molecular genetics OMIM In 11 families and 2 sporadic cases of PEXPD, Fertleman et al. (2006) identified 8 missense mutations in the SCN9A gene (603415), which encodes the Na(v)1.7 voltage-gated sodium channel alpha subunit. Functional analysis in vitro of 3 of ...