EPISODIC PAIN SYNDROME, FAMILIAL, 1

General Information (adopted from Orphanet):

Synonyms, Signs: FEPS1
Number of Symptoms 8
OrphanetNr:
OMIM Id: 615040
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset: Infantile onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0012531) Pain 9 / 7739
2
(OMIM) Tachycardia during pain episodes 1 / 7739
3
(OMIM) Pain affects upper body 1 / 7739
4
(OMIM) Pain, episodic 1 / 7739
5
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
6
(OMIM) Enhanced secondary hyperalgesia and flare response on mustard oil application 1 / 7739
7
(OMIM) Breathing difficulties during pain episodes 1 / 7739
8
(HPO:0003593) Infantile onset 249 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Familial episodic pain syndrome-1 is an autosomal dominant neurologic disorder characterized by onset in infancy of episodic debilitating upper body pain triggered by fasting, cold, and physical stress (summary by Kremeyer et al., 2010).

- Genetic ...

Clinical Description OMIM Kremeyer et al. (2010) reported a large 4-generation family from Colombia, South America, in which 21 individuals had an episodic pain syndrome. The disorder was characterized by onset in infancy of episodic debilitating upper body pain usually triggered ...
Molecular genetics OMIM By linkage analysis followed by candidate gene sequencing in a large Colombian family with episodic pain syndrome, Kremeyer et al. (2010) identified a heterozygous missense mutation in the TRPA1 gene (N855S; 604775.0001). The mutation completely segregated with the ...