Familial episodic pain syndrome with predominantly upper body involvement(FEPS1)

MedGen UID:: 814997
•Concept ID:: C3808667
•: Disease or Syndrome

Synonym:	Familial episodic pain syndrome 1
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	TRPA1 (8q21.11)

Monarch Initiative:	MONDO:0014021
OMIM®:	615040
Orphanet:	ORPHA391389

Definition

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 Heterogeneity of Familial Episodic Pain Syndrome See also FEPS2 (615551), caused by mutation in the SCN10A gene (604427) on chromosome 3p22, and FEPS3 (615552), caused by mutation in the SCN11A gene (604385) on chromosome 3p22. [from OMIM]

Clinical features

From HPO

Episodic pain

MedGen UID:: 814998
•Concept ID:: C3808668
•: Sign or Symptom

Intermittent pain, i.e., pain that occurs occasionally and at irregular intervals.

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Constitutional symptom
- Episodic pain

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GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVFamilial episodic pain syndrome with predominantly upper body involvement

Hereditary peripheral neuropathy
- Familial episodic pain syndrome
  - Familial episodic pain syndrome with predominantly upper body involvement

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Familial episodic pain syndrome with predominantly upper body involvement(FEPS1)

Definition

Clinical features

Term Hierarchy

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