Episodic Pain Syndrome, Familial, 3 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: EPS028 MIFTS: 16	Episodic Pain Syndrome, Familial, 3 Categories: Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Symptoms & Phenotypes Download Expand all tables

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Aliases & Classifications for Episodic Pain Syndrome, Familial, 3

MalaCards integrated aliases for Episodic Pain Syndrome, Familial, 3:

Name: Episodic Pain Syndrome, Familial, 3 ⁵⁷ ⁷⁵ ²⁹ ⁶ ⁷³

Feps3 ⁵⁷ ⁷⁵

Familial Episodic Pain Syndrome with Predominantly Lower Limb Involvement ⁵⁹

Characteristics:

Orphanet epidemiological data:

⁵⁹

familial episodic pain syndrome with predominantly lower limb involvement
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

⁵⁷

Inheritance:
autosomal dominant

Miscellaneous:
two unrelated chinese families have been reported (last curated november 2013)
onset in early childhood
pain is noted to feel cold
episodes are triggered by fatigue, illness, or strenuous exercise
pain is relieved by antiinflammatory medication
pain tends to occur later in the day
episodes tend to decrease with age
some patients may present with adult-onset small fiber neuropathy

HPO:

³²

episodic pain syndrome, familial, 3:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the musculoskeletal system and connective tissue

Other soft tissue disorders

Other soft tissue disorders, not elsewhere classified

Pain in limb

Orphanet: ⁵⁹

Rare neurological diseases

External Ids:

OMIM ⁵⁷ 615552

Orphanet ⁵⁹ ORPHA391392

ICD10 via Orphanet ³⁴ M79.6

MedGen ⁴² C3809899 CN182247

MeSH ⁴⁴ D010146

SNOMED-CT via HPO ⁶⁹ 263681008 15241006 22253000

UMLS ⁷³ C3809899

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Summaries for Episodic Pain Syndrome, Familial, 3

OMIM : ⁵⁷ Familial episodic pain syndrome is an autosomal dominant disorder characterized by early childhood onset of intense episodic pain mainly affecting the distal lower extremities, but sometimes affecting the upper extremities as well. The pain comes in cycles lasting several days, is exacerbated by fatigue, may be accompanied by sweating, and can be relieved by antiinflammatory medication. Severe episodic pain tends to diminish with age (summary by Zhang et al., 2013). For a discussion of the genetic heterogeneity of familial episodic pain syndrome, see FEPS1 (615040). (615552)

MalaCards based summary : Episodic Pain Syndrome, Familial, 3, is also known as feps3. An important gene associated with Episodic Pain Syndrome, Familial, 3 is SCN11A (Sodium Voltage-Gated Channel Alpha Subunit 11). Related phenotypes are dysautonomia and pain

UniProtKB/Swiss-Prot : ⁷⁵ Episodic pain syndrome, familial, 3: An autosomal dominant neurologic disorder characterized by paroxysmal pain mainly affecting the distal lower extremities and occasionally the upper body, especially the joints of fingers and arms. The pain is exacerbated with fatigue.

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Related Diseases for Episodic Pain Syndrome, Familial, 3

Diseases in the Familial Episodic Pain Syndrome family:

Episodic Pain Syndrome, Familial, 1	Episodic Pain Syndrome, Familial, 2
Episodic Pain Syndrome, Familial, 3

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Symptoms & Phenotypes for Episodic Pain Syndrome, Familial, 3

Symptoms via clinical synopsis from OMIM:

⁵⁷

Skin Nails Hair Skin:
hyperhidrosis occurs during pain episodes

Neurologic Peripheral Nervous System:
pain, episodic, localized mainly to the distal lower extremities although occasionally occurs in the distal upper extremities
other sensory modalities may be normal or diminished

Neurologic:
autonomic dysfunction, variable

Clinical features from OMIM:

615552

Human phenotypes related to Episodic Pain Syndrome, Familial, 3:

³²

#	Description	HPO Frequency	HPO Source Accession
1	dysautonomia ³²	frequent (33%)	HP:0002459
2	pain ³²		HP:0012531

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Drugs & Therapeutics for Episodic Pain Syndrome, Familial, 3

Search Clinical Trials , NIH Clinical Center for Episodic Pain Syndrome, Familial, 3

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Genetic Tests for Episodic Pain Syndrome, Familial, 3

Genetic tests related to Episodic Pain Syndrome, Familial, 3:

#	Genetic test	Affiliating Genes
1	Episodic Pain Syndrome, Familial, 3 ²⁹	SCN11A

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Anatomical Context for Episodic Pain Syndrome, Familial, 3

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Publications for Episodic Pain Syndrome, Familial, 3

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Genes for Episodic Pain Syndrome, Familial, 3

Genes related to Episodic Pain Syndrome, Familial, 3 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	SCN11A	Sodium Voltage-Gated Channel Alpha Subunit 11	Protein Coding	1680.54	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (gain of function) ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	24207120 24776970

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Variations for Episodic Pain Syndrome, Familial, 3

UniProtKB/Swiss-Prot genetic disease variations for Episodic Pain Syndrome, Familial, 3:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	SCN11A	p.Arg225Cys	VAR_070919	rs138607170
2	SCN11A	p.Ala808Gly	VAR_070920	rs483352921
3	SCN11A	p.Arg222His	VAR_076679
4	SCN11A	p.Arg222Ser	VAR_076680
5	SCN11A	p.Ile381Thr	VAR_076682	rs606231280
6	SCN11A	p.Gly699Arg	VAR_076686	rs145734191
7	SCN11A	p.Leu1158Pro	VAR_076688	rs141686175

ClinVar genetic disease variations for Episodic Pain Syndrome, Familial, 3:

⁶

(show top 50) (show all 287)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	SCN11A	NM_001349253.1(SCN11A): c.673C> T (p.Arg225Cys)	single nucleotide variant	Pathogenic	rs138607170	GRCh37	Chromosome 3, 38966945: 38966945
2	SCN11A	NM_001349253.1(SCN11A): c.673C> T (p.Arg225Cys)	single nucleotide variant	Pathogenic	rs138607170	GRCh38	Chromosome 3, 38925454: 38925454
3	SCN11A	NM_001349253.1(SCN11A): c.673C> T (p.Arg225Cys)	single nucleotide variant	Pathogenic	rs138607170	NCBI36	Chromosome 3, 38941949: 38941949
4	SCN11A	NM_014139.2(SCN11A): c.2423C> G (p.Ala808Gly)	single nucleotide variant	Pathogenic	rs483352921	GRCh37	Chromosome 3, 38936436: 38936436
5	SCN11A	NM_014139.2(SCN11A): c.2423C> G (p.Ala808Gly)	single nucleotide variant	Pathogenic	rs483352921	GRCh38	Chromosome 3, 38894945: 38894945
6	SCN11A	NM_014139.2(SCN11A): c.3473T> C (p.Leu1158Pro)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs141686175	GRCh38	Chromosome 3, 38872215: 38872215
7	SCN11A	NM_014139.2(SCN11A): c.3473T> C (p.Leu1158Pro)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs141686175	GRCh37	Chromosome 3, 38913706: 38913706
8	SCN11A	NM_014139.2(SCN11A): c.1142T> C (p.Ile381Thr)	single nucleotide variant	Pathogenic	rs606231280	GRCh38	Chromosome 3, 38909154: 38909154
9	SCN11A	NM_014139.2(SCN11A): c.1142T> C (p.Ile381Thr)	single nucleotide variant	Pathogenic	rs606231280	GRCh37	Chromosome 3, 38950645: 38950645
10	SCN11A	NM_014139.2(SCN11A): c.1730C> T (p.Pro577Leu)	single nucleotide variant	Uncertain significance	rs374524879	GRCh37	Chromosome 3, 38945468: 38945468
11	SCN11A	NM_014139.2(SCN11A): c.1730C> T (p.Pro577Leu)	single nucleotide variant	Uncertain significance	rs374524879	GRCh38	Chromosome 3, 38903977: 38903977
12	SCN11A	NM_014139.2(SCN11A): c.5207G> T (p.Gly1736Val)	single nucleotide variant	Likely benign	rs143852849	GRCh37	Chromosome 3, 38888354: 38888354
13	SCN11A	NM_014139.2(SCN11A): c.5207G> T (p.Gly1736Val)	single nucleotide variant	Likely benign	rs143852849	GRCh38	Chromosome 3, 38846863: 38846863
14	SCN11A	NM_014139.2(SCN11A): c.5037C> T (p.Arg1679=)	single nucleotide variant	Benign	rs61752574	GRCh37	Chromosome 3, 38888524: 38888524
15	SCN11A	NM_014139.2(SCN11A): c.5037C> T (p.Arg1679=)	single nucleotide variant	Benign	rs61752574	GRCh38	Chromosome 3, 38847033: 38847033
16	SCN11A	NM_014139.2(SCN11A): c.4977C> T (p.Val1659=)	single nucleotide variant	Likely benign	rs150087925	GRCh37	Chromosome 3, 38888584: 38888584
17	SCN11A	NM_014139.2(SCN11A): c.4977C> T (p.Val1659=)	single nucleotide variant	Likely benign	rs150087925	GRCh38	Chromosome 3, 38847093: 38847093
18	SCN11A	NM_014139.2(SCN11A): c.4604A> G (p.Lys1535Arg)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 3, 38888957: 38888957
19	SCN11A	NM_014139.2(SCN11A): c.4604A> G (p.Lys1535Arg)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 3, 38847466: 38847466
20	SCN11A	NM_014139.2(SCN11A): c.4230G> A (p.Thr1410=)	single nucleotide variant	Benign	rs78953918	GRCh37	Chromosome 3, 38892069: 38892069
21	SCN11A	NM_014139.2(SCN11A): c.4230G> A (p.Thr1410=)	single nucleotide variant	Benign	rs78953918	GRCh38	Chromosome 3, 38850578: 38850578
22	SCN11A	NM_014139.2(SCN11A): c.3724A> G (p.Asn1242Asp)	single nucleotide variant	Uncertain significance	rs769151002	GRCh37	Chromosome 3, 38912971: 38912971
23	SCN11A	NM_014139.2(SCN11A): c.3724A> G (p.Asn1242Asp)	single nucleotide variant	Uncertain significance	rs769151002	GRCh38	Chromosome 3, 38871480: 38871480
24	SCN11A	NM_014139.2(SCN11A): c.3042A> T (p.Gln1014His)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 3, 38926801: 38926801
25	SCN11A	NM_014139.2(SCN11A): c.3042A> T (p.Gln1014His)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 3, 38885310: 38885310
26	SCN11A	NM_014139.2(SCN11A): c.2693G> A (p.Gly898Asp)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 3, 38936166: 38936166
27	SCN11A	NM_014139.2(SCN11A): c.2693G> A (p.Gly898Asp)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 3, 38894675: 38894675
28	SCN11A	NM_014139.2(SCN11A): c.2530T> C (p.Cys844Arg)	single nucleotide variant	Uncertain significance	rs201598026	GRCh37	Chromosome 3, 38936329: 38936329
29	SCN11A	NM_014139.2(SCN11A): c.2530T> C (p.Cys844Arg)	single nucleotide variant	Uncertain significance	rs201598026	GRCh38	Chromosome 3, 38894838: 38894838
30	SCN11A	NM_014139.2(SCN11A): c.2384C> T (p.Thr795Met)	single nucleotide variant	Uncertain significance	rs767279633	GRCh37	Chromosome 3, 38938355: 38938355
31	SCN11A	NM_014139.2(SCN11A): c.2384C> T (p.Thr795Met)	single nucleotide variant	Uncertain significance	rs767279633	GRCh38	Chromosome 3, 38896864: 38896864
32	SCN11A	NM_014139.2(SCN11A): c.2213C> T (p.Pro738Leu)	single nucleotide variant	Likely benign	rs140995438	GRCh38	Chromosome 3, 38897035: 38897035
33	SCN11A	NM_014139.2(SCN11A): c.2213C> T (p.Pro738Leu)	single nucleotide variant	Likely benign	rs140995438	GRCh37	Chromosome 3, 38938526: 38938526
34	SCN11A	NM_014139.2(SCN11A): c.1904A> G (p.His635Arg)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 3, 38941503: 38941503
35	SCN11A	NM_014139.2(SCN11A): c.1904A> G (p.His635Arg)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 3, 38900012: 38900012
36	SCN11A	NM_014139.2(SCN11A): c.1575T> C (p.Ala525=)	single nucleotide variant	Benign	rs201554884	GRCh37	Chromosome 3, 38946711: 38946711
37	SCN11A	NM_014139.2(SCN11A): c.1575T> C (p.Ala525=)	single nucleotide variant	Benign	rs201554884	GRCh38	Chromosome 3, 38905220: 38905220
38	SCN11A	NM_014139.2(SCN11A): c.1062G> A (p.Arg354=)	single nucleotide variant	Benign	rs73828709	GRCh37	Chromosome 3, 38951596: 38951596
39	SCN11A	NM_014139.2(SCN11A): c.1062G> A (p.Arg354=)	single nucleotide variant	Benign	rs73828709	GRCh38	Chromosome 3, 38910105: 38910105
40	SCN11A	NM_014139.2(SCN11A): c.30T> C (p.Phe10=)	single nucleotide variant	Likely benign	rs139252438	GRCh37	Chromosome 3, 38991824: 38991824
41	SCN11A	NM_014139.2(SCN11A): c.30T> C (p.Phe10=)	single nucleotide variant	Likely benign	rs139252438	GRCh38	Chromosome 3, 38950333: 38950333
42	SCN11A	NM_014139.2(SCN11A): c.5334G> A (p.Leu1778=)	single nucleotide variant	Benign	rs4640498	GRCh38	Chromosome 3, 38846736: 38846736
43	SCN11A	NM_014139.2(SCN11A): c.5334G> A (p.Leu1778=)	single nucleotide variant	Benign	rs4640498	GRCh37	Chromosome 3, 38888227: 38888227
44	SCN11A	NM_001349253.1(SCN11A): c.5261_5270dup (p.Asp1758Terfs)	duplication	Uncertain significance		GRCh38	Chromosome 3, 38846800: 38846809
45	SCN11A	NM_001349253.1(SCN11A): c.5261_5270dup (p.Asp1758Terfs)	duplication	Uncertain significance		GRCh37	Chromosome 3, 38888291: 38888300
46	SCN11A	NM_014139.2(SCN11A): c.5229C> G (p.Ala1743=)	single nucleotide variant	Likely benign	rs763503543	GRCh38	Chromosome 3, 38846841: 38846841
47	SCN11A	NM_014139.2(SCN11A): c.5229C> G (p.Ala1743=)	single nucleotide variant	Likely benign	rs763503543	GRCh37	Chromosome 3, 38888332: 38888332
48	SCN11A	NM_014139.2(SCN11A): c.5169C> T (p.Pro1723=)	single nucleotide variant	Benign	rs116714494	GRCh37	Chromosome 3, 38888392: 38888392
49	SCN11A	NM_014139.2(SCN11A): c.5169C> T (p.Pro1723=)	single nucleotide variant	Benign	rs116714494	GRCh38	Chromosome 3, 38846901: 38846901
50	SCN11A	NM_014139.2(SCN11A): c.5067C> G (p.Phe1689Leu)	single nucleotide variant	Uncertain significance	rs201107889	GRCh37	Chromosome 3, 38888494: 38888494

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Expression for Episodic Pain Syndrome, Familial, 3

Search GEO for disease gene expression data for Episodic Pain Syndrome, Familial, 3.

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Pathways for Episodic Pain Syndrome, Familial, 3

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GO Terms for Episodic Pain Syndrome, Familial, 3

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