PERYTHM
MCID: ERY029
MIFTS: 43

Erythermalgia, Primary (PERYTHM) malady

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Erythermalgia, Primary

Aliases & Descriptions for Erythermalgia, Primary:

Name: Erythermalgia, Primary 54 13
Small Fiber Neuropathy 54 24 25 29 69
Primary Erythermalgia 56 66 69
Sfnp 24 25
Small Nerve Fiber Neuropathy 25
Perythm 66
Sfn 25

Characteristics:

Orphanet epidemiological data:

56
primary erythermalgia
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

HPO:

32
erythermalgia, primary:
Inheritance autosomal dominant inheritance
Onset and clinical course juvenile onset


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 133020
Orphanet 56 ORPHA90026
ICD10 via Orphanet 34 I73.8

Summaries for Erythermalgia, Primary

OMIM : 54 'Primary erythermalgia' is an autosomal dominant disorder characterized by childhood or adolescent onset of episodic... (133020) more...

MalaCards based summary : Erythermalgia, Primary, also known as small fiber neuropathy, is related to sodium channelopathy-related small fiber neuropathy and breast cancer, and has symptoms including constipation, myalgia and pain. An important gene associated with Erythermalgia, Primary is SCN9A (Sodium Voltage-Gated Channel Alpha Subunit 9), and among its related pathways/superpathways are Activation of cAMP-Dependent PKA and Developmental Biology. The drugs Carbamazepine and Analgesics have been mentioned in the context of this disorder. Affiliated tissues include skin and eye, and related phenotype is integument.

Genetics Home Reference : 25 Small fiber neuropathy is a condition characterized by severe pain attacks that typically begin in the feet or hands. As a person ages, the pain attacks can affect other regions. Some people initially experience a more generalized, whole-body pain. The attacks usually consist of pain described as stabbing or burning, or abnormal skin sensations such as tingling or itchiness. In some individuals, the pain is more severe during times of rest or at night. The signs and symptoms of small fiber neuropathy usually begin in adolescence to mid-adulthood.

UniProtKB/Swiss-Prot : 66 Primary erythermalgia: Autosomal dominant disease characterized by recurrent episodes of severe pain associated with redness and warmth in the feet or hands.

Related Diseases for Erythermalgia, Primary

Graphical network of the top 20 diseases related to Erythermalgia, Primary:



Diseases related to Erythermalgia, Primary

Symptoms & Phenotypes for Erythermalgia, Primary

Symptoms by clinical synopsis from OMIM:

133020

Clinical features from OMIM:

133020

Human phenotypes related to Erythermalgia, Primary:

32 (show all 10)
id Description HPO Frequency HPO Source Accession
1 constipation 32 HP:0002019
2 myalgia 32 HP:0003326
3 pain 32 HP:0012531
4 blurred vision 32 HP:0000622
5 diarrhea 32 HP:0002014
6 hyperhidrosis 32 HP:0000975
7 dysautonomia 32 HP:0002459
8 xerostomia 32 HP:0000217
9 abnormality of the musculature 32 HP:0003011
10 palpitations 32 HP:0001962

UMLS symptoms related to Erythermalgia, Primary:


constipation, diarrhea, pruritus, myalgia, jaw pain, dryness of eye, blurred vision, neuralgia

MGI Mouse Phenotypes related to Erythermalgia, Primary:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 8.8 SCN10A SCN11A SCN9A

Drugs & Therapeutics for Erythermalgia, Primary

Drugs for Erythermalgia, Primary (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 38)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carbamazepine Approved, Investigational Phase 4 298-46-4 2554
2 Analgesics Phase 4,Phase 2
3 Analgesics, Non-Narcotic Phase 4
4 Anticonvulsants Phase 4,Phase 3,Phase 2
5 Antimanic Agents Phase 4
6 Central Nervous System Depressants Phase 4,Phase 2
7 Cytochrome P-450 CYP3A Inducers Phase 4
8 Peripheral Nervous System Agents Phase 4,Phase 2
9 Psychotropic Drugs Phase 4,Phase 2
10 Tranquilizing Agents Phase 4,Phase 2
11
Lacosamide Approved Phase 3 860352-01-8, 175481-36-4 219078
12
Pregabalin Approved, Illicit, Investigational Phase 2 148553-50-8 5486971
13 Pharmaceutical Solutions Phase 2
14 Antibodies Phase 2
15 gamma-Globulins Phase 2
16 Immunoglobulins Phase 2
17 Immunoglobulins, Intravenous Phase 2
18 Rho(D) Immune Globulin Phase 2
19 Anti-Anxiety Agents Phase 2
20 calcium channel blockers Phase 2
21 Calcium, Dietary Phase 2
22 Excitatory Amino Acid Antagonists Phase 2
23 Excitatory Amino Acids Phase 2
24 Neurotransmitter Agents Phase 2
25 Glutamic Acid Nutraceutical Phase 2
26
Acetylcholine Approved 51-84-3 187
27
Ethanol Approved 64-17-5 702
28
Capsaicin Approved 404-86-4 1548943
29
Lidocaine Approved, Vet_approved 137-58-6 3676
30
Prilocaine Approved 721-50-6 4906
31 Anesthetics
32 Anesthetics, Local
33 Anti-Arrhythmia Agents
34 Antipruritics
35 Dermatologic Agents
36 Diuretics, Potassium Sparing
37 EMLA
38 Sodium Channel Blockers

Interventional clinical trials:

(show all 15)
id Name Status NCT ID Phase
1 Carbamazapine for Inherited Erythromelalgia Patients With NaV1.7 Mutations Completed NCT02214615 Phase 4
2 Safety and Tolerability of Lacosamide in Patients With Gain-of-function Nav1.7 Mutations Related Small Fiber Neuropathy Active, not recruiting NCT01911975 Phase 3
3 Phase 2a, Exploratory Study to Evaluate the Safety, Efficacy, Tolerability and Pharmacokinetics of XPF-002 in Patients With Primary/Inherited Erythromelalgia Completed NCT01486446 Phase 1, Phase 2
4 Study of XPF-001 in the Treatment of Pain From Primary/Inherited Erythromelalgia (IEM) Completed NCT01090622 Phase 1, Phase 2
5 A Phase 2a Study of BIIB074 in the Treatment of Erythromelalgia Completed NCT02917187 Phase 2
6 Evaluation Of The Efficacy And Safety Of Single Doses Of PF-05089771 In Patients With Primary (Inherited) Erythromelalgia Completed NCT01769274 Phase 2
7 Intravenous Immunoglobulin Therapy for Small Fiber Neuropathy Recruiting NCT02637700 Phase 2
8 Efficacy and Safety of Pregabalin in Treatment of Neuropathic Pain in Patients With Idiopathic Small Fiber Neuropathy Recruiting NCT02607254 Phase 2
9 Fycompa in Subjects With Small Fiber Neuropathy (SFN) Active, not recruiting NCT02511873 Phase 2
10 Diabetes Peripheral Neuropathy and Small-fibre Nerve Damage: A Comparative Study Completed NCT01160887
11 Nutritional Supplementation With Agmatine Sulfate During Small Fiber Neuropathy Recruiting NCT01524666
12 Assessment of Small Fiber Neuropathy in Rare Diseases Using Sudoscan Recruiting NCT02985710
13 Autofluorescent Flavoprotein Imaging of Intraepidermal Nerve Fibers: a Pilot Study Enrolling by invitation NCT02537951
14 Spinal Cord Stimulation in Small Fibre Neuropathy Not yet recruiting NCT02905396
15 Evaluation of Pregabalin in Idiopathic Small Fiber Neuropathy Suspended NCT00787462

Search NIH Clinical Center for Erythermalgia, Primary

Genetic Tests for Erythermalgia, Primary

Genetic tests related to Erythermalgia, Primary:

id Genetic test Affiliating Genes
1 Small Fiber Neuropathy 29 24 SCN9A

Anatomical Context for Erythermalgia, Primary

MalaCards organs/tissues related to Erythermalgia, Primary:

39
Skin, Eye

Publications for Erythermalgia, Primary

Variations for Erythermalgia, Primary

UniProtKB/Swiss-Prot genetic disease variations for Erythermalgia, Primary:

66 (show all 11)
id Symbol AA change Variation ID SNP ID
1 SCN9A p.Ile859Thr VAR_019947 rs80356474
2 SCN9A p.Leu869His VAR_019948 rs80356475
3 SCN9A p.Ser241Thr VAR_032014 rs80356470
4 SCN9A p.Phe1460Val VAR_032019 rs80356478
5 SCN9A p.Gln10Arg VAR_064595 rs267607030
6 SCN9A p.Phe216Ser VAR_064598 rs80356469
7 SCN9A p.Asn395Lys VAR_064600 rs80356471
8 SCN9A p.Glu406Lys VAR_064601
9 SCN9A p.Leu869Phe VAR_064609 rs80356476
10 SCN9A p.Ala1643Glu VAR_072280
11 SCN9A p.Ala1643Thr VAR_072281

ClinVar genetic disease variations for Erythermalgia, Primary:

6 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1 SCN9A NM_002977.3(SCN9A): c.2573T> A (p.Leu858His) single nucleotide variant Pathogenic rs80356475 GRCh37 Chromosome 2, 167133761: 167133761
2 SCN9A NM_002977.3(SCN9A): c.2543T> C (p.Ile848Thr) single nucleotide variant Pathogenic rs80356474 GRCh37 Chromosome 2, 167133791: 167133791
3 SCN9A NM_002977.3(SCN9A): c.721T> A (p.Ser241Thr) single nucleotide variant Pathogenic rs80356470 GRCh37 Chromosome 2, 167159780: 167159780
4 SCN9A NM_002977.3(SCN9A): c.4345T> G (p.Phe1449Val) single nucleotide variant Pathogenic rs80356478 GRCh37 Chromosome 2, 167083097: 167083097
5 SCN9A NM_002977.3(SCN9A): c.2572C> T (p.Leu858Phe) single nucleotide variant Pathogenic rs80356476 GRCh37 Chromosome 2, 167133762: 167133762
6 SCN9A NM_002977.3(SCN9A): c.647T> C (p.Phe216Ser) single nucleotide variant Pathogenic rs80356469 GRCh37 Chromosome 2, 167160789: 167160789
7 SCN9A NM_002977.3(SCN9A): c.1185C> A (p.Asn395Lys) single nucleotide variant Pathogenic rs80356471 GRCh37 Chromosome 2, 167145076: 167145076
8 SCN9A NM_002977.3(SCN9A): c.2468T> G (p.Leu823Arg) single nucleotide variant Pathogenic rs80356473 GRCh37 Chromosome 2, 167134666: 167134666
9 SCN9A NM_002977.3(SCN9A): c.2587G> C (p.Ala863Pro) single nucleotide variant Pathogenic rs80356477 GRCh37 Chromosome 2, 167133747: 167133747
10 SCN9A NM_002977.3(SCN9A): c.406A> G (p.Ile136Val) single nucleotide variant Pathogenic rs80356468 GRCh37 Chromosome 2, 167163081: 167163081
11 SCN9A NM_002977.3(SCN9A): c.1867G> A (p.Asp623Asn) single nucleotide variant Pathogenic rs200398202 GRCh37 Chromosome 2, 167141070: 167141070

Expression for Erythermalgia, Primary

Search GEO for disease gene expression data for Erythermalgia, Primary.

Pathways for Erythermalgia, Primary

Pathways related to Erythermalgia, Primary according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.89 SCN10A SCN11A SCN9A
2
Show member pathways
12.82 SCN10A SCN11A SCN9A
3
Show member pathways
12.34 SCN10A SCN11A SCN9A
4
Show member pathways
12.27 SCN10A SCN11A SCN9A
5
Show member pathways
12.09 SCN10A SCN11A SCN9A
6 11.94 SCN10A SCN11A SCN9A
7
Show member pathways
11.43 SCN10A SCN11A SCN9A
8
Show member pathways
11.01 SCN10A SCN11A SCN9A
9 10.28 SCN10A SCN11A SCN9A

GO Terms for Erythermalgia, Primary

Cellular components related to Erythermalgia, Primary according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 voltage-gated sodium channel complex GO:0001518 8.8 SCN10A SCN11A SCN9A

Biological processes related to Erythermalgia, Primary according to GeneCards Suite gene sharing:

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 transport GO:0006810 9.67 SCN10A SCN11A SCN9A
2 ion transport GO:0006811 9.63 SCN10A SCN11A SCN9A
3 transmembrane transport GO:0055085 9.58 SCN10A SCN11A SCN9A
4 regulation of ion transmembrane transport GO:0034765 9.54 SCN10A SCN11A SCN9A
5 sodium ion transport GO:0006814 9.5 SCN10A SCN11A SCN9A
6 ion transmembrane transport GO:0034220 9.48 SCN11A SCN9A
7 sensory perception of pain GO:0019233 9.43 SCN10A SCN9A
8 sodium ion transmembrane transport GO:0035725 9.43 SCN10A SCN11A SCN9A
9 regulation of postsynaptic membrane potential GO:0060078 9.33 SCN10A SCN11A SCN9A
10 neuronal action potential GO:0019228 9.13 SCN10A SCN11A SCN9A
11 membrane depolarization during action potential GO:0086010 8.8 SCN10A SCN11A SCN9A

Molecular functions related to Erythermalgia, Primary according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 9.43 SCN10A SCN11A SCN9A
2 ion channel activity GO:0005216 9.33 SCN10A SCN11A SCN9A
3 sodium channel activity GO:0005272 9.13 SCN10A SCN11A SCN9A
4 voltage-gated sodium channel activity GO:0005248 8.8 SCN10A SCN11A SCN9A

Sources for Erythermalgia, Primary

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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