MCID: ERY029
MIFTS: 54

Erythermalgia, Primary

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Erythermalgia, Primary

MalaCards integrated aliases for Erythermalgia, Primary:

Name: Erythermalgia, Primary 57 13
Small Fiber Neuropathy 57 25 29 6 73
Primary Erythermalgia 59 75 73
Erythromelalgia, Primary 57 40
Small Nerve Fiber Neuropathy 25
Erythromelalgia, Familial 57
Perythm 75
Sfnp 25
Sfn 25

Characteristics:

Orphanet epidemiological data:

59
primary erythermalgia
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset usually in childhood or adolescence
relief is achieved by cooling or by elevating the extremities
disorder may progress to involve a larger body area
adult-onset is referred to as small fiber neuropathy


HPO:

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


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Erythermalgia, Primary

OMIM : 57 'Primary erythermalgia' is an autosomal dominant disorder characterized by childhood or adolescent onset of episodic symmetrical red congestion, vasodilatation, and burning pain of the feet and lower legs provoked by exercise, long standing, and exposure to warmth. Relief is obtained with cold (Michiels et al., 2005). The severity of the disorder may progress with age, and symptoms may extend over a larger body area, such as over the ankles and lower legs, and become constant (Mandell et al., 1977). Waxman and Dib-Hajj (2005) provided a review of primary erythermalgia. Although 'primary' or 'familial erythromelalgia' are sometimes used as alternative terms for primary erythermalgia (Waxman and Dib-Hajj, 2005), secondary erythromelalgia is a distinct acquired disorder associated with thrombocythemia or myeloproliferative disorders. It has relatively late onset and symptoms are caused by platelet aggregation in end-arteriolar circulation, leading to ischemia and symptoms (Michiels and van Joost, 1990). Treatment with aspirin, which irreversibly inhibits platelet cyclooxygenase activity, affords relief from acquired erythromelalgia (Michiels et al., 1984; Drenth et al., 1996). Similarly, acquired erythromelalgia vanishes with lowering the platelet count to normal with chemotherapy (Michiels et al., 1985). Van Genderen et al. (1993) emphasized the distinction between hereditary erythermalgia and acquired erythromelalgia. In primary erythermalgia, the burning pain, redness, and warmth of feet and lower legs, with relative sparing of the toes, are easily provoked by warmth and exercise. In contrast, in acquired erythromelalgia the burning pain and red congestion preferentially involves one or more toes or fingers or sole of the forefoot (Michiels and van Joost, 1990). Van Genderen et al. (1993) noted that 3 of the 5 patients reported by Smith and Allen (1938) were not consistent with the diagnosis of primary erythromelalgia because the symptoms were relieved promptly by aspirin, consistent with acquired erythromelalgia. (133020)

MalaCards based summary : Erythermalgia, Primary, also known as small fiber neuropathy, is related to sodium channelopathy-related small fiber neuropathy and erythromelalgia, and has symptoms including constipation, diarrhea and pruritus. 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 Lacosamide and Anticonvulsants have been mentioned in the context of this disorder. Affiliated tissues include skin, testes and eye, and related phenotypes are xerostomia and blurred vision

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 : 75 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 via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
hyperhidrosis
reddish or purplish skin discoloration, episodic, associated with pain
decreased intraepithelial nerve fiber density

Head And Neck Eyes:
blurred vision
dry eyes

Head And Neck Face:
jaw pain

Muscle Soft Tissue:
swelling of the affected areas
muscle pain
myalgias

Abdomen Gastrointestinal:
constipation
diarrhea

Cardiovascular Heart:
palpitations

Head And Neck Mouth:
dry mouth

Neurologic Peripheral Nervous System:
burning pain, episodic, typically in the distal extremities, particularly the hands and feet (bilateral, symmetric), triggered by warm stimuli, exercise, standing
itching
impaired distal temperature sensation
hypoesthesia over affected areas
autonomic dysfunction (in some patients)


Clinical features from OMIM:

133020

Human phenotypes related to Erythermalgia, Primary:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 xerostomia 32 HP:0000217
2 blurred vision 32 HP:0000622
3 abnormality of the nervous system 32 HP:0000707
4 hyperhidrosis 32 HP:0000975
5 keratoconjunctivitis sicca 32 HP:0001097
6 palpitations 32 HP:0001962
7 diarrhea 32 HP:0002014
8 constipation 32 HP:0002019
9 dysautonomia 32 occasional (7.5%) HP:0002459
10 abnormality of the musculature 32 HP:0003011
11 myalgia 32 HP:0003326
12 jaw pain 32 HP:0040264

UMLS symptoms related to Erythermalgia, Primary:


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

MGI Mouse Phenotypes related to Erythermalgia, Primary:

46
# 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 top 50) (show all 83)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lacosamide Approved Phase 3 860352-01-8, 175481-36-4 219078
2 Anticonvulsants Phase 3,Phase 2,Phase 1,Not Applicable
3
Pregabalin Approved, Illicit, Investigational Phase 2,Phase 1,Not Applicable 148553-50-8 5486971
4
Glutamic Acid Approved, Nutraceutical Phase 2 56-86-0 33032
5 Excitatory Amino Acid Antagonists Phase 2
6 Excitatory Amino Acids Phase 2
7 Neurotransmitter Agents Phase 2,Not Applicable
8 Antibodies Phase 2,Not Applicable
9 Immunoglobulins Phase 2,Not Applicable
10 Anti-Inflammatory Agents Phase 2
11 Analgesics Phase 2,Phase 1,Not Applicable
12 Anti-Anxiety Agents Phase 2,Phase 1,Not Applicable
13 calcium channel blockers Phase 2,Phase 1,Not Applicable
14 Calcium, Dietary Phase 2,Phase 1,Not Applicable
15 Central Nervous System Depressants Phase 2,Phase 1,Not Applicable
16 Peripheral Nervous System Agents Phase 2,Phase 1,Not Applicable
17 Psychotropic Drugs Phase 2,Phase 1,Not Applicable
18 Tranquilizing Agents Phase 2,Phase 1,Not Applicable
19 gamma-Globulins Phase 2
20 Immunoglobulins, Intravenous Phase 2
21 Rho(D) Immune Globulin Phase 2
22 Autoantibodies Phase 2
23 Pharmaceutical Solutions Phase 2
24
Capsaicin Approved Phase 1,Not Applicable 404-86-4 1548943
25 Antipruritics Phase 1,Not Applicable
26 Dermatologic Agents Phase 1,Not Applicable
27
Hydrogen peroxide Approved, Vet_approved Not Applicable 7722-84-1 784
28
Hydroxocobalamin Approved Not Applicable 13422-51-0 11953898 44475014
29
Bortezomib Approved, Investigational 179324-69-7 387447 93860
30
Acetylcholine Approved Not Applicable 51-84-3 187
31
Ethanol Approved Not Applicable 64-17-5 702
32
Linagliptin Approved Not Applicable 668270-12-0 10096344
33
Metformin Approved Not Applicable 657-24-9 14219 4091
34
Gliclazide Approved Not Applicable 21187-98-4 3475
35
Insulin Aspart Approved Not Applicable 116094-23-6 16132418
36
Insulin Glargine Approved Not Applicable 160337-95-1
37
Liraglutide Approved Not Applicable 204656-20-2 44147092
38
Pioglitazone Approved, Investigational Not Applicable 111025-46-8 4829
39
Zinc Approved, Investigational Not Applicable 7440-66-6 23994
40
Lidocaine Approved, Vet_approved Not Applicable 137-58-6 3676
41
Prilocaine Approved Not Applicable 721-50-6 4906
42
Menthol Approved Not Applicable 2216-51-5 16666
43
Milnacipran Approved, Investigational Not Applicable 92623-85-3 65833
44
Biotin Approved, Investigational, Nutraceutical Not Applicable 58-85-5 171548
45
Cyanocobalamin Approved, Nutraceutical Not Applicable 68-19-9 44176380
46
Folic Acid Approved, Nutraceutical, Vet_approved Not Applicable 59-30-3 6037
47
Methylcobalamin Approved, Experimental, Investigational, Nutraceutical Not Applicable 13422-55-4
48 Immune Sera Not Applicable
49 Immunoglobulin G Not Applicable
50 Paraform Not Applicable

Interventional clinical trials:

(show all 47)
# Name Status NCT ID Phase Drugs
1 Safety and Tolerability of Lacosamide in Patients With Gain-of-function Nav1.7 Mutations Related Small Fiber Neuropathy Completed NCT01911975 Phase 3 Lacosamide;Placebo
2 An Extension of Study Fx-005 Evaluating Long-Term Safety And Clinical Outcomes Of Fx-1006A In Patients With Transthyretin Amyloid Polyneuropathy Completed NCT00791492 Phase 2, Phase 3 Fx-1006A
3 Safety and Efficacy Study of Fx-1006A in Patients With Familial Amyloidosis Completed NCT00409175 Phase 2, Phase 3 Fx-1006A;Placebo
4 Fycompa in Subjects With Small Fiber Neuropathy (SFN) Unknown status NCT02511873 Phase 2 Fycompa;Placebo
5 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 XPF-002;Placebo
6 Study of XPF-001 in the Treatment of Pain From Primary/Inherited Erythromelalgia (IEM) Completed NCT01090622 Phase 1, Phase 2 XPF-001;Placebo
7 Study of Efficacy of ARA 290 on Corneal Nerve Fiber Density and Neuropathic Symptoms of Subjects With Sarcoidosis Completed NCT02039687 Phase 2 ARA 290
8 The Effects of Fx-1006A on Transthyretin Stabilization and Clinical Outcome Measures in Patients With Non-V30M Transthyretin Amyloidosis Completed NCT00630864 Phase 2 Fx-1006A
9 Intravenous Immunoglobulin Therapy for Small Fiber Neuropathy Recruiting NCT02637700 Phase 2 Intravenous Immunoglobulin;Placebo
10 A Study to Evaluate the Efficacy and Safety of VX-150 in Treating Subjects With Pain Caused by Small Fiber Neuropathy Recruiting NCT03304522 Phase 2 VX-150;Placebo
11 Efficacy and Safety of Pregabalin in Treatment of Neuropathic Pain in Patients With Idiopathic Small Fiber Neuropathy Recruiting NCT02607254 Phase 2 Pregabalin;Placebo
12 Efficacy and Safety Study of BIIB074 in Participants With Small Fibre Neuropathy Recruiting NCT03339336 Phase 2 BIIB074;Placebo
13 IVIg for Small Fiber Neuropathy With Autoantibodies TS-HDS and FGFR3 Not yet recruiting NCT03401073 Phase 2 Intravenous immunoglobulin;0.9% Sodium Chloride
14 Neuropathic Pain Syndrome Patient Study (MK-0000-072) Completed NCT00570310 Phase 1 Comparator: pregabalin;Comparator: Placebo (unspecified)
15 The Effect of Ablation of Epidermal Nerve Fibers Using Capsaicin Cream Completed NCT01883102 Phase 1 Capsaicin 0.1%;Placebo
16 Titration Study of ABX-1431 Recruiting NCT03447756 Phase 1 ABX-1431;Placebo oral capsule
17 Small-fiber Neuropathy in Chronic Kidney Disease Unknown status NCT01078857 Not Applicable
18 Primary Sjögren Syndrome Unknown status NCT01989819
19 Metanx Effects on Nerve Fiber Density in Neuropathic Diabetics Unknown status NCT01503892 Not Applicable Placebo
20 Normative Data of Intra-epidermal Nerve Fiber Density Unknown status NCT01498211 Not Applicable
21 Changes in Skin Innervation of Neurologically Asymptomatic Type 2 Diabetic Patients: the Correlation With the Diabetic Parameters and Neurotrophins. Unknown status NCT00155142
22 Probing the Role of Sodium Channels in Painful Neuropathies Unknown status NCT02243475
23 Diabetes Peripheral Neuropathy and Small-fibre Nerve Damage: A Comparative Study Completed NCT01160887
24 Skin Biopsies in Chemotherapy-Induced Neuropathy Completed NCT00956033
25 Neuropathic Pain and Fabry Disease Completed NCT00168974
26 Quantitative Sensory Testing in Subjects With Sensitive Skin or Not Completed NCT03081403 Not Applicable
27 Vascular and Neurologic Exploration of Small Nervous Fiber by Sudoscanner and QST Completed NCT03044340 Not Applicable
28 Physical Training in Sarcoidosis Patients Completed NCT02243995 Not Applicable
29 Assessment of the Prevalence of Small Fiber Peripheral Neuropathy Among Non-diabetic Obese Patients Completed NCT02767583 Not Applicable
30 Sudoscan in Patients With Autoimmune Disorders Completed NCT02434458
31 Burden of Disease Study In Patients With Transthyretin Familial Amyloidosis Polyneuropathy (TTR-FAP) orTransthyretin Cardiomyopathy (TTR-CM) And Caregivers Completed NCT01604122
32 Spinal Cord Stimulation in Small Fibre Neuropathy Recruiting NCT02905396 Not Applicable
33 Prevalence and Characteristics of Fabry Disease (FD) in Patients With Stroke or Small Fiber Neuropathy Recruiting NCT03230149
34 A Pilot Study of Small Fiber Neuropathy Prevalence in Fibromyalgia Patients Compared to Healthy Subjects Using Sudoscan® Recruiting NCT03347669 Not Applicable
35 Assessment of Small Fiber Neuropathy in Rare Diseases Using Sudoscan Recruiting NCT02985710 Not Applicable
36 Dorsal Root Ganglion Stimulation for the Management of Painful Intractable Small Fibre Neuropathy: Recruiting NCT02435004 Not Applicable
37 Nutritional Supplementation With Agmatine Sulfate During Small Fiber Neuropathy Recruiting NCT01524666
38 Metabolism, Muscle Function and Psychological Factors in Fibromyalgia Recruiting NCT03300635 Not Applicable
39 Prevention of Microvascular Complications in Prediabetes e-PREDICE Study Recruiting NCT03222765 Not Applicable Placebo, metformin, linagliptin, linagliptin + metformin
40 HbA1c Variability in Type II Diabetes Recruiting NCT02879409 Not Applicable Metformin;Gliclazide;Sitagliptin;Liraglutide;Pioglitazone;Dapagliflozin;human insulin
41 Comparison of the Analgesic Effect Between the Motor Cortex Stimulation and the Trans-spinal Stimulation in the Algoneurodystrophy. Recruiting NCT02817880 Not Applicable
42 A Long-term Follow-up Study of Gaucher Disease Recruiting NCT03190837
43 Autofluorescent Flavoprotein Imaging of Intraepidermal Nerve Fibers: a Pilot Study Enrolling by invitation NCT02537951 Not Applicable
44 The Early Intervention and Prevention of Diabetes Foot Enrolling by invitation NCT03133819 Not Applicable
45 Medico-economic and Quality of Life Impact of Sjogren-associated Small Fiber Neuropathy Not yet recruiting NCT03509064
46 Evaluation of Pregabalin in Idiopathic Small Fiber Neuropathy Terminated NCT00787462 Not Applicable Pregabalin;Placebo
47 A Placebo Controlled, Randomized, Double Blind Trial of Milnacipran for the Treatment of Idiopathic Neuropathy Pain Terminated NCT01288937 Not Applicable Milnacipran;Placebo

Search NIH Clinical Center for Erythermalgia, Primary

Genetic Tests for Erythermalgia, Primary

Genetic tests related to Erythermalgia, Primary:

# Genetic test Affiliating Genes
1 Small Fiber Neuropathy 29

Anatomical Context for Erythermalgia, Primary

MalaCards organs/tissues related to Erythermalgia, Primary:

41
Skin, Testes, Eye, Dorsal Root Ganglion, Spinal Cord, Kidney, Cortex

Publications for Erythermalgia, Primary

Articles related to Erythermalgia, Primary:

(show top 50) (show all 142)
# Title Authors Year
1
Incidence of nonamyloidogenic mutations in the transthyretin gene in patients with autonomic and small fiber neuropathy. ( 28556268 )
2018
2
Small fiber neuropathy: a disabling and underrecognized syndrome. ( 28639956 )
2017
3
Small fiber neuropathy presenting during the antecedent period of undifferentiated arthritis prior to rheumatoid arthritis. ( 29431174 )
2017
4
Pyridoxine Toxicity Small Fiber Neuropathy With Dysautonomia: A Case Report. ( 28827489 )
2017
5
The histopathological evaluation of small fiber neuropathy in patients with vitamin B12 deficiency. ( 29052170 )
2017
6
Small fiber neuropathy is a common feature of Ehlers-Danlos syndromes. ( 27306637 )
2016
7
The Detection of Small-Fiber Neuropathies in Burning Mouth Syndrome and Iatrogenic Lingual Nerve Injuries: Use of Quantitative Sensory Testing. ( 27128472 )
2016
8
Small Fiber Neuropathy in Children: Two Case Reports Illustrating the Importance of Recognition. ( 27660061 )
2016
9
Presence of Decreased Intraepidermal Nerve Fiber Density Consistent with Small Fiber Neuropathy in Patients with Central Post-Stroke Pain. ( 26893113 )
2016
10
Automated PGP9.5 immunofluorescence staining: a valuable tool in the assessment of small fiber neuropathy? ( 27215701 )
2016
11
Evidence of small fiber neuropathy in a patient with Ehlers-Danlos syndrome, hypermobility-type. ( 26750577 )
2016
12
NRP-1 Receptor Expression Mismatch in Skin of Subjects with Experimental and Diabetic Small Fiber Neuropathy. ( 27598321 )
2016
13
Small fiber neuropathy in a woman with fragile X-associated tremor/ataxia syndrome (FXTAS). ( 25488474 )
2015
14
Small fiber neuropathy in Parkinson's disease: A clinical, pathological and corneal confocal microscopy study. ( 26578039 )
2015
15
Author Response: Small Fiber Neuropathy and Wilson Disease. ( 26275130 )
2015
16
Routine use of punch biopsy to diagnose small fiber neuropathy in fibromyalgia patients. ( 25535201 )
2015
17
Corneal Confocal Microscopy Identifies Small-Fiber Neuropathy in Subjects With Impaired Glucose Tolerance Who Develop Type 2 Diabetes. ( 25877814 )
2015
18
Small-fiber neuropathy in pompe disease: first reported cases and prospective screening of a clinic cohort. ( 25835646 )
2015
19
Perineural granulomas in cutaneous sarcoidosis may be associated with sarcoidosis small fiber neuropathy. ( 25757612 )
2015
20
Combining cutaneous silent periods with quantitative sudomotor axon reflex testing in the assessment of diabetic small fiber neuropathy. ( 25449560 )
2015
21
Hypothesis: Human papillomavirus vaccination syndrome--small fiber neuropathy and dysautonomia could be its underlying pathogenesis. ( 25990003 )
2015
22
Small Fiber Neuropathy and Wilson Disease. ( 26275129 )
2015
23
Corneal confocal microscopy shows an improvement in small-fiber neuropathy in subjects with type 1 diabetes on continuous subcutaneous insulin infusion compared with multiple daily injection. ( 25538321 )
2015
24
Imaging signatures of altered brain responses in small-fiber neuropathy: reduced functional connectivity of the limbic system after peripheral nerve degeneration. ( 25734991 )
2015
25
Neuroprotective effect of erythropoietin against pressure ulcer in a mouse model of small fiber neuropathy. ( 25422898 )
2014
26
Small-fiber neuropathy with cardiac denervation in postural tachycardia syndrome. ( 24647968 )
2014
27
Small fiber neuropathy associated with hyperlipidemia: utility of cutaneous silent periods and autonomic tests. ( 25006499 )
2014
28
Idiopathic small fiber neuropathy: phenotype, etiologies, and the search for fabry disease. ( 24829596 )
2014
29
Fibromyalgia syndrome and small-fiber neuropathy. ( 25186210 )
2014
30
Cryptogenic stroke and small fiber neuropathy of unknown etiology in patients with alpha-galactosidase A -10T genotype. ( 25423912 )
2014
31
Treating small fiber neuropathy by topical application of a small molecule modulator of ligand-induced GFRI+/RET receptor signaling. ( 24449858 )
2014
32
ARA 290 for treatment of small fiber neuropathy in sarcoidosis. ( 24555851 )
2014
33
Autonomic evaluation is independent of somatic evaluation for small fiber neuropathy. ( 24972819 )
2014
34
Contact heat evoked potentials: Normal values and use in small fiber neuropathy. ( 25256002 )
2014
35
Incidence and prevalence of small-fiber neuropathy: a survey in the Netherlands. ( 24733860 )
2014
36
Optimizing temperature threshold testing in small fiber neuropathy. ( 25290248 )
2014
37
Acute small fiber neuropathy following Mycoplasma infection: a rare variant of Guillain-BarrAc syndrome. ( 24872212 )
2014
38
Fibromyalgia and small fiber neuropathy. ( 25132675 )
2014
39
Dermal innervation in healthy subjects and small fiber neuropathy patients: a stereological reappraisal. ( 23521644 )
2013
40
Assessment of small fiber neuropathy to predict future risk of type 2 diabetes. ( 24076379 )
2013
41
Cramps and small-fiber neuropathy. ( 23813593 )
2013
42
Case study: use of vibration therapy in the treatment of diabetic peripheral small fiber neuropathy. ( 23561872 )
2013
43
Sudoscan, a noninvasive tool for detecting diabetic small fiber neuropathy and autonomic dysfunction. ( 23889506 )
2013
44
SjAPgren Syndrome-Associated Small Fiber Neuropathy: Characterization From a Prospective Series of 40 Cases. ( 23982054 )
2013
45
A human model of small fiber neuropathy to study wound healing. ( 23382960 )
2013
46
Usefulness of skin biopsies in the evaluation and management of patients with suspected small fiber neuropathy. ( 22947232 )
2013
47
Small-fiber neuropathy Nav1.8 mutation shifts activation to hyperpolarized potentials and increases excitability of dorsal root ganglion neurons. ( 23986244 )
2013
48
Axon reflex flare and quantitative sudomotor axon reflex contribute in the diagnosis of small fiber neuropathy. ( 23180613 )
2013
49
Successful use of flupirtine in refractory neuropathic pain due to small fiber neuropathy. ( 22495792 )
2013
50
Small fibers, large impact: Quality of life in small-fiber neuropathy. ( 23716362 )
2013

Variations for Erythermalgia, Primary

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

75 (show all 11)
# 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 rs879253994
11 SCN9A p.Ala1643Thr VAR_072281

ClinVar genetic disease variations for Erythermalgia, Primary:

6
(show top 50) (show all 294)
# 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.2573T> A (p.Leu858His) single nucleotide variant Pathogenic rs80356475 GRCh38 Chromosome 2, 166277251: 166277251
3 SCN9A NM_002977.3(SCN9A): c.2543T> C (p.Ile848Thr) single nucleotide variant Pathogenic rs80356474 GRCh37 Chromosome 2, 167133791: 167133791
4 SCN9A NM_002977.3(SCN9A): c.2543T> C (p.Ile848Thr) single nucleotide variant Pathogenic rs80356474 GRCh38 Chromosome 2, 166277281: 166277281
5 SCN9A NM_002977.3(SCN9A): c.4345T> G (p.Phe1449Val) single nucleotide variant Pathogenic rs80356478 GRCh37 Chromosome 2, 167083097: 167083097
6 SCN9A NM_002977.3(SCN9A): c.4345T> G (p.Phe1449Val) single nucleotide variant Pathogenic rs80356478 GRCh38 Chromosome 2, 166226587: 166226587
7 SCN9A NM_002977.3(SCN9A): c.2572C> T (p.Leu858Phe) single nucleotide variant Pathogenic rs80356476 GRCh37 Chromosome 2, 167133762: 167133762
8 SCN9A NM_002977.3(SCN9A): c.2572C> T (p.Leu858Phe) single nucleotide variant Pathogenic rs80356476 GRCh38 Chromosome 2, 166277252: 166277252
9 SCN9A NM_002977.3(SCN9A): c.647T> C (p.Phe216Ser) single nucleotide variant Pathogenic rs80356469 GRCh37 Chromosome 2, 167160789: 167160789
10 SCN9A NM_002977.3(SCN9A): c.647T> C (p.Phe216Ser) single nucleotide variant Pathogenic rs80356469 GRCh38 Chromosome 2, 166304279: 166304279
11 SCN9A NM_002977.3(SCN9A): c.1185C> A (p.Asn395Lys) single nucleotide variant Pathogenic rs80356471 GRCh37 Chromosome 2, 167145076: 167145076
12 SCN9A NM_002977.3(SCN9A): c.1185C> A (p.Asn395Lys) single nucleotide variant Pathogenic rs80356471 GRCh38 Chromosome 2, 166288566: 166288566
13 SCN9A NM_002977.3(SCN9A): c.2468T> G (p.Leu823Arg) single nucleotide variant Pathogenic rs80356473 GRCh37 Chromosome 2, 167134666: 167134666
14 SCN9A NM_002977.3(SCN9A): c.2468T> G (p.Leu823Arg) single nucleotide variant Pathogenic rs80356473 GRCh38 Chromosome 2, 166278156: 166278156
15 SCN9A NM_002977.3(SCN9A): c.2587G> C (p.Ala863Pro) single nucleotide variant Pathogenic rs80356477 GRCh37 Chromosome 2, 167133747: 167133747
16 SCN9A NM_002977.3(SCN9A): c.2587G> C (p.Ala863Pro) single nucleotide variant Pathogenic rs80356477 GRCh38 Chromosome 2, 166277237: 166277237
17 SCN9A NM_002977.3(SCN9A): c.406A> G (p.Ile136Val) single nucleotide variant Pathogenic rs80356468 GRCh37 Chromosome 2, 167163081: 167163081
18 SCN9A NM_002977.3(SCN9A): c.406A> G (p.Ile136Val) single nucleotide variant Pathogenic rs80356468 GRCh38 Chromosome 2, 166306571: 166306571
19 SCN9A NM_002977.3(SCN9A): c.1867G> A (p.Asp623Asn) single nucleotide variant Pathogenic rs200398202 GRCh37 Chromosome 2, 167141070: 167141070
20 SCN9A NM_002977.3(SCN9A): c.1867G> A (p.Asp623Asn) single nucleotide variant Pathogenic rs200398202 GRCh38 Chromosome 2, 166284560: 166284560
21 SCN9A NM_002977.3(SCN9A): c.554G> A (p.Arg185His) single nucleotide variant Conflicting interpretations of pathogenicity rs73969684 GRCh38 Chromosome 2, 166305834: 166305834
22 SCN9A NM_002977.3(SCN9A): c.554G> A (p.Arg185His) single nucleotide variant Conflicting interpretations of pathogenicity rs73969684 GRCh37 Chromosome 2, 167162344: 167162344
23 SCN9A NM_002977.3(SCN9A): c.2215A> G (p.Ile739Val) single nucleotide variant Conflicting interpretations of pathogenicity rs182650126 GRCh38 Chromosome 2, 166280452: 166280452
24 SCN9A NM_002977.3(SCN9A): c.2215A> G (p.Ile739Val) single nucleotide variant Conflicting interpretations of pathogenicity rs182650126 GRCh37 Chromosome 2, 167136962: 167136962
25 SCN9A NM_002977.3(SCN9A): c.4366-10_4366-7delGTTT deletion Benign rs77944059 GRCh37 Chromosome 2, 167060981: 167060984
26 SCN9A NM_002977.3(SCN9A): c.4366-10_4366-7delGTTT deletion Benign rs77944059 GRCh38 Chromosome 2, 166204471: 166204474
27 SCN9A NM_002977.3(SCN9A): c.2072-14C> T single nucleotide variant Benign rs6432893 GRCh37 Chromosome 2, 167137119: 167137119
28 SCN9A NM_002977.3(SCN9A): c.2072-14C> T single nucleotide variant Benign rs6432893 GRCh38 Chromosome 2, 166280609: 166280609
29 SCN9A NM_002977.3(SCN9A): c.2072-15G> A single nucleotide variant Benign rs4525717 GRCh37 Chromosome 2, 167137120: 167137120
30 SCN9A NM_002977.3(SCN9A): c.2072-15G> A single nucleotide variant Benign rs4525717 GRCh38 Chromosome 2, 166280610: 166280610
31 SCN9A NM_002977.3(SCN9A): c.1942-3dupT duplication Benign rs35888674 GRCh37 Chromosome 2, 167138321: 167138321
32 SCN9A NM_002977.3(SCN9A): c.1942-3dupT duplication Benign rs35888674 GRCh38 Chromosome 2, 166281811: 166281811
33 SCN9A NM_002977.3(SCN9A): c.1398C> T (p.Ser466=) single nucleotide variant Benign/Likely benign rs201531206 GRCh38 Chromosome 2, 166286540: 166286540
34 SCN9A NM_002977.3(SCN9A): c.1398C> T (p.Ser466=) single nucleotide variant Benign/Likely benign rs201531206 GRCh37 Chromosome 2, 167143050: 167143050
35 SCN9A NM_002977.3(SCN9A): c.1555G> A (p.Glu519Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs187453572 GRCh37 Chromosome 2, 167142893: 167142893
36 SCN9A NM_002977.3(SCN9A): c.1555G> A (p.Glu519Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs187453572 GRCh38 Chromosome 2, 166286383: 166286383
37 SCN9A NM_002977.3(SCN9A): c.1942-3delT deletion Benign/Likely benign rs755703742 GRCh37 Chromosome 2, 167138321: 167138321
38 SCN9A NM_002977.3(SCN9A): c.1942-3delT deletion Benign/Likely benign rs755703742 GRCh38 Chromosome 2, 166281811: 166281811
39 SCN9A NM_002977.3(SCN9A): c.2359A> G (p.Met787Val) single nucleotide variant Benign/Likely benign rs149707354 GRCh37 Chromosome 2, 167134775: 167134775
40 SCN9A NM_002977.3(SCN9A): c.2359A> G (p.Met787Val) single nucleotide variant Benign/Likely benign rs149707354 GRCh38 Chromosome 2, 166278265: 166278265
41 SCN9A NM_002977.3(SCN9A): c.3651T> C (p.Tyr1217=) single nucleotide variant Conflicting interpretations of pathogenicity rs144941725 GRCh37 Chromosome 2, 167094721: 167094721
42 SCN9A NM_002977.3(SCN9A): c.3651T> C (p.Tyr1217=) single nucleotide variant Conflicting interpretations of pathogenicity rs144941725 GRCh38 Chromosome 2, 166238211: 166238211
43 SCN9A NM_002977.3(SCN9A): c.3799C> G (p.Leu1267Val) single nucleotide variant Conflicting interpretations of pathogenicity rs180922748 GRCh37 Chromosome 2, 167089942: 167089942
44 SCN9A NM_002977.3(SCN9A): c.3799C> G (p.Leu1267Val) single nucleotide variant Conflicting interpretations of pathogenicity rs180922748 GRCh38 Chromosome 2, 166233432: 166233432
45 SCN9A NM_002977.3(SCN9A): c.4281C> T (p.Val1427=) single nucleotide variant Conflicting interpretations of pathogenicity rs188336294 GRCh37 Chromosome 2, 167083161: 167083161
46 SCN9A NM_002977.3(SCN9A): c.4281C> T (p.Val1427=) single nucleotide variant Conflicting interpretations of pathogenicity rs188336294 GRCh38 Chromosome 2, 166226651: 166226651
47 SCN9A NM_002977.3(SCN9A): c.5746C> T (p.Leu1916Phe) single nucleotide variant Benign/Likely benign rs111558968 GRCh37 Chromosome 2, 167055370: 167055370
48 SCN9A NM_002977.3(SCN9A): c.5746C> T (p.Leu1916Phe) single nucleotide variant Benign/Likely benign rs111558968 GRCh38 Chromosome 2, 166198860: 166198860
49 SCN9A NM_002977.3(SCN9A): c.684C> G (p.Ile228Met) single nucleotide variant Conflicting interpretations of pathogenicity rs71428908 GRCh37 Chromosome 2, 167160752: 167160752
50 SCN9A NM_002977.3(SCN9A): c.684C> G (p.Ile228Met) single nucleotide variant Conflicting interpretations of pathogenicity rs71428908 GRCh38 Chromosome 2, 166304242: 166304242

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:

# 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
12.45 SCN10A SCN11A SCN9A
4
Show member pathways
12.27 SCN10A SCN11A SCN9A
5
Show member pathways
12.09 SCN10A SCN11A SCN9A
6 11.97 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:

# 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:

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.61 SCN10A SCN11A SCN9A
2 transmembrane transport GO:0055085 9.58 SCN10A SCN11A SCN9A
3 regulation of ion transmembrane transport GO:0034765 9.5 SCN10A SCN11A SCN9A
4 ion transmembrane transport GO:0034220 9.46 SCN11A SCN9A
5 sodium ion transport GO:0006814 9.43 SCN10A SCN11A SCN9A
6 sensory perception of pain GO:0019233 9.37 SCN10A SCN9A
7 sodium ion transmembrane transport GO:0035725 9.33 SCN10A SCN11A SCN9A
8 membrane depolarization during action potential GO:0086010 9.13 SCN10A SCN11A SCN9A
9 neuronal action potential GO:0019228 8.8 SCN10A SCN11A SCN9A

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

# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.5 SCN10A SCN11A SCN9A
2 voltage-gated ion channel activity GO:0005244 9.43 SCN10A SCN11A SCN9A
3 cation channel activity GO:0005261 9.33 SCN10A SCN11A SCN9A
4 sodium channel activity GO:0005272 9.13 SCN10A SCN11A SCN9A
5 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
17 ExPASy
19 FMA
28 GO
29 GTR
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44 MeSH
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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