PERYTHM
MCID: ERY029
MIFTS: 58

Erythermalgia, Primary (PERYTHM)

Categories: Blood diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Erythermalgia, Primary

MalaCards integrated aliases for Erythermalgia, Primary:

Name: Erythermalgia, Primary 58 13
Small Fiber Neuropathy 58 26 30 6 74
Primary Erythromelalgia 60 30 6
Primary Erythermalgia 60 76 74
Erythromelalgia, Primary 58 41
Small Nerve Fiber Neuropathy 26
Erythromelalgia, Familial 58
Perythm 76
Sfnp 26
Sfn 26

Characteristics:

Orphanet epidemiological data:

60
primary erythromelalgia
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
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:

33
erythermalgia, primary:
Onset and clinical course juvenile onset
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Erythermalgia, Primary

OMIM : 58 '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, pruritus and myalgia. 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 Sodium Channel Blockers have been mentioned in the context of this disorder. Affiliated tissues include skin, testes and eye, and related phenotypes are peripheral neuropathy and erythema

Genetics Home Reference : 26 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 : 76 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

Diseases related to Erythermalgia, Primary via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 72)
# Related Disease Score Top Affiliating Genes
1 sodium channelopathy-related small fiber neuropathy 32.7 SCN9A SCN11A SCN10A
2 erythromelalgia 31.7 SCN9A SCN10A
3 paroxysmal extreme pain disorder 31.5 SCN9A SCN11A SCN10A
4 neuropathy 31.1 SCN9A SCN11A
5 paine syndrome 28.8 SCN9A SCN11A SCN10A
6 breast cancer 11.7
7 popliteal pterygium syndrome 11.0
8 microphthalmia, isolated 1 11.0
9 cocoon syndrome 11.0
10 limbal stem cell deficiency 11.0
11 pancreas adenocarcinoma 11.0
12 benign breast adenomyoepithelioma 11.0
13 colloid carcinoma of the pancreas 11.0
14 fibromyalgia 10.3
15 sjogren syndrome 10.2
16 pancreatic ductal adenocarcinoma 10.2
17 fabry disease 10.1
18 thrombosis 10.1
19 cerebral sinovenous thrombosis 10.1
20 diabetes mellitus 10.1
21 radin blood group antigen 10.0
22 lung cancer susceptibility 3 10.0
23 barrett esophagus 10.0
24 adenocarcinoma 10.0
25 myelofibrosis 10.0
26 encephalopathy 10.0
27 secondary erythromelalgia 10.0
28 sarcoidosis 1 10.0
29 wilson disease 10.0
30 reflex sympathetic dystrophy 10.0
31 charcot-marie-tooth disease 10.0
32 tooth disease 10.0
33 lyme disease 10.0
34 algoneurodystrophy 10.0
35 complex regional pain syndrome 10.0
36 peripheral nervous system disease 10.0
37 vasculitis 10.0
38 dysautonomia 10.0
39 charcot-marie-tooth disease, demyelinating, type 1a 9.8
40 ehlers-danlos syndrome, hypermobility type 9.8
41 porphyria, acute intermittent 9.8
42 rheumatoid arthritis 9.8
43 celiac disease 1 9.8
44 myeloma, multiple 9.8
45 aging 9.8
46 leukemia, acute lymphoblastic 9.8
47 acute lymphocytic leukemia 9.8
48 arthritis 9.8
49 burns 9.8
50 diabetic neuropathy 9.8

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



Diseases related to Erythermalgia, Primary

Symptoms & Phenotypes for Erythermalgia, Primary

Human phenotypes related to Erythermalgia, Primary:

60 33 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 peripheral neuropathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0009830
2 erythema 60 33 hallmark (90%) Very frequent (99-80%) HP:0010783
3 pruritus 60 33 frequent (33%) Frequent (79-30%) HP:0000989
4 hypothermia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002045
5 recurrent respiratory infections 60 33 occasional (7.5%) Occasional (29-5%) HP:0002205
6 vasculitis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002633
7 leukemia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001909
8 abnormal autonomic nervous system physiology 33 occasional (7.5%) HP:0012332
9 abnormal thrombocyte morphology 33 occasional (7.5%) HP:0001872
10 hyperhidrosis 33 HP:0000975
11 constipation 33 HP:0002019
12 myalgia 33 HP:0003326
13 keratoconjunctivitis sicca 33 HP:0001097
14 xerostomia 33 HP:0000217
15 abnormality of the musculature 33 HP:0003011
16 abnormality of thrombocytes 60 Occasional (29-5%)
17 abnormality of the nervous system 33 HP:0000707
18 diarrhea 33 HP:0002014
19 blurred vision 33 HP:0000622
20 palpitations 33 HP:0001962
21 jaw pain 33 HP:0040264
22 erythromelalgia 33 HP:0032147

Symptoms via clinical synopsis from OMIM:

58
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

UMLS symptoms related to Erythermalgia, Primary:


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

MGI Mouse Phenotypes related to Erythermalgia, Primary:

47
# 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 92)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lacosamide Approved Phase 3 175481-36-4, 860352-01-8 219078
2 Sodium Channel Blockers Phase 3,Not Applicable
3 Diuretics, Potassium Sparing Phase 3,Not Applicable
4 Anticonvulsants Phase 3,Phase 2,Phase 1,Not Applicable
5
Pregabalin Approved, Illicit, Investigational Phase 2,Phase 1,Not Applicable 148553-50-8 5486971
6
Glutamic Acid Approved, Nutraceutical Phase 2 56-86-0 33032
7
Calcium Approved, Nutraceutical Phase 2,Phase 1,Not Applicable 7440-70-2 271
8 Excitatory Amino Acids Phase 2
9 Neurotransmitter Agents Phase 2,Not Applicable
10 Excitatory Amino Acid Antagonists Phase 2
11 Immunoglobulins Phase 2,Not Applicable
12 Antibodies Phase 2,Not Applicable
13 Peripheral Nervous System Agents Phase 2,Phase 1,Not Applicable
14 Central Nervous System Depressants Phase 2,Phase 1,Not Applicable
15 Rho(D) Immune Globulin Phase 2
16 Immunoglobulins, Intravenous Phase 2
17 gamma-Globulins Phase 2
18 Immunologic Factors Phase 2
19 Pharmaceutical Solutions Phase 2
20 Autoantibodies Phase 2
21 calcium channel blockers Phase 2,Phase 1,Not Applicable
22 Hormones Phase 2,Phase 1,Not Applicable
23 Psychotropic Drugs Phase 2,Phase 1,Not Applicable
24 Tranquilizing Agents Phase 2,Phase 1,Not Applicable
25 Anti-Anxiety Agents Phase 2,Phase 1,Not Applicable
26 Analgesics Phase 2,Phase 1,Not Applicable
27 Calcium, Dietary Phase 2,Phase 1,Not Applicable
28 Anti-Inflammatory Agents Phase 2
29
Capsaicin Approved Phase 1,Not Applicable 404-86-4 1548943
30
Hydrocortisone acetate Approved, Vet_approved Phase 1 50-03-3
31
Hydrocortisone Approved, Vet_approved Phase 1 50-23-7 5754
32 Dermatologic Agents Phase 1,Not Applicable
33 Antipruritics Phase 1,Not Applicable
34 Hydrocortisone 17-butyrate 21-propionate Phase 1
35 Hydrocortisone hemisuccinate Phase 1
36
Hydrogen peroxide Approved, Vet_approved Not Applicable 7722-84-1 784
37
Lidocaine Approved, Vet_approved Not Applicable 137-58-6 3676
38
Prilocaine Approved Not Applicable 721-50-6 4906
39
Methylcobalamin Approved, Experimental, Investigational Not Applicable 13422-55-4
40
Hydroxocobalamin Approved Not Applicable 13422-51-0 11953898 15589840
41
Acetylcholine Approved, Investigational Not Applicable 51-84-3 187
42
Ethanol Approved Not Applicable 64-17-5 702
43
Bortezomib Approved, Investigational 179324-69-7 387447 93860
44
Levomilnacipran Approved, Investigational Not Applicable 96847-54-0
45
Norepinephrine Approved Not Applicable 51-41-2 439260
46
Milnacipran Approved, Investigational Not Applicable 92623-85-3 65833
47
Metformin Approved Not Applicable 657-24-9 14219 4091
48
Linagliptin Approved Not Applicable 668270-12-0 10096344
49
Insulin glargine Approved Not Applicable 160337-95-1
50
Liraglutide Approved Not Applicable 204656-20-2 44147092

Interventional clinical trials:

(show top 50) (show all 52)
# 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 Efficacy and Safety of Inotersen in Familial Amyloid Polyneuropathy Completed NCT01737398 Phase 2, Phase 3 Inotersen;Placebo
3 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
4 Safety and Efficacy Study of Fx-1006A in Patients With Familial Amyloidosis Completed NCT00409175 Phase 2, Phase 3 Fx-1006A;Placebo
5 Fycompa in Subjects With Small Fiber Neuropathy (SFN) Unknown status NCT02511873 Phase 2 Fycompa;Placebo
6 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
7 Study of XPF-001 in the Treatment of Pain From Primary/Inherited Erythromelalgia (IEM) Completed NCT01090622 Phase 1, Phase 2 XPF-001;Placebo
8 Intravenous Immunoglobulin Therapy for Small Fiber Neuropathy Active, not recruiting NCT02637700 Phase 2 Intravenous Immunoglobulin;Placebo
9 IVIg for Small Fiber Neuropathy With Autoantibodies TS-HDS and FGFR3 Recruiting NCT03401073 Phase 2 Intravenous immunoglobulin;0.9% Sodium Chloride
10 A Study to Evaluate the Efficacy and Safety of VX-150 in Treating Subjects With Pain Caused by Small Fiber Neuropathy Completed NCT03304522 Phase 2 VX-150;Placebo
11 Efficacy and Safety of Pregabalin in Treatment of Neuropathic Pain in Patients With Idiopathic Small Fiber Neuropathy Completed 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 Study of Efficacy of ARA 290 on Corneal Nerve Fiber Density and Neuropathic Symptoms of Subjects With Sarcoidosis Completed NCT02039687 Phase 2 ARA 290
14 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
15 Titration Study of ABX-1431 Recruiting NCT03447756 Phase 1 ABX-1431;Placebo oral capsule
16 Xanamem™ in Healthy Elderly Subjects Recruiting NCT03830762 Phase 1 Xanamem;Matching Placebo
17 Neuropathic Pain Syndrome Patient Study (MK-0000-072) Completed NCT00570310 Phase 1 Comparator: pregabalin;Comparator: Placebo (unspecified)
18 The Effect of Ablation of Epidermal Nerve Fibers Using Capsaicin Cream Completed NCT01883102 Phase 1 Capsaicin 0.1%;Placebo
19 Small-fiber Neuropathy in Chronic Kidney Disease Unknown status NCT01078857 Not Applicable
20 Autofluorescent Flavoprotein Imaging of Intraepidermal Nerve Fibers: a Pilot Study Unknown status NCT02537951 Not Applicable
21 Metanx Effects on Nerve Fiber Density in Neuropathic Diabetics Unknown status NCT01503892 Not Applicable Placebo
22 Normative Data of Intra-epidermal Nerve Fiber Density Unknown status NCT01498211 Not Applicable
23 The Early Intervention and Prevention of Diabetes Foot Unknown status NCT03133819 Not Applicable
24 Changes in Skin Innervation of Neurologically Asymptomatic Type 2 Diabetic Patients: the Correlation With the Diabetic Parameters and Neurotrophins. Unknown status NCT00155142
25 Probing the Role of Sodium Channels in Painful Neuropathies Unknown status NCT02243475
26 Chronic Cough and Small Fiber Neuropathy Recruiting NCT03787511 Not Applicable
27 Spinal Cord Stimulation in Small Fibre Neuropathy Terminated NCT02905396 Not Applicable
28 Medico-economic and Quality of Life Impact of Sjogren-associated Small Fiber Neuropathy Recruiting NCT03509064
29 fMRI-study in Patients With Small Fiber Neuropathy Recruiting NCT03889080
30 Prevalence and Characteristics of Fabry Disease (FD) in Patients With Stroke or Small Fiber Neuropathy Recruiting NCT03230149
31 Evaluation of Pregabalin in Idiopathic Small Fiber Neuropathy Terminated NCT00787462 Not Applicable Pregabalin;Placebo
32 A Pilot Study of Small Fiber Neuropathy Prevalence in Fibromyalgia Patients Compared to Healthy Subjects Using Sudoscan® Recruiting NCT03347669 Not Applicable
33 Assessment of Small Fiber Neuropathy in Rare Diseases Using Sudoscan Recruiting NCT02985710 Not Applicable
34 Dorsal Root Ganglion Stimulation for the Management of Painful Intractable Small Fibre Neuropathy: Recruiting NCT02435004 Not Applicable
35 Nutritional Supplementation With Agmatine Sulfate During Small Fiber Neuropathy Recruiting NCT01524666
36 Primary Sjögren Syndrome Completed NCT01989819
37 Diabetes Peripheral Neuropathy and Small-fibre Nerve Damage: A Comparative Study Completed NCT01160887
38 Skin Biopsies in Chemotherapy-Induced Neuropathy Completed NCT00956033
39 Neuropathic Pain and Fabry Disease Completed NCT00168974
40 Metabolism, Muscle Function and Psychological Factors in Fibromyalgia Recruiting NCT03300635 Not Applicable
41 Quantitative Sensory Testing in Subjects With Sensitive Skin or Not Completed NCT03081403 Not Applicable
42 Vascular and Neurologic Exploration of Small Nervous Fiber by Sudoscanner and QST Completed NCT03044340 Not Applicable
43 A Placebo Controlled, Randomized, Double Blind Trial of Milnacipran for the Treatment of Idiopathic Neuropathy Pain Terminated NCT01288937 Not Applicable Milnacipran;Placebo
44 Physical Training in Sarcoidosis Patients Completed NCT02243995 Not Applicable
45 Prevention of Microvascular Complications in Prediabetes e-PREDICE Study Recruiting NCT03222765 Not Applicable Placebo, metformin, linagliptin, linagliptin + metformin
46 HbA1c Variability in Type II Diabetes Recruiting NCT02879409 Not Applicable Metformin;Gliclazide;Sitagliptin;Liraglutide;Pioglitazone;Dapagliflozin;human insulin
47 Assessment of the Prevalence of Small Fiber Peripheral Neuropathy Among Non-diabetic Obese Patients Completed NCT02767583 Not Applicable
48 Comparison of the Analgesic Effect Between the Motor Cortex Stimulation and the Trans-spinal Stimulation in the Algoneurodystrophy. Recruiting NCT02817880 Not Applicable
49 Sudoscan in Patients With Autoimmune Disorders Completed NCT02434458
50 Magnesium, Stress and Fibromyalgia Not yet recruiting NCT03887000 Not Applicable

Search NIH Clinical Center for Erythermalgia, Primary

Genetic Tests for Erythermalgia, Primary

Genetic tests related to Erythermalgia, Primary:

# Genetic test Affiliating Genes
1 Primary Erythromelalgia 30 SCN9A
2 Small Fiber Neuropathy 30

Anatomical Context for Erythermalgia, Primary

MalaCards organs/tissues related to Erythermalgia, Primary:

42
Skin, Testes, Eye, Dorsal Root Ganglion, Spinal Cord, Kidney, Cortex

Publications for Erythermalgia, Primary

Articles related to Erythermalgia, Primary:

(show top 50) (show all 213)
# Title Authors Year
1
Association of small fiber neuropathy and post treatment Lyme disease syndrome. ( 30753241 )
2019
2
The Clinical Features of Painful Small-Fiber Neuropathy Suggesting an Origin Linked to Primary Sjögren's Syndrome. ( 30636091 )
2019
3
A zebrafish model to study small-fiber neuropathy reveals a potential role for GDAP1. ( 30677530 )
2019
4
Generation of two induced pluripotent stem cell lines from skin fibroblasts of sisters carrying a c.1094C>A variation in the SCN10A gene potentially associated with small fiber neuropathy. ( 30731422 )
2019
5
The role of skin biopsy in differentiating small-fiber neuropathy from ganglionopathy. ( 30520237 )
2019
6
Expression of pathogenic SCN9A mutations in the zebrafish: A model to study small-fiber neuropathy. ( 30316835 )
2019
7
Incidence of nonamyloidogenic mutations in the transthyretin gene in patients with autonomic and small fiber neuropathy. ( 28556268 )
2018
8
Small-Fiber Neuropathy in a Pediatric Patient Following Anti-Tumor Necrosis Factor-α Therapy for Ulcerative Colitis. ( 29620599 )
2018
9
Fibromyalgia and small fiber neuropathy: the plot thickens! ( 30238382 )
2018
10
Gender Differences in Skin Biopsy Findings in Small Fiber Neuropathy: A Retrospective Chart Review. ( 30439752 )
2018
11
The pain dynamics of small fiber neuropathy. ( 30529697 )
2018
12
Small fibre neuropathy: expanding the clinical pain universe. ( 30569495 )
2018
13
Biopsy-Proven Small-Fiber Neuropathy in Primary Sjögren's Syndrome:Neuropathic Pain Characteristics, Autoantibody Findings, and Histopathological Features. ( 30221483 )
2018
14
Characterization of Neuropathic Pain in Primary Sjögren's Syndrome with Respect to Neurophysiological Evidence of Small-Fiber Neuropathy. ( 30247738 )
2018
15
Office approach to small fiber neuropathy. ( 30289758 )
2018
16
Low Sensitivity of Skin Biopsy in Diagnosing Small Fiber Neuropathy in Chinese Americans. ( 30124554 )
2018
17
Reply to "Work-up for mitochondrial small fiber neuropathy requires application of skin biopsies". ( 30025801 )
2018
18
Work-up for mitochondrial small fiber neuropathy requires application of skin biopsies. ( 30025802 )
2018
19
The incidental finding of elevated anti GQ1B antibodies in a patient with selective small fiber neuropathy. ( 29627021 )
2018
20
Small Fiber Neuropathy: Disease Classification Beyond Pain and Burning. ( 29706768 )
2018
21
Definition and diagnosis of small fiber neuropathy: consensus from the Peripheral Neuropathy Scientific Department of the Brazilian Academy of Neurology. ( 29809227 )
2018
22
The role of skin biopsy in differentiating small-fiber neuropathy from ganglionopathy. ( 29493845 )
2018
23
Long-Time Course of Idiopathic Small Fiber Neuropathy. ( 29518780 )
2018
24
N-hexane exposure: a cause of small fiber neuropathy. ( 29542204 )
2018
25
Corneal nerve fiber size adds utility to the diagnosis and assessment of therapeutic response in patients with small fiber neuropathy. ( 29549285 )
2018
26
Establishing a Mouse Model of a Pure Small Fiber Neuropathy with the Ultrapotent Agonist of Transient Receptor Potential Vanilloid Type 1. ( 29553496 )
2018
27
Corneal confocal microscopy detects severe small fiber neuropathy in diabetic patients with Charcot neuroarthropathy. ( 29380548 )
2018
28
Small-fiber neuropathy and pain sensitization in survivors of pediatric acute lymphoblastic leukemia. ( 29396168 )
2018
29
Distinct TrkA and Ret modulated negative and positive neuropathic behaviors in a mouse model of resiniferatoxin-induced small fiber neuropathy. ( 29106982 )
2018
30
Associated conditions in small fiber neuropathy - a large cohort study and review of the literature. ( 29112785 )
2018
31
Small fiber neuropathy: Diagnosis, causes, and treatment. ( 29154979 )
2018
32
High glucose up-regulates Semaphorin 3A expression via the mTOR signaling pathway in keratinocytes: A potential mechanism and therapeutic target for diabetic small fiber neuropathy. ( 29203371 )
2018
33
Small fiber neuropathy: a disabling and underrecognized syndrome. ( 28639956 )
2017
34
Small fiber neuropathy presenting during the antecedent period of undifferentiated arthritis prior to rheumatoid arthritis. ( 29431174 )
2017
35
Pyridoxine Toxicity Small Fiber Neuropathy With Dysautonomia: A Case Report. ( 28827489 )
2017
36
The histopathological evaluation of small fiber neuropathy in patients with vitamin B12 deficiency. ( 29052170 )
2017
37
Clinical and Laboratory Profiles of Idiopathic Small Fiber Neuropathy in Children: Case Series. ( 28827487 )
2017
38
Evidence of small-fiber neuropathy (SFN) in two patients with unexplained genital sensory loss and sensory urinary cystopathy. ( 28870595 )
2017
39
Candesartan prevents resiniferatoxin-induced sensory small-fiber neuropathy in mice by promoting angiotensin II-mediated AT2 receptor stimulation. ( 28882562 )
2017
40
A prospective, observational study of patients with uncommon distal symmetric painful small-fiber neuropathy. ( 28957343 )
2017
41
A Unique Case for Spinal Cord Stimulation: Successful Treatment of Small Fiber Neuropathy Pain Using Multiple Spinal Cord Stimulators. ( 28791051 )
2017
42
Small fiber neuropathy or small fiber pathology? ( 28414705 )
2017
43
Impact of pain on cognitive functions in primary Sjögren syndrome with small fiber neuropathy: 10 cases and a literature review. ( 28422829 )
2017
44
Diagnostic Criteria for Small Fiber Neuropathy. ( 28221302 )
2017
45
Sarcoidosis-associated small fiber neuropathy in a large cohort: Clinical aspects and response to IVIG and anti-TNF alpha treatment. ( 28318820 )
2017
46
Sudomotor dysfunction as a measure of small fiber neuropathy in type 1 diabetes. ( 28325598 )
2017
47
Efficacious Dorsal Root Ganglion Stimulation for Painful Small Fiber Neuropathy: A Case Report. ( 28339448 )
2017
48
Effects of small-fiber neuropathy induced by resiniferatoxin on skin healing and axonal regrowth after burn. ( 27743736 )
2017
49
Small fiber neuropathy is a common feature of Ehlers-Danlos syndromes. ( 27306637 )
2016
50
Small Fiber Neuropathy in Children: Two Case Reports Illustrating the Importance of Recognition. ( 27660061 )
2016

Variations for Erythermalgia, Primary

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

76 (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 348)
# Gene Variation Type Significance SNP ID Assembly Location
1 SCN9A NM_002977.3(SCN9A): c.554G> A (p.Arg185His) single nucleotide variant Conflicting interpretations of pathogenicity rs73969684 GRCh37 Chromosome 2, 167162344: 167162344
2 SCN9A NM_002977.3(SCN9A): c.2215A> G (p.Ile739Val) single nucleotide variant Conflicting interpretations of pathogenicity rs182650126 GRCh38 Chromosome 2, 166280452: 166280452
3 SCN9A NM_002977.3(SCN9A): c.2215A> G (p.Ile739Val) single nucleotide variant Conflicting interpretations of pathogenicity rs182650126 GRCh37 Chromosome 2, 167136962: 167136962
4 SCN9A NM_002977.3(SCN9A): c.4366-10_4366-7delGTTT deletion Benign rs77944059 GRCh37 Chromosome 2, 167060981: 167060984
5 SCN9A NM_002977.3(SCN9A): c.4366-10_4366-7delGTTT deletion Benign rs77944059 GRCh38 Chromosome 2, 166204471: 166204474
6 SCN9A NM_002977.3(SCN9A): c.2072-14C> T single nucleotide variant Benign rs6432893 GRCh38 Chromosome 2, 166280609: 166280609
7 SCN9A NM_002977.3(SCN9A): c.2072-14C> T single nucleotide variant Benign rs6432893 GRCh37 Chromosome 2, 167137119: 167137119
8 SCN9A NM_002977.3(SCN9A): c.2072-15G> A single nucleotide variant Benign rs4525717 GRCh38 Chromosome 2, 166280610: 166280610
9 SCN9A NM_002977.3(SCN9A): c.2072-15G> A single nucleotide variant Benign rs4525717 GRCh37 Chromosome 2, 167137120: 167137120
10 SCN9A NM_002977.3(SCN9A): c.1942-3dupT duplication Benign rs35888674 GRCh37 Chromosome 2, 167138321: 167138321
11 SCN9A NM_002977.3(SCN9A): c.1942-3dupT duplication Benign rs35888674 GRCh38 Chromosome 2, 166281811: 166281811
12 SCN9A NM_002977.3(SCN9A): c.1398C> T (p.Ser466=) single nucleotide variant Benign/Likely benign rs201531206 GRCh37 Chromosome 2, 167143050: 167143050
13 SCN9A NM_002977.3(SCN9A): c.1398C> T (p.Ser466=) single nucleotide variant Benign/Likely benign rs201531206 GRCh38 Chromosome 2, 166286540: 166286540
14 SCN9A NM_002977.3(SCN9A): c.1555G> A (p.Glu519Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs187453572 GRCh37 Chromosome 2, 167142893: 167142893
15 SCN9A NM_002977.3(SCN9A): c.1555G> A (p.Glu519Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs187453572 GRCh38 Chromosome 2, 166286383: 166286383
16 SCN9A NM_002977.3(SCN9A): c.2359A> G (p.Met787Val) single nucleotide variant Benign/Likely benign rs149707354 GRCh37 Chromosome 2, 167134775: 167134775
17 SCN9A NM_002977.3(SCN9A): c.2359A> G (p.Met787Val) single nucleotide variant Benign/Likely benign rs149707354 GRCh38 Chromosome 2, 166278265: 166278265
18 SCN9A NM_002977.3(SCN9A): c.3651T> C (p.Tyr1217=) single nucleotide variant Conflicting interpretations of pathogenicity rs144941725 GRCh37 Chromosome 2, 167094721: 167094721
19 SCN9A NM_002977.3(SCN9A): c.3799C> G (p.Leu1267Val) single nucleotide variant Conflicting interpretations of pathogenicity rs180922748 GRCh37 Chromosome 2, 167089942: 167089942
20 SCN9A NM_002977.3(SCN9A): c.3799C> G (p.Leu1267Val) single nucleotide variant Conflicting interpretations of pathogenicity rs180922748 GRCh38 Chromosome 2, 166233432: 166233432
21 SCN9A NM_002977.3(SCN9A): c.4281C> T (p.Val1427=) single nucleotide variant Conflicting interpretations of pathogenicity rs188336294 GRCh37 Chromosome 2, 167083161: 167083161
22 SCN9A NM_002977.3(SCN9A): c.4281C> T (p.Val1427=) single nucleotide variant Conflicting interpretations of pathogenicity rs188336294 GRCh38 Chromosome 2, 166226651: 166226651
23 SCN9A NM_002977.3(SCN9A): c.5746C> T (p.Leu1916Phe) single nucleotide variant Benign/Likely benign rs111558968 GRCh37 Chromosome 2, 167055370: 167055370
24 SCN9A NM_002977.3(SCN9A): c.5746C> T (p.Leu1916Phe) single nucleotide variant Benign/Likely benign rs111558968 GRCh38 Chromosome 2, 166198860: 166198860
25 SCN9A NM_002977.3(SCN9A): c.684C> G (p.Ile228Met) single nucleotide variant Conflicting interpretations of pathogenicity rs71428908 GRCh37 Chromosome 2, 167160752: 167160752
26 SCN9A NM_002977.3(SCN9A): c.684C> G (p.Ile228Met) single nucleotide variant Conflicting interpretations of pathogenicity rs71428908 GRCh38 Chromosome 2, 166304242: 166304242
27 SCN9A NM_002977.3(SCN9A): c.2573T> A (p.Leu858His) single nucleotide variant Pathogenic rs80356475 GRCh37 Chromosome 2, 167133761: 167133761
28 SCN9A NM_002977.3(SCN9A): c.2573T> A (p.Leu858His) single nucleotide variant Pathogenic rs80356475 GRCh38 Chromosome 2, 166277251: 166277251
29 SCN9A NM_002977.3(SCN9A): c.2543T> C (p.Ile848Thr) single nucleotide variant Pathogenic rs80356474 GRCh37 Chromosome 2, 167133791: 167133791
30 SCN9A NM_002977.3(SCN9A): c.2543T> C (p.Ile848Thr) single nucleotide variant Pathogenic rs80356474 GRCh38 Chromosome 2, 166277281: 166277281
31 SCN9A NM_002977.3(SCN9A): c.721T> A (p.Ser241Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs80356470 GRCh37 Chromosome 2, 167159780: 167159780
32 SCN9A NM_002977.3(SCN9A): c.721T> A (p.Ser241Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs80356470 GRCh38 Chromosome 2, 166303270: 166303270
33 SCN9A NM_002977.3(SCN9A): c.4345T> G (p.Phe1449Val) single nucleotide variant Pathogenic rs80356478 GRCh37 Chromosome 2, 167083097: 167083097
34 SCN9A NM_002977.3(SCN9A): c.4345T> G (p.Phe1449Val) single nucleotide variant Pathogenic rs80356478 GRCh38 Chromosome 2, 166226587: 166226587
35 SCN9A NM_002977.3(SCN9A): c.2572C> T (p.Leu858Phe) single nucleotide variant Pathogenic rs80356476 GRCh37 Chromosome 2, 167133762: 167133762
36 SCN9A NM_002977.3(SCN9A): c.2572C> T (p.Leu858Phe) single nucleotide variant Pathogenic rs80356476 GRCh38 Chromosome 2, 166277252: 166277252
37 SCN9A NM_002977.3(SCN9A): c.647T> C (p.Phe216Ser) single nucleotide variant Pathogenic rs80356469 GRCh37 Chromosome 2, 167160789: 167160789
38 SCN9A NM_002977.3(SCN9A): c.647T> C (p.Phe216Ser) single nucleotide variant Pathogenic rs80356469 GRCh38 Chromosome 2, 166304279: 166304279
39 SCN9A NM_002977.3(SCN9A): c.29A> G (p.Gln10Arg) single nucleotide variant Likely benign rs267607030 GRCh37 Chromosome 2, 167168238: 167168238
40 SCN9A NM_002977.3(SCN9A): c.29A> G (p.Gln10Arg) single nucleotide variant Likely benign rs267607030 GRCh38 Chromosome 2, 166311728: 166311728
41 SCN9A NM_002977.3(SCN9A): c.406A> G (p.Ile136Val) single nucleotide variant Pathogenic rs80356468 GRCh38 Chromosome 2, 166306571: 166306571
42 SCN9A NM_002977.3(SCN9A): c.1185C> A (p.Asn395Lys) single nucleotide variant Pathogenic rs80356471 GRCh37 Chromosome 2, 167145076: 167145076
43 SCN9A NM_002977.3(SCN9A): c.1185C> A (p.Asn395Lys) single nucleotide variant Pathogenic rs80356471 GRCh38 Chromosome 2, 166288566: 166288566
44 SCN9A NM_002977.3(SCN9A): c.1828C> A (p.Pro610Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs41268673 GRCh37 Chromosome 2, 167141109: 167141109
45 SCN9A NM_002977.3(SCN9A): c.1828C> A (p.Pro610Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs41268673 GRCh38 Chromosome 2, 166284599: 166284599
46 SCN9A NM_002977.3(SCN9A): c.2468T> G (p.Leu823Arg) single nucleotide variant Pathogenic rs80356473 GRCh37 Chromosome 2, 167134666: 167134666
47 SCN9A NM_002977.3(SCN9A): c.2468T> G (p.Leu823Arg) single nucleotide variant Pathogenic rs80356473 GRCh38 Chromosome 2, 166278156: 166278156
48 SCN9A NM_002977.3(SCN9A): c.2587G> C (p.Ala863Pro) single nucleotide variant Pathogenic rs80356477 GRCh37 Chromosome 2, 167133747: 167133747
49 SCN9A NM_002977.3(SCN9A): c.2587G> C (p.Ala863Pro) single nucleotide variant Pathogenic rs80356477 GRCh38 Chromosome 2, 166277237: 166277237
50 SCN9A NM_002977.3(SCN9A): c.3448C> T (p.Arg1150Trp) single nucleotide variant Benign rs6746030 GRCh37 Chromosome 2, 167099158: 167099158

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
12.5 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 axon GO:0030424 9.13 SCN10A SCN11A SCN9A
2 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 9.54 SCN10A SCN11A SCN9A
3 regulation of ion transmembrane transport GO:0034765 9.5 SCN10A SCN11A SCN9A
4 ion transmembrane transport GO:0034220 9.46 SCN10A SCN9A
5 sodium ion transport GO:0006814 9.43 SCN10A SCN11A SCN9A
6 sensory perception of pain GO:0019233 9.4 SCN10A SCN9A
7 sodium ion transmembrane transport GO:0035725 9.33 SCN10A SCN11A SCN9A
8 neuronal action potential GO:0019228 9.13 SCN10A SCN11A SCN9A
9 membrane depolarization during action potential GO:0086010 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 9.43 SCN10A SCN11A SCN9A
2 voltage-gated ion channel activity GO:0005244 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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
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35 ICD10 via Orphanet
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45 MeSH
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
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75 UMLS via Orphanet
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