PERYTHM
MCID: ERY029
MIFTS: 56

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 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, 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. Affiliated tissues include skin, testes and eye, and related phenotypes are hyperhidrosis and constipation

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

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

(show top 50) (show all 66)
# Related Disease Score Top Affiliating Genes
1 sodium channelopathy-related small fiber neuropathy 33.0 SCN9A SCN11A SCN10A
2 erythromelalgia 31.6 SCN9A SCN10A
3 neuropathy 31.2 SCN9A SCN11A
4 breast cancer 11.7
5 microphthalmia, isolated 1 11.0
6 cocoon syndrome 11.0
7 limbal stem cell deficiency 11.0
8 pancreas adenocarcinoma 11.0
9 benign breast adenomyoepithelioma 11.0
10 colloid carcinoma of the pancreas 11.0
11 fibromyalgia 10.3
12 pancreatic ductal adenocarcinoma 10.1
13 sjogren syndrome 10.1
14 fabry disease 10.1
15 thrombosis 10.1
16 cerebral sinovenous thrombosis 10.1
17 diabetes mellitus 10.1
18 encephalopathy 10.0
19 wilson disease 10.0
20 reflex sympathetic dystrophy 10.0
21 charcot-marie-tooth disease 10.0
22 tooth disease 10.0
23 algoneurodystrophy 10.0
24 complex regional pain syndrome 10.0
25 peripheral nervous system disease 10.0
26 vasculitis 10.0
27 dysautonomia 10.0
28 trigeminal neuralgia 9.9 SCN9A SCN10A
29 diabetes mellitus, noninsulin-dependent 9.8
30 ehlers-danlos syndrome, hypermobility type 9.8
31 porphyria, acute intermittent 9.8
32 rheumatoid arthritis 9.8
33 sarcoidosis 1 9.8
34 celiac disease 1 9.8
35 myeloma, multiple 9.8
36 aging 9.8
37 leukemia, acute lymphoblastic 9.8
38 acute lymphocytic leukemia 9.8
39 arthritis 9.8
40 diabetic neuropathy 9.8
41 leukemia 9.8
42 ulcerative colitis 9.8
43 restless legs syndrome 9.8
44 vitamin b12 deficiency 9.8
45 fragile x-associated tremor/ataxia syndrome 9.8
46 colitis 9.8
47 lymphocytic leukemia 9.8
48 rabies 9.8
49 lyme disease 9.8
50 gastroparesis 9.8

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 13)
# Description HPO Frequency HPO Source Accession
1 hyperhidrosis 32 HP:0000975
2 constipation 32 HP:0002019
3 pruritus 32 HP:0000989
4 myalgia 32 HP:0003326
5 keratoconjunctivitis sicca 32 HP:0001097
6 xerostomia 32 HP:0000217
7 abnormality of the musculature 32 HP:0003011
8 abnormality of the nervous system 32 HP:0000707
9 diarrhea 32 HP:0002014
10 blurred vision 32 HP:0000622
11 palpitations 32 HP:0001962
12 jaw pain 32 HP:0040264
13 abnormal autonomic nervous system physiology 32 occasional (7.5%) HP:0012332

UMLS symptoms related to Erythermalgia, Primary:


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

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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
2 Study of XPF-001 in the Treatment of Pain From Primary/Inherited Erythromelalgia (IEM) Completed NCT01090622 Phase 1, Phase 2 XPF-001;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, Breast, Pancreas

Publications for Erythermalgia, Primary

Articles related to Erythermalgia, Primary:

(show top 50) (show all 208)
# Title Authors Year
1
The role of skin biopsy in differentiating small-fiber neuropathy from ganglionopathy. ( 30520237 )
2019
2
Expression of pathogenic SCN9A mutations in the zebrafish: A model to study small-fiber neuropathy. ( 30316835 )
2019
3
Incidence of nonamyloidogenic mutations in the transthyretin gene in patients with autonomic and small fiber neuropathy. ( 28556268 )
2018
4
Fibromyalgia and small fiber neuropathy: the plot thickens! ( 30238382 )
2018
5
Gender Differences in Skin Biopsy Findings in Small Fiber Neuropathy: A Retrospective Chart Review. ( 30439752 )
2018
6
The pain dynamics of small fiber neuropathy. ( 30529697 )
2018
7
Biopsy-Proven Small-Fiber Neuropathy in Primary Sjögren's Syndrome:Neuropathic Pain Characteristics, Autoantibody Findings, and Histopathological Features. ( 30221483 )
2018
8
Characterization of Neuropathic Pain in Primary Sjögren's Syndrome with Respect to Neurophysiological Evidence of Small-Fiber Neuropathy. ( 30247738 )
2018
9
Office approach to small fiber neuropathy. ( 30289758 )
2018
10
Low Sensitivity of Skin Biopsy in Diagnosing Small Fiber Neuropathy in Chinese Americans. ( 30124554 )
2018
11
Reply to "Work-up for mitochondrial small fiber neuropathy requires application of skin biopsies". ( 30025801 )
2018
12
Work-up for mitochondrial small fiber neuropathy requires application of skin biopsies. ( 30025802 )
2018
13
Small Fiber Neuropathy: Disease Classification Beyond Pain and Burning. ( 29706768 )
2018
14
Definition and diagnosis of small fiber neuropathy: consensus from the Peripheral Neuropathy Scientific Department of the Brazilian Academy of Neurology. ( 29809227 )
2018
15
The role of skin biopsy in differentiating small-fiber neuropathy from ganglionopathy. ( 29493845 )
2018
16
Long-Time Course of Idiopathic Small Fiber Neuropathy. ( 29518780 )
2018
17
N-hexane exposure: a cause of small fiber neuropathy. ( 29542204 )
2018
18
Corneal nerve fiber size adds utility to the diagnosis and assessment of therapeutic response in patients with small fiber neuropathy. ( 29549285 )
2018
19
Establishing a Mouse Model of a Pure Small Fiber Neuropathy with the Ultrapotent Agonist of Transient Receptor Potential Vanilloid Type 1. ( 29553496 )
2018
20
Small-Fiber Neuropathy in a Pediatric Patient Following Anti-Tumor Necrosis Factor-α Therapy for Ulcerative Colitis. ( 29620599 )
2018
21
The incidental finding of elevated anti GQ1B antibodies in a patient with selective small fiber neuropathy. ( 29627021 )
2018
22
Distinct TrkA and Ret modulated negative and positive neuropathic behaviors in a mouse model of resiniferatoxin-induced small fiber neuropathy. ( 29106982 )
2018
23
Associated conditions in small fiber neuropathy - a large cohort study and review of the literature. ( 29112785 )
2018
24
Small fiber neuropathy: Diagnosis, causes, and treatment. ( 29154979 )
2018
25
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
26
Corneal confocal microscopy detects severe small fiber neuropathy in diabetic patients with Charcot neuroarthropathy. ( 29380548 )
2018
27
Small-fiber neuropathy and pain sensitization in survivors of pediatric acute lymphoblastic leukemia. ( 29396168 )
2018
28
Small fiber neuropathy: a disabling and underrecognized syndrome. ( 28639956 )
2017
29
Small fiber neuropathy presenting during the antecedent period of undifferentiated arthritis prior to rheumatoid arthritis. ( 29431174 )
2017
30
Pyridoxine Toxicity Small Fiber Neuropathy With Dysautonomia: A Case Report. ( 28827489 )
2017
31
The histopathological evaluation of small fiber neuropathy in patients with vitamin B12 deficiency. ( 29052170 )
2017
32
Impact of pain on cognitive functions in primary Sjögren syndrome with small fiber neuropathy: 10 cases and a literature review. ( 28422829 )
2017
33
Effects of small-fiber neuropathy induced by resiniferatoxin on skin healing and axonal regrowth after burn. ( 27743736 )
2017
34
Diagnostic Criteria for Small Fiber Neuropathy. ( 28221302 )
2017
35
Sarcoidosis-associated small fiber neuropathy in a large cohort: Clinical aspects and response to IVIG and anti-TNF alpha treatment. ( 28318820 )
2017
36
Sudomotor dysfunction as a measure of small fiber neuropathy in type 1 diabetes. ( 28325598 )
2017
37
Efficacious Dorsal Root Ganglion Stimulation for Painful Small Fiber Neuropathy: A Case Report. ( 28339448 )
2017
38
Small fiber neuropathy or small fiber pathology? ( 28414705 )
2017
39
A Unique Case for Spinal Cord Stimulation: Successful Treatment of Small Fiber Neuropathy Pain Using Multiple Spinal Cord Stimulators. ( 28791051 )
2017
40
Clinical and Laboratory Profiles of Idiopathic Small Fiber Neuropathy in Children: Case Series. ( 28827487 )
2017
41
Evidence of small-fiber neuropathy (SFN) in two patients with unexplained genital sensory loss and sensory urinary cystopathy. ( 28870595 )
2017
42
Candesartan prevents resiniferatoxin-induced sensory small-fiber neuropathy in mice by promoting angiotensin II-mediated AT2 receptor stimulation. ( 28882562 )
2017
43
A prospective, observational study of patients with uncommon distal symmetric painful small-fiber neuropathy. ( 28957343 )
2017
44
Small fiber neuropathy is a common feature of Ehlers-Danlos syndromes. ( 27306637 )
2016
45
Small Fiber Neuropathy in Children: Two Case Reports Illustrating the Importance of Recognition. ( 27660061 )
2016
46
Presence of Decreased Intraepidermal Nerve Fiber Density Consistent with Small Fiber Neuropathy in Patients with Central Post-Stroke Pain. ( 26893113 )
2016
47
Automated PGP9.5 immunofluorescence staining: a valuable tool in the assessment of small fiber neuropathy? ( 27215701 )
2016
48
Evidence of small fiber neuropathy in a patient with Ehlers-Danlos syndrome, hypermobility-type. ( 26750577 )
2016
49
NRP-1 Receptor Expression Mismatch in Skin of Subjects with Experimental and Diabetic Small Fiber Neuropathy. ( 27598321 )
2016
50
No Fabry Disease in Patients Presenting with Isolated Small Fiber Neuropathy. ( 26866599 )
2016

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 348)
# 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.721T> A (p.Ser241Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs80356470 GRCh37 Chromosome 2, 167159780: 167159780
6 SCN9A NM_002977.3(SCN9A): c.721T> A (p.Ser241Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs80356470 GRCh38 Chromosome 2, 166303270: 166303270
7 SCN9A NM_002977.3(SCN9A): c.4345T> G (p.Phe1449Val) single nucleotide variant Pathogenic rs80356478 GRCh37 Chromosome 2, 167083097: 167083097
8 SCN9A NM_002977.3(SCN9A): c.4345T> G (p.Phe1449Val) single nucleotide variant Pathogenic rs80356478 GRCh38 Chromosome 2, 166226587: 166226587
9 SCN9A NM_002977.3(SCN9A): c.2572C> T (p.Leu858Phe) single nucleotide variant Pathogenic rs80356476 GRCh37 Chromosome 2, 167133762: 167133762
10 SCN9A NM_002977.3(SCN9A): c.2572C> T (p.Leu858Phe) single nucleotide variant Pathogenic rs80356476 GRCh38 Chromosome 2, 166277252: 166277252
11 SCN9A NM_002977.3(SCN9A): c.647T> C (p.Phe216Ser) single nucleotide variant Pathogenic rs80356469 GRCh37 Chromosome 2, 167160789: 167160789
12 SCN9A NM_002977.3(SCN9A): c.647T> C (p.Phe216Ser) single nucleotide variant Pathogenic rs80356469 GRCh38 Chromosome 2, 166304279: 166304279
13 SCN9A NM_002977.3(SCN9A): c.29A> G (p.Gln10Arg) single nucleotide variant Likely benign rs267607030 GRCh37 Chromosome 2, 167168238: 167168238
14 SCN9A NM_002977.3(SCN9A): c.29A> G (p.Gln10Arg) single nucleotide variant Likely benign rs267607030 GRCh38 Chromosome 2, 166311728: 166311728
15 SCN9A NM_002977.3(SCN9A): c.3448C> T (p.Arg1150Trp) single nucleotide variant Benign rs6746030 GRCh38 Chromosome 2, 166242648: 166242648
16 SCN9A NM_002977.3(SCN9A): c.406A> G (p.Ile136Val) single nucleotide variant Pathogenic rs80356468 GRCh37 Chromosome 2, 167163081: 167163081
17 SCN9A NM_002977.3(SCN9A): c.406A> G (p.Ile136Val) single nucleotide variant Pathogenic rs80356468 GRCh38 Chromosome 2, 166306571: 166306571
18 SCN9A NM_002977.3(SCN9A): c.601T> G (p.Leu201Val) single nucleotide variant Uncertain significance rs80356465 GRCh37 Chromosome 2, 167160835: 167160835
19 SCN9A NM_002977.3(SCN9A): c.601T> G (p.Leu201Val) single nucleotide variant Uncertain significance rs80356465 GRCh38 Chromosome 2, 166304325: 166304325
20 SCN9A NM_002977.3(SCN9A): c.616A> G (p.Asn206Asp) single nucleotide variant Benign rs80356466 GRCh37 Chromosome 2, 167160820: 167160820
21 SCN9A NM_002977.3(SCN9A): c.616A> G (p.Asn206Asp) single nucleotide variant Benign rs80356466 GRCh38 Chromosome 2, 166304310: 166304310
22 SCN9A NM_002977.3(SCN9A): c.5723A> G (p.Asp1908Gly) single nucleotide variant Benign rs3750904 GRCh37 Chromosome 2, 167055393: 167055393
23 SCN9A NM_002977.3(SCN9A): c.5723A> G (p.Asp1908Gly) single nucleotide variant Benign rs3750904 GRCh38 Chromosome 2, 166198883: 166198883
24 SCN9A NM_002977.3(SCN9A): c.554G> A (p.Arg185His) single nucleotide variant Conflicting interpretations of pathogenicity rs73969684 GRCh38 Chromosome 2, 166305834: 166305834
25 SCN9A NM_002977.3(SCN9A): c.554G> A (p.Arg185His) single nucleotide variant Conflicting interpretations of pathogenicity rs73969684 GRCh37 Chromosome 2, 167162344: 167162344
26 SCN9A NM_002977.3(SCN9A): c.2215A> G (p.Ile739Val) single nucleotide variant Conflicting interpretations of pathogenicity rs182650126 GRCh38 Chromosome 2, 166280452: 166280452
27 SCN9A NM_002977.3(SCN9A): c.2215A> G (p.Ile739Val) single nucleotide variant Conflicting interpretations of pathogenicity rs182650126 GRCh37 Chromosome 2, 167136962: 167136962
28 SCN9A NM_002977.3(SCN9A): c.4366-10_4366-7delGTTT deletion Benign rs77944059 GRCh37 Chromosome 2, 167060981: 167060984
29 SCN9A NM_002977.3(SCN9A): c.4366-10_4366-7delGTTT deletion Benign rs77944059 GRCh38 Chromosome 2, 166204471: 166204474
30 SCN9A NM_002977.3(SCN9A): c.2072-14C> T single nucleotide variant Benign rs6432893 GRCh37 Chromosome 2, 167137119: 167137119
31 SCN9A NM_002977.3(SCN9A): c.2072-14C> T single nucleotide variant Benign rs6432893 GRCh38 Chromosome 2, 166280609: 166280609
32 SCN9A NM_002977.3(SCN9A): c.2072-15G> A single nucleotide variant Benign rs4525717 GRCh37 Chromosome 2, 167137120: 167137120
33 SCN9A NM_002977.3(SCN9A): c.2072-15G> A single nucleotide variant Benign rs4525717 GRCh38 Chromosome 2, 166280610: 166280610
34 SCN9A NM_002977.3(SCN9A): c.1942-3dupT duplication Benign rs35888674 GRCh37 Chromosome 2, 167138321: 167138321
35 SCN9A NM_002977.3(SCN9A): c.1942-3dupT duplication Benign rs35888674 GRCh38 Chromosome 2, 166281811: 166281811
36 SCN9A NM_002977.3(SCN9A): c.1398C> T (p.Ser466=) single nucleotide variant Benign/Likely benign rs201531206 GRCh37 Chromosome 2, 167143050: 167143050
37 SCN9A NM_002977.3(SCN9A): c.1398C> T (p.Ser466=) single nucleotide variant Benign/Likely benign rs201531206 GRCh38 Chromosome 2, 166286540: 166286540
38 SCN9A NM_002977.3(SCN9A): c.1555G> A (p.Glu519Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs187453572 GRCh37 Chromosome 2, 167142893: 167142893
39 SCN9A NM_002977.3(SCN9A): c.1555G> A (p.Glu519Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs187453572 GRCh38 Chromosome 2, 166286383: 166286383
40 SCN9A NM_002977.3(SCN9A): c.2359A> G (p.Met787Val) single nucleotide variant Benign/Likely benign rs149707354 GRCh37 Chromosome 2, 167134775: 167134775
41 SCN9A NM_002977.3(SCN9A): c.2359A> G (p.Met787Val) single nucleotide variant Benign/Likely benign rs149707354 GRCh38 Chromosome 2, 166278265: 166278265
42 SCN9A NM_002977.3(SCN9A): c.4281C> T (p.Val1427=) single nucleotide variant Conflicting interpretations of pathogenicity rs188336294 GRCh37 Chromosome 2, 167083161: 167083161
43 SCN9A NM_002977.3(SCN9A): c.4281C> T (p.Val1427=) single nucleotide variant Conflicting interpretations of pathogenicity rs188336294 GRCh38 Chromosome 2, 166226651: 166226651
44 SCN9A NM_002977.3(SCN9A): c.5746C> T (p.Leu1916Phe) single nucleotide variant Benign/Likely benign rs111558968 GRCh37 Chromosome 2, 167055370: 167055370
45 SCN9A NM_002977.3(SCN9A): c.5746C> T (p.Leu1916Phe) single nucleotide variant Benign/Likely benign rs111558968 GRCh38 Chromosome 2, 166198860: 166198860
46 SCN9A NM_002977.3(SCN9A): c.5678G> A (p.Arg1893His) single nucleotide variant Conflicting interpretations of pathogenicity rs79805025 GRCh37 Chromosome 2, 167055438: 167055438
47 SCN9A NM_002977.3(SCN9A): c.5678G> A (p.Arg1893His) single nucleotide variant Conflicting interpretations of pathogenicity rs79805025 GRCh38 Chromosome 2, 166198928: 166198928
48 SCN9A NM_002977.3(SCN9A): c.2428G> A (p.Val810Met) single nucleotide variant Conflicting interpretations of pathogenicity rs41268671 GRCh37 Chromosome 2, 167134706: 167134706
49 SCN9A NM_002977.3(SCN9A): c.2428G> A (p.Val810Met) single nucleotide variant Conflicting interpretations of pathogenicity rs41268671 GRCh38 Chromosome 2, 166278196: 166278196
50 SCN9A NM_002977.3(SCN9A): c.294C> A (p.Phe98Leu) single nucleotide variant Uncertain significance rs199824489 GRCh37 Chromosome 2, 167163549: 167163549

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 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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
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46 MGI
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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