SFN
MCID: SML026
MIFTS: 49

Small Fiber Neuropathy (SFN) malady

Genetic diseases (common), Neuronal diseases categories
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Summaries for Small Fiber Neuropathy

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Genetics Home Reference:21 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.

MalaCards based summary: Small Fiber Neuropathy, also known as small nerve fiber neuropathy, is related to sarcoidosis and celiac disease. An important gene associated with Small Fiber Neuropathy is SCN9A (sodium channel, voltage-gated, type IX, alpha subunit), and among its related pathways are Glioblastoma Multiforme and Downstream signaling in naive CD8+ T cells. The compounds ecori and zonisamide have been mentioned in the context of this disorder. Affiliated tissues include skin, testes and dorsal root ganglion, and related mouse phenotype nervous system.

Description from OMIM:46 133020

Aliases & Classifications for Small Fiber Neuropathy

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Small Fiber Neuropathy, Aliases & Descriptions:

Name: Small Fiber Neuropathy 20 22 21 46 62
Small Nerve Fiber Neuropathy 21 62
 
Sfnp 21 62
Sfn 21


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)
Anatomical: Neuronal diseases


Related Diseases for Small Fiber Neuropathy

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Diseases related to Small Fiber Neuropathy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 80)
idRelated DiseaseScoreTop Affiliating Genes
1sarcoidosis31.1HLA-A, HLA-DQB1, HLA-DRB1
2celiac disease30.5HLA-A, HLA-DQB1
3diabetes mellitus30.4HLA-B, HLA-A, HLA-DQB1, HLA-DRB1
4neuropathy11.2
5erythromelalgia10.5
6narcolepsy10.4HLA-DRB1
7fabry disease10.4
8burns10.3
9charcot-marie-tooth disease10.3
10reflex sympathetic dystrophy10.3
11neuronitis10.3
12complex regional pain syndrome10.3
13tooth disease10.3
14vasculitis10.3
15fibromyalgia10.3
16multiple sclerosis 110.3HLA-DRB1, HLA-DQB1
17juvenile rheumatoid arthritis10.3HLA-DRB1, HLA-DQB1
18pulmonary tuberculosis10.3HLA-DQB1, HLA-DRB1
19type 1 diabetes mellitus10.2HLA-A, HLA-DRB1
20stevens-johnson syndrome10.2HLA-A, HLA-B
21ankylosing spondylitis10.2HLA-B, HLA-A
22hepatitis b10.2HLA-DQB1, HLA-DRB1
23plasmodium falciparum malaria10.2HLA-DRB1, HLA-B
24vaccinia10.2HLA-B, HLA-A
25behcet's disease10.2HLA-B, HLA-A
26hemochromatosis10.2HLA-A, HLA-B
27myasthenia gravis10.2HLA-B, HLA-DQB1
28graft versus host disease10.2HLA-DRB1, HLA-A
29uveal melanoma10.2HLA-A, HLA-B
30diabetic neuropathy10.2
31multiple myeloma10.2
32obesity10.2
33type 2 diabetes mellitus10.2
34wrinkles10.2
35lyme disease10.2
36restless legs syndrome10.2
37chagas disease10.2
38alcohol dependence10.2
39rabies10.2
40hypothyroidism10.2
41myeloma10.2
42polyneuropathy10.2
43charcot-marie-tooth disease type 1a10.2
44autonomic dysfunction10.2
45blindness10.2
46hepatitis10.1HLA-DRB1, HLA-A
47uveitis10.1HLA-A, HLA-B
48autoimmune hepatitis10.1HLA-A, HLA-DQB1, HLA-DRB1
49connective tissue disease10.1HLA-A, HLA-DRB1
50systemic scleroderma10.1HLA-DRB1, HLA-DQB1, HLA-A

Graphical network of the top 20 diseases related to Small Fiber Neuropathy:



Diseases related to small fiber neuropathy

Symptoms for Small Fiber Neuropathy

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Clinical features from OMIM:

133020

Drugs & Therapeutics for Small Fiber Neuropathy

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Drug clinical trials:

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Search NIH Clinical Center for Small Fiber Neuropathy

Genetic Tests for Small Fiber Neuropathy

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Genetic tests related to Small Fiber Neuropathy:

id Genetic test Affiliating Genes
1 Small Fiber Neuropathy20 22 SCN9A

Anatomical Context for Small Fiber Neuropathy

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MalaCards organs/tissues related to Small Fiber Neuropathy:

32
Skin, Testes, Dorsal root ganglion

Animal Models for Small Fiber Neuropathy or affiliated genes

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MGI Mouse Phenotypes related to Small Fiber Neuropathy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036318.3RAF1, FZD6, SCN9A, HLA-DQB1, HLA-B

Publications for Small Fiber Neuropathy

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Articles related to Small Fiber Neuropathy:

(show top 50)    (show all 113)
idTitleAuthorsYear
1
Idiopathic small fiber neuropathy: phenotype, etiologies, and the search for fabry disease. (24829596)
2014
2
Acute small fiber neuropathy following Mycoplasma infection: a rare variant of Guillain-BarrAc syndrome. (24872212)
2014
3
Fibromyalgia and small fiber neuropathy. (25132675)
2014
4
Small fiber neuropathy associated with hyperlipidemia: utility of cutaneous silent periods and autonomic tests. (25006499)
2014
5
Incidence and prevalence of small-fiber neuropathy: a survey in the Netherlands. (24733860)
2014
6
SjAPgren Syndrome-Associated Small Fiber Neuropathy: Characterization From a Prospective Series of 40 Cases. (23982054)
2013
7
Utility of skin biopsy in management of small fiber neuropathy. (23553795)
2013
8
Dermal innervation in healthy subjects and small fiber neuropathy patients: a stereological reappraisal. (23521644)
2013
9
Assessment of small fiber neuropathy through a quick, simple and non invasive method in a German diabetes outpatient clinic. (23073917)
2013
10
Sudoscan, a noninvasive tool for detecting diabetic small fiber neuropathy and autonomic dysfunction. (23889506)
2013
11
Usefulness of skin biopsies in the evaluation and management of patients with suspected small fiber neuropathy. (22947232)
2013
12
Successful use of flupirtine in refractory neuropathic pain due to small fiber neuropathy. (22495792)
2013
13
Corneal confocal microscopy detects small-fiber neuropathy in Charcot-Marie-Tooth disease type 1A patients. (22996176)
2012
14
Gain of function NaI11.7 mutations in idiopathic small fiber neuropathy. (21698661)
2012
15
Small fiber neuropathy: is skin biopsy the holy grail? (22570215)
2012
16
Small fiber neuropathy in Fabry disease. (22497776)
2012
17
Sarcoidosis and pain caused by small-fiber neuropathy. (23304492)
2012
18
Sarcoidosis and small-fiber neuropathy. (21298560)
2011
19
The small fiber neuropathy screening list: Construction and cross-validation in sarcoidosis. (20889323)
2011
20
Asymptomatic small fiber neuropathy in diabetes mellitus: investigations with intraepidermal nerve fiber density, quantitative sensory testing and laser-evoked potentials. (21472496)
2011
21
Primary Raynaud phenomenon and small-fiber neuropathy: is there a connection? A pilot neurophysiologic study. (20035332)
2011
22
Diagnosis and treatment of pain in small-fiber neuropathy. (21286866)
2011
23
Non-length dependent small fiber neuropathy. a prospective case series. (20433606)
2010
24
Elevated proinflammatory cytokine expression in affected skin in small fiber neuropathy. (20513817)
2010
25
Electrically evoked nociceptive potentials for early detection of diabetic small-fiber neuropathy. (20192984)
2010
26
Cutaneous silent period changes in Type 2 diabetes mellitus patients with small fiber neuropathy. (20138004)
2010
27
Skin biopsy for diagnosis of small fiber neuropathy: a critically appraised topic. (20065802)
2010
28
Size matters - small fiber neuropathy in the Guillain-BarrAc syndrome. (20591570)
2010
29
Reply: Is reflex sympathetic dystrophy/complex regional pain syndrome type I a small-fiber neuropathy? (20583223)
2010
30
European Federation of Neurological Societies/Peripheral Nerve Society Guideline on the use of skin biopsy in the diagnosis of small fiber neuropathy. Report of a joint task force of the European Federation of Neurological Societies and the Peripheral Nerve Society. (20626771)
2010
31
Small fiber neuropathy following vaccination for rabies, varicella or Lyme disease. (19808027)
2009
32
Small fiber neuropathy in Charcot-Marie-Tooth disease. (20120209)
2009
33
Pitfalls of diagnostic criteria for small fiber neuropathy. (18839004)
2008
34
Restless legs syndrome in diabetic neuropathy: a frequent manifestation of small fiber neuropathy. (17374101)
2007
35
Prevalence of somatic small fiber neuropathy in obesity. (16770330)
2007
36
Small-fiber neuropathy and the 3243A>G mutation in mitochondrial DNA. (17410323)
2007
37
Erythromelalgia: an underrecognized manifestation of small-fiber neuropathy. (16901020)
2006
38
The utility of skin biopsy for prediction of progression in suspected small fiber neuropathy. (16434668)
2006
39
Small-Fiber Neuropathy Associated with Capecitabine (Xeloda)-induced Hand-foot Syndrome: A Case Report. (19078798)
2006
40
Small-fiber neuropathy: answering the burning questions. (16525192)
2006
41
Association of HLA DQB1 0602 in sarcoidosis patients with small fiber neuropathy. (16053028)
2005
42
Small fiber neuropathy is associated with the metabolic syndrome. (18370718)
2005
43
Large and small fiber neuropathy in chronic alcohol-dependent subjects. (16279987)
2005
44
Small-fiber neuropathy/neuronopathy associated with celiac disease: skin biopsy findings. (16216941)
2005
45
Erythromelalgia: small-fiber neuropathy by any other name? (15995080)
2005
46
Association of small fiber neuropathy with cardiac sympathetic dysfunction in sarcoidosis. (15881279)
2005
47
A quantitative method for the assessment of intraepidermal nerve fibers in small-fiber neuropathy. (15789134)
2005
48
Quantitative thermal sensory testing -- value of testing for both cold and warm sensation detection in evaluation of small fiber neuropathy. (16202822)
2005
49
Small fiber neuropathy due to isolated vasculitis of the peripheral nervous system. (15055280)
2004
50
Early detection of small-fiber neuropathy in diabetes: a laser-induced pain somatosensory-evoked potentials and pupillometric study. (12453990)
2002

Variations for Small Fiber Neuropathy

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UniProtKB/Swiss-Prot genetic disease variations for Small Fiber Neuropathy:

64
id Symbol AA change Variation ID SNP ID
1SCN9Ap.Ile859ThrVAR_019947
2SCN9Ap.Leu869HisVAR_019948
3SCN9Ap.Ser241ThrVAR_032014
4SCN9Ap.Phe1460ValVAR_032019
5SCN9Ap.Gln10ArgVAR_064595
6SCN9Ap.Phe216SerVAR_064598
7SCN9Ap.Asn395LysVAR_064600
8SCN9Ap.Glu406LysVAR_064601
9SCN9Ap.Leu869PheVAR_064609

Clinvar genetic disease variations for Small Fiber Neuropathy:

6 (show all 13)
id Gene Name Type Significance SNP ID Assembly Location
1NM_002977.3(SCN9A): c.1185C> A (p.Asn395Lys)single nucleotide variantPathogenicrs80356471GRCh37Chr 2, 167145076: 167145076
2NM_002977.3(SCN9A): c.2468T> G (p.Leu823Arg)single nucleotide variantPathogenicrs80356473GRCh37Chr 2, 167134666: 167134666
3NM_002977.3(SCN9A): c.2587G> C (p.Ala863Pro)single nucleotide variantPathogenicrs80356477GRCh37Chr 2, 167133747: 167133747
4SCN9ANM_002977.3(SCN9A): c.406A> G (p.Ile136Val)single nucleotide variantPathogenicrs80356468GRCh37Chr 2, 167163081: 167163081
5NM_002977.3(SCN9A): c.2159T> A (p.Ile720Lys)single nucleotide variantLikely pathogenicrs200945460GRCh37Chr 2, 167137018: 167137018
6NM_002977.3(SCN9A): c.1867G> A (p.Asp623Asn)single nucleotide variantPathogenicrs200398202GRCh37Chr 2, 167141070: 167141070
7NM_002977.3(SCN9A): c.2573T> A (p.Leu858His)single nucleotide variantPathogenicrs80356475GRCh37Chr 2, 167133761: 167133761
8NM_002977.3(SCN9A): c.2543T> C (p.Ile848Thr)single nucleotide variantPathogenicrs80356474GRCh37Chr 2, 167133791: 167133791
9SCN9ANM_002977.3(SCN9A): c.721T> A (p.Ser241Thr)single nucleotide variantPathogenicrs80356470GRCh37Chr 2, 167159780: 167159780
10NM_002977.3(SCN9A): c.4345T> G (p.Phe1449Val)single nucleotide variantPathogenicrs80356478GRCh37Chr 2, 167083097: 167083097
11NM_002977.3(SCN9A): c.2572C> T (p.Leu858Phe)single nucleotide variantPathogenicrs80356476GRCh37Chr 2, 167133762: 167133762
12SCN9ANM_002977.3(SCN9A): c.647T> C (p.Phe216Ser)single nucleotide variantPathogenicrs80356469GRCh37Chr 2, 167160789: 167160789
13SCN9ANM_002977.3(SCN9A): c.29A> G (p.Gln10Arg)single nucleotide variantPathogenicrs267607030GRCh37Chr 2, 167168238: 167168238

Expression for genes affiliated with Small Fiber Neuropathy

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Expression patterns in normal tissues for genes affiliated with Small Fiber Neuropathy

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Pathways for genes affiliated with Small Fiber Neuropathy

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Pathways related to Small Fiber Neuropathy according to GeneCards/GeneDecks:

(show all 28)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6RAF1, FZD6
2
Show member pathways
Ras signaling in the CD4+ TCR pathway37
9.5RAF1, HLA-A
3
Show member pathways
9.3HLA-B, HLA-A
4
Show member pathways
9.3HLA-A, HLA-B
59.3HLA-A, HLA-B
69.1HLA-DQB1, HLA-DRB1
7
Show member pathways
9.1HLA-DRB1, HLA-DQB1
89.1HLA-DRB1, HLA-DQB1
9
Show member pathways
9.1HLA-DRB1, HLA-DQB1
10
Show member pathways
TCR signaling in naive CD8+ T cells37
9.0HLA-DRB1, HLA-A
11
Show member pathways
Immune response IL 12 induced IFN gamma production60
9.0HLA-DRB1, HLA-A
12
Show member pathways
Immune response CD16 signaling in NK cells60
9.0RAF1, HLA-A, HLA-B
13
Show member pathways
Proteasome Degradation37
Immune response Antigen presentation by MHC class I60
8.9HLA-B, HLA-A, FZD6
14
Show member pathways
8.8HLA-DQB1, HLA-DRB1, RAF1
15
Show member pathways
8.8HLA-DQB1, HLA-DRB1, RAF1
168.8HLA-DQB1, HLA-DRB1, RAF1
17
Show member pathways
Immune response IL 22 signaling pathway60
G protein signaling N RAS regulation pathway60
8.8HLA-DQB1, HLA-DRB1, RAF1
18
Show member pathways
Immune response T cell receptor signaling pathway60
Immune response CD28 signaling60
Immune response ICOS pathway in T helper cell60
8.8RAF1, HLA-DRB1, HLA-DQB1
19
Show member pathways
8.8RAF1, HLA-DRB1, HLA-DQB1
208.0HLA-B, HLA-A, HLA-DQB1, HLA-DRB1
218.0HLA-B, HLA-A, HLA-DQB1, HLA-DRB1
22
Show member pathways
8.0HLA-B, HLA-A, HLA-DQB1, HLA-DRB1
238.0HLA-DRB1, HLA-DQB1, HLA-A, HLA-B
24
Show member pathways
7.6HLA-B, HLA-A, HLA-DQB1, HLA-DRB1, RAF1
25
Show member pathways
7.6HLA-B, HLA-A, HLA-DQB1, HLA-DRB1, RAF1
26
Show member pathways
7.6RAF1, HLA-DRB1, HLA-DQB1, HLA-A, HLA-B
27
Show member pathways
7.6RAF1, HLA-DRB1, HLA-DQB1, HLA-A, HLA-B
287.5FZD6, HLA-DRB1, HLA-DQB1, HLA-A, HLA-B

Compounds for genes affiliated with Small Fiber Neuropathy

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Compounds related to Small Fiber Neuropathy according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1ecori449.6HLA-B, HLA-DQB1
2zonisamide44 50 1111.6SCN9A, HLA-A
3allopurinol44 50 1111.4HLA-A, HLA-B
4ursodeoxycholic acid44 24 1111.3HLA-A, HLA-B
5dr-10449.3HLA-DRB1, HLA-A
6tacrolimus44 50 1111.2HLA-B, HLA-A, RAF1
7aspartate449.1RAF1, HLA-DQB1, HLA-B
8carbamazepine44 50 1111.0HLA-A, HLA-B
9cyclosporin a44 28 6110.9HLA-B, HLA-A, RAF1
10oligonucleotide447.9RAF1, HLA-DRB1, HLA-DQB1, HLA-A, HLA-B
11tyrosine447.8RAF1, HLA-DRB1, HLA-DQB1, HLA-A, HLA-B

GO Terms for genes affiliated with Small Fiber Neuropathy

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Cellular components related to Small Fiber Neuropathy according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1MHC class I protein complexGO:0426129.6HLA-A, HLA-B
2MHC class II protein complexGO:0426139.3HLA-DRB1, HLA-DQB1
3early endosome membraneGO:0319019.3HLA-A, HLA-B
4clathrin-coated endocytic vesicle membraneGO:0306699.3HLA-DRB1, HLA-DQB1
5transport vesicle membraneGO:0306589.2HLA-DQB1, HLA-DRB1
6phagocytic vesicle membraneGO:0306709.2HLA-A, HLA-B
7trans-Golgi network membraneGO:0325889.2HLA-DRB1, HLA-DQB1
8endocytic vesicle membraneGO:0306668.8HLA-DRB1, HLA-DQB1
9integral component of lumenal side of endoplasmic reticulum membraneGO:0715568.3HLA-DRB1, HLA-DQB1, HLA-A, HLA-B
10ER to Golgi transport vesicle membraneGO:0125078.2HLA-B, HLA-A, HLA-DQB1, HLA-DRB1
11Golgi membraneGO:0001398.2HLA-B, HLA-A, HLA-DQB1, HLA-DRB1
12integral component of plasma membraneGO:0058878.1HLA-B, HLA-A, HLA-DRB1, FZD6
13plasma membraneGO:0058867.3HLA-B, HLA-A, HLA-DQB1, HLA-DRB1, FZD6, RAF1

Biological processes related to Small Fiber Neuropathy according to GeneCards/GeneDecks:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independentGO:0024869.6HLA-A, HLA-B
2antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independentGO:0024809.5HLA-A, HLA-B
3positive regulation of T cell mediated cytotoxicityGO:0019169.5HLA-A, HLA-B
4type I interferon signaling pathwayGO:0603379.5HLA-B, HLA-A
5antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependentGO:0024799.4HLA-B, HLA-A
6immunoglobulin production involved in immunoglobulin mediated immune responseGO:0023819.4HLA-DRB1, HLA-DQB1
7humoral immune response mediated by circulating immunoglobulinGO:0024559.4HLA-DQB1, HLA-DRB1
8antigen processing and presentation of exogenous peptide antigen via MHC class IGO:0425909.3HLA-A, HLA-B
9regulation of immune responseGO:0507769.3HLA-A, HLA-B
10T cell costimulationGO:0312959.2HLA-DRB1, HLA-DQB1
11T cell receptor signaling pathwayGO:0508529.0HLA-DRB1, HLA-DQB1
12antigen processing and presentation of exogenous peptide antigen via MHC class IIGO:0198868.8HLA-DRB1, HLA-DQB1
13detection of bacteriumGO:0160458.8HLA-DRB1, HLA-A, HLA-B
14interferon-gamma-mediated signaling pathwayGO:0603338.3HLA-DRB1, HLA-DQB1, HLA-A, HLA-B
15cytokine-mediated signaling pathwayGO:0192218.3HLA-B, HLA-A, HLA-DQB1, HLA-DRB1
16immune responseGO:0069558.2HLA-B, HLA-A, HLA-DQB1, HLA-DRB1

Molecular functions related to Small Fiber Neuropathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1MHC class II receptor activityGO:0323959.1HLA-DRB1, HLA-DQB1
2TAP bindingGO:0469779.0HLA-A, HLA-B
3peptide antigen bindingGO:0426058.4HLA-DRB1, HLA-A, HLA-B

Products for genes affiliated with Small Fiber Neuropathy

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Sources for Small Fiber Neuropathy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet