SFN
MCID: SML026
MIFTS: 39

Small Fiber Neuropathy (SFN) malady

Neuronal category

Summaries for Small Fiber Neuropathy

Sources:
21Genetics Home Reference, 47OMIM, 33MalaCards
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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: Small Fiber Neuropathy, also known as small nerve fiber neuropathy, is related to celiac disease and colorectal cancer. An important gene associated with Small Fiber Neuropathy is SCN9A (sodium channel, voltage-gated, type IX, alpha subunit), and among its related pathways are COPII (Coat Protein 2) Mediated Vesicle Transport and Endosomal/Vacuolar pathway. The compounds ecori and dr-10 have been mentioned in the context of this disorder. Affiliated tissues include skin, dorsal root ganglion and trigeminal ganglion.

Description from OMIM:47 133020

Aliases & Classifications for Small Fiber Neuropathy

Sources:
20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal


Aliases & Descriptions:

small fiber neuropathy 20 22 21 47
small nerve fiber neuropathy 21
sfnp 21
sfn 21


Related Diseases for Small Fiber Neuropathy

Sources:
17GeneCards, 18GeneDecks
See all sources

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



Diseases related to small fiber neuropathy

Clinical Features for Small Fiber Neuropathy

Sources:
47OMIM
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Clinical features from OMIM:

133020

Drugs & Therapeutics for Small Fiber Neuropathy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Small Fiber Neuropathy

Drug clinical trials:

Search ClinicalTrials for Small Fiber Neuropathy

Search NIH Clinical Center for Small Fiber Neuropathy

Search CenterWatch for Small Fiber Neuropathy

Genetic Tests for Small Fiber Neuropathy

Sources:
20GeneTests, 22GTR
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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

Sources:
33MalaCards
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MalaCards organs/tissues related to Small Fiber Neuropathy:

33
Skin, Dorsal root ganglion, Trigeminal ganglion

Animal Models for Small Fiber Neuropathy or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Small Fiber Neuropathy

Sources:
51PubMed
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Articles related to Small Fiber Neuropathy:

(show top 50)    (show all 108)
idTitleAuthorsYear
1
Dermal innervation in healthy subjects and small fiber neuropathy patients: a stereological reappraisal. (23521644)
2013
2
Assessment of small fiber neuropathy through a quick, simple and non invasive method in a German diabetes outpatient clinic. (23073917)
2013
3
Sudoscan, a noninvasive tool for detecting diabetic small fiber neuropathy and autonomic dysfunction. (23889506)
2013
4
Usefulness of skin biopsies in the evaluation and management of patients with suspected small fiber neuropathy. (22947232)
2013
5
Small- and large-fiber neuropathy after 40 years of type 1 diabetes: associations with glycemic control and advanced protein glycation: the Oslo Study. (24026557)
2013
6
Small fiber neuropathy in the chronic phase of Chagas disease: a case report. (23475268)
2013
7
Case study: use of vibration therapy in the treatment of diabetic peripheral small fiber neuropathy. (23561872)
2013
8
Small-fiber neuropathy Nav1.8 mutation shifts activation to hyperpolarized potentials and increases excitability of dorsal root ganglion neurons. (23986244)
2013
9
Axon reflex flare and quantitative sudomotor axon reflex contribute in the diagnosis of small fiber neuropathy. (23180613)
2013
10
Small fibers, large impact: Quality of life in small-fiber neuropathy. (23716362)
2013
11
Incidence and prevalence of small-fiber neuropathy: a survey in the Netherlands. (23997150)
2013
12
A human model of small fiber neuropathy to study wound healing. (23382960)
2013
13
Corneal confocal microscopy detects small-fiber neuropathy in Charcot-Marie-Tooth disease type 1A patients. (22996176)
2012
14
Small fiber neuropathy in Fabry disease. (22497776)
2012
15
Measures of small-fiber neuropathy in HIV infection. (22542355)
2012
16
Safety and efficacy of ARA 290 in sarcoidosis patients with symptoms of small fiber neuropathy: a randomized, double-blind pilot study. (23168581)
2012
17
Nav1.7-related small fiber neuropathy: impaired slow-inactivation and DRG neuron hyperexcitability. (22539570)
2012
18
The small fiber neuropathy screening list: Construction and cross-validation in sarcoidosis. (20889323)
2011
19
Asymptomatic small fiber neuropathy in diabetes mellitus: investigations with intraepidermal nerve fiber density, quantitative sensory testing and laser-evoked potentials. (21472496)
2011
20
Primary Raynaud phenomenon and small-fiber neuropathy: is there a connection? A pilot neurophysiologic study. (20035332)
2011
21
Efficacy of intravenous immunoglobulin for small fiber neuropathy associated with sarcoidosis. (20926271)
2011
22
Perspectives in refractory diabetic and amyloid small-fiber neuropathy. (22277460)
2011
23
Elevated proinflammatory cytokine expression in affected skin in small fiber neuropathy. (20513817)
2010
24
Electrically evoked nociceptive potentials for early detection of diabetic small-fiber neuropathy. (20192984)
2010
25
Size matters - small fiber neuropathy in the Guillain-BarrAc syndrome. (20591570)
2010
26
Reply: Is reflex sympathetic dystrophy/complex regional pain syndrome type I a small-fiber neuropathy? (20583223)
2010
27
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. (20642627)
2010
28
Pain: do cytokines cause pain in small-fiber neuropathy? (20718115)
2010
29
Small fiber neuropathy in female patients with fabry disease. (20120004)
2010
30
Is reflex sympathetic dystrophy/complex regional pain syndrome type I a small-fiber neuropathy? (19557864)
2009
31
NeuroQuick--a novel bedside test for small fiber neuropathy? (18325802)
2008
32
Restless legs syndrome in diabetic neuropathy: a frequent manifestation of small fiber neuropathy. (17374101)
2007
33
Prevalence of somatic small fiber neuropathy in obesity. (16770330)
2007
34
Small-fiber neuropathy and the 3243A>G mutation in mitochondrial DNA. (17410323)
2007
35
Concordance between epidermal nerve fiber density and sensory examination in patients with symptoms of idiopathic small fiber neuropathy. (17337273)
2007
36
Evaluation of cutaneous autonomic innervation in idiopathic sensory small-fiber neuropathy. (17565534)
2007
37
The utility of skin biopsy for prediction of progression in suspected small fiber neuropathy. (16434668)
2006
38
Small-Fiber Neuropathy Associated with Capecitabine (Xeloda)-induced Hand-foot Syndrome: A Case Report. (19078798)
2006
39
Improvement of small fiber neuropathy in a sarcoidosis patient after treatment with infliximab. (16933474)
2006
40
Association of HLA DQB1 0602 in sarcoidosis patients with small fiber neuropathy. (16053028)
2005
41
Quantitative thermal sensory testing -- value of testing for both cold and warm sensation detection in evaluation of small fiber neuropathy. (16202822)
2005
42
Small fiber neuropathy due to isolated vasculitis of the peripheral nervous system. (15055280)
2004
43
Intraepidermal nerve fibers are indicators of small-fiber neuropathy in both diabetic and nondiabetic patients. (15277426)
2004
44
Small fiber neuropathy: a common and important clinical disorder. (15546602)
2004
45
Small fiber neuropathy in diabetes: clinical consequence and assessment. (15866784)
2004
46
A comparison of quantitative sensory testing with skin biopsy in small fiber neuropathy. (19078704)
2003
47
Small-fiber neuropathy. (12210380)
2002
48
Small fiber neuropathy and neurovascular disturbances in diabetes mellitus. (11460591)
2001
49
Small fiber neuropathy and vasculitis. (9182930)
1997
50
Small-fiber neuropathy determination: a reply. (3251476)
1988

Genetic Variations for Small Fiber Neuropathy

Expression for genes affiliated with Small Fiber Neuropathy

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Small Fiber Neuropathy

Search GEO for disease gene expression data for Small Fiber Neuropathy.

Pathways for genes affiliated with Small Fiber Neuropathy

Sources:
54Reactome, 12EMD Millipore, 30KEGG, 38NCBI BioSystems Database, 52QIAGEN
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Pathways related to Small Fiber Neuropathy according to GeneCards/GeneDecks:

(show all 22)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.3HLA-B, HLA-A
29.3HLA-A, HLA-B
3
Immune response IFN alpha/beta signaling pathway
Hide members
9.3HLA-A, HLA-B
49.3HLA-A, HLA-B
59.1HLA-DRB1, HLA-DQB1
6
Hide members
9.1HLA-DRB1, HLA-DQB1
79.1HLA-DRB1, HLA-DQB1
89.1HLA-DQB1, HLA-DRB1
9
Hide members
9.1HLA-DRB1, HLA-DQB1
109.1HLA-DQB1, HLA-DRB1
11
Immune response Antigen presentation by MHC class II
Hide members
9.1HLA-DQB1, HLA-DRB1
12
Hide members
9.0HLA-A, HLA-DRB1
13
Hide members
9.0HLA-A, HLA-DRB1
148.0HLA-DQB1, HLA-B, HLA-DRB1, HLA-A
15
Hide members
8.0HLA-A, HLA-DRB1, HLA-B, HLA-DQB1
168.0HLA-DQB1, HLA-B, HLA-DRB1, HLA-A
178.0HLA-A, HLA-DRB1, HLA-B, HLA-DQB1
18
Hide members
8.0HLA-DQB1, HLA-B, HLA-DRB1, HLA-A
19
Hide members
8.0HLA-DQB1, HLA-B, HLA-DRB1, HLA-A
20
Hide members
8.0HLA-A, HLA-DRB1, HLA-B, HLA-DQB1
21
Hide members
8.0HLA-DQB1, HLA-B, HLA-DRB1, HLA-A
228.0HLA-A, HLA-DRB1, HLA-B, HLA-DQB1

Compounds for genes affiliated with Small Fiber Neuropathy

Sources:
45Novoseek, 11DrugBank, 24HMDB
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Compounds related to Small Fiber Neuropathy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1ecori459.3HLA-DQB1, HLA-B
2dr-10459.1HLA-A, HLA-DRB1
3ursodeoxycholic acid45 11 2411.0HLA-A, HLA-B
4oligonucleotide458.0HLA-A, HLA-DRB1, HLA-B, HLA-DQB1
5tyrosine458.0HLA-A, HLA-DRB1, HLA-B, HLA-DQB1

GO Terms for genes affiliated with Small Fiber Neuropathy

Sources:
16Gene Ontology
See all sources

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1MHC class I protein complexGO:0426129.5HLA-A, HLA-B
2early endosome membraneGO:0319019.3HLA-A, HLA-B
3MHC class II protein complexGO:0426139.3HLA-DQB1, HLA-DRB1
4clathrin-coated endocytic vesicle membraneGO:0306699.2HLA-DRB1, HLA-DQB1
5phagocytic vesicle membraneGO:0306709.2HLA-A, HLA-B
6transport vesicle membraneGO:0306589.2HLA-DRB1, HLA-DQB1
7trans-Golgi network membraneGO:0325889.1HLA-DQB1, HLA-DRB1
8endocytic vesicle membraneGO:0306668.8HLA-DRB1, HLA-DQB1
9integral to lumenal side of endoplasmic reticulum membraneGO:0715568.2HLA-A, HLA-DRB1, HLA-B, HLA-DQB1
10ER to Golgi transport vesicle membraneGO:0125078.2HLA-DQB1, HLA-B, HLA-DRB1, HLA-A
11Golgi membraneGO:0001398.2HLA-A, HLA-DRB1, HLA-B, HLA-DQB1

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independentGO:0024809.5HLA-A, HLA-B
2positive regulation of T cell mediated cytotoxicityGO:0019169.5HLA-A, HLA-B
3type I interferon-mediated signaling pathwayGO:0603379.4HLA-A, HLA-B
4immunoglobulin production involved in immunoglobulin mediated immune responseGO:0023819.4HLA-DRB1, HLA-DQB1
5humoral immune response mediated by circulating immunoglobulinGO:0024559.3HLA-DQB1, HLA-DRB1
6antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependentGO:0024799.3HLA-A, HLA-B
7antigen processing and presentation of exogenous peptide antigen via MHC class IGO:0425909.2HLA-A, HLA-B
8T cell costimulationGO:0312959.2HLA-DQB1, HLA-DRB1
9antigen processing and presentation of exogenous peptide antigen via MHC class IIGO:0198869.1HLA-DRB1, HLA-DQB1
10T cell receptor signaling pathwayGO:0508528.8HLA-DRB1, HLA-DQB1
11detection of bacteriumGO:0160458.8HLA-A, HLA-DRB1, HLA-B
12interferon-gamma-mediated signaling pathwayGO:0603338.3HLA-A, HLA-DRB1, HLA-B, HLA-DQB1
13cytokine-mediated signaling pathwayGO:0192218.2HLA-DQB1, HLA-B, HLA-DRB1, HLA-A
14immune responseGO:0069558.2HLA-A, HLA-DRB1, HLA-B, HLA-DQB1

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
2peptide antigen bindingGO:0426058.2HLA-A, HLA-DRB1, HLA-B

Products for genes affiliated with Small Fiber Neuropathy

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  • Proteins
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Sources for Small Fiber Neuropathy

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet