SFN
MCID: SML026
MIFTS: 37

Small Fiber Neuropathy (SFN) malady

Neuronal diseases category

Summaries for Small Fiber Neuropathy

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21Genetics Home Reference, 46OMIM, 32MalaCards
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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 neuropathy and sarcoidosis. 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.

Description from OMIM:46 133020

Aliases & Classifications for Small Fiber Neuropathy

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Sources:
20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM
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Classifications:

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


Aliases & Descriptions:

small fiber neuropathy 20 22 21 46
small nerve fiber neuropathy 21
sfnp 21
sfn 21


Related Diseases for Small Fiber Neuropathy

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Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Small Fiber Neuropathy:



Diseases related to small fiber neuropathy

Clinical Features for Small Fiber Neuropathy

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46OMIM
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Clinical features from OMIM:

133020

Drugs & Therapeutics for Small Fiber Neuropathy

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Small Fiber Neuropathy

Search CenterWatch for Small Fiber Neuropathy

Genetic Tests for Small Fiber Neuropathy

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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

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32MalaCards
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MalaCards organs/tissues related to Small Fiber Neuropathy:

32
Skin

Animal Models for Small Fiber Neuropathy or affiliated genes

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Publications for Small Fiber Neuropathy

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Genetic Variations for Small Fiber Neuropathy

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Small Fiber Neuropathy:

62
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

Expression for genes affiliated with Small Fiber Neuropathy

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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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Sources:
53Reactome, 12EMD Millipore, 29KEGG, 37NCBI BioSystems Database, 51QIAGEN
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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
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9.3HLA-A, HLA-B
49.3HLA-A, HLA-B
59.1HLA-DRB1, HLA-DQB1
6
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9.1HLA-DRB1, HLA-DQB1
79.1HLA-DRB1, HLA-DQB1
89.1HLA-DQB1, HLA-DRB1
9
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9.1HLA-DRB1, HLA-DQB1
109.1HLA-DQB1, HLA-DRB1
11
Immune response Antigen presentation by MHC class II
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9.1HLA-DQB1, HLA-DRB1
12
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9.0HLA-A, HLA-DRB1
13
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9.0HLA-A, HLA-DRB1
148.0HLA-DQB1, HLA-B, HLA-DRB1, HLA-A
15
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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
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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

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Sources:
44Novoseek, 11DrugBank, 24HMDB
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Compounds related to Small Fiber Neuropathy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1ecori449.3HLA-DQB1, HLA-B
2dr-10449.1HLA-A, HLA-DRB1
3ursodeoxycholic acid44 11 2411.0HLA-A, HLA-B
4oligonucleotide448.0HLA-A, HLA-DRB1, HLA-B, HLA-DQB1
5tyrosine448.0HLA-A, HLA-DRB1, HLA-B, HLA-DQB1

GO Terms for genes affiliated with Small Fiber Neuropathy

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16Gene Ontology
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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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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet