MCID: ERY029
MIFTS: 27

Erythermalgia, Primary malady

Genetic diseases (common), Neuronal diseases categories

Aliases & Classifications for Erythermalgia, Primary

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Erythermalgia, Primary, Aliases & Descriptions:

Name: Erythermalgia, Primary 45 10
Small Fiber Neuropathy 45 20 21 22 60
Small Nerve Fiber Neuropathy 21
 
Sfnp 21
Sfn 21


Classifications:

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


External Ids:

OMIM45 133020

Summaries for Erythermalgia, Primary

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OMIM:45 'Primary erythermalgia' is an autosomal dominant disorder characterized by childhood or adolescent onset of episodic... (133020) more...

MalaCards based summary: Erythermalgia, Primary, also known as small fiber neuropathy, is related to neuropathy and fabry disease, and has symptoms including autosomal dominant inheritance, xerostomia and blurred vision. An important gene associated with Erythermalgia, Primary is SCN9A (sodium channel, voltage-gated, type IX, alpha subunit). Affiliated tissues include skin.

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.

Related Diseases for Erythermalgia, Primary

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



Diseases related to erythermalgia, primary

Symptoms for Erythermalgia, Primary

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Symptoms by clinical synopsis from OMIM:

133020

Clinical features from OMIM:

133020

HPO human phenotypes related to Erythermalgia, Primary:

(show all 11)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 xerostomia HP:0000217
3 blurred vision HP:0000622
4 hyperhidrosis HP:0000975
5 palpitations HP:0001962
6 diarrhea HP:0002014
7 constipation HP:0002019
8 abnormality of the musculature HP:0003011
9 myalgia HP:0003326
10 juvenile onset HP:0003621
11 pain HP:0012531

Drugs & Therapeutics for Erythermalgia, Primary

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Drug clinical trials:

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Search NIH Clinical Center for Erythermalgia, Primary

Genetic Tests for Erythermalgia, Primary

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Genetic tests related to Erythermalgia, Primary:

id Genetic test Affiliating Genes
1 Small Fiber Neuropathy20 22 SCN9A

Anatomical Context for Erythermalgia, Primary

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MalaCards organs/tissues related to Erythermalgia, Primary:

31
Skin

Animal Models for Erythermalgia, Primary or affiliated genes

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Publications for Erythermalgia, Primary

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Variations for Erythermalgia, Primary

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

62 (show all 11)
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
10SCN9Ap.Ala1643GluVAR_072280
11SCN9Ap.Ala1643ThrVAR_072281

Clinvar genetic disease variations for Erythermalgia, Primary:

6 (show all 13)
id Gene Variation 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 pathogenic, 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 Erythermalgia, Primary

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Search GEO for disease gene expression data for Erythermalgia, Primary.

Pathways for genes affiliated with Erythermalgia, Primary

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Compounds for genes affiliated with Erythermalgia, Primary

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GO Terms for genes affiliated with Erythermalgia, Primary

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Products for genes affiliated with Erythermalgia, Primary

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Sources for Erythermalgia, Primary

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet