MCID: RRP027
MIFTS: 22

Rare Peripheral Neuropathy

Categories: Immune diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Rare Peripheral Neuropathy

MalaCards integrated aliases for Rare Peripheral Neuropathy:

Name: Rare Peripheral Neuropathy 58

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

UMLS via Orphanet 72 C0031117
Orphanet 58 ORPHA98496

Summaries for Rare Peripheral Neuropathy

MalaCards based summary : Rare Peripheral Neuropathy is related to tooth disease and neuromuscular disease. An important gene associated with Rare Peripheral Neuropathy is CHRNG (Cholinergic Receptor Nicotinic Gamma Subunit), and among its related pathways/superpathways is tRNA Aminoacylation. Related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Related Diseases for Rare Peripheral Neuropathy

Graphical network of the top 20 diseases related to Rare Peripheral Neuropathy:



Diseases related to Rare Peripheral Neuropathy

Symptoms & Phenotypes for Rare Peripheral Neuropathy

GenomeRNAi Phenotypes related to Rare Peripheral Neuropathy according to GeneCards Suite gene sharing:

26 (show all 21)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-100 9.7 IARS2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-126 9.7 IARS2
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-143 9.7 IARS2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-175 9.7 HARS1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-214 9.7 IARS2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-29 9.7 HARS1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.7 HARS1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-54 9.7 HARS1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-57 9.7 IARS2
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.7 IARS2
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-93 9.7 IARS2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.32 IARS2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.32 NEFL
14 Increased shRNA abundance (Z-score > 2) GR00366-A-139 9.32 IARS2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.32 NEFL
16 Increased shRNA abundance (Z-score > 2) GR00366-A-178 9.32 NEFL
17 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.32 NEFL
18 Increased shRNA abundance (Z-score > 2) GR00366-A-211 9.32 IARS2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-5 9.32 NEFL
20 Increased shRNA abundance (Z-score > 2) GR00366-A-87 9.32 IARS2
21 Increased shRNA abundance (Z-score > 2) GR00366-A-94 9.32 IARS2

Drugs & Therapeutics for Rare Peripheral Neuropathy

Search Clinical Trials , NIH Clinical Center for Rare Peripheral Neuropathy

Genetic Tests for Rare Peripheral Neuropathy

Anatomical Context for Rare Peripheral Neuropathy

Publications for Rare Peripheral Neuropathy

Articles related to Rare Peripheral Neuropathy:

# Title Authors PMID Year
1
Corticospinal tract damage in HHH syndrome: a metabolic cause of hereditary spastic paraplegia. 61
31443672 2019
2
A Drosophila model of GDAP1 function reveals the involvement of insulin signalling in the mitochondria-dependent neuromuscular degeneration. 61
28065847 2017
3
[Davidenkow syndrome. A rare peripheral neuropathy]. 61
26826991 2016
4
The Importance of Rare Subtypes in Diagnosis and Treatment of Peripheral Neuropathy: A Review. 61
26437251 2015
5
Suprascapular neuropathy caused by heterotopic ossification after clavicle shaft fracture: a case report. 61
26662750 2012
6
Amyloid neuropathy mimicking chronic inflammatory demyelinating polyneuropathy. 61
22190302 2012
7
Rare peripheral femoral nerve neuropathy in children. 61
17273033 2007
8
Entrapment of the suprascapular nerve: anatomy, etiology, diagnosis, treatment. 61
17514177 2007
9
Confirmation of linkage of type 1 hereditary sensory neuropathy to human chromosome 9q22. 61
10025779 1999
10
Treatment of advanced seminoma with cyclophosphamide, vincristine and carboplatin on an outpatient basis. 61
8826863 1996

Variations for Rare Peripheral Neuropathy

ClinVar genetic disease variations for Rare Peripheral Neuropathy:

6 (show top 50) (show all 81) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NGLY1 NM_018297.4(NGLY1):c.1533_1536del (p.Asn511fs)deletion Pathogenic 548658 rs765211108 3:25770699-25770702 3:25729208-25729211
2 HARS1 NM_002109.6(HARS1):c.616G>T (p.Asp206Tyr)SNV Pathogenic 804285 5:140057507-140057507 5:140677922-140677922
3 HARS1 NM_002109.6:c.730delGdeletion Pathogenic 804286
4 IARS2 NM_018060.4(IARS2):c.2726C>T (p.Pro909Leu)SNV Pathogenic 156553 rs587783070 1:220316451-220316451 1:220143109-220143109
5 46;XX;inv(7)(q11.23q36.3)dninversion Pathogenic 267882
6 NEFL NM_006158.5(NEFL):c.64C>T (p.Pro22Ser)SNV Pathogenic/Likely pathogenic 14029 rs28928910 8:24813966-24813966 8:24956452-24956452
7 CHRNG NM_005199.5(CHRNG):c.256C>T (p.Arg86Cys)SNV Pathogenic/Likely pathogenic 397615 rs777219451 2:233405327-233405327 2:232540617-232540617
8 COX6A1 NM_004373.4(COX6A1):c.103+1G>CSNV Likely pathogenic 560368 rs377504835 12:120876033-120876033 12:120438230-120438230
9 PMP2 NM_002677.5(PMP2):c.128T>A (p.Ile43Asn)SNV Likely pathogenic 243087 rs879253869 8:82357170-82357170 8:81444935-81444935
10 SPTLC3 NM_018327.4(SPTLC3):c.448T>C (p.Trp150Arg)SNV Likely pathogenic 243088 rs755919784 20:13053048-13053048 20:13072400-13072400
11 NEB NM_001271208.2(NEB):c.16637G>A (p.Arg5546His)SNV Conflicting interpretations of pathogenicity 257765 rs201111610 2:152435919-152435919 2:151579405-151579405
12 NEB NM_001271208.2(NEB):c.21902C>T (p.Pro7301Leu)SNV Conflicting interpretations of pathogenicity 387835 rs367626762 2:152384038-152384038 2:151527524-151527524
13 DNAJB5 NM_001135005.3(DNAJB5):c.43C>T (p.Pro15Ser)SNV Conflicting interpretations of pathogenicity 243086 rs774909609 9:34990670-34990670 9:34990673-34990673
14 LMNA NM_170707.4(LMNA):c.344A>T (p.Glu115Val)SNV Conflicting interpretations of pathogenicity 200932 rs794728588 1:156085053-156085053 1:156115262-156115262
15 SPTAN1 NM_001130438.3(SPTAN1):c.4039G>A (p.Asp1347Asn)SNV Conflicting interpretations of pathogenicity 207286 rs574740801 9:131367749-131367749 9:128605470-128605470
16 ABCA4 NM_000350.3(ABCA4):c.203C>T (p.Pro68Leu)SNV Conflicting interpretations of pathogenicity 99113 rs62654397 1:94577093-94577093 1:94111537-94111537
17 DNM2 NM_001005360.2(DNM2):c.190G>A (p.Val64Ile)SNV Conflicting interpretations of pathogenicity 133978 rs144250390 19:10870442-10870442 19:10759766-10759766
18 LMNA NM_170707.4(LMNA):c.1634G>A (p.Arg545His)SNV Conflicting interpretations of pathogenicity 163878 rs142191737 1:156107470-156107470 1:156137679-156137679
19 MEFV NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)SNV Conflicting interpretations of pathogenicity 2547 rs104895094 16:3293403-3293403 16:3243403-3243403
20 ABCA4 NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)SNV Conflicting interpretations of pathogenicity 7879 rs76157638 1:94517254-94517254 1:94051698-94051698
21 FLRT1 NM_014067.4(MACROD1):c.517+34908C>TSNV Conflicting interpretations of pathogenicity 530943 rs143337663 11:63883803-63883803 11:64116331-64116331
22 FLRT1 NM_014067.4(MACROD1):c.517+34743C>TSNV Uncertain significance 530937 rs770193280 11:63883968-63883968 11:64116496-64116496
23 FLRT1 NM_014067.4(MACROD1):c.517+33591C>TSNV Uncertain significance 530934 rs138289564 11:63885120-63885120 11:64117648-64117648
24 FLRT1 NM_014067.4(MACROD1):c.517+33852C>GSNV Uncertain significance 530941 rs138445479 11:63884859-63884859 11:64117387-64117387
25 FLRT1 NM_014067.4(MACROD1):c.517+33260C>ASNV Uncertain significance 530936 rs143309484 11:63885451-63885451 11:64117979-64117979
26 FLRT1 NM_014067.4(MACROD1):c.517+33192T>CSNV Uncertain significance 530940 rs150249733 11:63885519-63885519 11:64118047-64118047
27 FLRT1 NM_014067.4(MACROD1):c.517+34934G>ASNV Uncertain significance 530938 rs139768227 11:63883777-63883777 11:64116305-64116305
28 FLRT1 NM_014067.4(MACROD1):c.517+34449C>TSNV Uncertain significance 530935 rs148012979 11:63884262-63884262 11:64116790-64116790
29 KCNJ10 NM_002241.5(KCNJ10):c.967T>C (p.Tyr323His)SNV Uncertain significance 816536 1:160011356-160011356 1:160041566-160041566
30 FLRT1 NM_014067.4(MACROD1):c.517+34721G>ASNV Uncertain significance 857225 11:63883990-63883990 11:64116518-64116518
31 FLRT1 NM_014067.4(MACROD1):c.517+34501G>TSNV Uncertain significance 842634 11:63884210-63884210 11:64116738-64116738
32 FLRT1 NM_014067.4(MACROD1):c.517+33995C>TSNV Uncertain significance 859555 11:63884716-63884716 11:64117244-64117244
33 FLRT1 NM_014067.4(MACROD1):c.517+33326G>ASNV Uncertain significance 835656 11:63885385-63885385 11:64117913-64117913
34 FLRT1 NM_014067.4(MACROD1):c.517+33197C>TSNV Uncertain significance 845837 11:63885514-63885514 11:64118042-64118042
35 FLRT1 NM_014067.4(MACROD1):c.517+33180C>TSNV Uncertain significance 840095 11:63885531-63885531 11:64118059-64118059
36 FLRT1 NM_014067.4(MACROD1):c.517+34761C>GSNV Uncertain significance 530933 rs777177875 11:63883950-63883950 11:64116478-64116478
37 FLRT1 NM_014067.4(MACROD1):c.517+33617C>TSNV Uncertain significance 530939 rs150825004 11:63885094-63885094 11:64117622-64117622
38 MYBPC3 NM_000256.3(MYBPC3):c.3614G>A (p.Arg1205Gln)SNV Uncertain significance 181014 rs730880596 11:47354130-47354130 11:47332579-47332579
39 KIF24 deletion Uncertain significance 243059 9:34280042-34296294 9:34280044-34296296
40 FLRT1 NM_014067.4(MACROD1):c.517+34535G>ASNV Uncertain significance 579757 rs756250929 11:63884176-63884176 11:64116704-64116704
41 FLRT1 NM_014067.4(MACROD1):c.517+34898_517+34918deldeletion Uncertain significance 571356 rs1565240655 11:63883793-63883813 11:64116321-64116341
42 FLRT1 NM_014067.4(MACROD1):c.517+34196G>ASNV Uncertain significance 566239 rs776773158 11:63884515-63884515 11:64117043-64117043
43 FLRT1 NM_014067.4(MACROD1):c.517+33881C>TSNV Uncertain significance 565723 rs767022154 11:63884830-63884830 11:64117358-64117358
44 FLRT1 NM_014067.4(MACROD1):c.517+33719C>TSNV Uncertain significance 568577 rs769032516 11:63884992-63884992 11:64117520-64117520
45 FLRT1 NM_014067.4(MACROD1):c.517+33604C>ASNV Uncertain significance 566560 rs1395376914 11:63885107-63885107 11:64117635-64117635
46 FLRT1 NM_014067.4(MACROD1):c.517+34250T>ASNV Uncertain significance 577882 rs1565241569 11:63884461-63884461 11:64116989-64116989
47 FLRT1 NM_014067.4(MACROD1):c.517+33243C>TSNV Uncertain significance 575806 rs140274429 11:63885468-63885468 11:64117996-64117996
48 FLRT1 NM_014067.4(MACROD1):c.517+34305T>CSNV Uncertain significance 643512 11:63884406-63884406 11:64116934-64116934
49 FLRT1 NM_014067.4(MACROD1):c.517+34236G>ASNV Uncertain significance 647420 11:63884475-63884475 11:64117003-64117003
50 FLRT1 NM_014067.4(MACROD1):c.517+33906T>GSNV Uncertain significance 640772 11:63884805-63884805 11:64117333-64117333

Expression for Rare Peripheral Neuropathy

Search GEO for disease gene expression data for Rare Peripheral Neuropathy.

Pathways for Rare Peripheral Neuropathy

Pathways related to Rare Peripheral Neuropathy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.87 IARS2 HARS1

GO Terms for Rare Peripheral Neuropathy

Biological processes related to Rare Peripheral Neuropathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 tRNA aminoacylation for protein translation GO:0006418 8.96 IARS2 HARS1
2 mitochondrial translation GO:0032543 8.62 IARS2 HARS1

Molecular functions related to Rare Peripheral Neuropathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ligase activity GO:0016874 8.96 IARS2 HARS1
2 aminoacyl-tRNA ligase activity GO:0004812 8.62 IARS2 HARS1

Sources for Rare Peripheral Neuropathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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