MCID: RRP027
MIFTS: 19

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 neuropathy and peripheral nervous system disease. An important gene associated with Rare Peripheral Neuropathy is IARS2 (Isoleucyl-TRNA Synthetase 2, Mitochondrial). Related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased 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 16)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.86 IARS2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.86 IARS2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.86 IARS2 NEFL
4 Increased shRNA abundance (Z-score > 2) GR00366-A-13 9.86 NEFL
5 Increased shRNA abundance (Z-score > 2) GR00366-A-140 9.86 NEFL
6 Increased shRNA abundance (Z-score > 2) GR00366-A-143 9.86 IARS2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.86 NEFL
8 Increased shRNA abundance (Z-score > 2) GR00366-A-178 9.86 NEFL
9 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.86 NEFL
10 Increased shRNA abundance (Z-score > 2) GR00366-A-211 9.86 IARS2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.86 IARS2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-30 9.86 NEFL
13 Increased shRNA abundance (Z-score > 2) GR00366-A-5 9.86 NEFL
14 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.86 IARS2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.86 IARS2
16 Synthetic lethal with Ras GR00018-A-0 8.8 IARS2 NEFL NGLY1

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 58) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 46;XX;inv(7)(q11.23q36.3)dninversion Pathogenic 267882
2 IARS2 NM_018060.4(IARS2):c.2726C>T (p.Pro909Leu)SNV Pathogenic 156553 rs587783070 1:220316451-220316451 1:220143109-220143109
3 NGLY1 NM_018297.4(NGLY1):c.1533_1536del (p.Asn511fs)deletion Pathogenic 548658 rs765211108 3:25770699-25770702 3:25729208-25729211
4 NEFL NM_006158.4(NEFL):c.64C>T (p.Pro22Ser)SNV Pathogenic/Likely pathogenic 14029 rs28928910 8:24813966-24813966 8:24956452-24956452
5 PMP2 NM_002677.5(PMP2):c.128T>A (p.Ile43Asn)SNV Likely pathogenic 243087 rs879253869 8:82357170-82357170 8:81444935-81444935
6 DNAJB5 NM_001135005.3(DNAJB5):c.43C>T (p.Pro15Ser)SNV Likely pathogenic 243086 rs774909609 9:34990670-34990670 9:34990673-34990673
7 SPTLC3 NM_018327.4(SPTLC3):c.448T>C (p.Trp150Arg)SNV Likely pathogenic 243088 rs755919784 20:13053048-13053048 20:13072400-13072400
8 CHRNG NM_005199.5(CHRNG):c.256C>T (p.Arg86Cys)SNV Likely pathogenic 397615 rs777219451 2:233405327-233405327 2:232540617-232540617
9 COX6A1 NM_004373.4(COX6A1):c.103+1G>CSNV Likely pathogenic 560368 rs377504835 12:120876033-120876033 12:120438230-120438230
10 LMNA NM_170707.4(LMNA):c.1634G>A (p.Arg545His)SNV Conflicting interpretations of pathogenicity 163878 rs142191737 1:156107470-156107470 1:156137679-156137679
11 NEB NM_001271208.2(NEB):c.21902C>T (p.Pro7301Leu)SNV Conflicting interpretations of pathogenicity 387835 rs367626762 2:152384038-152384038 2:151527524-151527524
12 NEB NM_001271208.2(NEB):c.16637G>A (p.Arg5546His)SNV Conflicting interpretations of pathogenicity 257765 rs201111610 2:152435919-152435919 2:151579405-151579405
13 ABCA4 NM_000350.3(ABCA4):c.203C>T (p.Pro68Leu)SNV Conflicting interpretations of pathogenicity 99113 rs62654397 1:94577093-94577093 1:94111537-94111537
14 DNM2 NM_001005360.2(DNM2):c.190G>A (p.Val64Ile)SNV Conflicting interpretations of pathogenicity 133978 rs144250390 19:10870442-10870442 19:10759766-10759766
15 LMNA NM_170707.4(LMNA):c.344A>T (p.Glu115Val)SNV Conflicting interpretations of pathogenicity 200932 rs794728588 1:156085053-156085053 1:156115262-156115262
16 SPTAN1 NM_001130438.3(SPTAN1):c.4039G>A (p.Asp1347Asn)SNV Conflicting interpretations of pathogenicity 207286 rs574740801 9:131367749-131367749 9:128605470-128605470
17 MEFV NM_000243.2(MEFV):c.2084A>G (p.Lys695Arg)SNV Conflicting interpretations of pathogenicity 2547 rs104895094 16:3293403-3293403 16:3243403-3243403
18 ABCA4 NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)SNV Conflicting interpretations of pathogenicity 7879 rs76157638 1:94517254-94517254 1:94051698-94051698
19 KIF24 deletion Uncertain significance 243059 9:34280042-34296294 9:34280044-34296296
20 DYSF NM_001130987.2(DYSF):c.1449G>A (p.Met483Ile)SNV Uncertain significance 288879 rs146064054 2:71762219-71762219 2:71535089-71535089
21 MT-ND4 NC_012920.1:m.11896C>GSNV Uncertain significance 370054 rs1057516065 MT:11896-11896 MT:11896-11896
22 MYH14 NM_001145809.2(MYH14):c.1945+6G>ASNV Uncertain significance 374064 rs1057518869 19:50756016-50756016 19:50252759-50252759
23 KIFBP NM_015634.4(KIFBP):c.167_187dup (p.Asp56_Glu62dup)duplication Uncertain significance 397616 rs767103634 10:70748746-70748747 10:68988990-68988991
24 SBF2 NM_030962.3(SBF2):c.5014_5016del (p.Lys1672del)deletion Uncertain significance 397621 rs750958357 11:9809202-9809204 11:9787655-9787657
25 MKS1 NM_001165927.1(MKS1):c.1577G>A (p.Arg526Gln)SNV Uncertain significance 397617 rs746283445 17:56283513-56283513 17:58206152-58206152
26 PRX NM_020956.2(PRX):c.*2540G>ASNV Uncertain significance 397620 rs369505684 19:40901924-40901924 19:40396017-40396017
27 PNPLA6 NM_006702.5(PNPLA6):c.1088C>T (p.Ser363Leu)SNV Uncertain significance 397619 rs372193709 19:7606906-7606906 19:7542020-7542020
28 PHKA1 NM_002637.4(PHKA1):c.1272T>A (p.Asp424Glu)SNV Uncertain significance 397618 rs1060499719 X:71870292-71870292 X:72650442-72650442
29 FLRT1 NM_014067.4(MACROD1):c.517+34934G>CSNV Uncertain significance 461801 rs139768227 11:63883777-63883777 11:64116305-64116305
30 FLRT1 NM_014067.4(MACROD1):c.517+34743C>TSNV Uncertain significance 530937 rs770193280 11:63883968-63883968 11:64116496-64116496
31 FLRT1 NM_014067.4(MACROD1):c.517+33591C>TSNV Uncertain significance 530934 rs138289564 11:63885120-63885120 11:64117648-64117648
32 FLRT1 NM_014067.4(MACROD1):c.517+33852C>GSNV Uncertain significance 530941 rs138445479 11:63884859-63884859 11:64117387-64117387
33 FLRT1 NM_014067.4(MACROD1):c.517+33260C>ASNV Uncertain significance 530936 rs143309484 11:63885451-63885451 11:64117979-64117979
34 FLRT1 NM_014067.4(MACROD1):c.517+33192T>CSNV Uncertain significance 530940 rs150249733 11:63885519-63885519 11:64118047-64118047
35 FLRT1 NM_014067.4(MACROD1):c.517+34934G>ASNV Uncertain significance 530938 rs139768227 11:63883777-63883777 11:64116305-64116305
36 FLRT1 NM_014067.4(MACROD1):c.517+34449C>TSNV Uncertain significance 530935 rs148012979 11:63884262-63884262 11:64116790-64116790
37 MYBPC3 NM_000256.3(MYBPC3):c.3614G>A (p.Arg1205Gln)SNV Uncertain significance 181014 rs730880596 11:47354130-47354130 11:47332579-47332579
38 FLRT1 NM_014067.4(MACROD1):c.517+33243C>GSNV Uncertain significance 461796 rs140274429 11:63885468-63885468 11:64117996-64117996
39 FLRT1 NM_014067.4(MACROD1):c.517+34761C>GSNV Uncertain significance 530933 rs777177875 11:63883950-63883950 11:64116478-64116478
40 FLRT1 NM_014067.4(MACROD1):c.517+33617C>TSNV Uncertain significance 530939 rs150825004 11:63885094-63885094 11:64117622-64117622
41 FLRT1 NM_014067.4(MACROD1):c.517+34535G>ASNV Uncertain significance 579757 rs756250929 11:63884176-63884176 11:64116704-64116704
42 FLRT1 NM_014067.4(MACROD1):c.517+34898_517+34918deldeletion Uncertain significance 571356 rs1565240655 11:63883793-63883813 11:64116321-64116341
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+34196G>ASNV Uncertain significance 566239 rs776773158 11:63884515-63884515 11:64117043-64117043
45 FLRT1 NM_014067.4(MACROD1):c.517+33719C>TSNV Uncertain significance 568577 rs769032516 11:63884992-63884992 11:64117520-64117520
46 FLRT1 NM_014067.4(MACROD1):c.517+33604C>ASNV Uncertain significance 566560 rs1395376914 11:63885107-63885107 11:64117635-64117635
47 FLRT1 NM_014067.4(MACROD1):c.517+34250T>ASNV Uncertain significance 577882 rs1565241569 11:63884461-63884461 11:64116989-64116989
48 FLRT1 NM_014067.4(MACROD1):c.517+33243C>TSNV Uncertain significance 575806 rs140274429 11:63885468-63885468 11:64117996-64117996
49 FLRT1 NM_014067.4(MACROD1):c.517+34305T>CSNV Uncertain significance 643512 11:63884406-63884406 11:64116934-64116934
50 FLRT1 NM_014067.4(MACROD1):c.517+34236G>ASNV Uncertain significance 647420 11:63884475-63884475 11:64117003-64117003

Expression for Rare Peripheral Neuropathy

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

Pathways for Rare Peripheral Neuropathy

GO Terms for Rare Peripheral Neuropathy

Sources for Rare Peripheral Neuropathy

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