MCID: SNS003
MIFTS: 51

Sensory Peripheral Neuropathy

Categories: Neuronal diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Sensory Peripheral Neuropathy

MalaCards integrated aliases for Sensory Peripheral Neuropathy:

Name: Sensory Peripheral Neuropathy 11 14
Sensory Neuropathy 11 75 28 53 5 14 71
Hereditary Sensory and Autonomic Neuropathies 71
Peripheral Sensory Neuropathy 11

Classifications:



External Ids:

Disease Ontology 11 DOID:2491
ICD9CM 34 356.2
MeSH 43 D009477
NCIt 49 C3501
SNOMED-CT 68 193163001 95662005
UMLS 71 C0027889 C0151313 C0699739

Summaries for Sensory Peripheral Neuropathy

Disease Ontology: 11 A neuropathy that involves damage to nerves of the peripheral nervous system.

MalaCards based summary: Sensory Peripheral Neuropathy, also known as sensory neuropathy, is related to hereditary sensory and autonomic neuropathy type 1 and roussy-levy hereditary areflexic dystasia, and has symptoms including hyperesthesia, dysesthesia and sciatica. An important gene associated with Sensory Peripheral Neuropathy is GDAP1 (Ganglioside Induced Differentiation Associated Protein 1), and among its related pathways/superpathways are Guidance Cues and Growth Cone Motility and Neural crest differentiation. The drugs Lidocaine and Gabapentin have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, brain and breast, and related phenotypes are Increased gamma-H2AX phosphorylation and nervous system

Wikipedia: 75 Peripheral neuropathy, often shortened to neuropathy, is a general term describing disease affecting the... more...

Related Diseases for Sensory Peripheral Neuropathy

Diseases related to Sensory Peripheral Neuropathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 741)
# Related Disease Score Top Affiliating Genes
1 hereditary sensory and autonomic neuropathy type 1 33.1 SPTLC3 SPTLC1 SCN11A MFN2
2 roussy-levy hereditary areflexic dystasia 32.8 PMP22 MPZ
3 neuropathy, hereditary motor and sensory, russe type 32.8 MTMR2 GDAP1
4 neuropathy, hereditary sensory and autonomic, type iia 32.6 SPTLC1 SLC12A6 NGF MFN2 LITAF GDAP1
5 hereditary motor and sensory neuropathy, type iic 32.6 MTMR2 MPZ MFN2 GJB1 GDAP1
6 charcot-marie-tooth disease, axonal, type 2a1 32.5 MPZ MFN2 GDAP1
7 charcot-marie-tooth disease type 1g 32.5 PMP22 MPZ LITAF GJB1
8 neuropathy, hereditary sensory and autonomic, type ia 32.5 SPTLC3 SPTLC1
9 motor peripheral neuropathy 32.4 SLC12A6 PMP22 MFN2 MAG
10 charcot-marie-tooth disease, demyelinating, type 1b 32.4 PRX PMP22 MTMR2 MPZ MFN2 LITAF
11 charcot-marie-tooth disease, type 4d 32.4 MTMR2 MPZ LITAF GJB1 GDAP1 EGR2
12 neuropathy, hereditary sensory and autonomic, type ic 32.4 SPTLC3 SPTLC1 MPZ LITAF GJB1
13 charcot-marie-tooth disease, axonal, type 2b 32.3 SPTLC1 MTMR2 MPZ MFN2 LITAF GJB1
14 charcot-marie-tooth disease, x-linked dominant, 1 32.3 SPTLC1 PMP22 MTMR2 MPZ MFN2 LITAF
15 hypertrophic neuropathy of dejerine-sottas 32.3 PRX PMP22 MTMR2 MPZ MFN2 MAG
16 charcot-marie-tooth disease type 2a2a 32.2 MFN2 GDAP1
17 charcot-marie-tooth disease, demyelinating, type 1c 32.2 PRX PMP22 MTMR2 MPZ LITAF GJB1
18 neuropathy, congenital hypomyelinating, 1, autosomal recessive 32.1 SLC12A6 PRX PMP22 NTF3 MTMR2 MPZ
19 charcot-marie-tooth disease, dominant intermediate d 32.1 MPZ MFN2 GJB1
20 charcot-marie-tooth disease, dominant intermediate f 32.1 MPZ GDAP1
21 charcot-marie-tooth disease, axonal, type 2b2 32.1 MPZ MFN2 GDAP1
22 charcot-marie-tooth disease, dominant intermediate c 32.1 MPZ GJB1 GDAP1
23 charcot-marie-tooth disease, dominant intermediate b 32.1 MTMR2 MPZ LITAF GJB1 GDAP1
24 charcot-marie-tooth disease intermediate type 32.1 MTMR2 MPZ MFN2 GJB1 GDAP1
25 charcot-marie-tooth disease, axonal, type 2p 32.1 MPZ LITAF GDAP1
26 charcot-marie-tooth disease, demyelinating, type 1f 32.1 PMP22 MTMR2 MPZ LITAF GJB1
27 charcot-marie-tooth disease, axonal, type 2d 32.1 MPZ MFN2 GJB1 GDAP1
28 charcot-marie-tooth disease, demyelinating, type 1d 32.1 PRX PMP22 MTMR2 MPZ LITAF GJB1
29 charcot-marie-tooth disease, axonal, type 2e 32.1 SPTLC1 PRX PMP22 NTF3 NGF MTMR2
30 charcot-marie-tooth disease, dominant intermediate e 32.0 MPZ GDAP1
31 charcot-marie-tooth disease dominant intermediate a 32.0 PRX MPZ GJB1 GDAP1
32 charcot-marie-tooth disease type 2a2b 32.0 MTMR2 MPZ MFN2 GDAP1
33 hereditary neuropathies 32.0 PRX PMP22 MTMR2 MPZ MFN2 MAG
34 neuropathy, hereditary sensory and autonomic, type vii 31.9 SPTLC1 SCN11A
35 charcot-marie-tooth disease, type 4b1 31.9 PRX MTMR2 MPZ LITAF GDAP1
36 charcot-marie-tooth disease, demyelinating, type 1a 31.9 SPTLC1 PRX PMP22 NTF3 MTMR2 MPZ
37 neuropathy, hereditary sensory and autonomic, type viii 31.9 SPTLC1 SCN11A
38 charcot-marie-tooth disease, x-linked recessive, 2 31.9 MPZ LITAF GJB1 EGR2
39 neuropathy, hereditary, with liability to pressure palsies 31.9 PRX PMP22 MTMR2 MPZ MFN2 MAG
40 charcot-marie-tooth disease and deafness 31.8 SPTLC1 PRX PMP22 NTF3 MTMR2 MPZ
41 charcot-marie-tooth disease 31.7 SPTLC1 SLC12A6 PRX PMP22 NTF3 NGF
42 charcot-marie-tooth disease, type 4b2 31.6 PRX MTMR2 MPZ MFN2 LITAF GJB1
43 charcot-marie-tooth disease, type 4a 31.6 PRX MTMR2 MPZ MFN2 LITAF GJB1
44 amyotrophic lateral sclerosis 1 31.6 SPTLC1 NTF3 NGF MFN2 MAG ELAVL4
45 charcot-marie-tooth disease, axonal, type 2n 31.0 MPZ MFN2 GDAP1
46 tooth disease 31.0 PRX PMP22 MTMR2 MPZ MFN2 LITAF
47 demyelinating polyneuropathy 30.8 PMP22 MPZ MAG GJB1 EGR2
48 charcot-marie-tooth disease, axonal, type 2l 30.8 MPZ MFN2 GDAP1
49 chronic inflammatory demyelinating polyradiculoneuropathy 30.8 PMP22 MPZ MAG
50 charcot-marie-tooth disease, type 4c 30.8 MTMR2 MPZ MFN2 LITAF GJB1 GDAP1

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



Diseases related to Sensory Peripheral Neuropathy

Symptoms & Phenotypes for Sensory Peripheral Neuropathy

UMLS symptoms related to Sensory Peripheral Neuropathy:


hyperesthesia; dysesthesia; sciatica; neurologic symptoms

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.17 CCT4 EGR2 ELAVL3 ELAVL4 FLVCR1 GDAP1
2 no effect GR00402-S-2 10.17 EGR2 ELAVL3 ELAVL4 FLVCR1 GDAP1 LITAF
3 Increased gamma-H2AX phosphorylation GR00053-A 9.56 CCT4 EGR2 ELAVL4 GJB1 MAG MPZ

MGI Mouse Phenotypes related to Sensory Peripheral Neuropathy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.09 EGR2 ELAVL3 ELAVL4 GDAP1 GJB1 LITAF
2 behavior/neurological MP:0005386 9.89 EGR2 ELAVL3 ELAVL4 GDAP1 GJB1 LITAF
3 reproductive system MP:0005389 9.36 EGR2 ELAVL4 FLVCR1 GDAP1 MFN2 MPZ

Drugs & Therapeutics for Sensory Peripheral Neuropathy

Drugs for Sensory Peripheral Neuropathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 44)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
2
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
3 Anti-Arrhythmia Agents Phase 4
4 Sodium Channel Blockers Phase 4
5 Anti-Anxiety Agents Phase 4
6 Psychotropic Drugs Phase 4
7 Excitatory Amino Acid Antagonists Phase 4
8 Anesthetics, Local Phase 4
9 Anticonvulsants Phase 4
10 Anesthetics Phase 4
11 Analgesics Phase 4
12 Diuretics, Potassium Sparing Phase 4
13
Acetylcarnitine Approved, Investigational Phase 3 3040-38-8
14
Hydroxocobalamin Approved Phase 3 13422-51-0 15589840 44475014
15
Oxaliplatin Approved, Investigational Phase 3 61825-94-3 43805 11947679 6857599
16
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
17
Cyanocobalamin Approved, Nutraceutical Phase 3 68-19-9 24892734 16212801 44176380
18
Thiamine Approved, Investigational, Nutraceutical, Vet_approved Phase 3 70-16-6 1130
19
(3-Carboxy-2-(R)-Hydroxy-Propyl)-Trimethyl-Ammonium Experimental Phase 3 461-06-3
20
Cobalamin Experimental Phase 3 13408-78-1 6857388
21
Xaliproden Investigational Phase 3 135354-02-8
22 Nootropic Agents Phase 3
23 Folate Phase 3
24 Vitamins Phase 3
25 Vitamin B9 Phase 3
26 Trace Elements Phase 3
27 Vitamin B12 Phase 3
28 Vitamin B1 Phase 3
29 Vitamin B Complex Phase 3
30 Vitamin B 12 Phase 3
31 Thiamin Phase 3
32 Micronutrients Phase 3
33 Neurotransmitter Agents Phase 3
34 Cola Phase 3
35 Serotonin Receptor Agonists Phase 3
36 Serotonin 5-HT1 Receptor Agonists Phase 3
37
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202
38
Topiramate Approved Phase 2 97240-79-4 5284627
39 Mitogens Phase 2
40 Hypoglycemic Agents Phase 2
41
Serine Investigational, Nutraceutical Phase 1, Phase 2 56-45-1 5951
42 Immunoglobulins
43 Antibodies
44 Taxane 108169

Interventional clinical trials:

(show all 28)
# Name Status NCT ID Phase Drugs
1 A Multicenter, Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Study Of Lidocaine Patch 5% Alone, Gabapentin Alone, And Lidocaine Patch 5% And Gabapentin In Combination For The Relief Of Pain In Patients With Diverse Peripheral Neuropathic Pain Conditions Completed NCT00904202 Phase 4 Placebo Capsules + Placebo Patch;Placebo capsules + Lidoderm®;Gabapentin + Placebo;Gabapentin + Lidoderm®;Gabapentin 300 mg capsules 1800 mg/day + placebo patch;Gabapentin 1800 mg/day + Lidoderm patch
2 A Randomized, Double Blind, Placebo Controlled Prospective Study to Evaluate the Effectiveness of Monochromatic Infrared Photo Energy to Improve Diabetic Sensory Neuropathy Completed NCT00120341 Phase 4
3 Phase III Study of Acetyl-L-Carnitine (ALC) Hydrochloride Enteric-coated Tablets in Treatment of Peripheral Sensory Neuropathy in Anti-cancer Chemotherapeutics Induce Completed NCT01526564 Phase 3 Acetylcarnitine;Placebo
4 A Prospective, Multicenter, Randomized, Double Blind, Placebo-controlled Parallel Group Clinical Trial to Evaluate the Efficacy and Safety of the Product Vitamins B1 (100mg), B6 (100 mg), Plus B12 (5 mg) in Tablets in Subjects With Clinically Diagnosed PerIpheral Sensory polyNeuropathy of Different etiologieS (PINS Study) Recruiting NCT05619328 Phase 3 Vitamin B combination tablet;Placebo Tablet
5 A Multi-center, Randomized, Double Blind, Placebo Controlled Phase III Study to Assess the Efficacy of Xaliproden in Patients With Oxaliplatin-induced Peripheral Sensory Neuropathy (PSN) Following Adjuvant Chemotherapy for Colon Cancer Terminated NCT00603577 Phase 3 Placebo;Xaliproden
6 A Phase II, Double-Blind Trial of Recombinant Human Nerve Growth Factor for Treatment of HIV-Associated Sensory Neuropathy Completed NCT00000842 Phase 2 Nerve Growth Factor, Recombinant Human
7 A Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy of L-Serine in Subjects With Hereditary Sensory Neuropathy Type 1 Completed NCT01733407 Phase 1, Phase 2 L-serine;placebo
8 Topiramate as a Disease Modifying Therapy for Cryptogenic Sensory Peripheral Neuropathy in Metabolic Syndrome (CSPN) Completed NCT02878798 Phase 2 topiramate
9 A Randomized, Multi-center Pilot Study to Evaluate the Efficacy and Safety of Epoetin Alfa (Procrit) in the Treatment of HIV-associated Sensory Neuropathy Withdrawn NCT00528593 Phase 2 epoetin alfa
10 A Phase II, Randomized, Double Blind, Cross-over, Placebo-controlled Study on Norepinephrine Replenishment Therapy Using L-DOPS in Congenital Insensitivity to Pain With Anhidrosis Patients Withdrawn NCT02624310 Phase 2 Droxidopa (L-DOPS);Placebo
11 Painful Channelopathies Study Unknown status NCT02696746
12 Acupuncture for Chemotherapy-Induced Peripheral Neuropathy Among Breast Cancer Patients Completed NCT03505671
13 Clinical Phenotyping and Genotyping of HIV-Associated Sensory Neuropathy: The HIV-POGO Study Completed NCT02555930
14 Robot-aided Proprioceptive Rehabilitation Training With Additional Vibro-tactile Feedback Completed NCT02565407
15 Evaluation of Pressure Distribution of Kyboot Shoes in Comparison to Other Foot Wear in Diabetic Patients and in Healthy Subjects Completed NCT02451722
16 Disability Severity Scale (DSI) and Hereditary Motor and Sensory Neuropathy Overall Disability Scale (HMSN-R-ODS) Completed NCT02194010
17 walk2Wellness: Long-term Use Effects of Walkasins® Wearable Sensory Prosthesis on Gait Function, Balance-Confidence, and Social Participation Completed NCT03538756
18 Proprioception and Sensorimotor Control in Hereditary Sensory and Autonomic Neuropathy Completed NCT02876939
19 multiSENSory Stimulation to tArgeT Sensory Loss and chronIc Pain in neurOpathic patieNts Recruiting NCT05483816
20 Characterization of Sensory Neuropathies Associated With Anti-FGFR3 Antibodies Recruiting NCT02539329
21 Natural History of Familial Dysautonomia Recruiting NCT03920774
22 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
23 Cryotherapy to Prevent Taxane-Induced Sensory Neuropathy of the Hands and Feet Active, not recruiting NCT04256512
24 Diabetic Neuropathy Screening Study 1.1 + Substudy 1.2-1.3-1.4 Enrolling by invitation NCT05043636
25 Developing and Testing Instrument to Measure Physical Activity in Charcot-Marie-Tooth: a Pilot Project Enrolling by invitation NCT04461613
26 A Natural History Study of Charcot-Marie-Tooth 4J (CMT4J) Terminated NCT03810508
27 A Randomised, Double-blinded, Placebo Controlled Study to Assess the Efficacy and Safety of PerOx Quench or Placebo for 35 Days on the Prevention of Oxaliplatin Treatment Induced Sensory Neuropathy Terminated NCT02560740
28 Pilot Study of Effects of Tai Chi Easy on Cancer Survivors Experiencing Neuropathy Withdrawn NCT01980368

Search NIH Clinical Center for Sensory Peripheral Neuropathy

Genetic Tests for Sensory Peripheral Neuropathy

Genetic tests related to Sensory Peripheral Neuropathy:

# Genetic test Affiliating Genes
1 Sensory Neuropathy 28

Anatomical Context for Sensory Peripheral Neuropathy

Organs/tissues related to Sensory Peripheral Neuropathy:

MalaCards : Spinal Cord, Brain, Breast, Colon, Dorsal Root Ganglion, Lung, Bone Marrow

Publications for Sensory Peripheral Neuropathy

Articles related to Sensory Peripheral Neuropathy:

(show top 50) (show all 4497)
# Title Authors PMID Year
1
Whole-genome sequencing of patients with rare diseases in a national health system. 5
32581362 2020
2
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. 5
26257172 2015
3
Atypical, perhaps under-recognized? An unusual phenotype of Friedreich ataxia. 53 62
20162437 2010
4
Six new gap junction beta 1 gene mutations and their phenotypic expression in Czech patients with Charcot-Marie-Tooth disease. 53 62
20039784 2010
5
Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations. 53 62
20008656 2009
6
Hereditary motor and sensory neuropathy caused by a novel mutation in LITAF. 53 62
19541485 2009
7
Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation. 53 62
19651702 2009
8
[Hereditary peripheral neuropathies]. 53 62
19327944 2009
9
Andermann syndrome can be a phenocopy of hereditary motor and sensory neuropathy--report of a discordant sibship with a compound heterozygous mutation of the KCC3 gene. 53 62
20020398 2009
10
Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders. 53 62
19268652 2009
11
[Polyneuropathy associated with monoclonal gammapathy: treatment perspectives]. 53 62
20120390 2009
12
Mutated mitofusin 2 presents with intrafamilial variability and brain mitochondrial dysfunction. 53 62
18946002 2008
13
Histopathological findings in hereditary motor and sensory neuropathy of axonal type with onset in early childhood associated with mitofusin 2 mutations. 53 62
18957892 2008
14
Hereditary motor and sensory neuropathy Lom type in a Serbian family. 53 62
19364063 2008
15
[Spectrum and frequency of mutations in the connexin 32 gene (GJB1) in hereditary and sensory neuropathy type 1X patients from Bashkortostan]. 53 62
19062535 2008
16
Aldose reductase, still a compelling target for diabetic neuropathy. 53 62
18220710 2008
17
K-Cl cotransport in red blood cells from patients with KCC3 isoform mutants. 53 62
17215889 2006
18
Myelin protein zero mutation His39Pro: hereditary motor and sensory neuropathy with variable onset, hearing loss, restless legs and multiple sclerosis. 53 62
16844954 2006
19
Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations. 53 62
16835246 2006
20
Mutation in the epsilon subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct5) gene causes autosomal recessive mutilating sensory neuropathy with spastic paraplegia. 53 62
16399879 2006
21
Clinical, pathological and genetic characterization of hereditary sensory and autonomic neuropathy type 1 (HSAN I). 53 62
16364956 2006
22
Impairment of Trk-neurotrophin receptor by the serum of a patient with subacute sensory neuropathy. 53 62
16216947 2005
23
Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease. 53 62
16172208 2005
24
Analyses of the differentiation potential of satellite cells from myoD-/-, mdx, and PMP22 C22 mice. 53 62
15762989 2005
25
Effects of polyol pathway hyperactivity on protein kinase C activity, nociceptive peptide expression, and neuronal structure in dorsal root ganglia in diabetic mice. 53 62
15561956 2004
26
Clinical and electrophysiological studies of a family with probable X-linked dominant Charcot-Marie-Tooth neuropathy and ptosis. 53 62
15508871 2004
27
Genetic evaluation of inherited motor/sensory neuropathy. 53 62
16106622 2004
28
Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene. 53 62
12821518 2003
29
Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease. 53 62
12872253 2003
30
Regulation of myotubularin-related (MTMR)2 phosphatidylinositol phosphatase by MTMR5, a catalytically inactive phosphatase. 53 62
12668758 2003
31
Regeneration of primary sensory neurons. 53 62
12595748 2003
32
A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPP. 53 62
12634865 2003
33
Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease. 53 62
11571214 2001
34
Molecular basis of hereditary neuropathies. 53 62
11345007 2001
35
Phe 84 deletion of the PMP22 gene associated with hereditary motor and sensory neuropathy HMSN III with multiple cranial neuropathy: clinical, neurophysiological and magnetic resonance imaging findings. 53 62
11355152 2001
36
[Molecular genetics of hereditary neuropathies]. 53 62
11299480 2001
37
Steroid responsive polyneuropathy in a family with a novel myelin protein zero mutation. 53 62
11080236 2000
38
Inherited neuropathies: from gene to disease. 53 62
10219749 1999
39
Inherited peripheral neuropathy. 53 62
10716658 1999
40
Biological actions of nerve growth factor in the peripheral nervous system. 53 62
10023124 1999
41
PMP-22 gene duplications and deletions identified in archival, paraffin-embedded sural nerve biopsy specimens: correlation to structural changes. 53 62
9678509 1998
42
The first de novo mutation of the connexin 32 gene associated with X linked Charcot-Marie-Tooth disease. 53 62
9541114 1998
43
Expression of HuD (a paraneoplastic encephalomyelitis antigen) mRNA in lung cancer. 53 62
9288629 1997
44
Charcot-Marie-Tooth disease and related peripheral neuropathies. 53 62
10975746 1997
45
Two divergent types of nerve pathology in patients with different P0 mutations in Charcot-Marie-Tooth disease. 53 62
8797476 1996
46
Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing. 53 62
8817346 1996
47
Neurotrophic factors in the therapy of peripheral neuropathy. 53 62
8599726 1995
48
[A case of hereditary motor and sensory neuropathy type I with a new type of peripheral myelin protein (PMP)-22 mutation]. 53 62
8777804 1995
49
Structure and function of peripheral nerve myelin proteins. 53 62
7568893 1995
50
Molecular analysis of the HuD gene encoding a paraneoplastic encephalomyelitis antigen in human lung cancer cell lines. 53 62
8069866 1994

Variations for Sensory Peripheral Neuropathy

ClinVar genetic disease variations for Sensory Peripheral Neuropathy:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GDAP1 NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe) SNV Pathogenic
4200 rs104894080 GRCh37: 8:75276240-75276240
GRCh38: 8:74364005-74364005
2 MPZ NM_000530.8(MPZ):c.293G>A (p.Arg98His) SNV Likely Pathogenic
14176 rs121913589 GRCh37: 1:161276653-161276653
GRCh38: 1:161306863-161306863
3 SCN11A NM_001349253.2(SCN11A):c.4628G>A (p.Cys1543Tyr) SNV Likely Pathogenic
701958 rs151155193 GRCh37: 3:38888933-38888933
GRCh38: 3:38847442-38847442
4 SPTLC3 NM_018327.4(SPTLC3):c.448T>C (p.Trp150Arg) SNV Likely Pathogenic
243088 rs755919784 GRCh37: 20:13053048-13053048
GRCh38: 20:13072400-13072400
5 GJB1 NM_000166.6(GJB1):c.502T>G (p.Cys168Gly) SNV Likely Pathogenic
373934 rs1057518780 GRCh37: X:70444059-70444059
GRCh38: X:71224209-71224209
6 FLVCR1 NM_014053.4(FLVCR1):c.323T>C (p.Phe108Ser) SNV Uncertain Significance
1679383 GRCh37: 1:213032117-213032117
GRCh38: 1:212858775-212858775
7 POMT1 NM_001077365.2(POMT1):c.1793G>A (p.Arg598Gln) SNV Uncertain Significance
373970 rs202140413 GRCh37: 9:134396827-134396827
GRCh38: 9:131521440-131521440
8 SLC12A1 NM_000338.3(SLC12A1):c.2255C>T (p.Ala752Val) SNV Uncertain Significance
316268 rs137893258 GRCh37: 15:48559858-48559858
GRCh38: 15:48267661-48267661
9 MED25 NM_030973.4(MED25):c.1778_1779del (p.Gln593fs) DEL Uncertain Significance
409952 rs763039409 GRCh37: 19:50339015-50339016
GRCh38: 19:49835758-49835759
10 AP1B1 NM_001127.4(AP1B1):c.637G>A (p.Glu213Lys) SNV Uncertain Significance
598986 rs1569159579 GRCh37: 22:29752494-29752494
GRCh38: 22:29356505-29356505

Expression for Sensory Peripheral Neuropathy

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

Pathways for Sensory Peripheral Neuropathy

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

# Super pathways Score Top Affiliating Genes
1 11.57 NGF MAG GDAP1
2 11.44 PMP22 MPZ GJB1
3 10.8 PRX PMP22 MPZ MAG EGR2
4 10.6 PMP22 MTMR2 MPZ MFN2 LITAF GDAP1
5
Show member pathways
10.3 SPTLC3 SPTLC1

GO Terms for Sensory Peripheral Neuropathy

Cellular components related to Sensory Peripheral Neuropathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016021 10.37 FLVCR1 GDAP1 GJB1 LITAF MAG MFN2
2 membrane GO:0016020 10.37 FLVCR1 GDAP1 GJB1 LITAF MAG MFN2
3 serine C-palmitoyltransferase complex GO:0017059 9.46 SPTLC3 SPTLC1
4 axon GO:0030424 9.4 SLC12A6 SCN11A NTF3 NGF MTMR2 ELAVL4
5 compact myelin GO:0043218 9.26 PMP22 MAG

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

# Name GO ID Score Top Affiliating Genes
1 nerve growth factor signaling pathway GO:0038180 9.56 NTF3 NGF
2 peripheral nervous system development GO:0007422 9.56 PMP22 NTF3 NGF EGR2
3 myelin assembly GO:0032288 9.46 PMP22 MTMR2
4 myelination GO:0042552 9.17 PMP22 MTMR2 MPZ MAG EGR2

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

# Name GO ID Score Top Affiliating Genes
1 nerve growth factor receptor binding GO:0005163 9.26 NTF3 NGF
2 serine C-palmitoyltransferase activity GO:0004758 8.92 SPTLC3 SPTLC1

Sources for Sensory Peripheral Neuropathy

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....