MCID: SNS003
MIFTS: 51

Sensory Peripheral Neuropathy

Categories: Neuronal diseases

Aliases & Classifications for Sensory Peripheral Neuropathy

MalaCards integrated aliases for Sensory Peripheral Neuropathy:

Name: Sensory Peripheral Neuropathy 12 15
Sensory Neuropathy 12 73 29 54 6 15 70
Hereditary Sensory and Autonomic Neuropathies 70
Peripheral Sensory Neuropathy 12

Classifications:



External Ids:

Disease Ontology 12 DOID:2491
ICD9CM 34 356.2
MeSH 44 D009477
NCIt 50 C3501
SNOMED-CT 67 193163001 95662005
UMLS 70 C0027889 C0151313 C0699739

Summaries for Sensory Peripheral Neuropathy

Disease Ontology : 12 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 neuropathy, hereditary motor and sensory, russe type, 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 Analgesics and Acetylcarnitine have been mentioned in the context of this disorder. Affiliated tissues include breast, lung and skin, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Wikipedia : 73 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 631)
# Related Disease Score Top Affiliating Genes
1 hereditary sensory and autonomic neuropathy type 1 32.8 SPTLC3 SPTLC1 LITAF
2 neuropathy, hereditary motor and sensory, russe type 32.7 GDAP1 EGR2
3 neuropathy, hereditary sensory and autonomic, type v 32.7 SPTLC1 SCN11A NGF
4 hereditary motor and sensory neuropathy, type iic 32.6 MPZ MFN2 GJB1 GDAP1
5 neuropathy, hereditary sensory and autonomic, type ia 32.5 SPTLC3 SPTLC1
6 charcot-marie-tooth disease, axonal, type 2a1 32.5 MPZ MFN2 GDAP1
7 neuropathy, hereditary sensory and autonomic, type iia 32.4 SPTLC1 SLC12A6 NGF LITAF GDAP1 FGD4
8 neuropathy, hereditary sensory and autonomic, type ic 32.4 SPTLC3 SPTLC1 LITAF
9 roussy-levy hereditary areflexic dystasia 32.3 PMP22 MPZ
10 charcot-marie-tooth disease/hereditary motor and sensory neuropathy 32.2 MFN2 LITAF
11 charcot-marie-tooth disease, axonal, type 2b 32.1 SPTLC1 MTMR2 MPZ MFN2 LITAF GJB1
12 charcot-marie-tooth disease, axonal, type 2b2 32.0 MPZ MFN2 GDAP1
13 charcot-marie-tooth disease, demyelinating, type 1b 32.0 PRX PMP22 MTMR2 MPZ MFN2 LITAF
14 charcot-marie-tooth disease, type 4d 32.0 PRX MTMR2 MPZ LITAF GJB1 GDAP1
15 charcot-marie-tooth disease, axonal, type 2b1 31.9 MFN2 GDAP1
16 charcot-marie-tooth disease, demyelinating, type 1d 31.9 PRX PMP22 MTMR2 MPZ LITAF GJB1
17 hereditary neuropathies 31.8 PRX PMP22 MTMR2 MPZ MFN2 MAG
18 charcot-marie-tooth disease, x-linked dominant, 1 31.8 SPTLC1 PRX PMP22 MTMR2 MPZ MFN2
19 neuropathy, hereditary sensory and autonomic, type viii 31.7 SCN11A NGF
20 charcot-marie-tooth disease intermediate type 31.7 MTMR2 MPZ MFN2 LITAF GJB1 GDAP1
21 charcot-marie-tooth disease, axonal, type 2d 31.7 SPTLC1 PMP22 MPZ MFN2 GJB1 GDAP1
22 hypertrophic neuropathy of dejerine-sottas 31.7 SPTLC1 PRX PMP22 MTMR2 MPZ MFN2
23 motor peripheral neuropathy 31.7 SLC12A6 PMP22 MFN2 MAG LITAF
24 charcot-marie-tooth disease, type 4b1 31.7 PRX MTMR2 MPZ LITAF GDAP1 FGD4
25 charcot-marie-tooth disease, x-linked recessive, 2 31.7 MPZ MFN2 LITAF GJB1 EGR2
26 charcot-marie-tooth disease, demyelinating, type 1c 31.6 PRX PMP22 MTMR2 MPZ MFN2 LITAF
27 neuropathy, congenital hypomyelinating, 1, autosomal recessive 31.6 SLC12A6 PRX PMP22 MTMR2 MPZ MFN2
28 charcot-marie-tooth disease, demyelinating, type 1a 31.4 SPTLC1 PRX PMP22 NTF3 MTMR2 MPZ
29 charcot-marie-tooth disease and deafness 31.4 SPTLC1 PRX PMP22 MTMR2 MPZ MFN2
30 charcot-marie-tooth disease, type 4a 31.4 PRX MTMR2 MPZ MFN2 LITAF GJB1
31 charcot-marie-tooth disease, axonal, type 2e 31.3 SPTLC1 SLC12A6 PRX PMP22 NGF MTMR2
32 charcot-marie-tooth disease, type 4b2 31.3 PRX MTMR2 MPZ MFN2 LITAF GJB1
33 axonal neuropathy 31.2 PMP22 MFN2 GDAP1
34 slowed nerve conduction velocity, autosomal dominant 31.1 MPZ GJB1
35 neuropathy, hereditary, with liability to pressure palsies 31.1 PRX PMP22 MTMR2 MPZ MFN2 MAG
36 charcot-marie-tooth disease 31.0 SPTLC1 SLC12A6 SCN11A PRX PMP22 NTF3
37 charcot-marie-tooth disease, axonal, type 2p 30.8 SLC12A6 LITAF GDAP1
38 demyelinating polyneuropathy 30.8 PMP22 NGF MAG
39 charcot-marie-tooth disease, dominant intermediate e 30.8 MTMR2 MPZ GDAP1
40 charcot-marie-tooth disease, axonal, type 2r 30.7 SLC12A6 GDAP1
41 charcot-marie-tooth disease, type 4c 30.7 MTMR2 MPZ LITAF GJB1 GDAP1 FGD4
42 charcot-marie-tooth disease, axonal, type 2f 30.7 MPZ MFN2 LITAF GJB1 GDAP1
43 foot drop 30.7 PMP22 MPZ
44 charcot-marie-tooth disease, dominant intermediate c 30.7 SPTLC1 MPZ GJB1 GDAP1
45 charcot-marie-tooth disease, type 4b3 30.7 PMP22 MTMR2 MPZ GDAP1
46 charcot-marie-tooth disease, dominant intermediate a 30.7 PRX MPZ GJB1 GDAP1
47 charcot-marie-tooth disease, axonal, type 2i 30.7 PRX MPZ GJB1 GDAP1
48 charcot-marie-tooth disease, axonal, type 2l 30.7 SPTLC1 MPZ MFN2 GDAP1
49 charcot-marie-tooth disease, dominant intermediate b 30.6 MTMR2 MPZ LITAF GDAP1
50 charcot-marie-tooth disease, type 4h 30.6 PRX MTMR2 MPZ GDAP1 FGD4

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:

26 (show all 30)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-103 10.18 FGD4
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-105 10.18 SLC12A6
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-108 10.18 NTF3
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-121 10.18 FGD4 SLC12A6
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-125 10.18 FGD4
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-141 10.18 FGD4
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-143 10.18 GJB1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-149 10.18 FGD4
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-160 10.18 FGD4
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-163 10.18 GJB1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 10.18 SLC12A6
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-185 10.18 GJB1
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-202 10.18 NTF3
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-22 10.18 SLC12A6
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 10.18 NTF3
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-33 10.18 SLC12A6
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 10.18 SLC12A6
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-43 10.18 SLC12A6
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-49 10.18 GJB1
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-95 10.18 SLC12A6
21 Decreased viability GR00055-A-1 10.05 GJB1
22 Decreased viability GR00055-A-2 10.05 GJB1
23 Decreased viability GR00221-A-1 10.05 ELAVL4
24 Decreased viability GR00221-A-2 10.05 ELAVL4
25 Decreased viability GR00249-S 10.05 GJB1 MPZ NTF3 SPTLC3
26 Decreased viability GR00381-A-1 10.05 FGD4 MPZ PRX
27 Decreased viability GR00381-A-3 10.05 MPZ
28 Decreased viability GR00386-A-1 10.05 CCT4 EGR2 ELAVL3 MPZ NGF NTF3
29 Decreased viability GR00402-S-2 10.05 CCT4 FGD4 GJB1 MPZ MTMR2 SLC12A6
30 Increased gamma-H2AX phosphorylation GR00053-A 9.23 CCT4 EGR2 ELAVL4 GJB1 MAG MPZ

MGI Mouse Phenotypes related to Sensory Peripheral Neuropathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.25 EGR2 ELAVL3 ELAVL4 FGD4 GDAP1 GJB1
2 growth/size/body region MP:0005378 10.07 EGR2 FGD4 GJB1 MAG MFN2 MTMR2
3 homeostasis/metabolism MP:0005376 10 EGR2 ELAVL3 ELAVL4 FGD4 GDAP1 GJB1
4 nervous system MP:0003631 9.91 EGR2 ELAVL3 ELAVL4 FGD4 GDAP1 GJB1
5 reproductive system MP:0005389 9.28 EGR2 ELAVL4 GDAP1 MPZ MTMR2 NTF3

Drugs & Therapeutics for Sensory Peripheral Neuropathy

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

(show all 49)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Analgesics Phase 4
2
Acetylcarnitine Approved, Investigational Phase 3 3040-38-8 7045767
3
Oxaliplatin Approved, Investigational Phase 3 61825-94-3 5310940 9887054 43805 6857599
4
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
5
Xaliproden Investigational Phase 3 135354-02-8, 428863-50-7 128919
6 carnitine Phase 3
7 Vitamin B9 Phase 3
8 Nutrients Phase 3
9 Micronutrients Phase 3
10 Trace Elements Phase 3
11 Vitamin B Complex Phase 3
12 Vitamins Phase 3
13 Folate Phase 3
14 Nootropic Agents Phase 3
15 Immunoglobulins Phase 3
16 Antibodies Phase 3
17 Immunoglobulins, Intravenous Phase 3
18 Immunologic Factors Phase 3
19 gamma-Globulins Phase 3
20 Rho(D) Immune Globulin Phase 3
21 Cola Phase 3
22 Neurotransmitter Agents Phase 3
23 Serotonin 5-HT1 Receptor Agonists Phase 3
24 Serotonin Receptor Agonists Phase 3
25
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202
26
Midazolam Approved, Illicit Phase 2 59467-70-8 4192
27
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
28
Dexlansoprazole Approved, Investigational Phase 2 138530-94-6, 103577-45-3 9578005
29
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 2 1177-87-3
30
Omeprazole Approved, Investigational, Vet_approved Phase 2 73590-58-6 4594
31
Lansoprazole Approved, Investigational Phase 2 103577-45-3 3883
32
Topiramate Approved Phase 2 97240-79-4 5284627
33
Aspartic acid Approved, Nutraceutical Phase 2 56-84-8 5960
34 Gastrointestinal Agents Phase 2
35 Hormone Antagonists Phase 2
36 Antiemetics Phase 2
37 Hormones Phase 2
38 glucocorticoids Phase 2
39 Antineoplastic Agents, Hormonal Phase 2
40 Proton Pump Inhibitors Phase 2
41
Bilirubin Phase 2 635-65-4 5280352
42 N-Methylaspartate Phase 2
43 Anti-Inflammatory Agents Phase 2
44 Mitogens Phase 2
45 Anticonvulsants Phase 2
46 Hypoglycemic Agents Phase 2
47
L-Alanine Nutraceutical Phase 2 56-41-7 5950
48
Serine Investigational, Nutraceutical Phase 1, Phase 2 56-45-1 5951
49 taxane

Interventional clinical trials:

(show all 23)
# Name Status NCT ID Phase Drugs
1 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
2 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
3 Prospective, Randomised, Placebo-controlled Study of Polyvalent Intravenous Immunoglobulins for the Treatment of Primary Sjögren's Syndrome Associated Painful Sensory Neuropathies Recruiting NCT03700138 Phase 3 Privigen® 100mg/ml at the dose of 2g/kg of body weight;NaCl 0,9%
4 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
5 A Study of Prophylactic Oral Steroids for Fatigue and Malaise Due to Regorafenib Treatment for Unresectable Metastatic Colorectal Cancer: a Randomized, Placebo-controlled, Double-blind Phase 2 Clinical Study (KSCC1402/HGCSG1402) Unknown status NCT02288078 Phase 2 Dexamethasone;Regorafenib;Placebo;Proton pump inhibitor
6 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
7 The Efficacy of MC5-A ("Scrambler") Therapy in the Management of Chemotherapy-Induced Peripheral Neuropathy: A Phase II Pilot Trial Completed NCT00952848 Phase 2
8 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
9 Topiramate as a Disease Modifying Therapy for Cryptogenic Sensory Peripheral Neuropathy in Metabolic Syndrome (CSPN) Active, not recruiting NCT02878798 Phase 2 topiramate
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 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
12 Pathology of Skin, Nerve and Vasculature in the Amputated Limb of Diabetes Unknown status NCT00840164
13 Proprioception and Sensorimotor Control in Hereditary Sensory and Autonomic Neuropathy Completed NCT02876939
14 Clinical Phenotyping and Genotyping of HIV-Associated Sensory Neuropathy: The HIV-POGO Study Completed NCT02555930
15 Disability Severity Scale (DSI) and Hereditary Motor and Sensory Neuropathy Overall Disability Scale (HMSN-R-ODS) Completed NCT02194010
16 Characterization of Sensory Neuropathies Associated With Anti-FGFR3 Antibodies Recruiting NCT02539329
17 Natural History of Familial Dysautonomia Recruiting NCT03920774
18 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
19 Painful Channelopathies Study Recruiting NCT02696746
20 walk2Wellness: Long-term Use Effects of Walkasins® Wearable Sensory Prosthesis on Gait Function, Balance-Confidence, and Social Participation Recruiting NCT03538756
21 Cryotherapy to Prevent Taxane-induced Sensory Neuropathy of the Hands and Feet Recruiting NCT04256512
22 Developing and Testing Instrument to Measure Physical Activity in Charcot-Marie-Tooth: a Pilot Project Enrolling by invitation NCT04461613
23 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

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 29

Anatomical Context for Sensory Peripheral Neuropathy

MalaCards organs/tissues related to Sensory Peripheral Neuropathy:

40
Breast, Lung, Skin, Spinal Cord, Colon, Prostate, Dorsal Root Ganglion

Publications for Sensory Peripheral Neuropathy

Articles related to Sensory Peripheral Neuropathy:

(show top 50) (show all 4248)
# Title Authors PMID Year
1
Whole-genome sequencing of patients with rare diseases in a national health system. 6
32581362 2020
2
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. 6
26257172 2015
3
Atypical, perhaps under-recognized? An unusual phenotype of Friedreich ataxia. 54 61
20162437 2010
4
Six new gap junction beta 1 gene mutations and their phenotypic expression in Czech patients with Charcot-Marie-Tooth disease. 61 54
20039784 2010
5
Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations. 54 61
20008656 2009
6
Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation. 61 54
19651702 2009
7
Hereditary motor and sensory neuropathy caused by a novel mutation in LITAF. 54 61
19541485 2009
8
[Hereditary peripheral neuropathies]. 61 54
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. 61 54
20020398 2009
10
Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders. 61 54
19268652 2009
11
[Polyneuropathy associated with monoclonal gammapathy: treatment perspectives]. 61 54
20120390 2009
12
Mutated mitofusin 2 presents with intrafamilial variability and brain mitochondrial dysfunction. 54 61
18946002 2008
13
Histopathological findings in hereditary motor and sensory neuropathy of axonal type with onset in early childhood associated with mitofusin 2 mutations. 54 61
18957892 2008
14
Hereditary motor and sensory neuropathy Lom type in a Serbian family. 54 61
19364063 2008
15
[Spectrum and frequency of mutations in the connexin 32 gene (GJB1) in hereditary and sensory neuropathy type 1X patients from Bashkortostan]. 54 61
19062535 2008
16
Aldose reductase, still a compelling target for diabetic neuropathy. 61 54
18220710 2008
17
K-Cl cotransport in red blood cells from patients with KCC3 isoform mutants. 61 54
17215889 2006
18
Myelin protein zero mutation His39Pro: hereditary motor and sensory neuropathy with variable onset, hearing loss, restless legs and multiple sclerosis. 61 54
16844954 2006
19
Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations. 54 61
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. 54 61
16399879 2006
21
Clinical, pathological and genetic characterization of hereditary sensory and autonomic neuropathy type 1 (HSAN I). 61 54
16364956 2006
22
Impairment of Trk-neurotrophin receptor by the serum of a patient with subacute sensory neuropathy. 54 61
16216947 2005
23
Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease. 54 61
16172208 2005
24
Analyses of the differentiation potential of satellite cells from myoD-/-, mdx, and PMP22 C22 mice. 54 61
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. 61 54
15561956 2004
26
Clinical and electrophysiological studies of a family with probable X-linked dominant Charcot-Marie-Tooth neuropathy and ptosis. 61 54
15508871 2004
27
Genetic evaluation of inherited motor/sensory neuropathy. 61 54
16106622 2004
28
Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene. 61 54
12821518 2003
29
Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease. 54 61
12872253 2003
30
Regulation of myotubularin-related (MTMR)2 phosphatidylinositol phosphatase by MTMR5, a catalytically inactive phosphatase. 54 61
12668758 2003
31
Regeneration of primary sensory neurons. 61 54
12595748 2003
32
A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPP. 61 54
12634865 2003
33
Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease. 61 54
11571214 2001
34
Molecular basis of hereditary neuropathies. 54 61
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. 61 54
11355152 2001
36
[Molecular genetics of hereditary neuropathies]. 54 61
11299480 2001
37
Steroid responsive polyneuropathy in a family with a novel myelin protein zero mutation. 61 54
11080236 2000
38
Inherited neuropathies: from gene to disease. 54 61
10219749 1999
39
Inherited peripheral neuropathy. 61 54
10716658 1999
40
Biological actions of nerve growth factor in the peripheral nervous system. 61 54
10023124 1999
41
PMP-22 gene duplications and deletions identified in archival, paraffin-embedded sural nerve biopsy specimens: correlation to structural changes. 54 61
9678509 1998
42
The first de novo mutation of the connexin 32 gene associated with X linked Charcot-Marie-Tooth disease. 54 61
9541114 1998
43
Expression of HuD (a paraneoplastic encephalomyelitis antigen) mRNA in lung cancer. 54 61
9288629 1997
44
Charcot-Marie-Tooth disease and related peripheral neuropathies. 54 61
10975746 1997
45
Two divergent types of nerve pathology in patients with different P0 mutations in Charcot-Marie-Tooth disease. 54 61
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. 54 61
8817346 1996
47
Neurotrophic factors in the therapy of peripheral neuropathy. 61 54
8599726 1995
48
[A case of hereditary motor and sensory neuropathy type I with a new type of peripheral myelin protein (PMP)-22 mutation]. 54 61
8777804 1995
49
Structure and function of peripheral nerve myelin proteins. 54 61
7568893 1995
50
Molecular analysis of the HuD gene encoding a paraneoplastic encephalomyelitis antigen in human lung cancer cell lines. 61 54
8069866 1994

Variations for Sensory Peripheral Neuropathy

ClinVar genetic disease variations for Sensory Peripheral Neuropathy:

6
# 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 SCN11A NM_001349253.2(SCN11A):c.4628G>A (p.Cys1543Tyr) SNV Likely pathogenic 701958 rs151155193 GRCh37: 3:38888933-38888933
GRCh38: 3:38847442-38847442
3 SPTLC3 NM_018327.4(SPTLC3):c.448T>C (p.Trp150Arg) SNV Likely pathogenic 243088 rs755919784 GRCh37: 20:13053048-13053048
GRCh38: 20:13072400-13072400
4 GJB1 NM_000166.6(GJB1):c.502T>G (p.Cys168Gly) SNV Likely pathogenic 373934 rs1057518780 GRCh37: X:70444059-70444059
GRCh38: X:71224209-71224209
5 MPZ NM_000530.8(MPZ):c.293G>A (p.Arg98His) SNV Likely pathogenic 14176 rs121913589 GRCh37: 1:161276653-161276653
GRCh38: 1:161306863-161306863
6 MED25 NM_030973.3(MED25):c.1778_1779del (p.Gln593fs) Deletion Uncertain significance 409952 rs763039409 GRCh37: 19:50339015-50339016
GRCh38: 19:49835758-49835759
7 AP1B1 NM_001127.3(AP1B1):c.637G>A (p.Glu213Lys) SNV Uncertain significance 598986 rs1569159579 GRCh37: 22:29752494-29752494
GRCh38: 22:29356505-29356505
8 POMT1 NM_001077365.2(POMT1):c.1793G>A (p.Arg598Gln) SNV Uncertain significance 373970 rs202140413 GRCh37: 9:134396827-134396827
GRCh38: 9:131521440-131521440
9 SLC12A1 NM_000338.3(SLC12A1):c.2255C>T (p.Ala752Val) SNV Uncertain significance 316268 rs137893258 GRCh37: 15:48559858-48559858
GRCh38: 15:48267661-48267661

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 11.4 NGF MAG GDAP1
2 11.14 PMP22 MPZ GJB1
3
Show member pathways
10.62 NTF3 NGF MAG

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 axon GO:0030424 9.35 SCN11A NTF3 NGF MTMR2 ELAVL4
2 serine C-palmitoyltransferase complex GO:0017059 8.62 SPTLC3 SPTLC1

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

# Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 9.65 NTF3 MAG GJB1 ELAVL4 ELAVL3
2 mitochondrial fusion GO:0008053 9.43 MFN2 GDAP1
3 positive regulation of myelination GO:0031643 9.4 MAG EGR2
4 nerve development GO:0021675 9.37 NTF3 NGF
5 sphingosine biosynthetic process GO:0046512 9.32 SPTLC3 SPTLC1
6 nerve growth factor signaling pathway GO:0038180 9.16 NTF3 NGF
7 myelin assembly GO:0032288 8.96 PMP22 MTMR2
8 peripheral nervous system development GO:0007422 8.92 PMP22 NTF3 NGF 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 8.96 NTF3 NGF
2 serine C-palmitoyltransferase activity GO:0004758 8.62 SPTLC3 SPTLC1

Sources for Sensory Peripheral Neuropathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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