Sensory Peripheral Neuropathy disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

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

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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...

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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:

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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

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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

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Genetic Tests for Sensory Peripheral Neuropathy

Genetic tests related to Sensory Peripheral Neuropathy:

#	Genetic test	Affiliating Genes
1	Sensory Neuropathy ²⁸

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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

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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	Turro E...Ouwehand WH	32581362	2020
2	Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. ⁵	Gonzaga-Jauregui C...Lupski JR	26257172	2015
3	Atypical, perhaps under-recognized? An unusual phenotype of Friedreich ataxia. ⁵³ ⁶²	Diehl B...Natowicz MR	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	Brozkova D...Seeman P	20039784	2010
5	Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations. ⁵³ ⁶²	Calvo J...Magdelaine C	20008656	2009
6	Hereditary motor and sensory neuropathy caused by a novel mutation in LITAF. ⁵³ ⁶²	Gerding WM...Neusch C	19541485	2009
7	Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation. ⁵³ ⁶²	Rotthier A...Timmerman V	19651702	2009
8	[Hereditary peripheral neuropathies]. ⁵³ ⁶²	Vallat JM...Funalot B	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	Rudnik-Schoneborn S...Zerres K	20020398	2009
10	Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders. ⁵³ ⁶²	Carelli V...Sadun AA	19268652	2009
11	[Polyneuropathy associated with monoclonal gammapathy: treatment perspectives]. ⁵³ ⁶²	Leger JM...Neil J	20120390	2009
12	Mutated mitofusin 2 presents with intrafamilial variability and brain mitochondrial dysfunction. ⁵³ ⁶²	Del Bo R...Comi GP	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	Vallat JM...Funalot B	18957892	2008
14	Hereditary motor and sensory neuropathy Lom type in a Serbian family. ⁵³ ⁶²	Dackovic J...Apostolski S	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	Khidiianova IM...Khusnutdinova EK	19062535	2008
16	Aldose reductase, still a compelling target for diabetic neuropathy. ⁵³ ⁶²	Oates PJ	18220710	2008
17	K-Cl cotransport in red blood cells from patients with KCC3 isoform mutants. ⁵³ ⁶²	Lauf PK...Rouleau GA	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	Kilfoyle DH...Klein CJ	16844954	2006
19	Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations. ⁵³ ⁶²	Chung KW...Choi BO	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	Bouhouche A...Yahyaoui M	16399879	2006
21	Clinical, pathological and genetic characterization of hereditary sensory and autonomic neuropathy type 1 (HSAN I). ⁵³ ⁶²	Houlden H...Reilly MM	16364956	2006
22	Impairment of Trk-neurotrophin receptor by the serum of a patient with subacute sensory neuropathy. ⁵³ ⁶²	Mutoh T...Yamamoto H	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	Niemann A...Suter U	16172208	2005
24	Analyses of the differentiation potential of satellite cells from myoD-/-, mdx, and PMP22 C22 mice. ⁵³ ⁶²	Schuierer MM...Hughes SM	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	Uehara K...Yagihashi S	15561956	2004
26	Clinical and electrophysiological studies of a family with probable X-linked dominant Charcot-Marie-Tooth neuropathy and ptosis. ⁵³ ⁶²	Wu T...Huang CC	15508871	2004
27	Genetic evaluation of inherited motor/sensory neuropathy. ⁵³ ⁶²	Chance PF	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	Sevilla T...Vilchez JJ	12821518	2003
29	Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease. ⁵³ ⁶²	Hunter M...Kalaydjieva L	12872253	2003
30	Regulation of myotubularin-related (MTMR)2 phosphatidylinositol phosphatase by MTMR5, a catalytically inactive phosphatase. ⁵³ ⁶²	Kim SA...Dixon JE	12668758	2003
31	Regeneration of primary sensory neurons. ⁵³ ⁶²	Donnerer J	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	Thiel CT...Reis A	12634865	2003
33	Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease. ⁵³ ⁶²	Dubourg O...LeGuern E	11571214	2001
34	Molecular basis of hereditary neuropathies. ⁵³ ⁶²	Chance PF	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	Yener GG...Genc A	11355152	2001
36	[Molecular genetics of hereditary neuropathies]. ⁵³ ⁶²	Stogbauer F	11299480	2001
37	Steroid responsive polyneuropathy in a family with a novel myelin protein zero mutation. ⁵³ ⁶²	Donaghy M...Bell C	11080236	2000
38	Inherited neuropathies: from gene to disease. ⁵³ ⁶²	Keller MP...Chance PF	10219749	1999
39	Inherited peripheral neuropathy. ⁵³ ⁶²	Keller MP...Chance PF	10716658	1999
40	Biological actions of nerve growth factor in the peripheral nervous system. ⁵³ ⁶²	Rask CA	10023124	1999
41	PMP-22 gene duplications and deletions identified in archival, paraffin-embedded sural nerve biopsy specimens: correlation to structural changes. ⁵³ ⁶²	Thiex R...Schroder JM	9678509	1998
42	The first de novo mutation of the connexin 32 gene associated with X linked Charcot-Marie-Tooth disease. ⁵³ ⁶²	Meggouh F...LeGuern E	9541114	1998
43	Expression of HuD (a paraneoplastic encephalomyelitis antigen) mRNA in lung cancer. ⁵³ ⁶²	Cho JH...Noguchi M	9288629	1997
44	Charcot-Marie-Tooth disease and related peripheral neuropathies. ⁵³ ⁶²	De Jonghe P...Van Broeckhoven C	10975746	1997
45	Two divergent types of nerve pathology in patients with different P0 mutations in Charcot-Marie-Tooth disease. ⁵³ ⁶²	Gabreels-Festen AA...Mariman EC	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	Bolino A...Devoto M	8817346	1996
47	Neurotrophic factors in the therapy of peripheral neuropathy. ⁵³ ⁶²	Apfel SC...Kessler JA	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	Ohnishi A...Fukushima Y	8777804	1995
49	Structure and function of peripheral nerve myelin proteins. ⁵³ ⁶²	Uyemura K...Takeda Y	7568893	1995
50	Molecular analysis of the HuD gene encoding a paraneoplastic encephalomyelitis antigen in human lung cancer cell lines. ⁵³ ⁶²	Sekido Y...Minna JD	8069866	1994

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Genes for Sensory Peripheral Neuropathy

Genes related to Sensory Peripheral Neuropathy (1 elite genes):

(show all 39)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	GDAP1	Ganglioside Induced Differentiation Associated Protein 1	Protein Coding	416.41	Pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³	16172208 12821518
2	MPZ	Myelin Protein Zero	Protein Coding	42.31	Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³	8797476 10219749 8599717 (more) 11299480 1733853 8950710 16844954 11080236 7528817 7568893 10975746 9488160 11345007 19327944
3	GJB1	Gap Junction Protein Beta 1	Protein Coding	41.33	Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³	19062535 15508871 9541114 (more) 10975746 20039784 11571214 8599717
4	SCN11A	Sodium Voltage-Gated Channel Alpha Subunit 11	Protein Coding	30.15	Likely pathogenic ⁵ DISEASES inferred ¹⁴	32581362
5	SPTLC3	Serine Palmitoyltransferase Long Chain Base Subunit 3	Protein Coding	29	Likely pathogenic ⁵ DISEASES inferred ¹⁴	26257172
6	PMP22	Peripheral Myelin Protein 22	Protein Coding	17.21	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	1552943 9678509 11355152 (more) 7745607 10219749 8599717 11002284 11299480 8777804 12634865 8917086 10716658 15762989 7849745 10975746 9488160 11345007 16106622 19327944
7	MTMR2	Myotubularin Related Protein 2	Protein Coding	15.74	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	8817346 12668758
8	SPTLC1	Serine Palmitoyltransferase Long Chain Base Subunit 1	Protein Coding	15.54	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	16364956
9	MFN2	Mitofusin 2	Protein Coding	15.49	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	18957892 16835246 20008656 (more) 18946002
10	ELAVL4	ELAV Like RNA Binding Protein 4	Protein Coding	15.3	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	8069866 9288629
11	CCT4	Chaperonin Containing TCP1 Subunit 4	Protein Coding	14.87	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	16399879
12	PRX	Periaxin	Protein Coding	14.42	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	16106622
13	MAG	Myelin Associated Glycoprotein	Protein Coding	14	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	1706491 20120390
14	ELAVL3	ELAV Like RNA Binding Protein 3	Protein Coding	14	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	9288629
15	SLC12A6	Solute Carrier Family 12 Member 6	Protein Coding	13.95	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	17215889 20020398
16	NGF	Nerve Growth Factor	Protein Coding	13.14	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	12595748 8866130 10023124 (more) 8599726
17	EGR2	Early Growth Response 2	Protein Coding	13.07	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	16106622 19327944
18	NTF3	Neurotrophin 3	Protein Coding	13.04	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	8599726
19	LITAF	Lipopolysaccharide Induced TNF Factor	Protein Coding	12.87	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	19541485
20	FLVCR1	FLVCR Heme Transporter 1	Protein Coding	12.58	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
21	NDRG1	N-Myc Downstream Regulated 1	Protein Coding	12.57	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	12872253 19364063
22	FXN	Frataxin	Protein Coding	12.52	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	20162437 19268652
23	NTRK1	Neurotrophic Receptor Tyrosine Kinase 1	Protein Coding	11.09	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	16216947 19651702
24	MTM1	Myotubularin 1	Protein Coding	10.66	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	12668758
25	AKR1B1	Aldo-Keto Reductase Family 1 Member B	Protein Coding	10.3	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	15561956 18220710
26	HEXA	Hexosaminidase Subunit Alpha	Protein Coding	9.38	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	1302293
27	BDNF	Brain Derived Neurotrophic Factor	Protein Coding	9.15	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	7838303 8599726
28	CNTF	Ciliary Neurotrophic Factor	Protein Coding	8.77	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	8599726
29	MIR3678	MicroRNA 3678	RNA Gene	6.98	DISEASES inferred ¹⁴ ¹⁴
30	RETREG1	Reticulophagy Regulator 1	Protein Coding	6.87	DISEASES inferred ¹⁴
31	TRPV1	Transient Receptor Potential Cation Channel Subfamily V Member 1	Protein Coding	6.63	DISEASES inferred ¹⁴
32	FGD4	FYVE, RhoGEF And PH Domain Containing 4	Protein Coding	6.56	DISEASES inferred ¹⁴
33	UCHL1	Ubiquitin C-Terminal Hydrolase L1	Protein Coding	6.53	DISEASES inferred ¹⁴
34	CCT5	Chaperonin Containing TCP1 Subunit 5	Protein Coding	6.48	DISEASES inferred ¹⁴
35	SH3TC2	SH3 Domain And Tetratricopeptide Repeats 2	Protein Coding	6.44	DISEASES inferred ¹⁴
36	TAC1	Tachykinin Precursor 1	Protein Coding	6.41	DISEASES inferred ¹⁴
37	POLG	DNA Polymerase Gamma, Catalytic Subunit	Protein Coding	6.26	DISEASES inferred ¹⁴
38	CSF3	Colony Stimulating Factor 3	Protein Coding	6.22	DISEASES inferred ¹⁴
39	ALB	Albumin	Protein Coding	6.21	DISEASES inferred ¹⁴

Sources

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

Sources

Expression for Sensory Peripheral Neuropathy

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

Sources

Pathways for Sensory Peripheral Neuropathy

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

#	Super pathways	Score	Top Affiliating Genes
1	Guidance Cues and Growth Cone Motility ⁶⁴	11.57	NGF MAG GDAP1
2	Neural crest differentiation ⁷⁴	11.44	PMP22 MPZ GJB1
3	EGR2 and SOX10-mediated initiation of Schwann cell myelination ⁶⁶	10.8	PRX PMP22 MPZ MAG EGR2
4	Intracellular trafficking proteins involved in CMT neuropathy ⁷⁴	10.6	PMP22 MTMR2 MPZ MFN2 LITAF GDAP1
5	ceramide de novo biosynthesis ⁶¹ Show member pathways sphingolipid biosynthesis (mammals) ⁶¹	10.3	SPTLC3 SPTLC1

Sources

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

Sources for Sensory Peripheral Neuropathy

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: SNS003 MIFTS: 51	Sensory Peripheral Neuropathy Categories: Neuronal diseases	Data Licensing For inquiries, contact: [email protected]
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