MCID: HRD088
MIFTS: 39

Hereditary Neuropathies

Categories: Immune diseases, Neuronal diseases

Aliases & Classifications for Hereditary Neuropathies

MalaCards integrated aliases for Hereditary Neuropathies:

Name: Hereditary Neuropathies 54
Hereditary Neuropathy 55 72
Neuropathy - Hereditary 54

Classifications:



External Ids:

UMLS 72 C0598589

Summaries for Hereditary Neuropathies

NINDS : 54 Hereditary neuropathies are a group of inherited disorders affecting the peripheral nervous system. The hereditary neuropathies are divided into four major subcategories: hereditary motor and sensory neuropathy, hereditary sensory neuropathy, hereditary motor neuropathy, and hereditary sensory and autonomic neuropathy. The most common type is Charcot-Marie-Tooth disease, one of the hereditary motor and sensory neuropathies. Symptoms of the hereditary neuropathies vary according to the type and may include sensory symptoms such as numbness, tingling, and pain in the feet and hands; or motor symptoms such as weakness and loss of muscle bulk, particularly in the lower leg and feet muscles. Certain types of hereditary neuropathies can affect the autonomic nerves, resulting in impaired sweating, postural hypotension, or insensitivity to pain. Some people may have foot deformities such as high arches and hammer toes, thin calf muscles (having the appearance of an inverted champagne glass) or scoliosis (curvature of the spine). The symptoms of hereditary neuropathies may be apparent at birth or appear in middle or late life. They can vary among different family members, with some family members being more severely affected than others. The hereditary neuropathies can be diagnosed by blood tests for genetic testing, nerve conduction studies, and nerve biopsies.

MalaCards based summary : Hereditary Neuropathies, also known as hereditary neuropathy, is related to charcot-marie-tooth hereditary neuropathy and neuropathy, hereditary, with liability to pressure palsies. An important gene associated with Hereditary Neuropathies is PMP22 (Peripheral Myelin Protein 22), and among its related pathways/superpathways are Neural Crest Differentiation and Glial Cell Differentiation. The drugs Idebenone and Ubiquinone have been mentioned in the context of this disorder. Affiliated tissues include testes, skin and spinal cord, and related phenotypes are Increased gamma-H2AX phosphorylation and behavior/neurological

Related Diseases for Hereditary Neuropathies

Diseases in the Neuropathy family:

Autoimmune Neuropathy Hereditary Neuropathies

Diseases related to Hereditary Neuropathies via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 306)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth hereditary neuropathy 34.4 PMP22 MPZ
2 neuropathy, hereditary, with liability to pressure palsies 33.3 PMP22 MTMR2 MPZ MFN2 GJB1
3 neuropathy 31.4 PRX PMP22 MPZ MFN2 GJB1
4 foot drop 31.2 PMP22 MPZ
5 roussy-levy hereditary areflexic dystasia 31.1 PMP22 MPZ
6 amyotrophic neuralgia 30.9 PRX PMP22 GJB1
7 charcot-marie-tooth disease type 2a2 30.8 MFN2 DNAJB2
8 polyneuropathy 30.6 PMP22 MPZ MBP MAG
9 chronic inflammatory demyelinating polyradiculoneuropathy 30.6 PMP22 MPZ
10 guillain-barre syndrome 30.6 PMP22 MPZ MBP
11 charcot-marie-tooth disease, demyelinating, type 1a 30.6 PMP22 MTMR2 MPZ MFN2 GJB1
12 charcot-marie-tooth disease, demyelinating, type 1c 30.4 PMP22 MPZ GJB1
13 charcot-marie-tooth disease, axonal, type 2b 30.4 PMP22 MPZ GJB1
14 charcot-marie-tooth disease, demyelinating, type 1b 30.4 PMP22 MTMR2 MPZ GJB1
15 charcot-marie-tooth disease, axonal, type 2f 30.3 MPZ HSPB1 GJB1
16 charcot-marie-tooth disease, type 4b2 30.2 PRX MTMR2
17 charcot-marie-tooth disease, demyelinating, type 1f 30.2 PMP22 MPZ GJB1
18 charcot-marie-tooth disease, axonal, type 2d 30.2 PMP22 MPZ GJB1
19 charcot-marie-tooth disease, x-linked dominant, 1 30.2 PMP22 MPZ GJB1
20 axonal neuropathy 30.2 PMP22 MFN2 LMNA
21 neuromuscular disease 30.1 PMP22 MPZ LMNA
22 charcot-marie-tooth disease, demyelinating, type 4f 30.1 PRX MTMR2
23 hypertrophic neuropathy of dejerine-sottas 30.0 PRX PMP22 MTMR2 MPZ GJB1
24 charcot-marie-tooth disease, type 4b1 30.0 PRX MTMR2
25 acute disseminated encephalomyelitis 30.0 MPZ MBP
26 charcot-marie-tooth disease, type 4a 30.0 PRX MTMR2
27 charcot-marie-tooth disease, type 4d 30.0 NDRG1 MFN2 GJB1
28 charcot-marie-tooth disease, axonal, type 2l 30.0 MPZ HSPB1
29 charcot-marie-tooth disease, axonal, type 2b1 29.9 LMNA DNAJB2
30 hereditary motor and sensory neuropathy, type iic 29.7 NDRG1 MPZ MFN2 GJB1
31 polyradiculoneuropathy 29.7 PMP22 MPZ MBP MAG
32 charcot-marie-tooth disease, demyelinating, type 1d 29.0 PMP22 NDRG1 MTMR2 MPZ GJB1
33 charcot-marie-tooth disease and deafness 29.0 PMP22 MTMR2 MPZ MFN2 GJB1 CDRT1
34 peripheral nervous system disease 28.8 PRX PMP22 MTMR2 MPZ MFN2 MBP
35 motor peripheral neuropathy 28.7 PMP22 NDRG1 MTMR2 MPZ MFN2 GJB1
36 sensory peripheral neuropathy 28.5 PRX PMP22 NDRG1 MTMR2 MPZ MFN2
37 tooth disease 28.4 PRX PMP22 NDRG1 MTMR2 MPZ MFN2
38 pelizaeus-merzbacher disease 28.2 PMP22 PLP1 MPZ MBP MAG
39 charcot-marie-tooth disease, axonal, type 2e 28.1 PMP22 MTMR2 MPZ MFN2 LMNA GJB1
40 charcot-marie-tooth disease 26.7 PRX PMP22 PLP1 NDRG1 MTMR2 MPZ
41 neuropathy, hereditary sensory and autonomic, type iia 12.5
42 neuropathy, hereditary motor and sensory, okinawa type 12.4
43 neuropathy, hereditary sensory and autonomic, type vi 12.4
44 neuropathy, hereditary sensory and autonomic, type vii 12.4
45 neuropathy, hereditary sensory and autonomic, type ia 12.4
46 neuropathy, hereditary sensory and autonomic, type ic 12.4
47 neuropathy, hereditary motor and sensory, type vib, with optic atrophy 12.3
48 neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive 12.3
49 neuropathy, hereditary sensory and autonomic, type v 12.3
50 neuropathy, hereditary sensory and autonomic, type iib 12.3

Graphical network of the top 20 diseases related to Hereditary Neuropathies:



Diseases related to Hereditary Neuropathies

Symptoms & Phenotypes for Hereditary Neuropathies

GenomeRNAi Phenotypes related to Hereditary Neuropathies according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased gamma-H2AX phosphorylation GR00053-A 9.32 FBXW10 GJB1 HSPB1 LMNA MAG MBP

MGI Mouse Phenotypes related to Hereditary Neuropathies:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.26 GJB1 LMNA MAG MBP MFN2 MPZ
2 growth/size/body region MP:0005378 10.17 GJB1 HSPB1 LMNA MBP MFN2 MTMR2
3 cellular MP:0005384 10.11 GJB1 HSPB1 LMNA MBP MFN2 MPZ
4 homeostasis/metabolism MP:0005376 10.06 GJB1 HSPB1 LMNA MAG MBP MFN2
5 hematopoietic system MP:0005397 9.97 GJB1 HSPB1 LMNA MAG MBP MPZ
6 nervous system MP:0003631 9.93 GJB1 LMNA MAG MBP MFN2 MPZ
7 immune system MP:0005387 9.86 GJB1 HSPB1 LMNA MAG MBP MPZ
8 hearing/vestibular/ear MP:0005377 9.8 LMNA MBP PLP1 PMP22 RAG1
9 normal MP:0002873 9.5 HSPB1 KIF2B LMNA MBP MFN2 MTMR2
10 vision/eye MP:0005391 9.17 GJB1 LMNA MBP NDRG1 PLP1 PMP22

Drugs & Therapeutics for Hereditary Neuropathies

Drugs for Hereditary Neuropathies (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Idebenone Approved, Investigational Phase 1 58186-27-9
2 Ubiquinone Phase 1
3 Micronutrients Phase 1
4 Trace Elements Phase 1
5 Antioxidants Phase 1
6 Protective Agents Phase 1
7 Nutrients Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Safety and Efficacy Study of Gene Therapy for The Treatment of Leber's Hereditary Optic Neuropathy Active, not recruiting NCT03153293 Phase 2, Phase 3 rAAV2-ND4
2 Phase I Clinical Trial to Establish the Maximum Tolerated Dose of Idebenone in Children, Adolescents, and Adults With Friedreich's Ataxia Completed NCT00015808 Phase 1 Idebenone
3 Phase 1B Clinical Trial to Establish the Safety and Tolerability of a Multiple-Dose Regimen of Idebenone Administered to Patients With Friedreich's Ataxia Completed NCT00078481 Phase 1 Idebenone
4 Transcorneal Electrical Stimulation Therapy for Retinal Disease - A Randomized, Single-blind Pilot Study Completed NCT00804102
5 Efficacy of Platelet Rich Plasma Injection in Diabetic Neuropathy: Double Blinded Randomized Controlled Trial Completed NCT03250403 PRP injection
6 Patient Reported Outcomes Measures (PROM) in Carpal Tunnel Therapies in Patients With Inherited Neuropathies Completed NCT02788734
7 Magnetic Resonance Diagnostics of Diabetic Peripheral Neuropathy Completed NCT01847937
8 Analysis of Pain and Quality of Life in Patients With Charcot-Marie-Tooth Neuropathy (CMT) Recruiting NCT03966287
9 Prevalence and Characteristics of Fabry Disease (FD) in Patients With Stroke or Small Fiber Neuropathy Recruiting NCT03230149
10 Clinical and Molecular Manifestations of Inherited Neurological Disorders Recruiting NCT00004568

Search NIH Clinical Center for Hereditary Neuropathies

Genetic Tests for Hereditary Neuropathies

Anatomical Context for Hereditary Neuropathies

MalaCards organs/tissues related to Hereditary Neuropathies:

41
Testes, Skin, Spinal Cord, Liver, Brain, Bone, Bone Marrow

Publications for Hereditary Neuropathies

Articles related to Hereditary Neuropathies:

(show top 50) (show all 942)
# Title Authors PMID Year
1
Quantitative fluorescence-polymerase chain reaction assay for the detection of the duplication of the Charcot Marie Tooth disease type 1A critical region. 9 38
20187762 2010
2
Peripheral myelin protein 22 is regulated post-transcriptionally by miRNA-29a. 9 38
19170179 2009
3
PMP22 expression in dermal nerve myelin from patients with CMT1A. 9 38
19447823 2009
4
Hereditary neuropathy with liability to pressure palsies and amyotrophic lateral sclerosis. 9 38
19238316 2009
5
Entrapment in anti myelin-associated glycoprotein neuropathy. 9 38
19306083 2009
6
A laminin-2, dystroglycan, utrophin axis is required for compartmentalization and elongation of myelin segments. 9 38
19321787 2009
7
[Ultrastructural lesions of axonal mitochondria in patients with childhood-onset Charcot-Marie-Tooth disease due to MFN2 mutations]. 9 38
19718987 2009
8
A newly identified Thr99fsX110 mutation in the PMP22 gene associated with an atypical phenotype of the hereditary neuropathy with liability to pressure palsies. 9 38
19830275 2009
9
Histopathological findings in hereditary motor and sensory neuropathy of axonal type with onset in early childhood associated with mitofusin 2 mutations. 9 38
18957892 2008
10
Pharmacological induction of the heat shock response improves myelination in a neuropathic model. 9 38
18655835 2008
11
Compound heterozygous deletions of PMP22 causing severe Charcot-Marie-Tooth disease of the Dejerine-Sottas disease phenotype. 9 38
18698610 2008
12
A new single-nucleotide deletion of PMP22 in an HNPP family without recurrent palsies. 9 38
18642376 2008
13
Hereditary neuropathy with liability to pressure palsies in a Turkish patient (HNPP): a rare cause of entrapment neuropathies in young adults. 9 38
18382985 2008
14
A novel point mutation in PMP22 gene in an Italian family with hereditary neuropathy with liability to pressure palsies. 9 38
17707409 2007
15
Stoichiometric alteration of PMP22 protein determines the phenotype of hereditary neuropathy with liability to pressure palsies. 9 38
17620487 2007
16
Phenotype of Charcot-Marie-Tooth disease Type 2. 9 38
17502546 2007
17
The formation of peripheral myelin protein 22 aggregates is hindered by the enhancement of autophagy and expression of cytoplasmic chaperones. 9 38
17174099 2007
18
Identification of Alu elements mediating a partial PMP22 deletion. 9 38
16570190 2006
19
Multi-level regulation of myotubularin-related protein-2 phosphatase activity by myotubularin-related protein-13/set-binding factor-2. 9 38
16399794 2006
20
Double trouble in hereditary neuropathy: concomitant mutations in the PMP-22 gene and another gene produce novel phenotypes. 9 38
16401743 2006
21
Left ventricular hypertrabeculation/noncompaction with PMP22 duplication-based Charcot-Marie-Tooth disease type 1A. 9 38
16449811 2006
22
A rapid and reliable detection system for the analysis of PMP22 gene dosage by MP/DHPLC assay. 9 38
16463004 2006
23
Central nervous system involvement in hereditary neuropathy with liability to pressure palsies: description of a large family with this association. 9 38
16344349 2005
24
Recurrent polyradiculoneuropathy and PMP22 defects. 9 38
16323394 2005
25
Detection of genomic rearrangements by DHPLC: a prospective study of 90 patients with inherited peripheral neuropathies associated with 17p11.2 rearrangements. 9 38
15940694 2005
26
A family with a novel frameshift mutation in the PMP22 gene (c.433_434insC) causing a phenotype of hereditary neuropathy with liability to pressure palsies. 9 38
15955700 2005
27
Effectiveness of real-time quantitative PCR compare to repeat PCR for the diagnosis of Charcot-Marie-Tooth Type 1A and hereditary neuropathy with liability to pressure palsies. 9 38
15988805 2005
28
Skin biopsies in myelin-related neuropathies: bringing molecular pathology to the bedside. 9 38
15774502 2005
29
Neuroprotective effect of the immune system in a mouse model of severe dysmyelinating hereditary neuropathy: enhanced axonal degeneration following disruption of the RAG-1 gene. 9 38
15607947 2005
30
Application of multiplex ligation-dependent probe analysis to define a small deletion encompassing PMP22 exons 4 and 5 in hereditary neuropathy with liability to pressure palsies. 9 38
15564036 2004
31
A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes. 9 38
15205993 2004
32
Loss-of-function phenotype of hereditary neuropathy with liability to pressure palsies. 9 38
14755484 2004
33
Distinct elements of the peripheral myelin protein 22 (PMP22) promoter regulate expression in Schwann cells and sensory neurons. 9 38
14664827 2003
34
Rapid detection of duplication/deletion of the PMP22 gene in patients with Charcot-Marie-Tooth disease Type 1A and hereditary neuropathy with liability to pressure palsy by real-time quantitative PCR using SYBR Green I dye. 9 38
14555828 2003
35
Thr(118)Met amino acid substitution in the peripheral myelin protein 22 does not influence the clinical phenotype of Charcot-Marie-Tooth disease type 1A due to the 17p11.2-p12 duplication. 9 38
14502374 2003
36
Phenotypic differences between peripheral myelin protein-22 (PMP22) and myelin protein zero (P0) mutations associated with Charcot-Marie-Tooth-related diseases. 9 38
12901701 2003
37
Hereditary neuropathy with liability to pressure palsies in infancy. 9 38
12849887 2003
38
A rapid and definitive test for Charcot-Marie-Tooth 1A and hereditary neuropathy with liability to pressure palsies using multiplexed real-time PCR. 9 38
12885335 2003
39
Hereditary neuropathy with liability to pressure palsies with a small deletion interrupting the PMP22 gene. 9 38
12207933 2002
40
Charcot-Marie-Tooth neuropathy: clinical phenotypes of four novel mutations in the MPZ and Cx 32 genes. 9 38
12207932 2002
41
[Analysis of mutations in the chromosome 17p11.2 region in patients with Charcot-Marie-Tooth type 1 disease and in patients with tomaculous neuropathy]. 9 38
12154515 2002
42
Hereditary neuropathy with liability to pressure palsies associated with central nervous system myelin lesions. 9 38
11784354 2001
43
Identification of a positive regulatory element in the myelin-specific promoter of the PMP22 gene. 9 38
11550219 2001
44
CNS myelination and PLP gene dosage. 9 38
11535114 2001
45
Transcriptional startpoints and methylation patterns in the PMP22 promoters of peripheral nerve, leukocytes and tumor cell lines. 9 38
11351283 2001
46
A novel 3'-splice site mutation in peripheral myelin protein 22 causing hereditary neuropathy with liability to pressure palsies. 9 38
11369192 2001
47
Mutations in the 5' region of the myotubularin-related protein 2 (MTMR2) gene in autosomal recessive hereditary neuropathy with focally folded myelin. 9 38
11335693 2001
48
[Hereditary neuropathy with pressure palsies]. 9 38
11255855 2001
49
[Molecular genetics of hereditary neuropathies]. 9 38
11299480 2001
50
Screening for Charcot-Marie-Tooth type 1A and hereditary neuropathy with liability to pressure palsy in archival nerve biopsy samples by direct-double-differential PCR. 9 38
11045666 2000

Variations for Hereditary Neuropathies

Expression for Hereditary Neuropathies

Search GEO for disease gene expression data for Hereditary Neuropathies.

Pathways for Hereditary Neuropathies

Pathways related to Hereditary Neuropathies according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.27 PMP22 MPZ MBP GJB1
2 9.7 PLP1 MBP MAG

GO Terms for Hereditary Neuropathies

Cellular components related to Hereditary Neuropathies according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 microtubule cytoskeleton GO:0015630 9.33 NDRG1 MFN2 KIF2B
2 myelin sheath GO:0043209 9.26 PLP1 MPZ MBP MAG
3 compact myelin GO:0043218 8.8 PMP22 MBP MAG

Biological processes related to Hereditary Neuropathies according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.76 PMP22 NDRG1 LMNA DNAJB2
2 chemical synaptic transmission GO:0007268 9.62 PMP22 PLP1 MPZ MBP
3 chaperone-mediated protein folding GO:0061077 9.43 HSPB1 DNAJB2
4 response to unfolded protein GO:0006986 9.43 MFN2 HSPB1 DNAJB2
5 cell-cell adhesion via plasma-membrane adhesion molecules GO:0098742 9.4 MPZ MAG
6 central nervous system myelination GO:0022010 9.37 PLP1 MAG
7 myelination GO:0042552 9.26 PMP22 PLP1 MPZ MBP
8 myelin assembly GO:0032288 9.16 PMP22 MTMR2
9 axon ensheathment GO:0008366 8.8 PRX PLP1 MBP

Molecular functions related to Hereditary Neuropathies according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.35 RAG1 MTMR2 MAG HSPB1 GJB1
2 structural constituent of myelin sheath GO:0019911 8.62 PLP1 MBP

Sources for Hereditary Neuropathies

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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