MCID: HRD088
MIFTS: 37

Hereditary Neuropathies

Categories: Immune diseases, Neuronal diseases
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Aliases & Classifications for Hereditary Neuropathies

MalaCards integrated aliases for Hereditary Neuropathies:

Name: Hereditary Neuropathies 52
Hereditary Neuropathy 53 71 33

Classifications:



External Ids:

UMLS 71 C0598589

Summaries for Hereditary Neuropathies

NINDS: 52 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 roussy-levy hereditary areflexic dystasia and nerve compression syndrome. An important gene associated with Hereditary Neuropathies is PMP22 (Peripheral Myelin Protein 22), and among its related pathways/superpathways are Neural crest differentiation and Oligodendrocyte specification and differentiation, leading to myelin components for CNS. The drug Sorbitol has been mentioned in the context of this disorder. Affiliated tissues include spinal cord, skeletal muscle and bone marrow, and related phenotypes are Increased gamma-H2AX phosphorylation and nervous system

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 257)
# Related Disease Score Top Affiliating Genes
1 roussy-levy hereditary areflexic dystasia 31.0 PMP22 MPZ
2 nerve compression syndrome 30.7 PMP22 MPZ
3 amyotrophic neuralgia 30.4 PMP22 MPZ
4 plexopathy 30.3 PMP22 MPZ MAG
5 polyradiculoneuropathy 30.3 PMP22 MPZ
6 carpal tunnel syndrome 30.3 PMP22 MPZ
7 ulnar neuropathy 30.3 PMP22 MPZ
8 motor peripheral neuropathy 30.2 PMP22 MFN2 MAG
9 chronic inflammatory demyelinating polyradiculoneuropathy 30.1 PMP22 MPZ MAG
10 peroneal neuropathy 29.9 PMP22 MPZ
11 chronic polyneuropathy 29.9 PMP22 MAG
12 charcot-marie-tooth disease, x-linked dominant, 1 29.8 PMP22 MTMR2 MPZ MFN2 GJB1
13 charcot-marie-tooth disease, axonal, type 2a1 29.8 MPZ MFN2
14 brachial plexus neuropathy 29.8 PMP22 MPZ GJB1
15 charcot-marie-tooth disease, axonal, type 2d 29.8 MPZ MFN2 GJB1
16 charcot-marie-tooth disease, type 4j 29.8 MTMR2 MPZ GJB1
17 charcot-marie-tooth disease intermediate type 29.7 MTMR2 MPZ MFN2 GJB1
18 neuropathy, hereditary motor and sensory, russe type 29.7 NDRG1 MTMR2
19 neuromyotonia and axonal neuropathy, autosomal recessive 29.7 MPZ MFN2 GJB1
20 guillain-barre syndrome 29.7 PMP22 MPZ
21 charcot-marie-tooth disease, demyelinating, type 1b 29.6 PRX PMP22 MTMR2 MPZ MFN2 GJB1
22 demyelinating polyneuropathy 29.6 PMP22 MPZ MAG GJB1
23 hereditary motor and sensory neuropathy, type iic 29.5 MTMR2 MPZ MFN2 GJB1
24 charcot-marie-tooth disease, axonal, type 2f 29.5 MTMR2 MPZ MFN2 GJB1
25 charcot-marie-tooth disease, axonal, type 2b 29.5 MTMR2 MPZ MFN2 GJB1
26 neuropathy 29.5 PRX PMP22 NDRG1 MTMR2 MPZ MFN2
27 friedreich ataxia 29.5 MPZ MFN2 GJB1
28 charcot-marie-tooth disease, type 4a 29.5 PRX MTMR2 MPZ MFN2 GJB1
29 charcot-marie-tooth disease, type 4d 29.4 NDRG1 MTMR2 MPZ GJB1
30 asymmetric motor neuropathy 29.4 PMP22 MFN2 MAG
31 charcot-marie-tooth disease, type 4c 29.4 NDRG1 MTMR2 MPZ MFN2 GJB1
32 mononeuropathy 29.4 PMP22 MPZ MAG GJB1
33 polyneuropathy 29.4 PRX PMP22 NDRG1 MPZ MAG GJB1
34 demyelinating disease 29.3 PLP1 MPZ MAG
35 tooth disease 29.3 PRX PMP22 NDRG1 MTMR2 MPZ MFN2
36 charcot-marie-tooth disease, demyelinating, type 1c 29.3 PRX PMP22 MTMR2 MPZ GJB1
37 charcot-marie-tooth disease, demyelinating, type 1a 29.3 PRX PMP22 MTMR2 MPZ MFN2 MAG
38 neuropathy, hereditary, with liability to pressure palsies 29.1 PRX PMP22 NDRG1 MTMR2 MPZ MFN2
39 neuropathy, congenital hypomyelinating, 1, autosomal recessive 29.0 PRX PMP22 NDRG1 MTMR2 MPZ MFN2
40 charcot-marie-tooth disease, axonal, type 2e 29.0 PRX PMP22 NDRG1 MTMR2 MPZ MFN2
41 sensory peripheral neuropathy 28.9 PRX PMP22 NDRG1 MTMR2 MPZ MFN2
42 hereditary spastic paraplegia 28.9 PLP1 MPZ MFN2 MAG GJB1
43 charcot-marie-tooth disease, type 4b2 28.8 PRX NDRG1 MTMR2 MPZ MFN2 GJB1
44 peripheral nervous system disease 28.7 PRX PMP22 MTMR2 MPZ MFN2 MAG
45 hypertrophic neuropathy of dejerine-sottas 28.6 PRX PMP22 NDRG1 MTMR2 MPZ MFN2
46 pelizaeus-merzbacher disease 28.6 PMP22 PLP1 MPZ MAG GJB1
47 charcot-marie-tooth disease 28.3 PRX PMP22 PLP1 NDRG1 MTMR2 MPZ
48 charcot-marie-tooth disease and deafness 28.2 PRX PMP22 PLP1 NDRG1 MTMR2 MPZ
49 neuromuscular disease 27.8 PRX PMP22 NDRG1 MTMR2 MPZ MFN2
50 mononeuropathy of the median nerve, mild 11.0

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:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased gamma-H2AX phosphorylation GR00053-A 9.17 GJB1 LMNA MAG MPZ NDRG1 PMP22

MGI Mouse Phenotypes related to Hereditary Neuropathies:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.06 GJB1 LMNA MAG MFN2 MPZ MTMR2
2 growth/size/body region MP:0005378 9.81 GJB1 LMNA MFN2 MTMR2 NDRG1 PLP1
3 behavior/neurological MP:0005386 9.7 GJB1 LMNA MAG MFN2 MPZ MTMR2
4 hearing/vestibular/ear MP:0005377 9.65 LMNA MAG PLP1 PMP22 RAG1
5 mortality/aging MP:0010768 9.28 GJB1 LMNA MFN2 MPZ MTMR2 NDRG1

Drugs & Therapeutics for Hereditary Neuropathies

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sorbitol Approved, Investigational Phase 2, Phase 3 69-65-8, 50-70-4 453 6251 5780

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A RandomIzed, Double-Blind, Placebo-CoNtrolled, Two-Part Study to Evaluate the Pharmacodynamic EffIcacy and Clinical Benefit of AT 007 in Patients With SoRbitol Dehydrogenase (SORD) DEficiency Recruiting NCT05397665 Phase 2, Phase 3 AT-007;Placebo
2 A Phase II, Randomized, Placebo-controlled Trial of the Safety, Efficacy, Pharmacodynamics and Pharmacokinetics of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1A. Completed NCT01401257 Phase 2 PXT3003 Low dose;PXT3003 Intermediate Dose;PXT3003 High Dose
3 A Clinical Trial to Assess the Safety of a Novel Scaffold Biomaterial Enrolling by invitation NCT03584022
4 Study of Gait and Posture in Subacute Acquired Neuropathies and in Hereditary Neuropathies Not yet recruiting NCT04154540

Search NIH Clinical Center for Hereditary Neuropathies

Genetic Tests for Hereditary Neuropathies

Anatomical Context for Hereditary Neuropathies

Organs/tissues related to Hereditary Neuropathies:

MalaCards : Spinal Cord, Skeletal Muscle, Bone Marrow, Skin, Liver, Bone, Breast

Publications for Hereditary Neuropathies

Articles related to Hereditary Neuropathies:

(show top 50) (show all 1057)
# 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. 53 62
20187762 2010
2
Peripheral myelin protein 22 is regulated post-transcriptionally by miRNA-29a. 53 62
19170179 2009
3
PMP22 expression in dermal nerve myelin from patients with CMT1A. 53 62
19447823 2009
4
Hereditary neuropathy with liability to pressure palsies and amyotrophic lateral sclerosis. 53 62
19238316 2009
5
Entrapment in anti myelin-associated glycoprotein neuropathy. 53 62
19306083 2009
6
A laminin-2, dystroglycan, utrophin axis is required for compartmentalization and elongation of myelin segments. 53 62
19321787 2009
7
A newly identified Thr99fsX110 mutation in the PMP22 gene associated with an atypical phenotype of the hereditary neuropathy with liability to pressure palsies. 53 62
19830275 2009
8
[Ultrastructural lesions of axonal mitochondria in patients with childhood-onset Charcot-Marie-Tooth disease due to MFN2 mutations]. 53 62
19718987 2009
9
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
10
Pharmacological induction of the heat shock response improves myelination in a neuropathic model. 53 62
18655835 2008
11
Compound heterozygous deletions of PMP22 causing severe Charcot-Marie-Tooth disease of the Dejerine-Sottas disease phenotype. 53 62
18698610 2008
12
A new single-nucleotide deletion of PMP22 in an HNPP family without recurrent palsies. 53 62
18642376 2008
13
Hereditary neuropathy with liability to pressure palsies in a Turkish patient (HNPP): a rare cause of entrapment neuropathies in young adults. 53 62
18382985 2008
14
A novel point mutation in PMP22 gene in an Italian family with hereditary neuropathy with liability to pressure palsies. 53 62
17707409 2007
15
Stoichiometric alteration of PMP22 protein determines the phenotype of hereditary neuropathy with liability to pressure palsies. 53 62
17620487 2007
16
Phenotype of Charcot-Marie-Tooth disease Type 2. 53 62
17502546 2007
17
The formation of peripheral myelin protein 22 aggregates is hindered by the enhancement of autophagy and expression of cytoplasmic chaperones. 53 62
17174099 2007
18
Identification of Alu elements mediating a partial PMP22 deletion. 53 62
16570190 2006
19
Multi-level regulation of myotubularin-related protein-2 phosphatase activity by myotubularin-related protein-13/set-binding factor-2. 53 62
16399794 2006
20
A rapid and reliable detection system for the analysis of PMP22 gene dosage by MP/DHPLC assay. 53 62
16463004 2006
21
Left ventricular hypertrabeculation/noncompaction with PMP22 duplication-based Charcot-Marie-Tooth disease type 1A. 53 62
16449811 2006
22
Double trouble in hereditary neuropathy: concomitant mutations in the PMP-22 gene and another gene produce novel phenotypes. 53 62
16401743 2006
23
Central nervous system involvement in hereditary neuropathy with liability to pressure palsies: description of a large family with this association. 53 62
16344349 2005
24
Recurrent polyradiculoneuropathy and PMP22 defects. 53 62
16323394 2005
25
Detection of genomic rearrangements by DHPLC: a prospective study of 90 patients with inherited peripheral neuropathies associated with 17p11.2 rearrangements. 53 62
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. 53 62
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. 53 62
15988805 2005
28
Skin biopsies in myelin-related neuropathies: bringing molecular pathology to the bedside. 53 62
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. 53 62
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. 53 62
15564036 2004
31
A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes. 53 62
15205993 2004
32
Loss-of-function phenotype of hereditary neuropathy with liability to pressure palsies. 53 62
14755484 2004
33
Distinct elements of the peripheral myelin protein 22 (PMP22) promoter regulate expression in Schwann cells and sensory neurons. 53 62
14664827 2003
34
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. 53 62
14502374 2003
35
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. 53 62
14555828 2003
36
Phenotypic differences between peripheral myelin protein-22 (PMP22) and myelin protein zero (P0) mutations associated with Charcot-Marie-Tooth-related diseases. 53 62
12901701 2003
37
Hereditary neuropathy with liability to pressure palsies in infancy. 53 62
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. 53 62
12885335 2003
39
Hereditary neuropathy with liability to pressure palsies with a small deletion interrupting the PMP22 gene. 53 62
12207933 2002
40
Charcot-Marie-Tooth neuropathy: clinical phenotypes of four novel mutations in the MPZ and Cx 32 genes. 53 62
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]. 53 62
12154515 2002
42
Hereditary neuropathy with liability to pressure palsies associated with central nervous system myelin lesions. 53 62
11784354 2001
43
Identification of a positive regulatory element in the myelin-specific promoter of the PMP22 gene. 53 62
11550219 2001
44
CNS myelination and PLP gene dosage. 53 62
11535114 2001
45
Transcriptional startpoints and methylation patterns in the PMP22 promoters of peripheral nerve, leukocytes and tumor cell lines. 53 62
11351283 2001
46
A novel 3'-splice site mutation in peripheral myelin protein 22 causing hereditary neuropathy with liability to pressure palsies. 53 62
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. 53 62
11335693 2001
48
[Hereditary neuropathy with pressure palsies]. 53 62
11255855 2001
49
[Molecular genetics of hereditary neuropathies]. 53 62
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. 53 62
11045666 2000

Variations for Hereditary Neuropathies

Expression for Hereditary Neuropathies

Search GEO for disease gene expression data for Hereditary Neuropathies.

Pathways for Hereditary Neuropathies

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 compact myelin GO:0043218 9.26 PMP22 MAG
2 myelin sheath GO:0043209 9.1 PLP1 MPZ MAG

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

# Name GO ID Score Top Affiliating Genes
1 peripheral nervous system myelin maintenance GO:0032287 9.56 PRX NDRG1
2 central nervous system myelination GO:0022010 9.5 PLP1 MAG
3 myelin assembly GO:0032288 9.46 PMP22 MTMR2
4 axon ensheathment GO:0008366 9.26 PRX PLP1
5 myelination GO:0042552 9.1 PMP22 PLP1 MTMR2 MPZ MAG

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

# Name GO ID Score Top Affiliating Genes
1 structural molecule activity GO:0005198 9.02 PLP1 MPZ LMNA

Sources for Hereditary Neuropathies

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
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