MCID: HRD088
MIFTS: 39

Hereditary Neuropathies

Categories: Neuronal diseases, Immune diseases, Rare diseases

Aliases & Classifications for Hereditary Neuropathies

MalaCards integrated aliases for Hereditary Neuropathies:

Name: Hereditary Neuropathies 54
Hereditary Neuropathy 55 73
Neuropathy - Hereditary 54

Classifications:



External Ids:

UMLS 73 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 hereditary neuropathy with liability to pressure palsy 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 Serine and Menthol have been mentioned in the context of this disorder. Affiliated tissues include testes, and related phenotypes are Increased gamma-H2AX phosphorylation and behavior/neurological

Related Diseases for Hereditary Neuropathies

Diseases in the Neuropathy family:

Autoimmune Neuropathy Hereditary Type 1 Neuropathy
Hereditary Type 2 Neuropathy Hereditary Neuropathies

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

(show top 50) (show all 88)
# Related Disease Score Top Affiliating Genes
1 hereditary neuropathy with liability to pressure palsy 34.7 MPZ PMP22
2 neuropathy, hereditary, with liability to pressure palsies 33.4 GJB1 MFN2 MPZ PMP22
3 neuropathy 31.1 GJB1 MFN2 MPZ PMP22 PRX
4 foot drop 30.8 MPZ PMP22
5 amyotrophic neuralgia 30.5 GJB1 PMP22 PRX
6 brachial plexus neuropathy 30.4 GJB1 PMP22
7 chronic inflammatory demyelinating polyradiculoneuropathy 30.2 MPZ PMP22
8 polyneuropathy 29.6 MAG MBP MPZ PMP22
9 polyradiculoneuropathy 29.2 MAG MBP MPZ PMP22
10 peripheral nervous system disease 28.0 GJB1 MAG MFN2 MPZ MTMR2 PMP22
11 pelizaeus-merzbacher disease 27.7 MAG MBP MPZ PLP1 PMP22
12 tooth disease 27.3 GJB1 HSPB1 LMNA MFN2 MPZ MTMR2
13 charcot-marie-tooth disease 24.7 CDRT1 DNAJB2 GJB1 HSPB1 LMNA MAG
14 neuropathy, hereditary motor and sensory, russe type 12.1
15 neuropathy, hereditary motor and sensory, okinawa type 12.1
16 neuropathy, hereditary sensory, type ie 12.1
17 neuropathy, hereditary motor and sensory, type via 12.1
18 charcot-marie-tooth hereditary neuropathy 12.0
19 mononeuropathy of the median nerve, mild 11.1
20 roussy-levy hereditary areflexic dystasia 10.8 MPZ PMP22
21 charcot-marie-tooth disease, demyelinating, type 1c 10.8 MPZ PMP22
22 tangier disease 10.8
23 neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive 10.8
24 neuropathy, hereditary, with or without age-related macular degeneration 10.8
25 charcot-marie-tooth disease, x-linked dominant, 1 10.7 GJB1 MPZ
26 charcot-marie-tooth neuropathy type 1 10.6 GJB1 MPZ PMP22
27 congenital hypomyelination neuropathy 10.6 MBP MPZ PMP22
28 charcot-marie-tooth disease, demyelinating, type 1f 10.6 GJB1 MPZ PMP22
29 charcot-marie-tooth disease, axonal, type 2b 10.6 GJB1 MPZ PMP22
30 charcot-marie-tooth disease type 2a2 10.6 DNAJB2 MFN2
31 guillain-barre syndrome 10.6 MBP MPZ PMP22
32 anterior spinal artery syndrome 10.5 HSPB1 MBP
33 charcot-marie-tooth disease, axonal, type 2f 10.5 GJB1 HSPB1 MPZ
34 charcot-marie-tooth disease, demyelinating, type 4f 10.5 MTMR2 PRX
35 charcot-marie-tooth disease, type 4b2 10.4 MTMR2 PRX
36 charcot-marie-tooth disease, type 4b1 10.3 MTMR2 PRX
37 charcot-marie-tooth disease, type 4a 10.3 MTMR2 PRX
38 charcot-marie-tooth disease, axonal, type 2l 10.3 HSPB1 MPZ
39 charcot-marie-tooth disease, axonal, type 2b1 10.3 DNAJB2 LMNA
40 central pontine myelinolysis 10.3 MAG MBP
41 charcot-marie-tooth disease, type 4d 10.2 GJB1 MFN2 NDRG1
42 charcot-marie-tooth disease, demyelinating, type 1b 10.2 GJB1 MPZ MTMR2 PMP22
43 axonal neuropathy 10.2 LMNA MFN2 PMP22
44 allergic encephalomyelitis 10.1 MBP PLP1
45 hereditary motor and sensory neuropathy, type iic 10.0 GJB1 MFN2 MPZ NDRG1
46 pelizaeus-merzbacher-like disease 10.0 GJB1 PLP1
47 mannosidosis, beta a, lysosomal 10.0 MAG MBP
48 plexopathy 9.9
49 neuritis 9.9 MAG MBP MPZ PMP22
50 hypertrophic neuropathy of dejerine-sottas 9.9 GJB1 MPZ MTMR2 PMP22 PRX

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 10.23 GJB1 LMNA MAG MBP MFN2 MPZ
2 growth/size/body region MP:0005378 10.14 GJB1 HSPB1 LMNA MBP MFN2 MTMR2
3 cellular MP:0005384 10.13 GJB1 HSPB1 LMNA MBP MFN2 MPZ
4 homeostasis/metabolism MP:0005376 10 GJB1 HSPB1 LMNA MAG MBP MFN2
5 hematopoietic system MP:0005397 9.97 GJB1 HSPB1 LMNA MAG MBP MPZ
6 hearing/vestibular/ear MP:0005377 9.85 PLP1 PMP22 RAG1 LMNA MAG MBP
7 immune system MP:0005387 9.81 NDRG1 PLP1 RAG1 GJB1 HSPB1 LMNA
8 nervous system MP:0003631 9.73 GJB1 LMNA MAG MBP MFN2 MPZ
9 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):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Serine Approved, Nutraceutical Phase 1, Phase 2 56-45-1 5951
2
Menthol Approved Not Applicable 2216-51-5 16666

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 L-Serine Supplementation in Hereditary Sensory Neuropathy Type 1 Completed NCT01733407 Phase 1, Phase 2 L-serine;placebo
2 Phase II, Randomized, Placebo-controlled Trial in Patients With Charcot-marie-tooth Disease Type 1A Completed NCT01401257 Phase 2 PXT3003 Low dose;PXT3003 Intermediate Dose;PXT3003 High Dose
3 Phase I/IIa Trial of scAAV1.tMCK.NTF3 for Treatment of CMT1A Recruiting NCT03520751 Phase 1, Phase 2 scAAV1.tMCK.NTF3
4 Patient Reported Outcomes Measures (PROM) in Carpal Tunnel Therapies in Patients With Inherited Neuropathies Completed NCT02788734
5 An Analysis of the Symptomatic Domains Most Relevant to Charcot Marie Tooth Neuropathy (CMT) Patients Completed NCT02429947
6 BALTiC Study: A Feasibility Analysis of Home Based BALance Training in People With Charcot-Marie-Tooth Disease Completed NCT02982343 Not Applicable
7 Survey of Current Management of Orthopaedic Complications in CMT Patients Completed NCT02001038
8 Development and Validation of a Disability Severity Index for CMT Completed NCT01455623
9 Effect of Orthoses and Underfoot Vibration on Balance in Neuropathy Recruiting NCT03278093
10 Disability Severity Scale (DSI) and Hereditary Motor and Sensory Neuropathy Overall Disability Scale (HMSN-R-ODS) Recruiting NCT02194010
11 Genetic and Physical Study of Childhood Nerve and Muscle Disorders Recruiting NCT01568658
12 Electrical Impedance Myography: Exploratory Studies in Healthy People and People With Neuromuscular Disorders Recruiting NCT01900132
13 Muscle MRI in Charcot Mary Tooth Disease: a Prospective Cohort Study Not yet recruiting NCT03550300

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

Publications for Hereditary Neuropathies

Articles related to Hereditary Neuropathies:

(show top 50) (show all 269)
# Title Authors Year
1
Different nerve ultrasound patterns in charcot-marie-tooth types and hereditary neuropathy with liability to pressure palsies. ( 28802056 )
2018
2
Spinobulbar muscular atrophy combined with atypical hereditary neuropathy with liability to pressure palsy. ( 29137918 )
2018
3
Impairment of protein degradation and proteasome function in hereditary neuropathies. ( 29076578 )
2018
4
Hereditary Neuropathies. ( 29478438 )
2018
5
Causally treatable, hereditary neuropathies in Fabry's disease, transthyretin-related familial amyloidosis, and Pompe's disease. ( 28295152 )
2017
6
Muscle training-induced bilateral brachial plexopathy in an adolescent with sporadic hereditary neuropathy with liability to pressure palsies. ( 28948078 )
2017
7
Towards a functional pathology of hereditary neuropathies. ( 27896434 )
2017
8
Pilot phenotype and natural history study of hereditary neuropathies caused by mutations in the HSPB1 gene. ( 27816334 )
2017
9
Hereditary neuropathy with liability to pressure palsy in patients under 30 years old: Neurophysiological data and proposed electrodiagnostic criteria. ( 28407266 )
2017
10
Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies. ( 28902413 )
2017
11
Intravenous Immunoglobulin in Treatment of Hereditary Neuropathy With Liability to Pressure Palsy. ( 28221308 )
2017
12
Hereditary neuropathy with liability to pressure palsy (HNPP): report of a family with a new point mutation in PMP22 gene. ( 29078790 )
2017
13
Hereditary Neuropathies: Update 2017. ( 28597455 )
2017
14
Characterisation of pain in people with hereditary neuropathy with liability to pressure palsy. ( 29079893 )
2017
15
Acute Demyelinating Polyneuropathy as Presentation of Hereditary Neuropathy With Liability to Pressure Palsies in a Patient Who Exercised Regularly in the Army. ( 28538254 )
2017
16
Charcot-Marie-Tooth hereditary neuropathy revealed after administration of docetaxel in advanced breast cancer. ( 29067280 )
2017
17
Afferent Visual Pathway Affection in Patients with PMP22 Deletion-Related Hereditary Neuropathy with Liability to Pressure Palsies. ( 27749933 )
2016
18
Clinical and neurophysiological features of the hereditary neuropathy with liability to pressure palsy due to the 17p11.2 deletion. ( 26982985 )
2016
19
Compression of Root Level in a Patient with Hereditary Neuropathy with Liability to Pressure Palsy Diagnosed by Magnetic Resonance Imaging: A Case Report. ( 27149588 )
2016
20
Clinical and Molecular Characterization of BSCL2 Mutations in a Taiwanese Cohort with Hereditary Neuropathy. ( 26815532 )
2016
21
HSMNR belongs to the most frequent types of hereditary neuropathy in the Czech Republic and is twice more frequent than HMSNL. ( 26822750 )
2016
22
Ultrasound pattern sum score, homogeneity score and regional nerve enlargement index for differentiation of demyelinating inflammatory and hereditary neuropathies. ( 27291881 )
2016
23
Hereditary neuropathy with liability to pressure palsy presenting as a bilateral brachial plexopathy. ( 26874568 )
2016
24
[Molecular genetic diagnosis and clinical features of hereditary neuropathy with liability to pressure palsies in Belarusian patients]. ( 26977628 )
2016
25
Hereditary neuropathies: An update. ( 27866730 )
2016
26
The broad clinical spectrum of hereditary neuropathy with liability to pressure palsy (HNPP). ( 26982983 )
2016
27
An n-of-one RCT for intravenous immunoglobulin G for inflammation in hereditary neuropathy with liability to pressure palsy (HNPP). ( 26187721 )
2015
28
A patient with PMP22-related hereditary neuropathy and DBH-gene-related dysautonomia. ( 26410747 )
2015
29
Small Heat Shock Proteins and Distal Hereditary Neuropathies. ( 26878578 )
2015
30
Mutational analysis of Greek patients with suspected hereditary neuropathy with liability to pressure palsies (HNPP): a 15-year experience. ( 26110377 )
2015
31
The modified ultrasound pattern sum score mUPSS as additional diagnostic tool for genetically distinct hereditary neuropathies. ( 26559821 )
2015
32
Mutations in HINT1 are one of the most frequent causes of hereditary neuropathy among Czech patients and neuromyotonia is rather an underdiagnosed symptom. ( 25342199 )
2015
33
Proximal arm weakness is the most common presentation in young Korean soldiers diagnosed as having hereditary neuropathy with liability to pressure palsy (HNPP). ( 26462743 )
2015
34
Ultrasonographic findings in hereditary neuropathy with liability to pressure palsies. ( 25005138 )
2014
35
Hereditary neuropathy with liability to pressure palsies presenting with sciatic neuropathy. ( 25326571 )
2014
36
Clinical, electrophysiological and magnetic resonance findings in a family with hereditary neuropathy with liability to pressure palsies caused by a novel PMP22 mutation. ( 24239057 )
2014
37
Characteristic features of hereditary neuropathy with liability to pressure palsy (HNPP) presenting with brachial plexopathy in soldiers. ( 25175852 )
2014
38
PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies. ( 24646194 )
2014
39
Charcot-Marie-Tooth Disease and Related Hereditary Neuropathies: From Gene Function to Associated Phenotypes. ( 25323870 )
2014
40
Hereditary Neuropathy with Liability to Pressure Palsy Presenting as an Acute Brachial Plexopathy: A Lover's Palsy. ( 25685136 )
2014
41
Pain in hereditary neuropathy with liability to pressure palsy: An association with fibromyalgia syndrome? ( 25042093 )
2014
42
Axonal dysfunction, dysmyelination, and conduction failure in hereditary neuropathy with liability to pressure palsies. ( 24752454 )
2014
43
Does hereditary neuropathy with liability to pressure palsy predispose to schwannomatosis? ( 25324890 )
2014
44
Sonographic evaluation of the peripheral nerves in hereditary neuropathy with liability to pressure palsies: a case report. ( 24639934 )
2014
45
Overlap Phenotype between CMT1A and Hereditary Neuropathy with Liability to Pressure Palsies Caused by the Novel Small In-frame Deletion c.407_418del12 in PMP22 Gene. ( 25265422 )
2014
46
Clinical, electrophysiological, and molecular findings in early onset hereditary neuropathy with liability to pressure palsy. ( 24668782 )
2014
47
HSJ1-related hereditary neuropathies: Novel mutations and extended clinical spectrum. ( 25274842 )
2014
48
Partial Gene Deletions of PMP22 Causing Hereditary Neuropathy with Liability to Pressure Palsies. ( 25506001 )
2014
49
Hereditary neuropathy with liability to pressure palsy: a recurrent and bilateral foot drop case report. ( 24251057 )
2013
50
Hereditary neuropathy with liability to pressure palsy: fulminant radicular dysfunction during anterolateral lumbar interbody fusion. ( 23881104 )
2013

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 GJB1 MBP MPZ PMP22
2 9.7 MAG MBP PLP1

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 myelin sheath GO:0043209 9.35 MAG MBP MPZ NDRG1 PLP1
2 microtubule cytoskeleton GO:0015630 9.33 KIF2B MFN2 NDRG1
3 compact myelin GO:0043218 8.8 MAG MBP PMP22

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 9.73 DNAJB2 LMNA NDRG1 PMP22
2 chemical synaptic transmission GO:0007268 9.67 MBP MPZ PLP1 PMP22
3 cell-cell adhesion via plasma-membrane adhesion molecules GO:0098742 9.4 MAG MPZ
4 response to unfolded protein GO:0006986 9.33 DNAJB2 HSPB1 MFN2
5 central nervous system myelination GO:0022010 9.32 MAG PLP1
6 peripheral nervous system myelin maintenance GO:0032287 9.26 NDRG1 PRX
7 myelination GO:0042552 9.26 MBP MPZ PLP1 PMP22
8 axon ensheathment GO:0008366 8.8 MBP PLP1 PRX

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 GJB1 HSPB1 MAG MTMR2 RAG1
2 structural constituent of myelin sheath GO:0019911 8.62 MBP PLP1

Sources for Hereditary Neuropathies

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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