MCID: HRD088
MIFTS: 40

Hereditary Neuropathies

Categories: Rare diseases, Neuronal diseases, Immune diseases

Aliases & Classifications for Hereditary Neuropathies

MalaCards integrated aliases for Hereditary Neuropathies:

Name: Hereditary Neuropathies 50
Hereditary Neuropathy 51 69
Neuropathy - Hereditary 50

Classifications:



External Ids:

UMLS 69 C0598589

Summaries for Hereditary Neuropathies

NINDS : 50 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 breast, 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 89)
# Related Disease Score Top Affiliating Genes
1 hereditary neuropathy with liability to pressure palsy 34.1 MPZ PMP22
2 neuropathy, hereditary, with liability to pressure palsies 33.2 GJB1 MFN2 MPZ PMP22
3 neuropathy 31.0 GJB1 MFN2 MPZ PMP22 PRX
4 foot drop 30.3 MPZ PMP22
5 amyotrophic neuralgia 30.2 GJB1 PMP22 PRX
6 charcot-marie-tooth disease, demyelinating, type 1a 29.9 GJB1 MFN2 MPZ MTMR2 PMP22
7 chronic inflammatory demyelinating polyradiculoneuropathy 29.8 MBP MPZ PMP22
8 polyradiculoneuropathy 29.8 MBP MPZ PMP22
9 polyneuropathy 29.7 MAG MBP MPZ PMP22
10 tooth disease 28.6 GJB1 LMNA MFN2 MPZ MTMR2 NDRG1
11 charcot-marie-tooth disease 28.3 CDRT1 DNAJB2 GJB1 LMNA MBP MFN2
12 pelizaeus-merzbacher disease 28.3 MAG MBP MPZ PLP1 PMP22
13 neuropathy, hereditary motor and sensory, russe type 12.1
14 neuropathy, hereditary motor and sensory, okinawa type 12.1
15 neuropathy, hereditary motor and sensory, type via 12.1
16 neuropathy, hereditary sensory, type ie 12.1
17 neuropathy, hereditary sensory and autonomic, type iia 12.1
18 charcot-marie-tooth hereditary neuropathy 12.0
19 mononeuropathy of the median nerve, mild 11.1
20 neuropathy, hereditary, with or without age-related macular degeneration 10.8
21 tangier disease 10.8
22 charcot-marie-tooth disease, axonal, type 2f 10.5 GJB1 MPZ
23 charcot-marie-tooth disease, x-linked dominant, 1 10.4 GJB1 MPZ
24 charcot-marie-tooth neuropathy type 1 10.4 GJB1 MPZ PMP22
25 charcot-marie-tooth disease, demyelinating, type 1f 10.4 GJB1 MPZ PMP22
26 charcot-marie-tooth disease type 2a2 10.4 DNAJB2 MFN2
27 charcot-marie-tooth disease, axonal, type 2b 10.3 GJB1 MPZ PMP22
28 guillain-barre syndrome 10.3 MBP MPZ PMP22
29 charcot-marie-tooth disease, demyelinating, type 4f 10.3 MTMR2 PRX
30 charcot-marie-tooth disease, type 4b2 10.2 MTMR2 PRX
31 charcot-marie-tooth disease, type 4a 10.2 MTMR2 PRX
32 charcot-marie-tooth disease, type 4b1 10.2 MTMR2 PRX
33 charcot-marie-tooth disease, axonal, type 2b1 10.2 DNAJB2 LMNA
34 central pontine myelinolysis 10.1 MAG MBP
35 charcot-marie-tooth disease, type 4d 10.1 GJB1 MFN2 NDRG1
36 charcot-marie-tooth disease, demyelinating, type 1b 10.1 GJB1 MPZ MTMR2 PMP22
37 axonal neuropathy 10.1 LMNA MFN2 PMP22
38 epidermolysis bullosa simplex with muscular dystrophy 10.1 LMNA MFN2
39 allergic encephalomyelitis 10.0 MBP PLP1
40 mannosidosis, beta a, lysosomal 10.0 MAG MBP
41 hereditary motor and sensory neuropathy, type iic 10.0 GJB1 MFN2 MPZ NDRG1
42 pelizaeus-merzbacher-like disease 10.0 GJB1 PLP1
43 plexopathy 9.9
44 hallermann-streiff syndrome 9.9 GJB1 LMNA
45 spindle cell synovial sarcoma 9.9 MAG MBP
46 neuritis 9.9 MAG MBP MPZ PMP22
47 leukodystrophy, hypomyelinating, 2 9.9 GJB1 MBP PLP1
48 hypertrophic neuropathy of dejerine-sottas 9.9 GJB1 MPZ MTMR2 PMP22 PRX
49 lateral sclerosis 9.8
50 amyotrophic lateral sclerosis 1 9.8

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 9.28 FBXW10 GJB1 LMNA MAG MBP MPZ

MGI Mouse Phenotypes related to Hereditary Neuropathies:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.15 GJB1 LMNA MAG MBP MFN2 MPZ
2 cellular MP:0005384 9.97 GJB1 LMNA MBP MFN2 MPZ NDRG1
3 growth/size/body region MP:0005378 9.96 PMP22 PRX RAG1 GJB1 LMNA MBP
4 nervous system MP:0003631 9.73 MBP MFN2 MPZ MTMR2 NDRG1 PLP1
5 hearing/vestibular/ear MP:0005377 9.63 LMNA MAG MBP PLP1 PMP22 RAG1
6 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 Nutraceutical Phase 1, Phase 2
2
Menthol Approved 2216-51-5 16666

Interventional clinical trials:

(show all 11)

# 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 Patient Reported Outcomes Measures (PROM) in Carpal Tunnel Therapies in Patients With Inherited Neuropathies Completed NCT02788734
4 An Analysis of the Symptomatic Domains Most Relevant to Charcot Marie Tooth Neuropathy (CMT) Patients Completed NCT02429947
5 Survey of Current Management of Orthopaedic Complications in CMT Patients Completed NCT02001038
6 Development and Validation of a Disability Severity Index for CMT Completed NCT01455623
7 Disability Severity Scale (DSI) and Hereditary Motor and Sensory Neuropathy Overall Disability Scale (HMSN-R-ODS) Recruiting NCT02194010
8 BALTiC Study: A Feasibility Analysis of Home Based BALance Training in People With Charcot-Marie-Tooth Disease Recruiting NCT02982343
9 Genetic and Physical Study of Childhood Nerve and Muscle Disorders Recruiting NCT01568658
10 Electrical Impedance Myography: Exploratory Studies in Healthy People and People With Neuromuscular Disorders Recruiting NCT01900132
11 Effect of Orthoses and Underfoot Vibration on Balance in Neuropathy Not yet recruiting NCT03278093

Search NIH Clinical Center for Hereditary Neuropathies

Genetic Tests for Hereditary Neuropathies

Anatomical Context for Hereditary Neuropathies

MalaCards organs/tissues related to Hereditary Neuropathies:

38
Testes, Breast

Publications for Hereditary Neuropathies

Articles related to Hereditary Neuropathies:

(show top 50) (show all 266)
# Title Authors Year
1
Spinobulbar muscular atrophy combined with atypical hereditary neuropathy with liability to pressure palsy. ( 29137918 )
2018
2
Impairment of protein degradation and proteasome function in hereditary neuropathies. ( 29076578 )
2018
3
Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies. ( 28902413 )
2017
4
Pilot phenotype and natural history study of hereditary neuropathies caused by mutations in the HSPB1 gene. ( 27816334 )
2017
5
Intravenous Immunoglobulin in Treatment of Hereditary Neuropathy With Liability to Pressure Palsy. ( 28221308 )
2017
6
Acute Demyelinating Polyneuropathy as Presentation of Hereditary Neuropathy With Liability to Pressure Palsies in a Patient Who Exercised Regularly in the Army. ( 28538254 )
2017
7
Towards a functional pathology of hereditary neuropathies. ( 27896434 )
2017
8
Hereditary Neuropathies: Update 2017. ( 28597455 )
2017
9
Hereditary neuropathy with liability to pressure palsy in patients under 30 years old: Neurophysiological data and proposed electrodiagnostic criteria. ( 28407266 )
2017
10
Charcot-Marie-Tooth hereditary neuropathy revealed after administration of docetaxel in advanced breast cancer. ( 29067280 )
2017
11
Hereditary neuropathy with liability to pressure palsy (HNPP): report of a family with a new point mutation in PMP22 gene. ( 29078790 )
2017
12
Causally treatable, hereditary neuropathies in Fabry's disease, transthyretin-related familial amyloidosis, and Pompe's disease. ( 28295152 )
2017
13
Muscle training-induced bilateral brachial plexopathy in an adolescent with sporadic hereditary neuropathy with liability to pressure palsies. ( 28948078 )
2017
14
Characterisation of pain in people with hereditary neuropathy with liability to pressure palsy. ( 29079893 )
2017
15
The broad clinical spectrum of hereditary neuropathy with liability to pressure palsy (HNPP). ( 26982983 )
2016
16
Hereditary neuropathy with liability to pressure palsy presenting as a bilateral brachial plexopathy. ( 26874568 )
2016
17
Ultrasound pattern sum score, homogeneity score and regional nerve enlargement index for differentiation of demyelinating inflammatory and hereditary neuropathies. ( 27291881 )
2016
18
[Molecular genetic diagnosis and clinical features of hereditary neuropathy with liability to pressure palsies in Belarusian patients]. ( 26977628 )
2016
19
Clinical and Molecular Characterization of BSCL2 Mutations in a Taiwanese Cohort with Hereditary Neuropathy. ( 26815532 )
2016
20
Hereditary neuropathies: An update. ( 27866730 )
2016
21
Afferent Visual Pathway Affection in Patients with PMP22 Deletion-Related Hereditary Neuropathy with Liability to Pressure Palsies. ( 27749933 )
2016
22
Clinical and neurophysiological features of the hereditary neuropathy with liability to pressure palsy due to the 17p11.2 deletion. ( 26982985 )
2016
23
HSMNR belongs to the most frequent types of hereditary neuropathy in the Czech Republic and is twice more frequent than HMSNL. ( 26822750 )
2016
24
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
25
The modified ultrasound pattern sum score mUPSS as additional diagnostic tool for genetically distinct hereditary neuropathies. ( 26559821 )
2015
26
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
27
A patient with PMP22-related hereditary neuropathy and DBH-gene-related dysautonomia. ( 26410747 )
2015
28
Small Heat Shock Proteins and Distal Hereditary Neuropathies. ( 26878578 )
2015
29
An n-of-one RCT for intravenous immunoglobulin G for inflammation in hereditary neuropathy with liability to pressure palsy (HNPP). ( 26187721 )
2015
30
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
31
Mutational analysis of Greek patients with suspected hereditary neuropathy with liability to pressure palsies (HNPP): a 15-year experience. ( 26110377 )
2015
32
Partial Gene Deletions of PMP22 Causing Hereditary Neuropathy with Liability to Pressure Palsies. ( 25506001 )
2014
33
Characteristic features of hereditary neuropathy with liability to pressure palsy (HNPP) presenting with brachial plexopathy in soldiers. ( 25175852 )
2014
34
HSJ1-related hereditary neuropathies: Novel mutations and extended clinical spectrum. ( 25274842 )
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
Hereditary Neuropathy with Liability to Pressure Palsy Presenting as an Acute Brachial Plexopathy: A Lover's Palsy. ( 25685136 )
2014
38
Does hereditary neuropathy with liability to pressure palsy predispose to schwannomatosis? ( 25324890 )
2014
39
Axonal dysfunction, dysmyelination, and conduction failure in hereditary neuropathy with liability to pressure palsies. ( 24752454 )
2014
40
Ultrasonographic findings in hereditary neuropathy with liability to pressure palsies. ( 25005138 )
2014
41
Charcot-Marie-Tooth Disease and Related Hereditary Neuropathies: From Gene Function to Associated Phenotypes. ( 25323870 )
2014
42
Pain in hereditary neuropathy with liability to pressure palsy: An association with fibromyalgia syndrome? ( 25042093 )
2014
43
Clinical, electrophysiological, and molecular findings in early onset hereditary neuropathy with liability to pressure palsy. ( 24668782 )
2014
44
Sonographic evaluation of the peripheral nerves in hereditary neuropathy with liability to pressure palsies: a case report. ( 24639934 )
2014
45
PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies. ( 24646194 )
2014
46
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
47
Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) associated to hereditary neuropathy with liability to pressure palsies (HNPP) and revealed after influenza AH1N1 vaccination. ( 24146347 )
2013
48
Bell's palsy and hereditary neuropathy with liability to pressure palsy (HNPP): is there a common genetic background? ( 23635862 )
2013
49
Hereditary neuropathy with liability to pressure palsy: two cases of difficult diagnosis. ( 23965407 )
2013
50
Hereditary Neuropathy with Liability to Pressure Palsy: global neuropathy after tourniquet use. ( 24080438 )
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 9.67 DNAJB2 LMNA NDRG1 PMP22
2 chemical synaptic transmission GO:0007268 9.46 MBP MPZ PLP1 PMP22
3 cell-cell adhesion via plasma-membrane adhesion molecules GO:0098742 9.32 MAG MPZ
4 central nervous system myelination GO:0022010 9.26 MAG PLP1
5 myelination GO:0042552 9.26 MBP MPZ PLP1 PMP22
6 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 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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