MCID: NRP062
MIFTS: 31

Neuropathy - Hereditary

Categories: Immune diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Neuropathy - Hereditary

MalaCards integrated aliases for Neuropathy - Hereditary:

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

Classifications:



Summaries for Neuropathy - Hereditary

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 : Neuropathy - Hereditary, also known as hereditary neuropathies, is related to neuropathy, hereditary sensory, type ie and neuropathy, hereditary, with liability to pressure palsies. An important gene associated with Neuropathy - Hereditary is DNMT1 (DNA Methyltransferase 1), and among its related pathways/superpathways is Neural Crest Differentiation. Affiliated tissues include testes and brain, and related phenotypes are behavior/neurological and nervous system

Related Diseases for Neuropathy - Hereditary

Diseases in the Neuropathy family:

Autoimmune Neuropathy Hereditary Type 1 Neuropathy
Hereditary Type 2 Neuropathy Neuropathy - Hereditary

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

(show top 50) (show all 162)
# Related Disease Score Top Affiliating Genes
1 neuropathy, hereditary sensory, type ie 33.4 DNMT1 SPTLC1
2 neuropathy, hereditary, with liability to pressure palsies 33.2 MPZ PMP22
3 charcot-marie-tooth hereditary neuropathy 33.1 MPZ PMP22
4 hereditary sensory neuropathy 32.3 DNMT1 SPTLC1
5 neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive 32.1 MPZ PMP22
6 charcot-marie-tooth disease, demyelinating, type 1c 31.9 MPZ PMP22
7 charcot-marie-tooth disease 31.7 MPZ PMP22 SPTLC1
8 motor peripheral neuropathy 31.6 MPZ PMP22
9 sensory peripheral neuropathy 31.4 MPZ PMP22 SPTLC1
10 tooth disease 30.3 MPZ PMP22
11 autonomic neuropathy 30.2 DST SPTLC1
12 charcot-marie-tooth disease, demyelinating, type 1f 30.0 MPZ PMP22
13 charcot-marie-tooth disease, axonal, type 2d 29.9 MPZ PMP22
14 charcot-marie-tooth disease, x-linked dominant, 1 29.9 MPZ PMP22
15 charcot-marie-tooth disease, demyelinating, type 1b 29.9 MPZ PMP22
16 charcot-marie-tooth disease, demyelinating, type 1a 29.9 MPZ PMP22
17 charcot-marie-tooth disease, demyelinating, type 1d 29.9 MPZ PMP22
18 charcot-marie-tooth disease and deafness 29.9 MPZ PMP22
19 roussy-levy hereditary areflexic dystasia 29.7 MPZ PMP22
20 polyneuropathy 29.7 MPZ PMP22
21 charcot-marie-tooth disease, axonal, type 2b 29.7 MPZ PMP22 SPTLC1
22 foot drop 29.6 MPZ PMP22
23 hypertrophic neuropathy of dejerine-sottas 29.6 MPZ PMP22
24 charcot-marie-tooth disease, axonal, type 2e 29.6 MPZ PMP22
25 neuropathy 29.5 DNMT1 DST MPZ PMP22 SCN11A SPTLC1
26 peripheral nervous system disease 29.4 MPZ PMP22 SPTLC1
27 chronic inflammatory demyelinating polyradiculoneuropathy 29.4 MPZ PMP22
28 polyradiculoneuropathy 29.4 MPZ PMP22
29 pelizaeus-merzbacher disease 29.3 MPZ PMP22
30 neuropathy, hereditary motor and sensory, russe type 12.3
31 neuropathy, hereditary motor and sensory, okinawa type 12.3
32 neuropathy, hereditary motor and sensory, type via 12.3
33 neuropathy, hereditary sensory and autonomic, type iia 12.2
34 neuropathy, hereditary, with or without age-related macular degeneration 12.2
35 neuropathy, hereditary sensory and autonomic, type ic 12.2
36 neuropathy, hereditary sensory and autonomic, type ia 12.2
37 neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive 12.2
38 neuropathy, hereditary sensory and autonomic, type vi 12.2
39 neuropathy, hereditary sensory and autonomic, type vii 12.2
40 neuropathy, hereditary motor and sensory, type vib 12.2
41 neuropathy, hereditary sensory and autonomic, type v 12.1
42 neuropathy, hereditary sensory and autonomic, type iib 12.1
43 neuropathy, hereditary sensory, type id 12.1
44 neuropathy, hereditary sensory, type iic 12.1
45 neuropathy, hereditary sensory and autonomic, type viii 12.1
46 neuropathy, hereditary sensory and autonomic, type iii 12.1
47 neuropathy, hereditary sensory, type if 12.1
48 neuropathy, hereditary thermosensitive 12.0
49 neuropathy, hereditary sensory and autonomic, type i, with cough and gastroesophageal reflux 12.0
50 neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers 12.0

Graphical network of the top 20 diseases related to Neuropathy - Hereditary:



Diseases related to Neuropathy - Hereditary

Symptoms & Phenotypes for Neuropathy - Hereditary

MGI Mouse Phenotypes related to Neuropathy - Hereditary:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.35 DNMT1 MPZ PMP22 SCN11A SPTLC1
2 nervous system MP:0003631 9.02 DNMT1 MPZ PMP22 SCN11A SPTLC1

Drugs & Therapeutics for Neuropathy - Hereditary

Search Clinical Trials , NIH Clinical Center for Neuropathy - Hereditary

Genetic Tests for Neuropathy - Hereditary

Anatomical Context for Neuropathy - Hereditary

MalaCards organs/tissues related to Neuropathy - Hereditary:

41
Testes, Brain

Publications for Neuropathy - Hereditary

Articles related to Neuropathy - Hereditary:

(show all 46)
# Title Authors Year
1
Impairment of protein degradation and proteasome function in hereditary neuropathies. ( 29076578 )
2018
2
Hereditary Neuropathies. ( 29478438 )
2018
3
Causally treatable, hereditary neuropathies in Fabry's disease, transthyretin-related familial amyloidosis, and Pompe's disease. ( 28295152 )
2017
4
Towards a functional pathology of hereditary neuropathies. ( 27896434 )
2017
5
Pilot phenotype and natural history study of hereditary neuropathies caused by mutations in the HSPB1 gene. ( 27816334 )
2017
6
Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies. ( 28902413 )
2017
7
Hereditary Neuropathies: Update 2017. ( 28597455 )
2017
8
Ultrasound pattern sum score, homogeneity score and regional nerve enlargement index for differentiation of demyelinating inflammatory and hereditary neuropathies. ( 27291881 )
2016
9
Hereditary neuropathies: An update. ( 27866730 )
2016
10
Small Heat Shock Proteins and Distal Hereditary Neuropathies. ( 26878578 )
2015
11
The modified ultrasound pattern sum score mUPSS as additional diagnostic tool for genetically distinct hereditary neuropathies. ( 26559821 )
2015
12
Charcot-Marie-Tooth Disease and Related Hereditary Neuropathies: From Gene Function to Associated Phenotypes. ( 25323870 )
2014
13
HSJ1-related hereditary neuropathies: Novel mutations and extended clinical spectrum. ( 25274842 )
2014
14
DNA testing in hereditary neuropathies. ( 23931782 )
2013
15
Genetic spectrum of hereditary neuropathies with onset in the first year of life. ( 21840889 )
2011
16
Pes cavus and hereditary neuropathies: when a relationship should be suspected. ( 20963465 )
2010
17
Correlation between muscle atrophy on MRI and manual strength testing in hereditary neuropathies. ( 20399669 )
2010
18
Experimental therapeutics in hereditary neuropathies: the past, the present, and the future. ( 19019301 )
2008
19
Hereditary neuropathies. ( 17885442 )
2007
20
Dispersion of compound muscle action potential in hereditary neuropathies and chronic inflammatory demyelinating polyneuropathy. ( 16823858 )
2006
21
Role of integrins in peripheral nerves and hereditary neuropathies. ( 16775376 )
2006
22
Laminins and their receptors in Schwann cells and hereditary neuropathies. ( 15958125 )
2005
23
Hereditary neuropathies. ( 15937733 )
2005
24
Diagnosis of hereditary neuropathies in adult patients. ( 12574944 )
2003
25
Hereditary neuropathies. ( 19078724 )
2003
26
Hereditary neuropathies. ( 14501846 )
2003
27
[Clinical aspects and diagnostic and therapeutic approaches to motor and sensory hereditary neuropathies (NHMS)]. ( 12235586 )
2002
28
Molecular basis of hereditary neuropathies. ( 11908222 )
2002
29
[Molecular genetics of hereditary neuropathies]. ( 11299480 )
2001
30
Molecular basis of hereditary neuropathies. ( 11345007 )
2001
31
[Principal peripheral myelin proteins: functions and anomalies in hereditary neuropathies]. ( 11033526 )
2000
32
Molecular genetics of hereditary neuropathies. ( 10223854 )
1999
33
Hereditary neuropathies in childhood: morphologic hallmarks and pathophysiologic mechanisms. ( 10223855 )
1999
34
Nerve Conduction Abnormalities and Neuromyotonia in Genetically Engineered Mouse Models of Human Hereditary Neuropathies. ( 29086933 )
1999
35
Nerve conduction abnormalities and neuromyotonia in genetically engineered mouse models of human hereditary neuropathies. ( 10586256 )
1999
36
Connexin32 in hereditary neuropathies. ( 10635032 )
1999
37
[The involvement of myelin proteins in hereditary neuropathies]. ( 10226313 )
1999
38
Hereditary neuropathies in children: the contribution of the new genetics. ( 8795847 )
1996
39
Functional abnormalities in P0-deficient mice resemble human hereditary neuropathies linked to P0 gene mutations. ( 8756159 )
1996
40
The association of hereditary neuropathies and heritable skeletal disorders. ( 7784290 )
1995
41
Single test for two hereditary neuropathies, CMT1A and HNPP. ( 7586531 )
1995
42
Demyelinating hereditary neuropathies in children: a morphometric and ultrastructural study. ( 7756749 )
1995
43
Mitochondrial abnormalities in human sural nerves: fine structural evaluation of cases with mitochondrial myopathy, hereditary and non-hereditary neuropathies, and review of the literature. ( 1785260 )
1991
44
Pure axonal neuropathy: nerve xenografts and clinicopathological study of a family with peripheral neuropathy, hereditary ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain. ( 6252824 )
1980
45
Heredofamilial branchial plexus neuropathy (hereditary neuralgic amyotrophy with branchial predilection) in childhood. ( 205473 )
1978
46
Neuropathological changes in hereditary neuropathies: manifestation of the syndrome heredopathia atactica polyneuritiformis in the presence of interstitial hypertrophic polyneuropathy. ( 13346397 )
1956

Variations for Neuropathy - Hereditary

Expression for Neuropathy - Hereditary

Search GEO for disease gene expression data for Neuropathy - Hereditary.

Pathways for Neuropathy - Hereditary

Pathways related to Neuropathy - Hereditary according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.63 MPZ PMP22

GO Terms for Neuropathy - Hereditary

Biological processes related to Neuropathy - Hereditary according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 myelination GO:0042552 8.62 MPZ PMP22

Sources for Neuropathy - Hereditary

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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