MCID: HRD088
MIFTS: 35

Hereditary Neuropathies malady

Neuronal category

Summaries for Hereditary Neuropathies

Sources:
44NINDS, 33MalaCards
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NINDS:44 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: Hereditary Neuropathies, also known as neuropathy - hereditary, is related to hereditary neuropathy with liability to pressure palsies and tooth disease. An important gene associated with Hereditary Neuropathies is PMP22 (peripheral myelin protein 22), and among its related pathways are Neural Crest Differentiation and Glial Cell Differentiation. The compounds 2,3-cyclic nucleotide and glatiramer acetate have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, and related mouse phenotypes are vision/eye and growth/size.

Aliases & Classifications for Hereditary Neuropathies

Sources:
44NINDS, 45Novoseek
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal


Aliases & Descriptions:

hereditary neuropathies 44
neuropathy - hereditary 44
hereditary neuropathy 45


Related Diseases for Hereditary Neuropathies

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 88)
idRelated DiseaseScoreTop Affiliating Genes
1hereditary neuropathy with liability to pressure palsies30.9PMP22
2tooth disease30.8GJB1, MPZ, PMP22
3brachial plexus neuropathy30.2PMP22, MPZ
4motor peripheral neuropathy30.2PMP22, MPZ
5hereditary neuralgic amyotrophy30.2SEPT9
6leber hereditary optic neuropathy30.1MT-ND4, MT-ND1, MT-ND6
7charcot-marie-tooth neuropathy type 129.9MPZ, PMP22
8pelizaeus-merzbacher disease29.9MPZ, PLP1
9chronic inflammatory demyelinating polyradiculoneuropathy29.9PMP22, MPZ
10charcot-marie-tooth hereditary neuropathy10.7
11autonomic neuropathy10.4
12neuropathy hereditary sensory and autonomic type 110.4
13hereditary sensory and autonomic neuropathy type ii10.3
14chromosome 17p deletion10.3
15n syndrome10.2
16dnmt1-related dementia, deafness, and sensory neuropathy10.2
17neuropathy, hereditary motor and sensory, russe type10.2
18hereditary neuropathy with liability to pressure palsy10.2
19lateral sclerosis10.2
20carpal tunnel syndrome10.2
21amyotrophic lateral sclerosis10.2
22neuropathy, hereditary motor and sensory, okinawa type10.2
23axonal neuropathy10.1
24peroneal neuropathy10.1
25neuropathy, hereditary motor and sensory, lom type10.1
26hereditary sensory and autonomic neuropathy type ic10.1
27hereditary sensory and autonomic neuropathy type iib10.1
28foot drop10.1
29neuropathy, hereditary sensory, type iic10.1
30neuropathy, hereditary sensory, type ib10.1
31neuropathy, hereditary sensory and autonomic, type vii10.1
32neuropathy, hereditary sensory, with spastic paraplegia10.1
33neuropathy, hereditary sensory and autonomic, type ia10.1
34peripheral neuropathy10.0NDRG1
35leukodystrophy10.0PLP1
36neuritis10.0PMP22, MPZ
37melas syndrome10.0MT-ND6
38opa3-related 3-methylglutaconic aciduria10.0MT-ND4
39charcot-marie-tooth neuropathy type 1a10.0PMP22, MPZ
40charcot-marie-tooth disease type 4e10.0PMP22, MPZ
41charcot-marie-tooth neuropathy type 210.0LMNA, MPZ
42charcot-marie-tooth disease10.0PMP22, MPZ
43charcot-marie-tooth disease type 310.0PMP22, MPZ, GJB1
44optic neuritis10.0MPZ, MAG, PLP1
45blindness10.0MT-ND4
46leber hereditary optic neuropathy with dystonia10.0MT-ND6, MT-ND4
47glaucoma10.0MTMR2
48neurilemmoma10.0MAG, MPZ, PMP22
49guillain-barre syndrome10.0PMP22, MPZ, PLP1
50polyradiculoneuropathy10.0PMP22

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



Diseases related to hereditary neuropathies

Clinical Features for Hereditary Neuropathies

Drugs & Therapeutics for Hereditary Neuropathies

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Hereditary Neuropathies

Drug clinical trials:

Search ClinicalTrials for Hereditary Neuropathies

Search NIH Clinical Center for Hereditary Neuropathies

Search CenterWatch for Hereditary Neuropathies

Genetic Tests for Hereditary Neuropathies

Anatomical Context for Hereditary Neuropathies

Sources:
33MalaCards
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MalaCards organs/tissues related to Hereditary Neuropathies:

33
Skeletal muscle

Animal Models for Hereditary Neuropathies or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Hereditary Neuropathies:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053919.4MT-ND6, GJB1, PLP1, LMNA, RAG1, NDRG1
2MP:00053788.7RAG1, LMNA, PLP1, GJB1, PRX, MTMR2
3MP:00053868.4COX10, NDRG1, MPZ, MTMR2, PRX, SH3TC2
4MP:00036318.3GJB1, MAG, RAG1, LMNA, PLP1, SH3TC2

Publications for Hereditary Neuropathies

Sources:
51PubMed
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Articles related to Hereditary Neuropathies:

(show top 50)    (show all 51)
idTitleAuthorsYear
1
DNA testing in hereditary neuropathies. (23931782)
2013
2
Genetic spectrum of hereditary neuropathies with onset in the first year of life. (21840889)
2011
3
Pes cavus and hereditary neuropathies: when a relationship should be suspected. (20963465)
2010
4
Correlation between muscle atrophy on MRI and manual strength testing in hereditary neuropathies. (20399669)
2010
5
Hereditary peripheral neuropathies]. (19327944)
2009
6
Genes for hereditary sensory and autonomic neuropathies: a genotype- phenotype correlation. (19651702)
2009
7
Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study. (18325928)
2008
8
Hereditary neuropathy with liability to pressure palsies in a Turkish patient (HNPP): a rare cause of entrapment neuropathies in young adults. (18382985)
2008
9
Experimental therapeutics in hereditary neuropathies: the past, the present, and the future. (19019301)
2008
10
Inherited focal, episodic neuropathies: hereditary neuropathy with liability to pressure palsies and hereditary neuralgic amyotrophy. (16775374)
2006
11
A rare genetic disorder in the differential diagnosis of the entrapment neuropathies: hereditary neuropathy with liability to pressure palsies. (16601541)
2006
12
Dispersion of compound muscle action potential in hereditary neuropathies and chronic inflammatory demyelinating polyneuropathy. (16823858)
2006
13
Molecular genetics of hereditary sensory neuropathies. (16775373)
2006
14
Cochlear implantation in a patient with deafness induced by Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathies). (16772060)
2006
15
Role of integrins in peripheral nerves and hereditary neuropathies. (16775376)
2006
16
The prevalence of hereditary neuropathy with liability to pressure palsies in patients with multiple surgically treated entrapment neuropathies. (16344182)
2005
17
Laminins and their receptors in Schwann cells and hereditary neuropathies. (15958125)
2005
18
Hereditary neuropathies. (15937733)
2005
19
Hereditary sensory neuropathies. (15319794)
2004
20
Charcot-Marie-Tooth disease (hereditary motor sensory neuropathies) and hereditary sensory and autonomic neuropathies. (15518599)
2004
21
Hereditary neuropathies. (14501846)
2003
22
Diagnosis of hereditary neuropathies in adult patients. (12574944)
2003
23
Hereditary neuropathies. (19078724)
2003
24
Molecular basis of hereditary neuropathies. (11908222)
2002
25
Hereditary sensory and autonomic neuropathies. Familial dysautonomia and other HSANs. (12102459)
2002
26
Clinical aspects and diagnostic and therapeutic approaches to motor and sensory hereditary neuropathies (NHMS)]. (12235586)
2002
27
Molecular basis of hereditary neuropathies. (11345007)
2001
28
Molecular genetics of hereditary neuropathies]. (11299480)
2001
29
The genetics of type 1 Charcot-Marie-Tooth disease, the hereditary focal neuropathies and the hereditary distal motor neuropathies]. (10743001)
2000
30
Characterisation of autoantibodies to peripheral myelin protein 22 in patients with hereditary and acquired neuropathies. (10713355)
2000
31
Principal peripheral myelin proteins: functions and anomalies in hereditary neuropathies]. (11033526)
2000
32
Exclusion of the ninjurin gene as a candidate for hereditary sensory neuropathies type I and type II. (10232753)
1999
33
Molecular genetics of hereditary neuropathies. (10223854)
1999
34
Ultrastructural immunocytochemical abnormalities of peripheral myelin proteins in hereditary sensory-motor neuropathies: 12 cases. (10586244)
1999
35
Hereditary neuropathies in childhood: morphologic hallmarks and pathophysiologic mechanisms. (10223855)
1999
36
Nerve conduction abnormalities and neuromyotonia in genetically engineered mouse models of human hereditary neuropathies. (10586256)
1999
37
Connexin32 in hereditary neuropathies. (10635032)
1999
38
The involvement of myelin proteins in hereditary neuropathies]. (10226313)
1999
39
Correlation between the histopathologic, genotypic, and phenotypic features of hereditary peripheral neuropathies in childhood. (8881991)
1996
40
Ultrastructural immunolabelling of amyloid fibrils in acquired and hereditary amyloid neuropathies. (8869389)
1996
41
Functional abnormalities in P0-deficient mice resemble human hereditary neuropathies linked to P0 gene mutations. (8756159)
1996
42
Hereditary neuropathies in children: the contribution of the new genetics. (8795847)
1996
43
Demyelinating hereditary neuropathies in children: a morphometric and ultrastructural study. (7756749)
1995
44
The association of hereditary neuropathies and heritable skeletal disorders. (7784290)
1995
45
Genetics of peripheral neuropathies and hereditary ataxias]. (8838557)
1995
46
Single test for two hereditary neuropathies, CMT1A and HNPP. (7586531)
1995
47
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
48
Hereditary motor and sensory neuropathies and hereditary spastic paraplegia: a magnetic stimulation study. (2375632)
1990
49
Hereditary sensory neuropathy with neurotrophic keratitis. Description of an autosomal recessive disorder with a selective reduction of small myelinated nerve fibres and a discussion of the classification of the hereditary sensory neuropathies. (3472625)
1987
50
Neuropathological changes in hereditary neuropathies: manifestation of the syndrome heredopathia atactica polyneuritiformis in the presence of interstitial hypertrophic polyneuropathy. (13346397)
1956

Genetic Variations for Hereditary Neuropathies

Expression for genes affiliated with Hereditary Neuropathies

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hereditary Neuropathies

Search GEO for disease gene expression data for Hereditary Neuropathies.

Pathways for genes affiliated with Hereditary Neuropathies

Sources:
38NCBI BioSystems Database
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Pathways related to Hereditary Neuropathies according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.2GJB1, MPZ
210.1PLP1, MAG

Compounds for genes affiliated with Hereditary Neuropathies

Sources:
45Novoseek, 11DrugBank, 24HMDB
See all sources

Compounds related to Hereditary Neuropathies according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
12,3-cyclic nucleotide4510.2PLP1, MAG, MPZ
2glatiramer acetate45 1111.2PLP1, MPZ
3sulfatide4510.2PLP1, MAG, MPZ
4ganglioside4510.1MAG, MPZ, PMP22
5dihydroprogesterone459.9MPZ, PMP22
6methionine459.7MPZ, MT-ND6, MT-ND1, PLP1
7arginine459.7PMP22, MPZ, GJB1, PLP1, LMNA, PABPN1
8nadh45 11 2411.6MT-ND6, MT-ND1, MT-ND4, RAG1
9cysteine459.5PMP22, NDRG1, MPZ, MAG, GJB1, PLP1
10alanine459.4MT-ND6, MT-ND1, MAG, LMNA, RAG1, PABPN1
11serine459.2PMP22, NDRG1, MPZ, MT-ND6, MT-ND1, MAG

GO Terms for genes affiliated with Hereditary Neuropathies

Sources:
16Gene Ontology
See all sources

Cellular components related to Hereditary Neuropathies according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1myelin sheathGO:04320910.2PLP1, MPZ

Biological processes related to Hereditary Neuropathies according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1myelin assemblyGO:03228810.2MTMR2, PMP22
2axon ensheathmentGO:00836610.0PLP1, PRX
3peripheral nervous system myelin maintenanceGO:0322879.8SH3TC2, NDRG1

Products for genes affiliated with Hereditary Neuropathies

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hereditary Neuropathies

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet