MCID: HRD088
MIFTS: 32

Hereditary Neuropathies malady

Neuronal diseases category
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Summaries for Hereditary Neuropathies

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NINDS:43 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 neuropathy and charcot-marie-tooth disease. An important gene associated with Hereditary Neuropathies is MPZ (myelin protein zero), and among its related pathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. The compounds pyruvate and rotenone have been mentioned in the context of this disorder. Affiliated tissues include testes.

Aliases & Classifications for Hereditary Neuropathies

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Sources:
43NINDS, 62UMLS, 44Novoseek
See all sources

Hereditary Neuropathies, Aliases & Descriptions:

Name: Hereditary Neuropathies 43 62
Hereditary Neuropathy 44 62
 
Neuropathy - Hereditary 43


Classifications:

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


Related Diseases for Hereditary Neuropathies

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

(show top 50)    (show all 148)
idRelated DiseaseScoreTop Affiliating Genes
1neuropathy31.7PRX, MPZ
2charcot-marie-tooth disease31.0MPZ, PRX
3polyneuropathy30.5PRX, MPZ
4charcot-marie-tooth disease type 330.1MPZ, PRX
5myopathy30.0MPZ, PRX
6hereditary neuropathy with liability to pressure palsies11.1
7hereditary neuropathy with liability to pressure palsy11.1
8tooth disease10.6
9charcot-marie-tooth disease type 1a10.5
10autonomic neuropathy10.4
11neuritis10.4MPZ
12dnmt1-related dementia, deafness, and sensory neuropathy10.4
13optic neuritis10.4MPZ
14melas syndrome10.4MT-ND6
15hereditary sensory neuropathy10.4
16charcot-marie-tooth hereditary neuropathy10.3
17charcot-marie-tooth neuropathy type 410.3PRX
18hereditary sensory and autonomic neuropathy type ii10.3
19neuropathy, hereditary motor and sensory, russe type10.3
20hereditary thermosensitive neuropathy10.3
21neuropathy, hereditary motor and sensory, okinawa type10.3
22amyotrophic lateral sclerosis10.2
23lateral sclerosis10.2
24carpal tunnel syndrome10.2
25hereditary neuralgic amyotrophy10.2
26neuropathy, hereditary motor and sensory, lom type10.2
27leber hereditary optic neuropathy with dystonia10.2MT-ND4, MT-ND6
28optic nerve disease10.1MT-ND4, MT-ND6
29lactic acidosis10.1MT-ND4, MT-ND1
30axonal neuropathy10.1
31motor peripheral neuropathy10.1
32tangier disease10.1
33inherited peripheral neuropathy10.1
34hereditary motor and sensory neuropathy vi10.1
35foot drop10.1
36neuropathy, hereditary sensory, type iic10.1
37neuropathy, hereditary sensory, type ib10.1
38neuropathy, hereditary sensory and autonomic, type vii10.1
39neuropathy, hereditary sensory, with spastic paraplegia10.1
40neuropathy, hereditary sensory and autonomic, type ia10.1
41neuropathy, hereditary sensory, type if10.1
42neuropathy, recurrent, with pressure palsies10.1
43charcot-marie-tooth disease, dominant intermediate b10.1
44sensory peripheral neuropathy10.1PRX, MPZ
45mitochondrial disorders10.0MT-ATP6, MT-ND4
46leber hereditary optic neuropathy10.0MT-ND4, MT-ND1, MT-ND6
47chronic inflammatory demyelinating polyneuropathy10.0
48diabetes mellitus10.0
49hereditary ataxia10.0
50hereditary spastic paraplegia10.0

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



Diseases related to hereditary neuropathies

Symptoms for Hereditary Neuropathies

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Drugs & Therapeutics for Hereditary Neuropathies

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Drug clinical trials:

Search ClinicalTrials for Hereditary Neuropathies

Search NIH Clinical Center for Hereditary Neuropathies

Genetic Tests for Hereditary Neuropathies

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Anatomical Context for Hereditary Neuropathies

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MalaCards organs/tissues related to Hereditary Neuropathies:

32
Testes

Animal Models for Hereditary Neuropathies or affiliated genes

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Publications for Hereditary Neuropathies

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Articles related to Hereditary Neuropathies:

(show top 50)    (show all 231)
idTitleAuthorsYear
1
Hereditary neuropathy with liability to pressure palsies presenting with sciatic neuropathy. (25326571)
2014
2
Axonal dysfunction, dysmyelination, and conduction failure in hereditary neuropathy with liability to pressure palsies. (24752454)
2014
3
Charcot-Marie-Tooth Disease and Related Hereditary Neuropathies: From Gene Function to Associated Phenotypes. (25323870)
2014
4
Hereditary neuropathy with liability to pressure palsy: two cases of difficult diagnosis. (23965407)
2013
5
Comments on 'hereditary neuropathy with liability to pressure palsy: an investigation in a rare and large chinese family'. (24192759)
2013
6
DNA testing in hereditary neuropathies. (23931782)
2013
7
Rapid genetic screening of Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies patients. (25337104)
2012
8
Hereditary neuropathy with liability to pressure palsies. Diagnosis in the first family (1947) confirmed. (23279343)
2012
9
Two cases of elderly-onset hereditary neuropathy with liability to pressure palsy manifesting bilateral peroneal nerve palsies. (23185166)
2012
10
Coexistence of transthyretin familial amyloid polyneuropathy and hereditary neuropathy with liability to pressure palsy. (22520972)
2012
11
Rapidly progressive amyotrophic lateral sclerosis in a young patient with hereditary neuropathy with liability to pressure palsies. (19437170)
2010
12
Pes cavus and hereditary neuropathies: when a relationship should be suspected. (20963465)
2010
13
Hereditary neuropathy with liability to pressure palsies and amyotrophic lateral sclerosis. (19238316)
2009
14
A case of rare recessive oculopharyngeal muscular dystrophy (OPMD) coexisting with hereditary neuropathy with liability to pressure palsies (HNPP). (18358598)
2008
15
Hereditary neuropathy with liability to pressure palsies: description of seven patients without known family history. (17922888)
2008
16
Hereditary neuropathy with liability to pressure palsy combined with schwannomas of the median and medial plantar nerves. (16969831)
2007
17
Ciliary neurotrophic factor null alleles are not a risk factor for Charcot-Marie-Tooth disease, hereditary neuropathy with pressure palsies and amyotrophic lateral sclerosis. (17651970)
2007
18
Inherited focal, episodic neuropathies: hereditary neuropathy with liability to pressure palsies and hereditary neuralgic amyotrophy. (16775374)
2006
19
A rare genetic disorder in the differential diagnosis of the entrapment neuropathies: hereditary neuropathy with liability to pressure palsies. (16601541)
2006
20
Dispersion of compound muscle action potential in hereditary neuropathies and chronic inflammatory demyelinating polyneuropathy. (16823858)
2006
21
Central nervous system involvement in hereditary neuropathy with liability to pressure palsies: description of a large family with this association. (16344349)
2005
22
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. (15955700)
2005
23
Hereditary neuropathy with liability to pressure palsies (HNPP) patients of Korean ancestry with chromosome 17p11.2-p12 deletion. (15031668)
2004
24
Hereditary neuropathy with liability to pressure palsy: fulminant development with axonal loss during military training. (15489403)
2004
25
Hereditary neuropathies. (14501846)
2003
26
Diagnosis of hereditary neuropathies in adult patients. (12574944)
2003
27
Hereditary neuropathies. (19078724)
2003
28
Fluorescence in situ hybridization (FISH) for identifying the genomic rearrangements associated with three myelinopathies. Charcot-Marie-Tooth disease, hereditary neuropathy with liability to pressure palsies, and Pelizaeus-Merzbacher disease. (12491936)
2003
29
Molecular basis of hereditary neuropathies. (11908222)
2002
30
Hereditary neuropathy with liability to pressure palsies: a case report. (11302321)
2001
31
Acute vocal cord paralysis in hereditary neuropathy with liability to pressure palsies. (11376203)
2001
32
Respiratory insufficiency in a patient with hereditary neuropathy with liability to pressure palsy. (10671122)
2000
33
Molecular genetics of hereditary neuropathies. (10223854)
1999
34
Gene dosage effects in hereditary peripheral neuropathy. Expression of peripheral myelin protein 22 in Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies nerve biopsies. (9409359)
1997
35
Underexpression of messenger RNA for peripheral myelin protein 22 in hereditary neuropathy with liability to pressure palsies. (9040736)
1997
36
Hereditary neuropathy with liability to pressure palsies (HNPP) revealed after weight loss. (9208274)
1997
37
Deletion of the PMP22 gene and hereditary neuropathy with liability to pressure palsies. (8894410)
1996
38
Hereditary neuropathy with liability to pressure palsies: the same molecular defect can result in diverse clinical presentation. (8936351)
1996
39
Peripheral myelin protein-22 gene deletion in two unrelated Japanese pedigrees with hereditary neuropathy with liability to pressure palsies. (8618572)
1996
40
Hereditary neuropathy with liability to pressure palsies with a partial deletion of the region often duplicated in Charcot-Marie-Tooth disease, type 1A. (8937360)
1996
41
Molecular genetic analysis of the 17p11.2 region in patients with hereditary neuropathy with liability to pressure palsies (HNPP). (8557256)
1996
42
Asian hereditary neuropathy patients with peripheral myelin protein-22 gene aneuploidy. (8849012)
1995
43
Hereditary neuropathy with liability to pressure palsies and inherited brachial plexus neuropathy--two genetically distinct disorders. (7630211)
1995
44
Molecular diagnosis of hereditary neuropathy with liability to pressure palsies (HNPP) by detection of 17p11.2 deletion in Italian patients. (7643137)
1995
45
Prevalence of the 1.5-Mb 17p deletion in families with hereditary neuropathy with liability to pressure palsies. (7944298)
1994
46
Evidence for genetic heterogeneity underlying hereditary neuropathy with liability to pressure palsies. (8112739)
1994
47
A family with hereditary neuropathy with liability to pressure palsies--clinical, electrophysiological, pathological study and DNA analysis]. (7955724)
1994
48
DNA deletion associated with hereditary neuropathy with liability to pressure palsies. (8422677)
1993
49
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
50
HEREDITARY NEUROPATHY, WITH LIABILITY TO PRESSURE PALSIES; A CLINICAL AND ELECTROPHYSIOLOGICAL STUDY OF FOUR FAMILIES. (14212604)
1964

Variations for Hereditary Neuropathies

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Expression for genes affiliated with Hereditary Neuropathies

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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

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Compounds for genes affiliated with Hereditary Neuropathies

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Sources:
44Novoseek, 24HMDB, 28IUPHAR, 11DrugBank
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Compounds related to Hereditary Neuropathies according to GeneCards/GeneDecks:

(show all 16)
idCompoundScoreTop Affiliating Genes
1pyruvate449.5MT-ND1, MT-ND4
2rotenone449.4MT-ND6, MT-ND1
3isoleucine449.4MT-ND6, MT-ND4
4solium449.4MT-ATP6, MT-ND1
5Ubiquinol 8249.3MT-ND6, MT-ND1, MT-ND4
6Sulfide249.3MT-ND6, MT-ND1, MT-ND4
7QH2249.2MT-ND4, MT-ND1, MT-ND6
8Ubiquinone Q2249.2MT-ND6, MT-ND1, MT-ND4
9Ubiquinone Q1249.2MT-ND4, MT-ND1, MT-ND6
10FAD249.2MT-ND4, MT-ND1, MT-ND6
11valine449.2MT-ND6, MT-ND1, MT-ND4
12methionine449.1MT-ND6, MT-ND1, MPZ
13nad28 2410.1MT-ND4, MT-ND1, MT-ND6
14iron44 2410.0MT-ND4, MT-ND1, MT-ND6
15nadh44 24 1110.4MT-ND4, MT-ND1, MT-ND6, MT-ATP6
16atp44 289.4MT-ND4, MT-ND1, MT-ATP6

GO Terms for genes affiliated with Hereditary Neuropathies

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Products for genes affiliated with Hereditary Neuropathies

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  • Antibodies
  • Proteins
  • Lysates

Sources for Hereditary Neuropathies

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet