HSMN
MCID: MTR007
MIFTS: 36

Motor Peripheral Neuropathy (HSMN) malady

Neuronal diseases, Muscle diseases categories

Summaries for Motor Peripheral Neuropathy

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MalaCards: Motor Peripheral Neuropathy, also known as hsmn - hereditary sensory and motor neuropathy, is related to charcot-marie-tooth disease and neuropathy. An important gene associated with Motor Peripheral Neuropathy is TRPV4 (transient receptor potential cation channel, subfamily V, member 4), and among its related pathways are Validated targets of C-MYC transcriptional repression and Angiogenesis. Affiliated tissues include b cells, and related mouse phenotypes are skeleton and behavior/neurological.

Aliases & Classifications for Motor Peripheral Neuropathy

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8Disease Ontology, 44Novoseek, 60UMLS, 34MeSH, 56SNOMED-CT, 39NCIt
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Classifications:

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


Aliases & Descriptions:

motor peripheral neuropathy 8
hsmn - hereditary sensory and motor neuropathy 8
hereditary motor and sensory neuropathies 60
hereditary motor and sensory neuropathy 8
hereditary sensory motor neuropathy 44
neuropathic muscular atrophy 8
peripheral motor neuropathy 60
hsmn 8


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Disease Ontology8 DOID:2477
MeSH34 D015417
NCIt39 C75467

Related Diseases for Motor Peripheral Neuropathy

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17GeneCards, 18GeneDecks
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Diseases related to Motor Peripheral Neuropathy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 117)
idRelated DiseaseScoreTop Affiliating Genes
1charcot-marie-tooth disease31.2NDRG1, TRPV4, KIF1B
2neuropathy30.6TRPV4, SH3TC2
3peripheral neuropathy30.6SLC12A6, NDRG1
4polyneuropathy30.4NDRG1
5charcot-marie-tooth neuropathy type 230.4KIF1B
6sensory peripheral neuropathy30.3SLC12A6, NDRG1
7axonal neuropathy30.1KIF1B
8motor neuritis30.1NDRG3, NDRG4
9hereditary sensory neuropathy11.2
10hereditary motor and sensory neuropathy with agenesis of the corpus callosum10.8
11hereditary motor and sensory neuropathy vi10.7
12optic atrophy10.7
13tooth disease10.7
14charcot-marie-tooth hereditary neuropathy10.7
15charcot-marie-tooth disease with pyramidal features, autosomal dominant10.7
16charcot-marie-tooth disease type 2c10.6
17neuropathy, hereditary motor and sensory, okinawa type10.6
18charcot-marie-tooth disease type 110.6
19neuropathy, hereditary motor and sensory, russe type10.6
20charcot-marie-tooth disease type 310.5
21paraplegia10.5
22neuropathy, hereditary motor and sensory, lom type10.5
23charcot-marie-tooth disease, dominant intermediate b10.5
24juvenile glaucoma10.4
25glaucoma10.4
26hereditary neuropathy with liability to pressure palsies10.4
27charcot-marie-tooth neuropathy type 110.4
28charcot-marie-tooth neuropathy type 4a10.4
29charcot-marie-tooth disease type 1a10.4
30charcot-marie-tooth disease type 1b10.4
31charcot-marie-tooth disease type 1d10.4
32charcot-marie-tooth disease type 2b10.4
33charcot-marie-tooth disease type 2b110.4
34charcot-marie-tooth disease type 2b210.4
35charcot-marie-tooth disease type 2h10.4
36charcot-marie-tooth disease type 4b210.4
37cowchock syndrome10.4
38charcot-marie-tooth neuropathy type 2c10.4
39hereditary neuropathies10.4
40charcot-marie-tooth disease, type 2a110.4
41charcot-marie-tooth disease, type 2a210.4
42charcot-marie-tooth disease - deafness - intellectual deficit10.4
43motor neuropathy peripheral with dysautonomia10.3
44lambert-eaton myasthenic syndrome10.3
45charcot-marie-tooth disease type 410.3
46superior mesenteric artery syndrome10.3
47neuronitis10.3
48cochlear disease10.3
49autonomic neuropathy10.3
50chromosomal disease10.3

Graphical network of the top 20 diseases related to Motor Peripheral Neuropathy:



Diseases related to motor peripheral neuropathy

Clinical Features for Motor Peripheral Neuropathy

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Drugs & Therapeutics for Motor Peripheral Neuropathy

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Motor Peripheral Neuropathy

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Anatomical Context for Motor Peripheral Neuropathy

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32MalaCards
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MalaCards organs/tissues related to Motor Peripheral Neuropathy:

32
B cells

Animal Models for Motor Peripheral Neuropathy or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Motor Peripheral Neuropathy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.4SLC12A6, KIF1B, DARC, SH3TC2, NDRG2
2MP:00053867.4SLC12A6, NDRG4, NDRG1, SH3TC2, TRPV4, FGD4
3MP:00036317.2NDRG4, NDRG1, SH3TC2, TRPV4, FGD4, KIF1B

Publications for Motor Peripheral Neuropathy

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50PubMed
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Articles related to Motor Peripheral Neuropathy:

(show all 24)
idTitleAuthorsYear
1
Antibodies to Glycoproteins Shared by Human Peripheral Nerve and Campylobacter jejuni in Patients with Multifocal Motor Neuropathy. (23762534)
2013
2
A novel frameshift mutation of C19ORF12 causes NBIA4 with cerebellar atrophy and manifests with severe peripheral motor axonal neuropathy. (23521069)
2013
3
Both Schwann cell and axonal defects cause motor peripheral neuropathy in Ebf2-/- mice. (21220016)
2011
4
Mitochondrial abnormality in sensory, but not motor, axons in paclitaxel-evoked painful peripheral neuropathy in the rat. (22037390)
2011
5
Lack of motor progression in isolated sensory peripheral neuropathy. (20724263)
2010
6
European Federation of Neurological Societies/Peripheral Nerve Society guideline on management of multifocal motor neuropathy. Report of a joint task force of the European Federation of Neurological Societies and the Peripheral Nerve Society--first revision. (21199100)
2010
7
European Federation of Neurological Societies/Peripheral Nerve Society guideline on management of multifocal motor neuropathy. (16879289)
2006
8
European Federation of Neurological Societies/Peripheral Nerve Society Guideline on management of multifocal motor neuropathy. Report of a joint task force of the European Federation of Neurological Societies and the Peripheral Nerve Society. (16519777)
2006
9
Reversible motor and sensory peripheral neuropathy in a patient following acute carbon monoxide intoxication. (15773259)
2005
10
Paraneoplastic encephalomyelitis/sensory motor peripheral neuropathy - an autopsy case study. (16012914)
2005
11
Axonal ionic pathophysiology in human peripheral neuropathy and motor neuron disease. (16181085)
2004
12
Multifocal motor neuropathy caused by a B-cell lymphoma producing a monoclonal IgM autoantibody against peripheral nerve myelin glycolipids GM1 and GD1b. (14616962)
2003
13
Motor neuropathy in porphobilinogen deaminase-deficient mice imitates the peripheral neuropathy of human acute porphyria. (10207164)
1999
14
Ultrastructural immunocytochemical abnormalities of peripheral myelin proteins in hereditary sensory-motor neuropathies: 12 cases. (10586244)
1999
15
Retinal changes in familial peripheral sensory and motor neuropathy associated with anterior cervical hypertrichosis. (9310921)
1997
16
A case of hereditary motor and sensory neuropathy type I with a new type of peripheral myelin protein (PMP)-22 mutation. (8777804)
1995
17
Dapsone-induced motor peripheral neuropathy in pemphigus foliaceus. (8565254)
1995
18
Familial congenital anterior cervical hypertrichosis associated with peripheral sensory and motor neuropathy--a new syndrome? (1666396)
1991
19
An alert for motor neuron diseases and peripheral neuropathy: monoclonal paraproteinemia may be missed by routine electrophoresis. (3030245)
1987
20
Sensory and motor peripheral neuropathy in olivopontocerebellar atrophy. (3014798)
1986
21
Hereditary motor peripheral neuropathy predominantly affecting the arms. (180264)
1976
22
Peripheral motor and sensory neuropathy of early childhood, simulating Werdnig-Hoffmann disease. (183171)
1976
23
Peripheral motor nerve function in diabetic autonomic neuropathy. (932764)
1976
24
Peripheral neuropathy with myokymia, sustained muscular contraction, and continuous motor unit activity. (4333031)
1972

Genetic Variations for Motor Peripheral Neuropathy

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Expression for genes affiliated with Motor Peripheral Neuropathy

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Motor Peripheral Neuropathy

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Pathways for genes affiliated with Motor Peripheral Neuropathy

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37NCBI BioSystems Database, 4Cell Signaling Technology
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Pathways related to Motor Peripheral Neuropathy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5NDRG1, NDRG2
28.1NDRG4, NDRG3, NDRG2, NDRG1
38.1NDRG1, NDRG2, NDRG3, NDRG4
47.7KIF1B, NDRG1, NDRG2, NDRG3, NDRG4

Compounds for genes affiliated with Motor Peripheral Neuropathy

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GO Terms for genes affiliated with Motor Peripheral Neuropathy

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16Gene Ontology
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Cellular components related to Motor Peripheral Neuropathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1filopodiumGO:0301759.3MSN, FGD4, TRPV4

Biological processes related to Motor Peripheral Neuropathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1peripheral nervous system myelin maintenanceGO:0322879.8SH3TC2, NDRG1

Molecular functions related to Motor Peripheral Neuropathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1microtubule bindingGO:0080179.4KIF1B, TRPV4, NDRG1

Products for genes affiliated with Motor Peripheral Neuropathy

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Motor Peripheral Neuropathy

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet