HSMN
MCID: MTR007
MIFTS: 33

Motor Peripheral Neuropathy (HSMN) malady

Neuronal, Muscle categories

Summaries for Motor Peripheral Neuropathy

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33MalaCards
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MalaCards: Motor Peripheral Neuropathy, also known as hsmn - hereditary sensory and motor neuropathy, is related to charcot-marie-tooth neuropathy type 2 and sensory peripheral 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

Sources:
8Disease Ontology, 45Novoseek, 61UMLS, 35MeSH, 57SNOMED-CT, 40NCIt
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Classifications:

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


Aliases & Descriptions:

motor peripheral neuropathy 8
hsmn - hereditary sensory and motor neuropathy 8
hereditary motor and sensory neuropathies 61
hereditary motor and sensory neuropathy 8
hereditary sensory motor neuropathy 45
neuropathic muscular atrophy 8
peripheral motor neuropathy 61
hsmn 8


External Ids:

Disease Ontology8 DOID:2477
MeSH35 D015417
NCIt40 C75467

Related Diseases for Motor Peripheral Neuropathy

Sources:
17GeneCards, 18GeneDecks
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Diseases in the motor neuropathy peripheral with dysautonomia family:

motor peripheral neuropathy

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

(show top 50)    (show all 66)
idRelated DiseaseScoreTop Affiliating Genes
1charcot-marie-tooth neuropathy type 230.4KIF1B
2sensory peripheral neuropathy30.4SLC12A6, NDRG1
3axonal neuropathy30.1KIF1B
4tooth disease10.7
5charcot-marie-tooth hereditary neuropathy10.7
6hereditary motor and sensory neuropathy with agenesis of the corpus callosum10.7
7charcot-marie-tooth disease with pyramidal features, autosomal dominant10.7
8hereditary motor and sensory neuropathy vi10.7
9n syndrome10.6
10corpus callosum agenesis10.6
11charcot-marie-tooth disease type 2c10.6
12neuropathy, hereditary motor and sensory, okinawa type10.6
13hereditary neuropathies10.6
14neuropathy, hereditary motor and sensory, russe type10.5
15charcot-marie-tooth disease type 110.5
16charcot-marie-tooth disease type 310.5
17juvenile glaucoma10.5
18hereditary neuropathy with liability to pressure palsies10.5
19neuropathy, hereditary motor and sensory, lom type10.5
20glaucoma, hereditary10.5
21neuropathy sensory spastic paraplegia10.5
22charcot-marie-tooth neuropathy type 2c10.5
23motor neuropathy peripheral with dysautonomia10.4
24lambert-eaton myasthenic syndrome10.3
25superior mesenteric artery syndrome10.3
26cochlear disease10.3
27autonomic neuropathy10.3
28charcot-marie-tooth neuropathy type 110.3
29charcot-marie-tooth neuropathy type 4a10.3
30aplasia cutis congenita10.3
31auditory neuropathy10.3
32lambert syndrome10.3
33charcot-marie-tooth disease type 1a10.3
34charcot-marie-tooth disease type 1b10.3
35charcot-marie-tooth disease type 1d10.3
36charcot-marie-tooth disease type 2a10.3
37charcot-marie-tooth disease type 2b10.3
38charcot-marie-tooth disease type 2b110.3
39charcot-marie-tooth disease type 2b210.3
40charcot-marie-tooth disease type 2h10.3
41charcot-marie-tooth disease type 4b210.3
42cowchock syndrome10.3
43chronic inflammatory demyelinating polyneuropathy10.3
44hansen's disease10.3
45motor sensory neuropathy type 1 aplasia cutis congenita10.3
46keratoderma10.3
47hereditary sensory neuropathy type id10.3
48mental retardation10.3
49charcot-marie-tooth disease, type 2a110.3
50charcot-marie-tooth disease, type 2a210.3

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



Diseases related to motor peripheral neuropathy

Clinical Features for Motor Peripheral Neuropathy

Drugs & Therapeutics for Motor Peripheral Neuropathy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Motor Peripheral Neuropathy

Drug clinical trials:

Search ClinicalTrials for Motor Peripheral Neuropathy

Search NIH Clinical Center for Motor Peripheral Neuropathy

Search CenterWatch for Motor Peripheral Neuropathy

Genetic Tests for Motor Peripheral Neuropathy

Anatomical Context for Motor Peripheral Neuropathy

Sources:
33MalaCards
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MalaCards organs/tissues related to Motor Peripheral Neuropathy:

33
B cells

Animal Models for Motor Peripheral Neuropathy or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Motor Peripheral Neuropathy:

37
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

Sources:
51PubMed
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Articles related to Motor Peripheral Neuropathy:

(show all 23)
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
Retinal changes in familial peripheral sensory and motor neuropathy associated with anterior cervical hypertrichosis. (9310921)
1997
15
A case of hereditary motor and sensory neuropathy type I with a new type of peripheral myelin protein (PMP)-22 mutation. (8777804)
1995
16
Dapsone-induced motor peripheral neuropathy in pemphigus foliaceus. (8565254)
1995
17
Familial congenital anterior cervical hypertrichosis associated with peripheral sensory and motor neuropathy--a new syndrome? (1666396)
1991
18
An alert for motor neuron diseases and peripheral neuropathy: monoclonal paraproteinemia may be missed by routine electrophoresis. (3030245)
1987
19
Sensory and motor peripheral neuropathy in olivopontocerebellar atrophy. (3014798)
1986
20
Hereditary motor peripheral neuropathy predominantly affecting the arms. (180264)
1976
21
Peripheral motor and sensory neuropathy of early childhood, simulating Werdnig-Hoffmann disease. (183171)
1976
22
Peripheral motor nerve function in diabetic autonomic neuropathy. (932764)
1976
23
Peripheral neuropathy with myokymia, sustained muscular contraction, and continuous motor unit activity. (4333031)
1972

Genetic Variations for Motor Peripheral Neuropathy

Expression for genes affiliated with Motor Peripheral Neuropathy

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

Search GEO for disease gene expression data for Motor Peripheral Neuropathy.

Pathways for genes affiliated with Motor Peripheral Neuropathy

Sources:
38NCBI 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

GO Terms for genes affiliated with Motor Peripheral Neuropathy

Sources:
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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Sources for Motor Peripheral Neuropathy

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