MCID: DST027

Distal Hereditary Motor Neuropathy, Type Ii malady

Summaries for Distal Hereditary Motor Neuropathy, Type Ii

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17Genetics Home Reference, 22MalaCards
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Genetics Home Reference: Distal hereditary motor neuropathy, type II is a progressive disorder that affects nerve cells in the spinal cord. It results in muscle weakness and affects movement, primarily in the legs.17

MalaCards: Distal Hereditary Motor Neuropathy, Type Ii, also known as inherited neuropathy, is related to distal hereditary motor neuropathy and neuropathy. An important gene associated with Distal Hereditary Motor Neuropathy, Type Ii is HCAR3 (hydroxycarboxylic acid receptor 3), and among its related pathways are Loss of Nlp from mitotic centrosomes and Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding. The compounds albendazole and pironetin have been mentioned in the context of this disorder. Affiliated tissues include spinal cord.

Aliases & Descriptions for Distal Hereditary Motor Neuropathy, Type Ii

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17Genetics Home Reference, 43UMLS
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distal hereditary motor neuropathy, type ii 17
inherited neuropathy 43

Related Diseases for Distal Hereditary Motor Neuropathy, Type Ii

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13GeneCards, 14GeneDecks
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Disease types for distal hereditary motor neuropathy family:

distal hereditary motor neuropathy type v distal hereditary motor neuropathy, type ii

Diseases related to distal hereditary motor neuropathy, type ii by text searches and GeneDecks gene sharing:

(show all 33)
idRelated DiseaseScoreTop Affiliating Genes
1distal hereditary motor neuropathy29.6CLIP1, ARF3, HSPB8, TUBA1A, TUBA1B, TUBA1C
2neuropathy29.5ARF3, HSPB8, TUBA1A, CLIP1, TUBA1C, TUBB
3chondroblastoma12.5TUBB, TUBA1C
4pachygyria12.4TUBA1A, TUBA1B
5pulmonary sclerosing hemangioma12.3TUBA1B, TUBA1A
6estrogen-receptor positive breast cancer12.3TUBA1B, HSPB8
7sclerosing hemangioma12.1TUBA1A, TUBA1B
8cerebral amyloid angiopathy11.9TUBB, TUBA1B, HSPB8
9malaria10.0TUBA1A, TUBA1B, DDX23, TUBA1C, TUBB, ARF3
10charcot-marie-tooth disease6.9
11tooth disease6.9
12hereditary neuropathy with liability to pressure palsy5.5
13hereditary type 1 neuropathy5.5
14hereditary type 2 neuropathy5.5
15age related macular degeneration5.5
16hereditary neuropathies5.5
17charcot-marie-tooth neuropathy type 15.5
18macular degeneration5.5
19charcot-marie-tooth neuropathy type 25.5
20refsum disease5.5
21dnmt1-related dementia, deafness, and sensory neuropathy5.5
22riley-day syndrome5.5
23distal hereditary motor neuronopathy type viib5.5
24werdnig-hoffmann disease5.5
25distal hereditary motor neuronopathy, type iia5.5
26was-related disorders5.5
27distal hereditary motor neuronopathy, type iib5.5
28distal hereditary motor neuronopathy, type iic5.5
29distal hereditary motor neuropathy type v5.5
30distal spinal muscular atrophy 45.5
31hereditary neuropathy with liability to pressure palsies5.5
32hereditary sensory and autonomic neuropathy type ii5.5
33hereditary sensory neuropathy type ia5.5

Graphical network of the top 20 diseases related to distal hereditary motor neuropathy, type ii:



Graphical network of diseases related to distal hereditary motor neuropathy, type ii

Clinical Features for Distal Hereditary Motor Neuropathy, Type Ii

Drugs & Therapeutics for Distal Hereditary Motor Neuropathy, Type Ii

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4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Distal Hereditary Motor Neuropathy, Type Ii

Anatomical Context for Distal Hereditary Motor Neuropathy, Type Ii

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22MalaCards
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MalaCards organs/tissues related to distal hereditary motor neuropathy, type ii:

22
Spinal cord

Phenotypes for genes affiliated with Distal Hereditary Motor Neuropathy, Type Ii

Publications for genes affiliated with Distal Hereditary Motor Neuropathy, Type Ii

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35PubMed
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Articles related to distal hereditary motor neuropathy, type ii:

idTitleAuthorsYearAffiliating Genes
1Mutation analysis of 12 candidate genes for distal hereditary motor neuropathy type II (distal HMN II) linked to 12q24.3. (12090300)Irobi J.... Timmerman V.2002TUBB, TUBA1A, ARF3
2Exclusion of 5 functional candidate genes for distal hereditary motor neuropathy type II (distal HMN II) linked to 12q24.3. (11851982)Irobi J.... Timmerman V.2001CLIP1
3A clone contig of 12q24.3 encompassing the distal hereditary motor neuropathy type II gene. (10777663)Irobi J.... Beuten J.2000HSPB8
4Distal hereditary motor neuropathy type II (distal HMN II): mapping of a locus to chromosome 12q24. (8817349)Timmerman V.... Van Broeckhoven C.1996HSPB8
5Linkage analysis of distal hereditary motor neuropathy type II (distal HMN II) in a single pedigree. (1517763)Timmerman V.... Van Broeckhoven C.1992HSPB8

Expression for genes affiliated with Distal Hereditary Motor Neuropathy, Type Ii

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1BioGPS
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Expression patterns in normal tissues for genes affiliated with Distal Hereditary Motor Neuropathy, Type Ii

Pathways for genes affiliated with Distal Hereditary Motor Neuropathy, Type Ii

Sources:
38Reactome, 10EMD Millipore, 41Thomson Reuters, 20KEGG, 3Cell Signaling Technology
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Pathways related to distal hereditary motor neuropathy, type ii according to GeneDecks:

(show all 25)
idPathwayScoreTop Affiliating Genes
1Loss of Nlp from mitotic centrosomes389.5TUBA1A, TUBB
2Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding389.2TUBA1B, TUBA1C
3Cytoskeleton remodeling Keratin filaments108.9TUBB, TUBA1C, TUBA1B, TUBA1A
4wtCFTR and deltaF508 traffic / Membrane expression (norm and CF)418.9TUBA1A, TUBA1B, TUBA1C, TUBB
5Cell adhesion Gap junctions108.9TUBA1A, TUBA1B, TUBA1C, TUBB
6Cytoskeleton remodeling Neurofilaments108.9TUBA1B, TUBA1A, TUBB, TUBA1C
7Cytoskeleton remodeling_Keratin filaments418.9TUBA1A, TUBA1B, TUBA1C, TUBB
8Cytoskeleton remodeling_Neurofilaments418.9TUBA1C, TUBA1A, TUBA1B, TUBB
9Cell adhesion_Gap junctions418.9TUBA1C, TUBB, TUBA1A, TUBA1B
10Cytoskeleton remodeling Slit-Robo signaling108.9TUBA1C, TUBB, TUBA1B, TUBA1A
11Pathogenic Escherichia coli infection208.9TUBA1A, TUBA1C, TUBA1B, TUBB
12Development_Slit-Robo signaling418.9TUBB, TUBA1C, TUBA1B, TUBA1A
13Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway108.9TUBA1B, TUBA1C, TUBB, TUBA1A
14Proteolysis_Role of Parkin in the Ubiquitin-Proteasomal Pathway418.8TUBA1C, TUBB, TUBA1B, TUBA1A
15Neurophysiological process Receptor-mediated axon growth repulsion108.8TUBA1A, TUBA1B, TUBA1C, TUBB
16Cytoskeleton remodeling Reverse signaling by ephrin B108.8TUBA1B, TUBA1C, TUBB, TUBA1A
17Neurophysiological process_Receptor-mediated axon growth repulsion418.8TUBA1B, TUBB, TUBA1C, TUBA1A
18Cytoplasmic microtubules108.8TUBA1A, TUBA1B, TUBA1C, TUBB
19Cytoskeleton remodeling_Reverse signaling by ephrin B418.8TUBA1C, TUBA1A, TUBB, TUBA1B
20Cell cycle Spindle assembly and chromosome separation108.7TUBB, TUBA1C, TUBA1A, TUBA1B
21Gap junction208.7TUBA1C, TUBB, TUBA1B, TUBA1A
22Cell cycle_Spindle assembly and chromosome separation418.7TUBA1A, TUBA1B, TUBA1C, TUBB
23Regulation of CFTR activity (norm and CF)418.6TUBB, TUBA1A, TUBA1C, TUBA1B
24Phagosome208.6TUBA1A, TUBB, TUBA1C, TUBA1B
25Cytoskeletal Signaling38.1TUBA1B, TUBB, CLIP1, TUBA1A

Compounds for genes affiliated with Distal Hereditary Motor Neuropathy, Type Ii

Sources:
32Novoseek , 9DrugBank, 42Tocris Bioscience
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Compounds related to distal hereditary motor neuropathy, type ii according to GeneDecks:

(show all 18)
idCompoundScoreTop Affiliating Genes
1albendazole32 9 9 11.7TUBB, TUBA1A
2pironetin32 9.7TUBB, TUBA1B
3podophyllotoxin32 9.6TUBB, TUBA1B
4estramustine32 9 9 11.5TUBA1B, TUBB
5colchicine32 9 9 11.4TUBB, TUBA1B
6cyanogen bromide32 9.3TUBB, TUBA1B
72-MERCAPTO-N-[1,2,3,10-TETRAMETHOXY-9-OXO-5,6,7,9-TETRAHYDRO-BENZO[A]HEPTALEN-7-YL]ACETAMIDE9 9 10.3TUBA1A, TUBA1B, TUBA1C
8vinblastine32 9 9 11.2TUBA1A, TUBA1B, TUBB
9rrna32 9.1TUBB, TUBA1B
10gdp32 9.1TUBA1B, TUBB, ARF3
11Epothilone D9 9 9.9TUBA1B, TUBA1C, TUBA1A, TUBB
12epothilone b32 9 9 10.9TUBA1B, TUBB, TUBA1C, TUBA1A
13vinblastine sulfate42 8.9TUBB, TUBA1C, TUBA1B, TUBA1A
14vincristine sulfate42 8.9TUBB, TUBA1A, TUBA1C, TUBA1B
15taxol42 8.8TUBA1A, TUBB, TUBA1C, TUBA1B
16xrp44x42 8.8TUBA1A, TUBA1B, TUBA1C, TUBB
17gtp32 8.3ARF3, TUBA1B, TUBB, CLIP1
18nocodazole32 42 9 9 11.0CLIP1, TUBA1A, TUBA1B, TUBB, TUBA1C

GO Terms for genes affiliated with Distal Hereditary Motor Neuropathy, Type Ii

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12Gene Ontology
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Cellular components related to distal hereditary motor neuropathy, type ii according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic microtubuleGO:0058818.7CLIP1, TUBA1A, TUBA1B
2microtubuleGO:0058747.4CLIP1, TUBA1A, TUBA1B, TUBA1C, TUBB

Biological processes related to distal hereditary motor neuropathy, type ii according to GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1de novo posttranslational protein foldingGO:0510849.1TUBA1A, TUBA1B, TUBA1C
2protein foldingGO:0064578.8TUBA1C, TUBA1B, TUBA1A
3cytoskeleton-dependent intracellular transportGO:0307058.7TUBA1A, TUBB, TUBA1C, TUBA1B
4mitotic cell cycleGO:0002788.7TUBB, TUBA1A, CLIP1
5microtubule-based processGO:0070178.7TUBA1C, TUBA1B, TUBA1A, TUBB
6protein polymerizationGO:0512588.7TUBA1B, TUBA1A, TUBA1C, TUBB
7microtubule-based movementGO:0070188.6TUBA1A, TUBA1B, TUBB, TUBA1C
8cell divisionGO:0513018.5TUBA1A, TUBA1C, TUBA1B, TUBB

Molecular functions related to distal hereditary motor neuropathy, type ii according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1structural molecule activityGO:0051988.6TUBB, TUBA1B, TUBA1A, TUBA1C
2GTPase activityGO:0039248.1ARF3, TUBA1A, TUBA1B, TUBA1C, TUBB
3GTP bindingGO:0055257.9TUBA1C, TUBA1B, TUBA1A, ARF3, TUBB

Sources for Distal Hereditary Motor Neuropathy, Type Ii

2CDC
11FMA
18HMDB
19ICD9CM
20KEGG
24MeSH
25MGI
27NCIt
28NDF-RT
31NINDS
32Novoseek
33OMIM
35PubMed
36QIAGEN
43UMLS