MCID: DST027
MIFTS: 29

Distal Hereditary Motor Neuropathy, Type Ii malady

Genetic diseases, Neuronal diseases, Muscle diseases, Rare diseases categories
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Summaries for Distal Hereditary Motor Neuropathy, Type Ii

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MalaCards based summary: Distal Hereditary Motor Neuropathy, Type Ii, also known as distal hereditary motor neuronopathy, type ii, is related to distal hereditary motor neuropathy and neuropathy. An important gene associated with Distal Hereditary Motor Neuropathy, Type Ii is HSPB8 (heat shock 22kDa protein 8), and among its related pathways are Cell Cycle, Mitotic and Prefoldin mediated transfer of substrate to CCT/TriC. The compounds albendazole and pironetin have been mentioned in the context of this disorder.

Aliases & Classifications for Distal Hereditary Motor Neuropathy, Type Ii

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Distal Hereditary Motor Neuropathy, Type Ii, Aliases & Descriptions:

Name: Distal Hereditary Motor Neuropathy, Type Ii 21
 
Distal Hereditary Motor Neuronopathy, Type Ii 21


Classifications:

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


Related Diseases for Distal Hereditary Motor Neuropathy, Type Ii

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Graphical network of diseases related to Distal Hereditary Motor Neuropathy, Type Ii:



Diseases related to distal hereditary motor neuropathy, type ii

Symptoms for Distal Hereditary Motor Neuropathy, Type Ii

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Drugs & Therapeutics for Distal Hereditary Motor Neuropathy, Type Ii

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Drug clinical trials:

Search ClinicalTrials for Distal Hereditary Motor Neuropathy, Type Ii

Search NIH Clinical Center for Distal Hereditary Motor Neuropathy, Type Ii

Genetic Tests for Distal Hereditary Motor Neuropathy, Type Ii

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Anatomical Context for Distal Hereditary Motor Neuropathy, Type Ii

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Animal Models for Distal Hereditary Motor Neuropathy, Type Ii or affiliated genes

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Publications for Distal Hereditary Motor Neuropathy, Type Ii

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Articles related to Distal Hereditary Motor Neuropathy, Type Ii:

idTitleAuthorsYear
1
Mutation analysis of 12 candidate genes for distal hereditary motor neuropathy type II (distal HMN II) linked to 12q24.3. (12090300)
2002
2
Exclusion of 5 functional candidate genes for distal hereditary motor neuropathy type II (distal HMN II) linked to 12q24.3. (11851982)
2001
3
A clone contig of 12q24.3 encompassing the distal hereditary motor neuropathy type II gene. (10777663)
2000
4
Distal hereditary motor neuropathy type II (distal HMN type II): phenotype and molecular genetics. (10586231)
1999
5
Construction of a PAC contig within the distal hereditary motor neuropathy type II candidate region at 12q24. (10586274)
1999
6
Mutation analysis of the human pancreatic phospholipase A2 gene in a family with distal hereditary motor neuropathy type II linked to 12q24. (9058425)
1997
7
Distal hereditary motor neuropathy type II (distal HMN II): mapping of a locus to chromosome 12q24. (8817349)
1996
8
Linkage analysis of distal hereditary motor neuropathy type II (distal HMN II) in a single pedigree. (1517763)
1992

Variations for Distal Hereditary Motor Neuropathy, Type Ii

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

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

Search GEO for disease gene expression data for Distal Hereditary Motor Neuropathy, Type Ii.

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

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Pathways related to Distal Hereditary Motor Neuropathy, Type Ii according to GeneCards/GeneDecks:

(show all 14)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.2CLIP1, TUBB, TUBA1A
2
Show member pathways
9.1TUBA1C, TUBA1B, TUBA1A
3
Show member pathways
9.1TUBA1A, TUBA1B, TUBA1C
48.8TUBA1C, TUBA1B, TUBB, TUBA1A
5
Show member pathways
Proteolysis Role of Parkin in the Ubiquitin Proteasomal Pathway60
8.8TUBA1C, TUBA1B, TUBB, TUBA1A
6
Show member pathways
Cytoskeleton remodeling Neurofilaments60
8.8TUBA1C, TUBA1B, TUBB, TUBA1A
7
Show member pathways
Cytoskeleton remodeling Reverse signaling by ephrin B60
8.8TUBA1C, TUBA1B, TUBB, TUBA1A
8
Show member pathways
8.8TUBA1A, TUBB, TUBA1B, TUBA1C
9
Show member pathways
Neurophysiological process Receptor mediated axon growth repulsion60
Pathogenic Escherichia coli infection37
8.8TUBA1A, TUBB, TUBA1B, TUBA1C
108.8TUBA1A, TUBB, TUBA1B, TUBA1C
118.8TUBA1A, TUBB, TUBA1B, TUBA1C
12
Show member pathways
8.8TUBA1A, TUBB, TUBA1B, TUBA1C
138.8TUBA1A, TUBB, TUBA1B, TUBA1C
148.7CLIP1, TUBA1B, TUBB, TUBA1A

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

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Compounds related to Distal Hereditary Motor Neuropathy, Type Ii according to GeneCards/GeneDecks:

(show all 17)
idCompoundScoreTop Affiliating Genes
1albendazole44 1111.0TUBB, TUBA1A
2pironetin449.8TUBB, TUBA1B
3podophyllotoxin449.7TUBB, TUBA1B
4estramustine44 1110.6TUBA1B, TUBB
5vinblastine44 50 1111.5TUBA1B, TUBB, TUBA1A
6cyanogen bromide449.5TUBB, TUBA1B
7rrna449.3TUBA1B, TUBB
8gdp449.3ARF3, TUBA1B, TUBB
9nocodazole44 1110.1CLIP1, TUBA1B, TUBB
10vinblastine sulfate619.1TUBA1C, TUBA1A, TUBB, TUBA1B
11vinorelbine ditartrate619.1TUBA1A, TUBB, TUBA1B, TUBA1C
12epothilone b44 61 1111.1TUBA1C, TUBA1B, TUBB, TUBA1A
13colchicine44 61 2 28 1113.0TUBA1A, TUBB, TUBA1B, TUBA1C
14docetaxel44 50 61 1112.0TUBA1C, TUBA1B, TUBB, TUBA1A
15hydrogen44 2410.0CLIP1, TUBA1B, TUBB
16gtp44 289.8TUBB, TUBA1B, CLIP1, ARF3
17Guanosine triphosphate248.6TUBA1A, TUBB, TUBA1B, TUBA1C, ARF3

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

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Cellular components related to Distal Hereditary Motor Neuropathy, Type Ii according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic microtubuleGO:0058818.2CLIP1, TUBA1C, TUBA1B, TUBA1A
2microtubuleGO:0058748.1CLIP1, TUBA1C, TUBA1B, TUBB, TUBA1A

Biological processes related to Distal Hereditary Motor Neuropathy, Type Ii according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1de novo posttranslational protein foldingGO:0510849.1TUBA1C, TUBA1B, TUBA1A
2cellular protein metabolic processGO:0442679.1TUBA1C, TUBA1B, TUBA1A
3protein foldingGO:0064579.0TUBA1A, TUBA1B, TUBA1C
4cytoskeleton-dependent intracellular transportGO:0307058.9TUBA1C, TUBA1B, TUBB, TUBA1A
5protein polymerizationGO:0512588.9TUBA1A, TUBB, TUBA1B, TUBA1C
6mitotic cell cycleGO:0002788.9CLIP1, TUBB, TUBA1A
7microtubule-based processGO:0070178.9TUBA1C, TUBA1B, TUBB, TUBA1A
8cell divisionGO:0513018.8TUBA1A, TUBB, TUBA1B, TUBA1C

Molecular functions related to Distal Hereditary Motor Neuropathy, Type Ii according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1structural molecule activityGO:0051988.8TUBA1C, TUBA1B, TUBB, TUBA1A
2structural constituent of cytoskeletonGO:0052008.7TUBA1A, TUBB, TUBA1B, TUBA1C
3GTPase activityGO:0039248.4ARF3, TUBA1C, TUBA1B, TUBB, TUBA1A
4GTP bindingGO:0055258.1TUBA1A, TUBB, TUBA1B, TUBA1C, ARF3

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

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  • Antibodies
  • Proteins
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Sources for Distal Hereditary Motor Neuropathy, Type Ii

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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