MCID: DST027
MIFTS: 29

Distal Hereditary Motor Neuropathy, Type Ii malady

Genetic diseases, Neuronal diseases, Rare diseases, Muscle diseases categories

Summaries for Distal Hereditary Motor Neuropathy, Type Ii

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MalaCards: 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 Protein folding. 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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22Genetics Home Reference
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Classifications:

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


Aliases & Descriptions:

distal hereditary motor neuropathy, type ii 22
distal hereditary motor neuronopathy, type ii 22


Related Diseases for Distal Hereditary Motor Neuropathy, Type Ii

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18GeneCards, 19GeneDecks
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Diseases in the Neuropathy, Distal Hereditary Motor, Type Va family:

Distal Hereditary Motor Neuropathy Distal Hereditary Motor Neuropathy Type V
Atp7a-Related Distal Motor Neuropathy distal hereditary motor neuropathy, type ii
Neuropathy, Distal Hereditary Motor, Type Viib Neuropathy, Distal Hereditary Motor, Type Iib
Neuropathy, Distal Hereditary Motor, Type Iia Distal Hereditary Motor Neuropathy Type 1

Diseases related to Distal Hereditary Motor Neuropathy, Type Ii via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1distal hereditary motor neuropathy10.8
2neuropathy10.8
3pancreatitis10.4
4ischemia9.9PLA2G1B, HSPB8, TUBA1B

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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Distal Hereditary Motor Neuropathy, Type Ii

Drug clinical trials:

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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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53PubMed
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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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2BioGPS, 16Gene Expression Omnibus DataSets
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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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51PathCards, 56Reactome, 39NCBI BioSystems Database, 61Thomson Reuters, 54QIAGEN, 31KEGG, 13EMD Millipore, 5Cell Signaling Technology
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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, TUBA1A, TUBB
2
Show member pathways
9.1TUBA1C, TUBA1B, TUBA1A
3
Show member pathways
9.1TUBA1C, TUBA1B, TUBA1A
4
Show member pathways
Proteolysis Role of Parkin in the Ubiquitin Proteasomal Pathway61
8.8TUBA1B, TUBB, TUBA1A, TUBA1C
5
Show member pathways
Cytoskeleton remodeling Reverse signaling by ephrin B61
8.8TUBB, TUBA1B, TUBA1C, TUBA1A
6
Show member pathways
8.8TUBA1A, TUBA1C, TUBA1B, TUBB
7
Show member pathways
8.8TUBB, TUBA1C, TUBA1B, TUBA1A
88.8TUBB, TUBA1B, TUBA1C, TUBA1A
98.8TUBA1A, TUBA1B, TUBB, TUBA1C
10
Show member pathways
Cytoskeleton remodeling Neurofilaments61
8.8TUBA1C, TUBA1A, TUBB, TUBA1B
118.8TUBA1C, TUBA1B, TUBB, TUBA1A
128.8TUBA1C, TUBA1B, TUBB, TUBA1A
13
Show member pathways
Neurophysiological process Receptor mediated axon growth repulsion61
Pathogenic Escherichia coli infection39
8.8TUBA1A, TUBB, TUBA1B, TUBA1C
148.7TUBA1B, CLIP1, TUBB, TUBA1A

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

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46Novoseek, 12DrugBank, 52PharmGKB, 62Tocris Bioscience, 3BitterDB, 30IUPHAR, 25HMDB
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Compounds related to Distal Hereditary Motor Neuropathy, Type Ii according to GeneCards/GeneDecks:

(show all 17)
idCompoundScoreTop Affiliating Genes
1albendazole46 1211.0TUBA1A, TUBB
2pironetin469.8TUBB, TUBA1B
3podophyllotoxin469.7TUBA1B, TUBB
4estramustine46 1210.6TUBB, TUBA1B
5vinblastine46 52 1211.5TUBB, TUBA1A, TUBA1B
6cyanogen bromide469.5TUBB, TUBA1B
7rrna469.3TUBA1B, TUBB
8gdp469.3ARF3, TUBA1B, TUBB
9nocodazole46 1210.1TUBA1B, CLIP1, TUBB
10vinblastine sulfate629.1TUBA1B, TUBB, TUBA1A, TUBA1C
11vinorelbine ditartrate629.1TUBA1C, TUBA1B, TUBB, TUBA1A
12epothilone b46 62 1211.1TUBB, TUBA1B, TUBA1C, TUBA1A
13colchicine46 62 3 30 1213.0TUBB, TUBA1C, TUBA1B, TUBA1A
14docetaxel46 52 62 1212.0TUBA1C, TUBA1B, TUBB, TUBA1A
15hydrogen46 2510.0CLIP1, TUBB, TUBA1B
16gtp46 309.8ARF3, CLIP1, TUBA1B, TUBB
17Guanosine triphosphate258.6TUBA1C, ARF3, TUBB, TUBA1A, TUBA1B

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

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17Gene Ontology
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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:0442679.1TUBA1A, TUBA1B, TUBA1C
3protein foldingGO:0064579.0TUBA1B, TUBA1A, TUBA1C
4cytoskeleton-dependent intracellular transportGO:0307058.9TUBA1B, TUBA1A, TUBB, TUBA1C
5protein polymerizationGO:0512588.9TUBA1C, TUBB, TUBA1A, TUBA1B
6mitotic cell cycleGO:0002788.9CLIP1, TUBA1A, TUBB
7microtubule-based processGO:0070178.9TUBB, TUBA1A, TUBA1B, TUBA1C
8cell divisionGO:0513018.8TUBB, TUBA1B, TUBA1A, TUBA1C

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

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

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Distal Hereditary Motor Neuropathy, Type Ii

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet