MCID: DST027
MIFTS: 29

Distal Hereditary Motor Neuropathy, Type Ii malady

Genetic diseases, Neuronal diseases, Rare diseases, Muscle diseases categories
Download this MalaCard

Summaries for Distal Hereditary Motor Neuropathy, Type Ii

About this section
Sources:
33MalaCards
See all sources

Fully expand this MalaCard
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

About this section
Sources:
21Genetics Home Reference
See all sources

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 21
distal hereditary motor neuronopathy, type ii 21


Related Diseases for Distal Hereditary Motor Neuropathy, Type Ii

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

About this section

Drugs & Therapeutics for Distal Hereditary Motor Neuropathy, Type Ii

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials
See all sources

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

About this section

Anatomical Context for Distal Hereditary Motor Neuropathy, Type Ii

About this section

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

About this section

Publications for Distal Hereditary Motor Neuropathy, Type Ii

About this section
Sources:
52PubMed
See all sources

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

About this section

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

About this section
Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
50PathCards, 55Reactome, 38NCBI BioSystems Database, 60Thomson Reuters, 53QIAGEN, 30KEGG, 12EMD Millipore, 5Cell Signaling Technology
See all sources

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 Pathway60
8.8TUBA1B, TUBB, TUBA1A, TUBA1C
5
Show member pathways
Cytoskeleton remodeling Reverse signaling by ephrin B60
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 Neurofilaments60
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 repulsion60
Pathogenic Escherichia coli infection38
8.8TUBA1A, TUBB, TUBA1B, TUBA1C
148.7TUBA1B, CLIP1, TUBB, TUBA1A

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

About this section
Sources:
45Novoseek, 11DrugBank, 51PharmGKB, 61Tocris Bioscience, 3BitterDB, 29IUPHAR, 24HMDB
See all sources

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

(show all 17)
idCompoundScoreTop Affiliating Genes
1albendazole45 1111.0TUBA1A, TUBB
2pironetin459.8TUBB, TUBA1B
3podophyllotoxin459.7TUBA1B, TUBB
4estramustine45 1110.6TUBB, TUBA1B
5vinblastine45 51 1111.5TUBB, TUBA1A, TUBA1B
6cyanogen bromide459.5TUBB, TUBA1B
7rrna459.3TUBA1B, TUBB
8gdp459.3ARF3, TUBA1B, TUBB
9nocodazole45 1110.1TUBA1B, CLIP1, TUBB
10vinblastine sulfate619.1TUBA1B, TUBB, TUBA1A, TUBA1C
11vinorelbine ditartrate619.1TUBA1C, TUBA1B, TUBB, TUBA1A
12epothilone b45 61 1111.1TUBB, TUBA1B, TUBA1C, TUBA1A
13colchicine45 61 3 29 1113.0TUBB, TUBA1C, TUBA1B, TUBA1A
14docetaxel45 51 61 1112.0TUBA1C, TUBA1B, TUBB, TUBA1A
15hydrogen45 2410.0CLIP1, TUBB, TUBA1B
16gtp45 299.8ARF3, CLIP1, TUBA1B, TUBB
17Guanosine triphosphate248.6TUBA1C, ARF3, TUBB, TUBA1A, TUBA1B

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

About this section
Sources:
16Gene Ontology
See all sources

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Distal Hereditary Motor Neuropathy, Type Ii

About this section
4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet