MCID: DST027
MIFTS: 33

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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Genetics Home Reference:21 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.

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 Prefoldin mediated transfer of substrate to CCT/TriC and Protein folding. The compounds albendazole and vinorelbine have been mentioned in the context of this disorder. Affiliated tissues include spinal cord.

Aliases & Classifications for Distal Hereditary Motor Neuropathy, Type Ii

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Sources:
60UMLS, 21Genetics Home Reference, 47Orphanet, 26ICD10 via Orphanet
See all sources

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

Name: Distal Hereditary Motor Neuropathy, Type Ii 21
Distal Hereditary Motor Neuronopathy, Type Ii 21
Distal Hereditary Motor Neuropathy Type 2 47
Distal Spinal Muscular Atrophy Type 2 47
 
Spinal Muscular Atrophy, Jerash Type 60
Dhmn2 47
Dsma2 47


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
distal hereditary motor neuropathy type 2:
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult


External Ids:

Orphanet47 139525
ICD10 via Orphanet26 G12.2

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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MalaCards organs/tissues related to Distal Hereditary Motor Neuropathy, Type Ii:

31
Spinal cord

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

Variations for Distal Hereditary Motor Neuropathy, Type Ii

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Clinvar genetic disease variations for Distal Hereditary Motor Neuropathy, Type Ii:

6 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1HSPB8NM_014365.2(HSPB8): c.423G> C (p.Lys141Asn)single nucleotide variantPathogenicrs104894345GRCh37Chr 12, 119624885: 119624885
2HSPB8NM_014365.2(HSPB8): c.421A> G (p.Lys141Glu)single nucleotide variantPathogenicrs104894351GRCh37Chr 12, 119624883: 119624883
3HSPB3NM_006308.2(HSPB3): c.21G> T (p.Arg7Ser)single nucleotide variantPathogenicrs139382018GRCh37Chr 5, 53751640: 53751640
4HSPB1NM_001540.3(HSPB1): c.404C> T (p.Ser135Phe)single nucleotide variantPathogenicrs28939680GRCh37Chr 7, 75933158: 75933158
5HSPB1NM_001540.3(HSPB1): c.379C> T (p.Arg127Trp)single nucleotide variantPathogenicrs29001571GRCh37Chr 7, 75933133: 75933133
6HSPB1NM_001540.3(HSPB1): c.452C> T (p.Thr151Ile)single nucleotide variantPathogenicrs28937568GRCh37Chr 7, 75933324: 75933324
7HSPB1NM_001540.3(HSPB1): c.545C> T (p.Pro182Leu)single nucleotide variantPathogenicrs28937569GRCh37Chr 7, 75933417: 75933417
8HSPB1NM_001540.3(HSPB1): c.544C> T (p.Pro182Ser)single nucleotide variantPathogenicrs104894020GRCh37Chr 7, 75933416: 75933416
9HSPB1NM_001540.3(HSPB1): c.418C> G (p.Arg140Gly)single nucleotide variantPathogenicrs121909112GRCh37Chr 7, 75933172: 75933172
10HSPB1NM_001540.3(HSPB1): c.295C> A (p.Leu99Met)single nucleotide variantLikely pathogenicrs121909113GRCh37Chr 7, 75932324: 75932324
11FBXO38NM_001271723.1(FBXO38): c.616T> C (p.Cys206Arg)single nucleotide variantPathogenicrs398122838GRCh37Chr 5, 147784271: 147784271

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

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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 Suite gene sharing:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1TUBA1C, TUBA1B, TUBA1A
2
Show member pathways
9.1TUBA1A, TUBA1B, TUBA1C
38.8TUBA1C, TUBA1B, TUBB, TUBA1A
4
Show member pathways
8.8TUBA1C, TUBA1B, TUBB, TUBA1A
5
Show member pathways
Proteolysis Role of Parkin in the Ubiquitin Proteasomal Pathway58
8.8TUBA1C, TUBA1B, TUBB, TUBA1A
68.8TUBA1A, TUBB, TUBA1B, TUBA1C
7
Show member pathways
Neurophysiological process Receptor mediated axon growth repulsion58
Pathogenic Escherichia coli infection36
Cytoskeleton remodeling Slit Robo signaling
8.8TUBA1A, TUBB, TUBA1B, TUBA1C
88.8TUBA1A, TUBB, TUBA1B, TUBA1C
9
Show member pathways
Cytoskeleton remodeling Reverse signaling by ephrin B58
8.8TUBA1A, TUBB, TUBA1B, TUBA1C
108.8TUBA1A, TUBB, TUBA1B, TUBA1C
11
Show member pathways
8.8TUBA1A, TUBB, TUBA1B, TUBA1C
128.7CLIP1, 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 Suite gene sharing:

(show all 31)
idCompoundScoreTop Affiliating Genes
1albendazole43 1211.2TUBB, TUBA1A
2vinorelbine43 49 1212.1HSPB1, TUBB
3phalloidin4310.0HSPB1, TUBB
4pironetin4310.0TUBB, TUBA1B
5podophyllotoxin4310.0TUBB, TUBA1B
6estramustine43 1210.9TUBB, TUBA1B
7cyanogen bromide439.8TUBB, TUBA1B
82-methoxyestradiol43 59 2411.8HSPB1, TUBB
91-oleoyl-2-acetyl-sn-glycerol439.7HSPB1, PLA2G1B
10melittin439.7PLA2G1B, HSPB1
11sodium dodecylsulfate439.7TUBB, TUBA1B, HSPB1
12vincristine43 49 1211.7HSPB1, TUBA1B, TUBB
13vinblastine43 49 1211.6TUBA1A, TUBB, TUBA1B
14rrna439.6TUBA1B, TUBB
15glyceraldehyde 3-phosphate439.6HSPB1, TUBA1B, TUBB
16polyacrylamide439.5TUBB, TUBA1B, HSPB1
17ndga439.5PLA2G1B, HSPB1
18gdp439.5ARF3, TUBA1B, TUBB
19paclitaxel43 49 1211.4TUBB, TUBA1B, HSPB1
20forskolin43 49 1211.3HSPB1, TUBA1B, TUBB
21nocodazole43 1210.3CLIP1, TUBA1B, TUBB
22vinorelbine ditartrate599.2TUBA1A, TUBB, TUBA1B, TUBA1C
23vinblastine sulfate599.2TUBA1A, TUBB, TUBA1B, TUBA1C
24epothilone b43 59 1211.1TUBA1A, TUBB, TUBA1B, TUBA1C
25docetaxel43 49 59 1212.1TUBA1C, TUBA1B, TUBB, TUBA1A
26hydrogen43 2410.0TUBB, TUBA1B, HSPB1, CLIP1
27gtp43 289.9ARF3, CLIP1, TUBA1B, TUBB
28colchicine43 59 2 28 1212.9HSPB1, TUBA1C, TUBA1B, TUBB, TUBA1A
29h2o2438.8TUBB, TUBA1B, HSPB1, PLA2G1B
30Guanosine triphosphate248.7ARF3, TUBA1C, TUBA1B, TUBB, TUBA1A
31atp43 289.2TUBB, TUBA1B, HSPB1, PLA2G1B

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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular vesicular exosomeGO:00700628.7ARF3, HSPB1, TUBB, TUBA1A, DDX23
2cytoplasmic microtubuleGO:00058818.4CLIP1, TUBA1C, TUBA1B, TUBA1A
3microtubuleGO:00058747.8TUBA1A, TUBB, TUBA1B, TUBA1C, CLIP1

Biological processes related to Distal Hereditary Motor Neuropathy, Type Ii according to GeneCards Suite gene sharing:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1response to unfolded proteinGO:00069869.9HSPB1, HSPB3
2cell deathGO:00082199.4HSPB1, HSPB8, HSPB3
3de novo posttranslational protein foldingGO:00510849.1TUBA1C, TUBA1B, TUBA1A
4protein foldingGO:00064579.0TUBA1A, TUBA1B, TUBA1C
5cytoskeleton-dependent intracellular transportGO:00307058.9TUBA1C, TUBA1B, TUBB, TUBA1A
6protein polymerizationGO:00512588.9TUBA1A, TUBB, TUBA1B, TUBA1C
7microtubule-based processGO:00070178.9TUBA1C, TUBA1B, TUBB, TUBA1A
8cell divisionGO:00513018.8TUBA1A, TUBB, TUBA1B, TUBA1C

Molecular functions related to Distal Hereditary Motor Neuropathy, Type Ii according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1structural molecule activityGO:00051988.8TUBA1C, TUBA1B, TUBB, TUBA1A
2structural constituent of cytoskeletonGO:00052008.7TUBA1A, TUBB, TUBA1B, TUBA1C
3GTPase activityGO:00039248.4ARF3, TUBA1C, TUBA1B, TUBB, TUBA1A
4GTP bindingGO:00055258.1TUBA1A, TUBB, TUBA1B, TUBA1C, ARF3

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

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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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet