MCID: DST027
MIFTS: 33

Distal Hereditary Motor Neuropathy, Type Ii malady

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

Aliases & Classifications for Distal Hereditary Motor Neuropathy, Type Ii

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Sources:
21Genetics Home Reference, 48Orphanet, 61UMLS, 26ICD10 via Orphanet
See all sources

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

Name: Distal Hereditary Motor Neuropathy, Type Ii 21
Distal Hereditary Motor Neuronopathy, Type Ii 21
Distal Hereditary Motor Neuropathy Type 2 48
Distal Spinal Muscular Atrophy Type 2 48
 
Spinal Muscular Atrophy, Jerash Type 61
Dhmn2 48
Dsma2 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
distal hereditary motor neuropathy type 2:
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult


External Ids:

Orphanet48 139525
ICD10 via Orphanet26 G12.2

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.

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:

5 (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 Pathway59
8.8TUBA1C, TUBA1B, TUBB, TUBA1A
68.8TUBA1A, TUBB, TUBA1B, TUBA1C
7
Show member pathways
Neurophysiological process Receptor mediated axon growth repulsion59
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 B59
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
1albendazole44 1111.2TUBA1A, TUBB
2vinorelbine44 50 1112.1HSPB1, TUBB
3phalloidin4410.0HSPB1, TUBB
4pironetin4410.0TUBA1B, TUBB
5podophyllotoxin4410.0TUBA1B, TUBB
6estramustine44 1110.9TUBA1B, TUBB
7cyanogen bromide449.8TUBB, TUBA1B
82-methoxyestradiol44 60 2411.8HSPB1, TUBB
91-oleoyl-2-acetyl-sn-glycerol449.7HSPB1, PLA2G1B
10melittin449.7HSPB1, PLA2G1B
11sodium dodecylsulfate449.7TUBA1B, HSPB1, TUBB
12vincristine44 50 1111.7TUBA1B, TUBB, HSPB1
13vinblastine44 50 1111.6TUBA1A, TUBA1B, TUBB
14rrna449.6TUBA1B, TUBB
15glyceraldehyde 3-phosphate449.6HSPB1, TUBB, TUBA1B
16polyacrylamide449.5TUBA1B, HSPB1, TUBB
17ndga449.5HSPB1, PLA2G1B
18gdp449.5TUBA1B, ARF3, TUBB
19paclitaxel44 50 1111.4HSPB1, TUBA1B, TUBB
20forskolin44 50 1111.3HSPB1, TUBA1B, TUBB
21nocodazole44 1110.3TUBA1B, TUBB, CLIP1
22vinorelbine ditartrate609.2TUBA1B, TUBB, TUBA1C, TUBA1A
23vinblastine sulfate609.2TUBA1C, TUBA1A, TUBA1B, TUBB
24epothilone b44 60 1111.1TUBA1C, TUBA1B, TUBA1A, TUBB
25docetaxel44 50 60 1112.1TUBA1B, TUBA1A, TUBB, TUBA1C
26hydrogen44 2410.0TUBA1B, HSPB1, TUBB, CLIP1
27gtp44 289.9CLIP1, TUBB, ARF3, TUBA1B
28colchicine44 60 1 28 1112.9TUBA1B, TUBB, TUBA1C, HSPB1, TUBA1A
29h2o2448.8TUBA1B, PLA2G1B, TUBB, HSPB1
30Guanosine triphosphate248.7ARF3, TUBA1A, TUBA1B, TUBB, TUBA1C
31atp44 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

Sources for Distal Hereditary Motor Neuropathy, Type Ii

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet