MCID: DST027
MIFTS: 29

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:
65UMLS, 23Genetics Home Reference, 51Orphanet, 28ICD10 via Orphanet
See all sources

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

Name: Distal Hereditary Motor Neuropathy, Type Ii 23
Distal Hereditary Motor Neuronopathy, Type Ii 23
Distal Hereditary Motor Neuropathy Type 2 51
Distal Spinal Muscular Atrophy Type 2 51
 
Spinal Muscular Atrophy, Jerash Type 65
Dhmn2 51
Dsma2 51


Classifications:



Characteristics (Orphanet epidemiological data):

51
distal hereditary motor neuropathy type 2:
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult


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Orphanet51 139525
ICD10 via Orphanet28 G12.2

Summaries for Distal Hereditary Motor Neuropathy, Type Ii

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Genetics Home Reference:23 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 Cytoskeletal Signaling and EphB-EphrinB Signaling. 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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Interventional clinical trials:

Search ClinicalTrials, 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:

33
Spinal cord

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

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MGI Mouse Phenotypes related to Distal Hereditary Motor Neuropathy, Type Ii:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

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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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 11)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.0CLIP1, TUBA1A, TUBA1B, TUBB
2
Show member pathways
8.9TUBA1A, TUBA1B, TUBA1C, TUBB
3
Show member pathways
8.9TUBA1A, TUBA1B, TUBA1C, TUBB
4
Show member pathways
8.9TUBA1A, TUBA1B, TUBA1C, TUBB
5
Show member pathways
8.9TUBA1A, TUBA1B, TUBA1C, TUBB
68.9TUBA1A, TUBA1B, TUBA1C, TUBB
78.9TUBA1A, TUBA1B, TUBA1C, TUBB
8
Show member pathways
8.9TUBA1A, TUBA1B, TUBA1C, TUBB
9
Show member pathways
8.9TUBA1A, TUBA1B, TUBA1C, TUBB
10
Show member pathways
8.9TUBA1A, TUBA1B, TUBA1C, TUBB
11
Show member pathways
8.9TUBA1A, TUBA1B, TUBA1C, TUBB

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
1cytoplasmic ribonucleoprotein granuleGO:003646410.1TUBA1A, TUBB
2cytoplasmic microtubuleGO:00058819.2CLIP1, TUBA1A, TUBA1B, TUBA1C
3protein complexGO:00432348.9TUBA1A, TUBA1B, TUBA1C, TUBB
4microtubuleGO:00058748.3CLIP1, TUBA1A, TUBA1B, TUBA1C, TUBB

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1response to unfolded proteinGO:000698610.0HSPB1, HSPB3
2de novo posttranslational protein foldingGO:00510849.6TUBA1A, TUBA1B, TUBA1C
3cytoskeleton-dependent intracellular transportGO:00307059.4TUBA1A, TUBA1B, TUBA1C, TUBB
4microtubule-based processGO:00070179.4TUBA1A, TUBA1B, TUBA1C, TUBB
5protein polymerizationGO:00512589.2TUBA1A, TUBA1B, TUBA1C, TUBB
6protein foldingGO:00064579.2TUBA1A, TUBA1B, TUBA1C
7cell divisionGO:00513018.9TUBA1A, TUBA1B, TUBA1C, TUBB

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

idNameGO IDScoreTop Affiliating Genes
1structural molecule activityGO:00051989.0TUBA1A, TUBA1B, TUBA1C, TUBB
2structural constituent of cytoskeletonGO:00052008.9TUBA1A, TUBA1B, TUBA1C, TUBB
3GTPase activityGO:00039248.4ARF3, TUBA1A, TUBA1B, TUBA1C, TUBB
4GTP bindingGO:00055258.1ARF3, TUBA1A, TUBA1B, TUBA1C, TUBB

Sources for Distal Hereditary Motor Neuropathy, Type Ii

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet