MCID: DST027
MIFTS: 30

Distal Hereditary Motor Neuropathy, Type Ii malady

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Muscle diseases

Aliases & Classifications for Distal Hereditary Motor Neuropathy, Type Ii

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Sources:
25Genetics Home Reference, 31ICD10 via Orphanet, 54Orphanet, 68UMLS
See all MalaCards sources

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

Name: Distal Hereditary Motor Neuropathy, Type Ii 25
Distal Hereditary Motor Neuronopathy, Type Ii 25
Distal Hereditary Motor Neuropathy Type 2 54
Distal Spinal Muscular Atrophy Type 2 54
 
Spinal Muscular Atrophy, Jerash Type 68
Dhmn2 54
Dsma2 54

Characteristics:

Orphanet epidemiological data:

54
distal hereditary motor neuropathy type 2:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult

Classifications:



External Ids:

Orphanet54 ORPHA139525
ICD10 via Orphanet31 G12.2

Summaries for Distal Hereditary Motor Neuropathy, Type Ii

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Genetics Home Reference:25 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 spinal muscular atrophy, distal, autosomal recessive, 2 and neuronopathy, distal hereditary motor, type i. An important gene associated with Distal Hereditary Motor Neuropathy, Type Ii is HSPB8 (Heat Shock Protein Family B (Small) Member 8), and among its related pathways are Cytoskeletal Signaling and Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding. Affiliated tissues include spinal cord, and related mouse phenotypes are Increased number of mitotic cells and Decreased shRNA abundance (Z-score < -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 & Phenotypes for Distal Hereditary Motor Neuropathy, Type Ii

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GenomeRNAi Phenotypes related to Distal Hereditary Motor Neuropathy, Type Ii according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00098-A-38.5TUBA1A, TUBA1B, TUBA1C, TUBB
2GR00366-A-587.4CLIP1, TUBA1A, TUBA1B, TUBA1C, TUBA1A, TUBA1B

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:

36
Spinal cord

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
Construction of a PAC contig within the distal hereditary motor neuropathy type II candidate region at 12q24. (10586274)
1999
5
Distal hereditary motor neuropathy type II (distal HMN type II): phenotype and molecular genetics. (10586231)
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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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:

idSuper pathwaysScoreTop Affiliating Genes
18.9CLIP1, TUBA1A, TUBA1B, TUBB
2
Show member pathways
8.8TUBA1A, TUBA1B, TUBA1C
3
Show member pathways
8.8TUBA1A, TUBA1B, TUBA1C
4
Show member pathways
8.5TUBA1A, TUBA1B, TUBA1C, TUBB
5
Show member pathways
8.5TUBA1A, TUBA1B, TUBA1C, TUBB
6
Show member pathways
8.5TUBA1A, TUBA1B, TUBA1C, TUBB
7
Show member pathways
8.5TUBA1A, TUBA1B, TUBA1C, TUBB
88.5TUBA1A, TUBA1B, TUBA1C, TUBB
9
Show member pathways
8.5TUBA1A, TUBA1B, TUBA1C, TUBB
108.5TUBA1A, 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:003646410.4TUBA1A, TUBB
2cytoplasmic microtubuleGO:00058819.1CLIP1, TUBA1A, TUBA1B, TUBA1C
3microtubuleGO:00058748.1CLIP1, TUBA1A, TUBA1B, TUBA1C, TUBB

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

idNameGO IDScoreTop Affiliating Genes
1response to unfolded proteinGO:00069869.9HSPB1, HSPB3
2cell divisionGO:00513019.0TUBA1A, TUBA1B, TUBA1C, TUBB
3cytoskeleton-dependent intracellular transportGO:00307059.0TUBA1A, TUBA1B, TUBA1C, TUBB
4microtubule-based processGO:00070178.9TUBA1A, TUBA1B, TUBA1C, TUBB

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

idNameGO IDScoreTop Affiliating Genes
1structural constituent of cytoskeletonGO:00052009.1TUBA1A, TUBA1B, TUBA1C, TUBB
2GTP bindingGO:00055258.7ARF3, TUBA1A, TUBA1B, TUBA1C, TUBB
3GTPase activityGO:00039248.6ARF3, TUBA1A, TUBA1B, TUBA1C, TUBB
4structural molecule activityGO:00051988.5TUBA1A, TUBA1B, TUBA1C, TUBB

Sources for Distal Hereditary Motor Neuropathy, Type Ii

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet