MCID: DST027
MIFTS: 33

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

Characteristics:

Orphanet epidemiological data:

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

Classifications:



External Ids:

Orphanet51 139525
ICD10 via Orphanet28 G12.2
UMLS65 C1854023

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 spinal muscular atrophy, distal, autosomal recessive, 2 and neuropathy. 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 Chaperonin-mediated protein folding and EphB-EphrinB Signaling. Affiliated tissues include spinal cord, prostate and heart.

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, Prostate, Heart

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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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
1
Show member pathways
8.5TUBA1A, TUBA1B, TUBA1C, TUBB
2
Show member pathways
8.5TUBA1A, TUBA1B, TUBA1C, TUBB
3
Show member pathways
8.5TUBA1A, TUBA1B, TUBA1C, TUBB
4
Show member pathways
8.5TUBA1A, TUBA1B, TUBA1C, TUBB
5
Show member pathways
8.5TUBA1A, TUBA1B, TUBA1C, TUBB
68.5TUBA1A, TUBA1B, TUBA1C, TUBB
7
Show member pathways
8.5TUBA1A, TUBA1B, TUBA1C, TUBB
8
Show member pathways
8.5TUBA1A, 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
1microtubuleGO:00058749.3CLIP1, TUBA1C

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

idNameGO IDScoreTop Affiliating Genes
1cytoskeleton-dependent intracellular transportGO:00307059.0TUBA1A, TUBA1B, TUBA1C
2de novo posttranslational protein foldingGO:00510849.0TUBA1B, TUBA1C
3microtubule-based processGO:00070178.5TUBA1A, 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