MCID: DST027
MIFTS: 31

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

About this section
Sources:
24Genetics Home Reference, 52Orphanet, 66UMLS, 29ICD10 via Orphanet
See all MalaCards sources

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

Name: Distal Hereditary Motor Neuropathy, Type Ii 24
Distal Hereditary Motor Neuronopathy, Type Ii 24
Distal Hereditary Motor Neuropathy Type 2 52
Distal Spinal Muscular Atrophy Type 2 52
 
Spinal Muscular Atrophy, Jerash Type 66
Dhmn2 52
Dsma2 52

Characteristics:

Orphanet epidemiological data:

52
distal hereditary motor neuropathy type 2:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult

Classifications:



External Ids:

Orphanet52 ORPHA139525
ICD10 via Orphanet29 G12.2

Summaries for Distal Hereditary Motor Neuropathy, Type Ii

About this section
Genetics Home Reference:24 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 Cytoskeletal Signaling and Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding. Affiliated tissues include spinal cord.

Related Diseases for Distal Hereditary Motor Neuropathy, Type Ii

About this section

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

About this section

Drugs & Therapeutics for Distal Hereditary Motor Neuropathy, Type Ii

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Distal Hereditary Motor Neuropathy, Type Ii

Genetic Tests for Distal Hereditary Motor Neuropathy, Type Ii

About this section

Anatomical Context for Distal Hereditary Motor Neuropathy, Type Ii

About this section

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

34
Spinal cord

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

About this section

Publications for Distal Hereditary Motor Neuropathy, Type Ii

About this section

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

About this section

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

About this section
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

About this section

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

(show all 11)
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
8
Show member pathways
8.5TUBA1A, TUBA1B, TUBA1C, TUBB
98.5TUBA1A, TUBA1B, TUBA1C, TUBB
10
Show member pathways
8.5TUBA1A, TUBA1B, TUBA1C, TUBB
118.5TUBA1A, TUBA1B, TUBA1C, TUBB

GO Terms for genes affiliated with Distal Hereditary Motor Neuropathy, Type Ii

About this section

Cellular components related to Distal Hereditary Motor Neuropathy, Type Ii according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic ribonucleoprotein granuleGO:003646410.2TUBA1A, TUBB
2cytoplasmic microtubuleGO:00058818.8CLIP1, 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
2cytoskeleton-dependent intracellular transportGO:00307059.0TUBA1A, TUBA1B, TUBA1C, TUBB
3microtubule-based processGO:00070178.6TUBA1A, TUBA1B, TUBA1C, TUBB
4cell divisionGO:00513018.4TUBA1A, 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:00051988.8TUBA1A, TUBA1B, TUBA1C, TUBB
2structural constituent of cytoskeletonGO:00052008.7TUBA1A, TUBA1B, TUBA1C, TUBB
3GTPase activityGO:00039248.0ARF3, TUBA1A, TUBA1B, TUBA1C, TUBB
4GTP bindingGO:00055258.0ARF3, TUBA1A, TUBA1B, TUBA1C, TUBB

Sources for Distal Hereditary Motor Neuropathy, Type Ii

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet