DHMN2
MCID: DST027
MIFTS: 30

Distal Hereditary Motor Neuropathy, Type Ii (DHMN2) malady

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

Aliases & Classifications for Distal Hereditary Motor Neuropathy, Type Ii

About this section
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
Dsma2 54
Dhmn2 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

About this section
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 Tight junction and Chaperonin-mediated protein 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

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 & Phenotypes for Distal Hereditary Motor Neuropathy, Type Ii

About this section

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00098-A-38.7TUBA1A, TUBA1B, TUBA1C, TUBB
2GR00366-A-847.7CLIP1, TUBA1A, TUBA1B, TUBA1C, TUBA1A, TUBA1B

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:

36
Spinal cord

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 13)
idSuper pathwaysScoreTop Affiliating Genes
19.0TUBA1A, TUBA1B, TUBA1C
2
Show member pathways
9.0TUBA1A, TUBA1B, TUBA1C
3
Show member pathways
9.0TUBA1A, TUBA1B, TUBA1C
48.9CLIP1, TUBA1A, TUBA1B, TUBB
5
Show member pathways
8.7HSPB1, TUBA1A, TUBA1B, TUBA1C
6
Show member pathways
8.7TUBA1A, TUBA1B, TUBA1C, TUBB
7
Show member pathways
8.7TUBA1A, TUBA1B, TUBA1C, TUBB
8
Show member pathways
8.7TUBA1A, TUBA1B, TUBA1C, TUBB
9
Show member pathways
8.7TUBA1A, TUBA1B, TUBA1C, TUBB
108.7TUBA1A, TUBA1B, TUBA1C, TUBB
11
Show member pathways
8.7TUBA1A, TUBA1B, TUBA1C, TUBB
12
Show member pathways
8.7TUBA1A, TUBA1B, TUBA1C, TUBB
138.7TUBA1A, 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:003646410.5TUBA1A, TUBB
2membrane raftGO:00451219.9TUBA1A, TUBA1B, TUBB
3cytoplasmic microtubuleGO:00058819.4CLIP1, TUBA1A, TUBA1B, TUBA1C
4microtubuleGO:00058748.9CLIP1, TUBA1A, TUBA1B, TUBA1C, TUBB
5cytoskeletonGO:00058568.7CLIP1, HSPB1, TUBA1A, TUBA1B, TUBA1C, TUBB
6microtubule cytoskeletonGO:00156308.3CLIP1, TUBA1A, TUBA1B, TUBA1C, TUBB
7cytoplasmGO:00057377.1ARF3, CLIP1, FBXO38, HSPB1, HSPB3, HSPB8

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

idNameGO IDScoreTop Affiliating Genes
1cell divisionGO:00513019.3TUBA1A, TUBA1B, TUBA1C, TUBB
2cytoskeleton organizationGO:00070109.1TUBA1A, TUBA1B, TUBA1C, TUBB
3cytoskeleton-dependent intracellular transportGO:00307059.1TUBA1A, TUBA1B, TUBA1C, TUBB
4microtubule-based processGO:00070178.7TUBA1A, 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:00052009.3TUBA1A, TUBA1B, TUBA1C, TUBB
2structural molecule activityGO:00051988.7TUBA1A, TUBA1B, TUBA1C, TUBB
3GTP bindingGO:00055258.5ARF3, TUBA1A, TUBA1B, TUBA1C, TUBB
4GTPase activityGO:00039248.5ARF3, TUBA1A, TUBA1B, TUBA1C, TUBB

Sources for Distal Hereditary Motor Neuropathy, Type Ii

About this section
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