MCID: DST027
MIFTS: 31

Distal Hereditary Motor Neuropathy, Type Ii

Categories: Neuronal diseases, Rare diseases, Muscle diseases

Aliases & Classifications for Distal Hereditary Motor Neuropathy, Type Ii

MalaCards integrated aliases for Distal Hereditary Motor Neuropathy, Type Ii:

Name: Distal Hereditary Motor Neuropathy, Type Ii 25
Neuropathy, Motor, Distal, Hereditary, Type Ii 40
Distal Hereditary Motor Neuronopathy, Type Ii 25
Distal Hereditary Motor Neuropathy Type 2 59
Distal Spinal Muscular Atrophy Type 2 59
Spinal Muscular Atrophy, Jerash Type 73
Dsma2 59
Dhmn2 59

Characteristics:

Orphanet epidemiological data:

59
distal hereditary motor neuropathy type 2
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Orphanet 59 ORPHA139525
ICD10 via Orphanet 34 G12.2
UMLS via Orphanet 74 C1854023 C3711384

Summaries for Distal Hereditary Motor Neuropathy, Type Ii

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 neuropathy, motor, distal, hereditary, 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/superpathways are Apoptosis Modulation and Signaling and Development Slit-Robo signaling. Affiliated tissues include spinal cord, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Related Diseases for Distal Hereditary Motor Neuropathy, Type Ii

Diseases in the Distal Hereditary Motor Neuropathies family:

Distal Hereditary Motor Neuropathy, Type Ii Distal Hereditary Motor Neuropathy, Type V
Distal Hereditary Motor Neuropathy Type 7

Diseases related to Distal Hereditary Motor Neuropathy, Type Ii via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spinal muscular atrophy, distal, autosomal recessive, 2 11.2
2 neuropathy 10.4
3 distal hereditary motor neuropathies 10.4
4 pancreatitis 10.0
5 charcot-marie-tooth disease, axonal, type 2k 9.6 HSPB3 HSPB8 TUBB
6 charcot-marie-tooth disease, axonal, type 2f 9.2 HSPB1 HSPB3
7 charcot-marie-tooth disease, axonal, type 2l 8.9 CLIP1 HSPB1 HSPB3 HSPB8

Graphical network of the top 20 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

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-134 10.02 TUBA1A
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 10.02 CLIP1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 10.02 TUBA1A TUBA1B TUBA1C CLIP1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-181 10.02 TUBA1A TUBA1B TUBA1C
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-206 10.02 CLIP1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 10.02 CLIP1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-61 10.02 TUBA1A
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-65 10.02 TUBA1A
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-86 10.02 CLIP1
10 Increased number of mitotic cells GR00098-A-3 8.92 TUBA1A TUBA1B TUBA1C TUBB

Drugs & Therapeutics for Distal Hereditary Motor Neuropathy, Type Ii

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

Genetic Tests for Distal Hereditary Motor Neuropathy, Type Ii

Anatomical Context for Distal Hereditary Motor Neuropathy, Type Ii

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

41
Spinal Cord

Publications for Distal Hereditary Motor Neuropathy, Type Ii

Articles related to Distal Hereditary Motor Neuropathy, Type Ii:

# Title Authors Year
1
A clinical phenotype of distal hereditary motor neuronopathy type II with a novel HSPB1 mutation. ( 18952241 )
2009
2
Mutation analysis of 12 candidate genes for distal hereditary motor neuropathy type II (distal HMN II) linked to 12q24.3. ( 12090300 )
2002
3
Exclusion of 5 functional candidate genes for distal hereditary motor neuropathy type II (distal HMN II) linked to 12q24.3. ( 11851982 )
2001
4
A clone contig of 12q24.3 encompassing the distal hereditary motor neuropathy type II gene. ( 10777663 )
2000
5
Construction of a PAC contig within the distal hereditary motor neuropathy type II candidate region at 12q24. ( 10586274 )
1999
6
Distal hereditary motor neuropathy type II (distal HMN type II): phenotype and molecular genetics. ( 10586231 )
1999
7
Mutation analysis of the human pancreatic phospholipase A2 gene in a family with distal hereditary motor neuropathy type II linked to 12q24. ( 9058425 )
1997
8
Distal hereditary motor neuropathy type II (distal HMN II): mapping of a locus to chromosome 12q24. ( 8817349 )
1996
9
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

Expression for Distal Hereditary Motor Neuropathy, Type Ii

Search GEO for disease gene expression data for Distal Hereditary Motor Neuropathy, Type Ii.

Pathways for Distal Hereditary Motor Neuropathy, Type Ii

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

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.51 HSPB1 TUBA1A TUBA1B TUBA1C
2
Show member pathways
12.25 TUBA1A TUBA1B TUBA1C TUBB
3 12.22 CLIP1 TUBA1A TUBA1B TUBB
4
Show member pathways
12.09 TUBA1A TUBA1B TUBA1C
5
Show member pathways
12.09 TUBA1A TUBA1B TUBA1C TUBB
6 11.9 TUBA1A TUBA1B TUBA1C
7
Show member pathways
11.89 TUBA1A TUBA1B TUBA1C TUBB
8 11.8 TUBA1A TUBA1B TUBA1C TUBB
9
Show member pathways
11.74 TUBA1A TUBA1B TUBA1C
10
Show member pathways
11.72 TUBA1A TUBA1B TUBA1C TUBB
11
Show member pathways
11.49 TUBA1A TUBA1B TUBA1C TUBB
12 11.23 TUBA1A TUBA1B TUBA1C TUBB
13 10.87 TUBA1A TUBA1B TUBA1C TUBB

GO Terms for Distal Hereditary Motor Neuropathy, Type Ii

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

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.8 CLIP1 HSPB1 TUBA1A TUBA1B TUBA1C TUBB
2 membrane raft GO:0045121 9.54 TUBA1A TUBA1B TUBB
3 cytoplasmic microtubule GO:0005881 9.33 CLIP1 TUBA1A TUBA1B
4 microtubule cytoskeleton GO:0015630 9.26 CLIP1 TUBA1A TUBA1B TUBA1C
5 microtubule GO:0005874 9.02 CLIP1 TUBA1A TUBA1B TUBA1C TUBB
6 cytoplasm GO:0005737 10 ARF3 CLIP1 DDX23 FBXO38 HSPB1 HSPB3

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

# Name GO ID Score Top Affiliating Genes
1 cell division GO:0051301 9.67 TUBA1A TUBA1B TUBA1C TUBB
2 cytoskeleton organization GO:0007010 9.62 TUBA1A TUBA1B TUBA1C TUBB
3 microtubule cytoskeleton organization GO:0000226 9.56 TUBA1A TUBA1B TUBA1C TUBB
4 mitotic cell cycle GO:0000278 9.55 CLIP1 TUBA1A TUBA1B TUBA1C TUBB
5 microtubule-based process GO:0007017 9.26 TUBA1A TUBA1B TUBA1C TUBB
6 cytoskeleton-dependent intracellular transport GO:0030705 8.92 TUBA1A TUBA1B TUBA1C TUBB

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

# Name GO ID Score Top Affiliating Genes
1 structural molecule activity GO:0005198 9.56 TUBA1A TUBA1B TUBA1C TUBB
2 GTP binding GO:0005525 9.55 ARF3 TUBA1A TUBA1B TUBA1C TUBB
3 GTPase activity GO:0003924 9.35 ARF3 TUBA1A TUBA1B TUBA1C TUBB
4 structural constituent of cytoskeleton GO:0005200 8.92 TUBA1A TUBA1B TUBA1C TUBB

Sources for Distal Hereditary Motor Neuropathy, Type Ii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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