DHMN
MCID: DST003
MIFTS: 38

Distal Hereditary Motor Neuropathy (DHMN) malady

Neuronal, Muscle categories

Summaries for Distal Hereditary Motor Neuropathy

Sources:
64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 Distal hereditary motor neuropathies (distal HMN, dHMN) are a genetically and clinically heterogeneous... more...

MalaCards: Distal Hereditary Motor Neuropathy, also known as distal spinal muscular atrophy, is related to neuropathy, distal hereditary motor, type va and axonal neuropathy. An important gene associated with Distal Hereditary Motor Neuropathy is HSPB3 (heat shock 27kDa protein 3), and among its related pathways are Gap junction trafficking and MHC class II antigen presentation. The compounds albendazole and pironetin have been mentioned in the context of this disorder. Affiliated tissues include spinal cord.

Description from OMIM:47 608634,613376,600794,607641,158590

Aliases & Classifications for Distal Hereditary Motor Neuropathy

Sources:
8Disease Ontology, 10DISEASES, 49Orphanet, 61UMLS, 47OMIM, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal, Muscle


Aliases & Descriptions:

distal hereditary motor neuropathy 8 10 49
distal spinal muscular atrophy 49 61
dhmn 49
dsma 49


External Ids:

Disease Ontology8 DOID:0050582
ICD10 via Orphanet26 G12.2

Related Diseases for Distal Hereditary Motor Neuropathy

Sources:
17GeneCards, 18GeneDecks
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Diseases in the neuropathy, distal hereditary motor, type iia family:

distal hereditary motor neuropathy distal hereditary motor neuropathy type v
distal hereditary motor neuropathy, type ii neuropathy, distal hereditary motor, type viib
neuropathy, distal hereditary motor, type va neuropathy, distal hereditary motor, type iib
distal hereditary motor neuropathy type 1

Diseases related to Distal Hereditary Motor Neuropathy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 48)
idRelated DiseaseScoreTop Affiliating Genes
1neuropathy, distal hereditary motor, type va30.6GARS, BSCL2
2axonal neuropathy30.6HSPB1
3muscular atrophy10.8
4spinal muscular atrophy10.8
5distal hereditary motor neuropathy type v10.8
6distal hereditary motor neuropathy type 110.7
7hereditary type 1 neuropathy10.7
8n syndrome10.5
9distal hereditary motor neuropathy, type ii10.5
10charcot-marie-tooth hereditary neuropathy10.5
11neuropathy, distal hereditary motor, jerash type10.5
12autosomal dominant disease10.4
13distal spinal muscular atrophy 410.4
14spinal muscular atrophy, distal, autosomal recessive, 410.4
15neuropathy, distal hereditary motor, type iia10.4
16werdnig-hoffmann disease10.2
17ataxia telangiectasia10.2
18adult spinal muscular atrophy10.2
19juvenile spinal muscular atrophy10.2
20spinal muscular atrophy type 210.2
21distal congenital nonprogressive spinal muscular atrophy10.2
22ataxia10.2
23werdnig-hoffman disease10.2
24tooth disease10.2
25charcot-marie-tooth neuropathy type 110.2
26spastic paraplegia 1710.2
27charcot-marie-tooth disease type 1b10.2
28spinal muscular atrophy with respiratory distress 110.2
29neuromyotonia and axonal neuropathy, autosomal recessive10.2
30hereditary neuropathies10.2
31charcot-marie-tooth disease, type 2a110.2
32charcot-marie-tooth disease, type 2a210.2
33neuronopathy, distal hereditary motor, type viia10.2
34spinal muscular atrophy, distal, autosomal recessive, 510.2
35amyotrophic lateral sclerosis 4, juvenile10.2
36spinal muscular atrophy, distal, x-linked 310.2
37charcot-marie-tooth neuropathy, x-linked dominant, 110.2
38distal spinal muscular atrophy type 310.2
39distal spinal muscular atrophy, type v10.1
40neuropathy10.0GARS, HSPB8
41bscl2-related neurologic disorders/seipinopathy10.0BSCL2
42charcot-marie-tooth disease10.0GARS, HSPB1
43charcot-marie-tooth neuropathy type 210.0HSPB8, HSPB1, GARS
44paraplegia10.0REEP1, BSCL2
45motor neuron disease10.0HSPB8, HSPB1, BSCL2
46amyotrophic lateral sclerosis, type 410.0
47neuronopathy, distal hereditary motor, type vb10.0
48neuronopathy, distal hereditary motor, type iid10.0

Graphical network of the top 20 diseases related to Distal Hereditary Motor Neuropathy:



Diseases related to distal hereditary motor neuropathy

Clinical Features for Distal Hereditary Motor Neuropathy

Sources:
47OMIM
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Clinical features from OMIM:

608634,613376,600794,607641,158590

Drugs & Therapeutics for Distal Hereditary Motor Neuropathy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

Search ClinicalTrials for Distal Hereditary Motor Neuropathy

Search NIH Clinical Center for Distal Hereditary Motor Neuropathy

Search CenterWatch for Distal Hereditary Motor Neuropathy

Genetic Tests for Distal Hereditary Motor Neuropathy

Anatomical Context for Distal Hereditary Motor Neuropathy

Sources:
33MalaCards
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MalaCards organs/tissues related to Distal Hereditary Motor Neuropathy:

33
Spinal cord

Animal Models for Distal Hereditary Motor Neuropathy or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Distal Hereditary Motor Neuropathy

Sources:
51PubMed
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Articles related to Distal Hereditary Motor Neuropathy:

(show all 31)
idTitleAuthorsYear
1
Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy. (24105373)
2013
2
Two novel mutations of GARS in Korean families with distal hereditary motor neuropathy type V. (23279345)
2012
3
Alanyl-tRNA synthetase mutation in a family with dominant distal hereditary motor neuropathy. (22573628)
2012
4
Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V. (22703882)
2012
5
Mutant HSPB8 causes protein aggregates and a reduced mitochondrial membrane potential in dermal fibroblasts from distal hereditary motor neuropathy patients. (22595202)
2012
6
A rare recessive distal hereditary motor neuropathy with HSJ1 chaperone mutation. (22522442)
2012
7
Addendum to 'Recent advances in the genetics of distal hereditary motor neuropathy give insight to a disease mechanism involving copper homeostasis that may extend to other motor neuron disorders'. (21542836)
2011
8
HspB8 mutation causing hereditary distal motor neuropathy impairs lysosomal delivery of autophagosomes. (21985219)
2011
9
Recent advances in the genetics of distal hereditary motor neuropathy give insight to a disease mechanism involving copper homeostasis that may extend to other motor neuron disorders. (21143467)
2011
10
Missense mutations in the copper transporter gene ATP7A cause X- linked distal hereditary motor neuropathy. (20170900)
2010
11
Heat shock protein 27 R127W mutation: evidence of a continuum between axonal Charcot-Marie-Tooth and distal hereditary motor neuropathy. (20660910)
2010
12
N88S mutation in the BSCL2 gene in a Serbian family with distal hereditary motor neuropathy type V or Silver syndrome. (20598714)
2010
13
Cranial nerves palsy as an initial feature of an early onset distal hereditary motor neuropathy--a new distal hereditary motor neuropathy phenotype. (19409784)
2009
14
X-linked distal hereditary motor neuropathy maps to the DSMAX locus on chromosome Xq13.1-q21. (19153371)
2009
15
Distal hereditary motor neuropathy in Korean patients with a small heat shock protein 27 mutation. (18587268)
2008
16
Isolated vitamin E deficiency mimicking distal hereditary motor neuropathy in a 13-year-old boy. (18984846)
2008
17
Identification of de novo BSCL2 Ser90Leu mutation in a Korean family with Silver syndrome and distal hereditary motor neuropathy. (17486577)
2007
18
The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V. (16769947)
2006
19
BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy. (16427281)
2006
20
Small heat shock protein 27 mutation in a Japanese patient with distal hereditary motor neuropathy. (16155736)
2005
21
Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. (15122254)
2004
22
Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. (14981520)
2004
23
Mutation analysis of 12 candidate genes for distal hereditary motor neuropathy type II (distal HMN II) linked to 12q24.3. (12090300)
2002
24
Exclusion of 5 functional candidate genes for distal hereditary motor neuropathy type II (distal HMN II) linked to 12q24.3. (11851982)
2001
25
A clone contig of 12q24.3 encompassing the distal hereditary motor neuropathy type II gene. (10777663)
2000
26
Distal hereditary motor neuropathy type II (distal HMN type II): phenotype and molecular genetics. (10586231)
1999
27
Construction of a PAC contig within the distal hereditary motor neuropathy type II candidate region at 12q24. (10586274)
1999
28
2nd Workshop of the European CMT Consortium: 53rd ENMC International Workshop on Classification and Diagnostic Guidelines for Charcot-Marie-Tooth Type 2 (CMT2-HMSN II) and Distal Hereditary Motor Neuropathy (distal HMN-Spinal CMT) 26-28 September 1997, Naarden, The Netherlands. (9713862)
1998
29
Mutation analysis of the human pancreatic phospholipase A2 gene in a family with distal hereditary motor neuropathy type II linked to 12q24. (9058425)
1997
30
Distal hereditary motor neuropathy type II (distal HMN II): mapping of a locus to chromosome 12q24. (8817349)
1996
31
Linkage analysis of distal hereditary motor neuropathy type II (distal HMN II) in a single pedigree. (1517763)
1992

Genetic Variations for Distal Hereditary Motor Neuropathy

Expression for genes affiliated with Distal Hereditary Motor Neuropathy

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Distal Hereditary Motor Neuropathy

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

Pathways for genes affiliated with Distal Hereditary Motor Neuropathy

Sources:
54Reactome, 38NCBI BioSystems Database, 12EMD Millipore, 30KEGG, 52QIAGEN, 4Cell Signaling Technology
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Pathways related to Distal Hereditary Motor Neuropathy according to GeneCards/GeneDecks:

(show all 22)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
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10.0TUBA1C, TUBA1A, TUBA1B
2
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10.0TUBA1C, TUBA1A, TUBA1B
310.0TUBA1C, TUBA1A, TUBA1B
4
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10.0TUBA1B, TUBA1A, TUBA1C
5
Hide members
10.0TUBA1B, TUBA1A, TUBA1C
6
Hide members
10.0TUBA1B, TUBA1A, TUBA1C
7
Development Slit-Robo signaling
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9.9TUBA1C, TUBA1A, TUBA1B, TUBB
8
Cell cycle Spindle assembly and chromosome separation
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9.9TUBA1C, TUBA1A, TUBA1B, TUBB
99.9TUBA1C, TUBA1A, TUBA1B, TUBB
10
wtCFTR and deltaF508 traffic / Membrane expression (norm and CF)
9.9TUBA1C, TUBA1A, TUBA1B, TUBB
11
Cell adhesion Gap junctions
Hide members
9.9TUBB, TUBA1B, TUBA1A, TUBA1C
12
Hide members
9.9TUBB, TUBA1B, TUBA1A, TUBA1C
13
Hide members
9.9TUBB, TUBA1B, TUBA1A, TUBA1C
149.9TUBB, TUBA1B, TUBA1A, TUBA1C
159.9TUBB, TUBA1B, TUBA1A, TUBA1C
16
Hide members
9.9TUBB, TUBA1B, TUBA1A, TUBA1C
17
Cytoskeleton remodeling Reverse signaling by ephrin B
Hide members
9.9TUBB, TUBA1B, TUBA1A, TUBA1C
18
Hide members
9.9TUBB, TUBA1B, TUBA1A, TUBA1C
199.9TUBB, TUBA1B, TUBA1A, CLIP1
20
Hide members
9.9TUBA1B, TUBA1A, TUBA1C, CLIP1
21
Hide members
9.9TUBA1B, TUBA1A, TUBA1C, CLIP1
22
Hide members
9.8CLIP1, TUBA1C, TUBA1A, TUBA1B, TUBB

Compounds for genes affiliated with Distal Hereditary Motor Neuropathy

Sources:
45Novoseek, 11DrugBank, 50PharmGKB, 60Tocris Bioscience, 2BitterDB, 29IUPHAR
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Compounds related to Distal Hereditary Motor Neuropathy according to GeneCards/GeneDecks:

(show all 19)
idCompoundScoreTop Affiliating Genes
1albendazole45 1111.5TUBB, TUBA1A
2pironetin4510.5TUBA1B, TUBB
3podophyllotoxin4510.4TUBA1B, TUBB
41-oleoyl-2-acetyl-sn-glycerol4510.4HSPB1, PLA2G1B
52-MERCAPTO-N-[1,2,3,10-TETRAMETHOXY-9-OXO-5,6,7,9-TETRAHYDRO-BENZO[A]HEPTALEN-7-YL]ACETAMIDE1110.3TUBA1B, TUBA1A, TUBA1C
6melittin4510.3HSPB1, PLA2G1B
7vinblastine45 50 1112.3TUBA1A, TUBA1B, TUBB
8Epothilone D1110.2TUBA1C, TUBA1A, TUBA1B, TUBB
9vinorelbine ditartrate6010.2TUBB, TUBA1B, TUBA1A, TUBA1C
10vinblastine sulfate6010.2TUBB, TUBA1B, TUBA1A, TUBA1C
11epothilone b60 45 1112.2TUBA1C, TUBA1A, TUBA1B, TUBB
12docetaxel45 50 60 1113.2TUBA1C, TUBA1A, TUBA1B, TUBB
13colchicine60 45 2 29 1114.1HSPB1, TUBB, TUBA1B, TUBA1A, TUBA1C
14nocodazole45 1111.1CLIP1, TUBA1B, TUBB
15sodium dodecylsulfate4510.1TUBA1B, TUBB, HSPB1
16vincristine45 50 1112.0HSPB1, TUBB, TUBA1B
17estramustine45 1110.9TUBA1B, TUBB
18gtp45 2910.9CLIP1, ARF3, TUBA1B, TUBB
19atp45 2910.8PLA2G1B, TTPA, GARS, TUBA1B, TUBB, HSPB1

GO Terms for genes affiliated with Distal Hereditary Motor Neuropathy

Sources:
16Gene Ontology
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Cellular components related to Distal Hereditary Motor Neuropathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1microtubuleGO:0058749.8CLIP1, TUBA1C, TUBA1A, TUBA1B, TUBB
2microtubule cytoskeletonGO:0156309.7CLIP1, TUBA1C, TUBA1A, TUBA1B, TUBB
3cytoplasmic microtubuleGO:0058819.6TUBA1B, TUBA1A, TUBA1C, CLIP1

Biological processes related to Distal Hereditary Motor Neuropathy according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1cytoskeleton-dependent intracellular transportGO:03070510.1TUBA1C, TUBA1A, TUBA1B, TUBB
2de novo posttranslational protein foldingGO:05108410.0TUBA1C, TUBA1A, TUBA1B
3microtubule-based processGO:00701710.0TUBA1C, TUBA1A, TUBA1B, TUBB
4protein polymerizationGO:05125810.0TUBB, TUBA1B, TUBA1A, TUBA1C
5cell divisionGO:0513019.9TUBA1C, TUBA1A, TUBA1B, TUBB
6response to unfolded proteinGO:0069869.9DNAJB2, HSPB3, HSPB1
7cell deathGO:0082199.9HSPB8, HSPB1, HSPB3, GARS, BSCL2, DNAJB2
8protein foldingGO:0064579.8TUBA1B, TUBA1A, TUBA1C, DNAJB2

Molecular functions related to Distal Hereditary Motor Neuropathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1structural molecule activityGO:0051989.9TUBA1C, TUBA1A, TUBA1B, TUBB
2structural constituent of cytoskeletonGO:0052009.8TUBB, TUBA1B, TUBA1A, TUBA1C
3GTPase activityGO:0039249.8ARF3, TUBA1C, TUBA1A, TUBA1B, TUBB
4GTP bindingGO:0055259.5TUBB, TUBA1B, TUBA1A, TUBA1C, ARF3

Products for genes affiliated with Distal Hereditary Motor Neuropathy

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Distal Hereditary Motor Neuropathy

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet