DHMN
MCID: DST003
MIFTS: 42

Distal Hereditary Motor Neuropathy (DHMN) malady

Neuronal diseases, Muscle diseases categories

Summaries for Distal Hereditary Motor Neuropathy

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 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 and neuropathy, distal hereditary motor, type va. 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:46 608634,613376,600794,607641,158590

Aliases & Classifications for Distal Hereditary Motor Neuropathy

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8Disease Ontology, 10DISEASES, 48Orphanet, 60UMLS, 46OMIM, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Aliases & Descriptions:

distal hereditary motor neuropathy 8 10 48
distal spinal muscular atrophy 48 60
dhmn 48
dsma 48


External Ids:

Disease Ontology8 DOID:0050582
SNOMED-CT via Orphanet57 230247001
ICD10 via Orphanet26 G12.2

Related Diseases for Distal Hereditary Motor Neuropathy

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17GeneCards, 18GeneDecks
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Diseases in the Neuropathy, Distal Hereditary Motor, Type Va 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 Iib Neuropathy, Distal Hereditary Motor, Type Iia
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 45)
idRelated DiseaseScoreTop Affiliating Genes
1neuropathy31.4GARS, HSPB8
2neuropathy, distal hereditary motor, type va30.5GARS, BSCL2
3axonal neuropathy30.5HSPB1
4motor neuron disease30.5HSPB8, HSPB1, BSCL2
5charcot-marie-tooth disease30.3GARS, HSPB1
6charcot-marie-tooth neuropathy type 230.3HSPB8, HSPB1, GARS
7muscular atrophy10.8
8spinal muscular atrophy10.8
9distal hereditary motor neuropathy type v10.8
10distal hereditary motor neuropathy, type ii10.5
11charcot-marie-tooth hereditary neuropathy10.5
12neuropathy, distal hereditary motor, jerash type10.5
13distal hereditary motor neuropathy type 110.5
14autosomal dominant disease10.4
15distal spinal muscular atrophy 410.4
16spinal muscular atrophy, distal, autosomal recessive, 410.4
17neuronitis10.4
18cranial nerve palsy10.4
19neuropathy, distal hereditary motor, type iia10.4
20werdnig-hoffmann disease10.2
21ataxia telangiectasia10.2
22adult spinal muscular atrophy10.2
23juvenile spinal muscular atrophy10.2
24chromosomal disease10.2
25distal congenital nonprogressive spinal muscular atrophy10.2
26pancreatitis10.2
27tooth disease10.2
28spastic paraplegia 1710.2
29charcot-marie-tooth disease type 1b10.2
30spinal muscular atrophy with respiratory distress 110.2
31neuromyotonia and axonal neuropathy, autosomal recessive10.2
32charcot-marie-tooth disease, type 2a110.2
33charcot-marie-tooth disease, type 2a210.2
34neuronopathy, distal hereditary motor, type viia10.2
35spinal muscular atrophy, distal, autosomal recessive, 510.2
36amyotrophic lateral sclerosis 4, juvenile10.2
37spinal muscular atrophy, distal, x-linked 310.2
38charcot-marie-tooth neuropathy, x-linked dominant, 110.2
39distal spinal muscular atrophy type 310.2
40distal spinal muscular atrophy, type v10.1
41bscl2-related neurologic disorders/seipinopathy10.0BSCL2
42paraplegia10.0REEP1, BSCL2
43amyotrophic lateral sclerosis, type 49.9
44neuronopathy, distal hereditary motor, type vb9.9
45neuronopathy, distal hereditary motor, type iid9.9

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

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46OMIM
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Clinical features from OMIM:

608634,613376,600794,607641,158590

Drugs & Therapeutics for Distal Hereditary Motor Neuropathy

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Distal Hereditary Motor Neuropathy

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Anatomical Context for Distal Hereditary Motor Neuropathy

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32MalaCards
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MalaCards organs/tissues related to Distal Hereditary Motor Neuropathy:

32
Spinal cord

Animal Models for Distal Hereditary Motor Neuropathy or affiliated genes

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Publications for Distal Hereditary Motor Neuropathy

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50PubMed
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Articles related to Distal Hereditary Motor Neuropathy:

(show all 33)
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
Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study. (18325928)
2008
16
Distal hereditary motor neuropathy in Korean patients with a small heat shock protein 27 mutation. (18587268)
2008
17
Isolated vitamin E deficiency mimicking distal hereditary motor neuropathy in a 13-year-old boy. (18984846)
2008
18
Identification of de novo BSCL2 Ser90Leu mutation in a Korean family with Silver syndrome and distal hereditary motor neuropathy. (17486577)
2007
19
The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V. (16769947)
2006
20
BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy. (16427281)
2006
21
Small heat shock protein 27 mutation in a Japanese patient with distal hereditary motor neuropathy. (16155736)
2005
22
Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. (15122254)
2004
23
Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. (14981520)
2004
24
Mutation analysis of 12 candidate genes for distal hereditary motor neuropathy type II (distal HMN II) linked to 12q24.3. (12090300)
2002
25
Exclusion of 5 functional candidate genes for distal hereditary motor neuropathy type II (distal HMN II) linked to 12q24.3. (11851982)
2001
26
The genetics of type 1 Charcot-Marie-Tooth disease, the hereditary focal neuropathies and the hereditary distal motor neuropathies]. (10743001)
2000
27
A clone contig of 12q24.3 encompassing the distal hereditary motor neuropathy type II gene. (10777663)
2000
28
Distal hereditary motor neuropathy type II (distal HMN type II): phenotype and molecular genetics. (10586231)
1999
29
Construction of a PAC contig within the distal hereditary motor neuropathy type II candidate region at 12q24. (10586274)
1999
30
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
31
Mutation analysis of the human pancreatic phospholipase A2 gene in a family with distal hereditary motor neuropathy type II linked to 12q24. (9058425)
1997
32
Distal hereditary motor neuropathy type II (distal HMN II): mapping of a locus to chromosome 12q24. (8817349)
1996
33
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

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Expression for genes affiliated with Distal Hereditary Motor Neuropathy

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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

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53Reactome, 37NCBI BioSystems Database, 12EMD Millipore, 29KEGG, 51QIAGEN, 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
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10.0TUBA1B, TUBA1A, TUBA1C
6
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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
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9.9TUBB, TUBA1B, TUBA1A, TUBA1C
12
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9.9TUBB, TUBA1B, TUBA1A, TUBA1C
13
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9.9TUBB, TUBA1B, TUBA1A, TUBA1C
149.9TUBB, TUBA1B, TUBA1A, TUBA1C
159.9TUBB, TUBA1B, TUBA1A, TUBA1C
16
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9.9TUBB, TUBA1B, TUBA1A, TUBA1C
17
Cytoskeleton remodeling Reverse signaling by ephrin B
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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

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Sources:
44Novoseek, 11DrugBank, 49PharmGKB, 59Tocris Bioscience, 2BitterDB, 28IUPHAR
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Compounds related to Distal Hereditary Motor Neuropathy according to GeneCards/GeneDecks:

(show all 19)
idCompoundScoreTop Affiliating Genes
1albendazole44 1111.5TUBB, TUBA1A
2pironetin4410.5TUBA1B, TUBB
3podophyllotoxin4410.4TUBA1B, TUBB
41-oleoyl-2-acetyl-sn-glycerol4410.4HSPB1, 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
6melittin4410.3HSPB1, PLA2G1B
7vinblastine44 49 1112.3TUBA1A, TUBA1B, TUBB
8Epothilone D1110.2TUBA1C, TUBA1A, TUBA1B, TUBB
9vinorelbine ditartrate5910.2TUBB, TUBA1B, TUBA1A, TUBA1C
10vinblastine sulfate5910.2TUBB, TUBA1B, TUBA1A, TUBA1C
11epothilone b59 44 1112.2TUBA1C, TUBA1A, TUBA1B, TUBB
12docetaxel44 49 59 1113.2TUBA1C, TUBA1A, TUBA1B, TUBB
13colchicine59 44 2 28 1114.1HSPB1, TUBB, TUBA1B, TUBA1A, TUBA1C
14nocodazole44 1111.1CLIP1, TUBA1B, TUBB
15sodium dodecylsulfate4410.1TUBA1B, TUBB, HSPB1
16vincristine44 49 1112.0HSPB1, TUBB, TUBA1B
17estramustine44 1110.9TUBA1B, TUBB
18gtp44 2810.9CLIP1, ARF3, TUBA1B, TUBB
19atp44 2810.8PLA2G1B, TTPA, GARS, TUBA1B, TUBB, HSPB1

GO Terms for genes affiliated with Distal Hereditary Motor Neuropathy

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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

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  • Antibodies
  • Proteins
  • Lysates
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Sources for Distal Hereditary Motor Neuropathy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet