DHMN
MCID: DST003
MIFTS: 33

Distal Hereditary Motor Neuropathy (DHMN) malady

Genetic diseases, Neuronal diseases, Rare diseases, Muscle diseases categories

Summaries for Distal Hereditary Motor Neuropathy

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66Wikipedia, 48OMIM, 34MalaCards
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Wikipedia:66 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 charcot-marie-tooth disease. An important gene associated with Distal Hereditary Motor Neuropathy is HSPB3 (heat shock 27kDa protein 3). Affiliated tissues include spinal cord.

Description from OMIM:48 158590,607641,608634,613376,600794

Aliases & Classifications for Distal Hereditary Motor Neuropathy

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Sources:
9Disease Ontology, 11DISEASES, 50Orphanet, 63UMLS, 48OMIM, 60SNOMED-CT via Orphanet, 27ICD10 via Orphanet
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Classifications:

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


Aliases & Descriptions:

distal hereditary motor neuropathy 9 11 50
distal spinal muscular atrophy 50 63
dhmn 50
dsma 50


External Ids:

Disease Ontology9 DOID:0050582
SNOMED-CT via Orphanet60 230247001
ICD10 via Orphanet27 G12.2

Related Diseases for Distal Hereditary Motor Neuropathy

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18GeneCards, 19GeneDecks
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Diseases in the Neuropathy, Distal Hereditary Motor, Type Va family:

distal hereditary motor neuropathy Distal Hereditary Motor Neuropathy Type V
Atp7a-Related Distal Motor Neuropathy 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 42)
idRelated DiseaseScoreTop Affiliating Genes
1neuropathy31.5HSPB8, GARS
2charcot-marie-tooth disease30.4GARS, HSPB1
3neuropathy, distal hereditary motor, type va30.3GARS, BSCL2
4distal hereditary motor neuropathy type v10.9
5muscular atrophy10.8
6spinal muscular atrophy10.8
7distal hereditary motor neuropathy, type ii10.8
8neuropathy, distal hereditary motor, jerash type10.5
9distal hereditary motor neuropathy type 110.5
10charcot-marie-tooth disease type 2d10.4
11distal spinal muscular atrophy 410.4
12spinal muscular atrophy, distal, autosomal recessive, 410.4
13neuronitis10.4
14cranial nerve palsy10.4
15ataxia telangiectasia10.3
16werdnig-hoffmann disease10.3
17distal congenital nonprogressive spinal muscular atrophy10.3
18ataxia10.3
19pancreatitis10.3
20tooth disease10.3
21charcot-marie-tooth disease type 1b10.3
22spastic paraplegia 1710.3
23spinal muscular atrophy with respiratory distress 110.3
24neuromyotonia and axonal neuropathy, autosomal recessive10.3
25charcot-marie-tooth disease, type 2a110.3
26charcot-marie-tooth disease, type 2a210.3
27neuronopathy, distal hereditary motor, type viia10.3
28spinal muscular atrophy, distal, autosomal recessive, 510.3
29neuronopathy, distal hereditary motor, type iid10.3
30amyotrophic lateral sclerosis 4, juvenile10.3
31spinal muscular atrophy, distal, x-linked 310.3
32charcot-marie-tooth neuropathy, x-linked dominant, 110.3
33distal spinal muscular atrophy type 310.3
34distal spinal muscular atrophy, type v10.1
35axonal neuropathy10.1HSPB1
36bscl2-related neurologic disorders/seipinopathy10.1BSCL2
37paraplegia10.0REEP1, BSCL2
38amyotrophic lateral sclerosis, type 410.0
39neuronopathy, distal hereditary motor, type vb10.0
40motor neuron disease10.0HSPB1, HSPB8, BSCL2
41charcot-marie-tooth neuropathy type 29.9GARS, HSPB1, HSPB8
42myopathy9.9HSPB8, HSPB1, GARS

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



Diseases related to distal hereditary motor neuropathy

Symptoms for Distal Hereditary Motor Neuropathy

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48OMIM
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Clinical features from OMIM:

158590,607641,608634,613376,600794

Drugs & Therapeutics for Distal Hereditary Motor Neuropathy

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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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34MalaCards
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MalaCards organs/tissues related to Distal Hereditary Motor Neuropathy:

34
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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53PubMed
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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
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
9
Missense mutations in the copper transporter gene ATP7A cause X- linked distal hereditary motor neuropathy. (20170900)
2010
10
Heat shock protein 27 R127W mutation: evidence of a continuum between axonal Charcot-Marie-Tooth and distal hereditary motor neuropathy. (20660910)
2010
11
N88S mutation in the BSCL2 gene in a Serbian family with distal hereditary motor neuropathy type V or Silver syndrome. (20598714)
2010
12
Cranial nerves palsy as an initial feature of an early onset distal hereditary motor neuropathy--a new distal hereditary motor neuropathy phenotype. (19409784)
2009
13
X-linked distal hereditary motor neuropathy maps to the DSMAX locus on chromosome Xq13.1-q21. (19153371)
2009
14
Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study. (18325928)
2008
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

Variations for Distal Hereditary Motor Neuropathy

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Expression for genes affiliated with Distal Hereditary Motor Neuropathy

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2BioGPS, 16Gene 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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Compounds for genes affiliated with Distal Hereditary Motor Neuropathy

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GO Terms for genes affiliated with Distal Hereditary Motor Neuropathy

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17Gene Ontology
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Cellular components related to Distal Hereditary Motor Neuropathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmGO:0057377.7GARS, REEP1, HSPB1, HSPB8, HSPB3

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

idNameGO IDScoreTop Affiliating Genes
1response to unfolded proteinGO:0069869.6HSPB1, HSPB3
2cell deathGO:0082196.8GARS, REEP1, HSPB1, HSPB8, HSPB3, BSCL2

Products for genes affiliated with Distal Hereditary Motor Neuropathy

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Sources for Distal Hereditary Motor Neuropathy

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet