MCID: DST003
MIFTS: 31

Distal Hereditary Motor Neuropathy malady

Genetic diseases, Neuronal diseases, Muscle diseases, Rare diseases categories
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Summaries for Distal Hereditary Motor Neuropathy

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Wikipedia:65 Distal hereditary motor neuropathies (distal HMN, dHMN) are a genetically and clinically heterogeneous... more...

MalaCards based summary: Distal Hereditary Motor Neuropathy 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). Affiliated tissues include spinal cord.

Descriptions from OMIM:46 600794,608634,158590,607641,613376

Aliases & Classifications for Distal Hereditary Motor Neuropathy

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Distal Hereditary Motor Neuropathy, Aliases & Descriptions:

Name: Distal Hereditary Motor Neuropathy 8 10


Classifications:

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


External Ids:

Disease Ontology8 DOID:0050582

Related Diseases for Distal Hereditary Motor Neuropathy

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Diseases in the Neuropathy, Distal Hereditary Motor, Type Iia 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 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 30)
idRelated DiseaseScoreTop Affiliating Genes
1neuropathy31.4GARS, HSPB8
2neuropathy, distal hereditary motor, type va30.4BSCL2, GARS
3charcot-marie-tooth disease30.4GARS, HSPB1
4distal hereditary motor neuropathy type v10.9
5distal hereditary motor neuropathy, type ii10.8
6amyotrophic lateral sclerosis type 410.5
7neuropathy, distal hereditary motor, jerash type10.5
8distal hereditary motor neuropathy type 110.5
9neuronitis10.4
10cranial nerve palsy10.4
11neuropathy, distal hereditary motor, type iia10.4
12spinal muscular atrophy with respiratory distress 110.3
13pancreatitis10.3
14tooth disease10.3
15charcot-marie-tooth disease type 1b10.3
16spastic paraplegia 1710.3
17neuromyotonia and axonal neuropathy, autosomal recessive10.3
18charcot-marie-tooth disease, type 2a110.3
19charcot-marie-tooth disease, type 2a210.3
20neuronopathy, distal hereditary motor, type viia10.3
21spinal muscular atrophy, distal, autosomal recessive, 510.3
22spinal muscular atrophy, distal, x-linked 310.3
23charcot-marie-tooth neuropathy, x-linked dominant, 110.3
24distal spinal muscular atrophy type 310.3
25bscl2-related neurologic disorders/seipinopathy10.2BSCL2
26axonal neuropathy10.2HSPB1
27paraplegia10.0REEP1, BSCL2
28motor neuron disease9.8BSCL2, HSPB8, HSPB1
29charcot-marie-tooth neuropathy type 29.8GARS, HSPB1, HSPB8
30myopathy9.6HSPB8, 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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Clinical features from OMIM:

600794,608634,158590,607641,613376

Drugs & Therapeutics for Distal Hereditary Motor Neuropathy

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Drug clinical trials:

Search ClinicalTrials for Distal Hereditary Motor Neuropathy

Search NIH Clinical Center for Distal Hereditary Motor Neuropathy

Genetic Tests for Distal Hereditary Motor Neuropathy

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Anatomical Context for Distal Hereditary Motor Neuropathy

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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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Articles related to Distal Hereditary Motor Neuropathy:

(show all 32)
idTitleAuthorsYear
1
A family with distal hereditary motor neuropathy and a K141Q mutation of small heat shock protein HSPB1. (25088881)
2014
2
Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy. (24105373)
2013
3
Two novel mutations of GARS in Korean families with distal hereditary motor neuropathy type V. (23279345)
2012
4
Alanyl-tRNA synthetase mutation in a family with dominant distal hereditary motor neuropathy. (22573628)
2012
5
Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V. (22703882)
2012
6
Mutant HSPB8 causes protein aggregates and a reduced mitochondrial membrane potential in dermal fibroblasts from distal hereditary motor neuropathy patients. (22595202)
2012
7
A rare recessive distal hereditary motor neuropathy with HSJ1 chaperone mutation. (22522442)
2012
8
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
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
A clone contig of 12q24.3 encompassing the distal hereditary motor neuropathy type II gene. (10777663)
2000
27
Distal hereditary motor neuropathy type II (distal HMN type II): phenotype and molecular genetics. (10586231)
1999
28
Construction of a PAC contig within the distal hereditary motor neuropathy type II candidate region at 12q24. (10586274)
1999
29
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
30
Mutation analysis of the human pancreatic phospholipase A2 gene in a family with distal hereditary motor neuropathy type II linked to 12q24. (9058425)
1997
31
Distal hereditary motor neuropathy type II (distal HMN II): mapping of a locus to chromosome 12q24. (8817349)
1996
32
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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Expression patterns in normal tissues for genes affiliated with Distal Hereditary Motor Neuropathy

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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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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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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet