MCID: DST003
MIFTS: 28

Distal Hereditary Motor Neuropathy malady

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

Aliases & Classifications for Distal Hereditary Motor Neuropathy

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Distal Hereditary Motor Neuropathy, Aliases & Descriptions:

Name: Distal Hereditary Motor Neuropathy 9 63 11
Spinal Muscular Atrophy, Distal Type V 63 20
Dhmn-V 63 43
Spinal Muscular Atrophy, Distal, with Upper Limb Predominance 63
 
Neuronopathy, Distal Hereditary Motor, Type V 63
Hereditary Motor Neuronopathy, Type V 63
Hmn V 63
Dhmn 63


Classifications:

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


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Disease Ontology9 DOID:0050582

Summaries for Distal Hereditary Motor Neuropathy

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Wikipedia:63 Distal hereditary motor neuropathies (distal HMN, dHMN) are a genetically and clinically heterogeneous... more...

MalaCards based summary: Distal Hereditary Motor Neuropathy, also known as spinal muscular atrophy, distal type v, is related to neuropathy and neuropathy, distal hereditary motor, type va. An important gene associated with Distal Hereditary Motor Neuropathy is GARS (glycyl-tRNA synthetase). Affiliated tissues include spinal cord.

Related Diseases for Distal Hereditary Motor Neuropathy

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Diseases in the Distal Hereditary Motor Neuropathy family:

Neuropathy, Distal Hereditary Motor, Type Viib Neuropathy, Distal Hereditary Motor, Type Va
Neuropathy, Distal Hereditary Motor, Type Iib Neuropathy, Distal Hereditary Motor, Type Iia
Distal Hereditary Motor Neuropathy Type V Atp7a-Related Distal Motor Neuropathy
Distal Hereditary Motor Neuropathy, Type Ii Distal Hereditary Motor Neuropathy Type 7

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

(show all 31)
idRelated DiseaseScoreTop Affiliating Genes
1neuropathy31.3HSPB8, GARS
2neuropathy, distal hereditary motor, type va30.5GARS, BSCL2
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
7distal hereditary motor neuropathy type 710.5
8young adult-onset distal hereditary motor neuropathy10.5
9neuropathy, distal hereditary motor, jerash type10.4
10neuronitis10.4
11cranial nerve palsy10.4
12spastic paraplegia 1710.4
13neuromyotonia and axonal neuropathy, autosomal recessive10.3
14neuronopathy, distal hereditary motor, type i10.3
15charcot-marie-tooth disease, type 2a110.3
16charcot-marie-tooth disease, type 2a210.3
17charcot-marie-tooth disease, type 1b10.3
18neuronopathy, distal hereditary motor, type vi10.3
19charcot-marie-tooth neuropathy, x-linked dominant, 110.3
20pancreatitis10.3
21tooth disease10.3
22distal spinal muscular atrophy type 310.3
23x-linked distal spinal muscular atrophy10.3
24bscl2-related neurologic disorders/seipinopathy10.2BSCL2
25axonal neuropathy10.2HSPB1
26neuronopathy, distal hereditary motor, type vb10.0
27neuronopathy, distal hereditary motor, type iid10.0
28paraplegia10.0REEP1, BSCL2
29motor neuron disease9.8HSPB1, HSPB8, BSCL2
30charcot-marie-tooth disease, type 2e9.8GARS, HSPB1, HSPB8
31myopathy9.5HSPB8, 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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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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Genetic tests related to Distal Hereditary Motor Neuropathy:

id Genetic test Affiliating Genes
1 Distal Spinal Muscular Atrophy V20 GARS

Anatomical Context for Distal Hereditary Motor Neuropathy

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MalaCards organs/tissues related to Distal Hereditary Motor Neuropathy:

31
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 31)
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

Variations for Distal Hereditary Motor Neuropathy

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Clinvar genetic disease variations for Distal Hereditary Motor Neuropathy:

6
id Gene Variation Type Significance SNP ID Assembly Location
1NM_001122955.3(BSCL2): c.455A> G (p.Asn152Ser)single nucleotide variantPathogenicrs137852972GRCh37Chr 11, 62469971: 62469971
2GARSNM_002047.2(GARS): c.548T> C (p.Leu183Pro)single nucleotide variantPathogenicrs137852644GRCh37Chr 7, 30640795: 30640795
3GARSNM_002047.2(GARS): c.374A> G (p.Glu125Gly)single nucleotide variantPathogenicrs137852645GRCh37Chr 7, 30639612: 30639612
4GARSNM_002047.2(GARS): c.1738G> C (p.Gly580Arg)single nucleotide variantPathogenicrs137852646GRCh37Chr 7, 30668214: 30668214
5GARSNM_002047.2(GARS): c.1660G> A (p.Asp554Asn)single nucleotide variantPathogenicrs137852647GRCh37Chr 7, 30665896: 30665896

Expression for genes affiliated with Distal Hereditary Motor Neuropathy

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

idNameGO IDScoreTop Affiliating Genes
1cytoplasmGO:00057377.9GARS, REEP1, HSPB1, HSPB8, HSPB3

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

idNameGO IDScoreTop Affiliating Genes
1response to unfolded proteinGO:00069869.5HSPB1, HSPB3
2cell deathGO:00082196.8GARS, 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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet