MCID: DST003
MIFTS: 28

Distal Hereditary Motor Neuropathy malady

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

Aliases & Classifications for Distal Hereditary Motor Neuropathy

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Aliases & Descriptions for Distal Hereditary Motor Neuropathy:

Name: Distal Hereditary Motor Neuropathy 10 68 45 12
Spinal Muscular Atrophy, Distal Type V 68 22
Dhmn-V 68 47
Spinal Muscular Atrophy, Distal, with Upper Limb Predominance 68
Neuronopathy, Distal Hereditary Motor, Type V 68
 
Hereditary Motor Neuronopathy, Type V 68
Dsma-V 22
Hmn V 68
Dhmn 68


Classifications:



External Ids:

Disease Ontology10 DOID:0050582

Summaries for Distal Hereditary Motor Neuropathy

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MalaCards based summary: Distal Hereditary Motor Neuropathy, also known as spinal muscular atrophy, distal type v, is related to charcot-marie-tooth disease, type 2d and charcot-marie-tooth disease, type 1b. An important gene associated with Distal Hereditary Motor Neuropathy is GARS (Glycyl-TRNA Synthetase).

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
Atp7a-Related Distal Motor Neuropathy Distal Hereditary Motor Neuropathy Type V
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 49)
idRelated DiseaseScoreTop Affiliating Genes
1charcot-marie-tooth disease, type 2d30.4BSCL2, GARS
2charcot-marie-tooth disease, type 1b30.0DNAJB2, HSPB1, HSPB8
3neuropathy11.0
4distal hereditary motor neuropathy type v10.9
5distal hereditary motor neuropathy, type ii10.8
6neuronopathy, distal hereditary motor, type viia10.5
7amyotrophic lateral sclerosis type 410.5
8distal hereditary motor neuropathy type 710.5
9young adult-onset distal hereditary motor neuropathy10.5
10neuronopathy, distal hereditary motor, type iic10.4
11neuromyotonia and axonal neuropathy, autosomal recessive10.4
12neuropathy, distal hereditary motor, type viib10.4
13neuropathy, distal hereditary motor, type va10.4
14neuronopathy, distal hereditary motor, type vi10.4
15neuronitis10.4
16cranial nerve palsy10.4
17charcot-marie-tooth disease, type 2a110.3
18charcot-marie-tooth disease, type 2a210.3
19neuronopathy, distal hereditary motor, type vb10.3
20neuronopathy, distal hereditary motor, type iid10.3
21neuronopathy, distal hereditary motor, type i10.3
22spinal muscular atrophy, distal, autosomal recessive, 210.3
23spinal muscular atrophy, distal, x-linked 310.3
24charcot-marie-tooth neuropathy, x-linked dominant, 110.3
25neuropathy, distal hereditary motor, type iib10.3
26neuropathy, distal hereditary motor, type iia10.3
27charcot-marie-tooth disease10.3
28pancreatitis10.3
29tooth disease10.3
30spastic paraplegia 1710.3
31distal spinal muscular atrophy 410.3
32distal spinal muscular atrophy type 310.3
33spinal muscular atrophy10.2
34muscular atrophy10.2
35gars-associated axonal neuropathy10.2
36berardinelli-seip congenital lipodystrophy10.1BSCL2, GARS
37gata1-related x-linked cytopenia10.1BSCL2, GARS
38hand-foot-uterus syndrome10.0BSCL2, GARS
39kuhnt-junius degeneration10.0GARS, HINT1
40dyserythropoietic anemia and thrombocytopenia10.0HSPB1, HSPB3, HSPB8
41dkc1-related dyskeratosis congenita9.9BSCL2, GARS, REEP1
42adrenocorticotropic hormone deficiency9.8DNAJB2, HSPB1, HSPB8
43charcot-marie-tooth neuropathy type 19.7DNAJB2, HSPB1, HSPB8
44vaginal tubular adenoma9.7ATP7A, GARS, HSPB8
45tooth erosion9.7GARS, HSPB1, HSPB8
46charcot-marie-tooth disease, type 2e9.6BSCL2, DNAJB2, GARS, HSPB8
47childhood type dermatomyositis9.5DNAJB2, GARS, HSPB1, HSPB8
48mouth disease9.0ATP7A, BSCL2, DNAJB2, GARS, HSPB1, HSPB8
49congenital generalized lipodystrophy8.7ATP7A, BSCL2, DNAJB2, GARS, HINT1, HSPB1

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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Interventional clinical trials:

idNameStatusNCT IDPhase
1Genetics of Pediatric-Onset Motor Neuron and Neuromuscular DiseasesRecruitingNCT02532244

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 V22 GARS

Anatomical Context for Distal Hereditary Motor Neuropathy

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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 33)
idTitleAuthorsYear
1
A SIGMAR1 splice-site mutation causes distal hereditary motor neuropathy. (26078401)
2015
2
A family with distal hereditary motor neuropathy and a K141Q mutation of small heat shock protein HSPB1. (25088881)
2014
3
Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy. (24105373)
2013
4
Two novel mutations of GARS in Korean families with distal hereditary motor neuropathy type V. (23279345)
2012
5
Alanyl-tRNA synthetase mutation in a family with dominant distal hereditary motor neuropathy. (22573628)
2012
6
Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V. (22703882)
2012
7
Mutant HSPB8 causes protein aggregates and a reduced mitochondrial membrane potential in dermal fibroblasts from distal hereditary motor neuropathy patients. (22595202)
2012
8
A rare recessive distal hereditary motor neuropathy with HSJ1 chaperone mutation. (22522442)
2012
9
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
10
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
11
Missense mutations in the copper transporter gene ATP7A cause X- linked distal hereditary motor neuropathy. (20170900)
2010
12
Heat shock protein 27 R127W mutation: evidence of a continuum between axonal Charcot-Marie-Tooth and distal hereditary motor neuropathy. (20660910)
2010
13
N88S mutation in the BSCL2 gene in a Serbian family with distal hereditary motor neuropathy type V or Silver syndrome. (20598714)
2010
14
Cranial nerves palsy as an initial feature of an early onset distal hereditary motor neuropathy--a new distal hereditary motor neuropathy phenotype. (19409784)
2009
15
X-linked distal hereditary motor neuropathy maps to the DSMAX locus on chromosome Xq13.1-q21. (19153371)
2009
16
Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study. (18325928)
2008
17
Distal hereditary motor neuropathy in Korean patients with a small heat shock protein 27 mutation. (18587268)
2008
18
Isolated vitamin E deficiency mimicking distal hereditary motor neuropathy in a 13-year-old boy. (18984846)
2008
19
Identification of de novo BSCL2 Ser90Leu mutation in a Korean family with Silver syndrome and distal hereditary motor neuropathy. (17486577)
2007
20
The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V. (16769947)
2006
21
BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy. (16427281)
2006
22
Small heat shock protein 27 mutation in a Japanese patient with distal hereditary motor neuropathy. (16155736)
2005
23
Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. (15122254)
2004
24
Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. (14981520)
2004
25
Mutation analysis of 12 candidate genes for distal hereditary motor neuropathy type II (distal HMN II) linked to 12q24.3. (12090300)
2002
26
Exclusion of 5 functional candidate genes for distal hereditary motor neuropathy type II (distal HMN II) linked to 12q24.3. (11851982)
2001
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

Variations for Distal Hereditary Motor Neuropathy

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Clinvar genetic disease variations for Distal Hereditary Motor Neuropathy:

5
id Gene Variation Type Significance SNP ID Assembly Location
1NM_032667.6(BSCL2): c.263A> G (p.Asn88Ser)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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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
1proteasome complexGO:00005029.8DNAJB2, HSPB1
2secretory granuleGO:00301419.3ATP7A, GARS

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

idNameGO IDScoreTop Affiliating Genes
1response to unfolded proteinGO:00069869.0DNAJB2, HSPB1, HSPB3

Molecular functions related to Distal Hereditary Motor Neuropathy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein kinase C bindingGO:00050809.9HINT1, HSPB1
2nucleotide bindingGO:00001669.0ATP7A, GARS, HINT1

Sources for Distal Hereditary Motor Neuropathy

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet