DHMN7
MCID: DST092
MIFTS: 15

Distal Hereditary Motor Neuropathy Type 7 (DHMN7)

Categories: Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Distal Hereditary Motor Neuropathy Type 7

MalaCards integrated aliases for Distal Hereditary Motor Neuropathy Type 7:

Name: Distal Hereditary Motor Neuropathy Type 7 58
Distal Spinal Muscular Atrophy with Vocal Cord Paralysis 58
Dhmn7 58

Characteristics:

Orphanet epidemiological data:

58
distal hereditary motor neuropathy type 7
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood;

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 33 G12.2
Orphanet 58 ORPHA139589

Summaries for Distal Hereditary Motor Neuropathy Type 7

MalaCards based summary : Distal Hereditary Motor Neuropathy Type 7, also known as distal spinal muscular atrophy with vocal cord paralysis, is related to distal hereditary motor neuronopathy type 7 and muscular atrophy. An important gene associated with Distal Hereditary Motor Neuropathy Type 7 is DCTN1 (Dynactin Subunit 1).

Related Diseases for Distal Hereditary Motor Neuropathy Type 7

Graphical network of the top 20 diseases related to Distal Hereditary Motor Neuropathy Type 7:



Diseases related to Distal Hereditary Motor Neuropathy Type 7

Symptoms & Phenotypes for Distal Hereditary Motor Neuropathy Type 7

Drugs & Therapeutics for Distal Hereditary Motor Neuropathy Type 7

Search Clinical Trials , NIH Clinical Center for Distal Hereditary Motor Neuropathy Type 7

Genetic Tests for Distal Hereditary Motor Neuropathy Type 7

Anatomical Context for Distal Hereditary Motor Neuropathy Type 7

Publications for Distal Hereditary Motor Neuropathy Type 7

Articles related to Distal Hereditary Motor Neuropathy Type 7:

# Title Authors PMID Year
1
Hereditary distal spinal muscular atrophy with vocal cord paralysis. 6 61
7420092 1980
2
Defective presynaptic choline transport underlies hereditary motor neuropathy. 6
23141292 2012
3
Neurodegeneration mutations in dynactin impair dynein-dependent nuclear migration. 6
19279216 2009
4
A motor neuron disease-associated mutation in p150Glued perturbs dynactin function and induces protein aggregation. 6
16505168 2006
5
Mutant dynactin in motor neuron disease. 6
12627231 2003
6
Disruption of dynein/dynactin inhibits axonal transport in motor neurons causing late-onset progressive degeneration. 6
12062019 2002
7
Localization of the gene for distal hereditary motor neuronopathy VII (dHMN-VII) to chromosome 2q14. 6
11294660 2001
8
Distal hereditary motor neuropathy with vocal cord paresis: from difficulty in choral singing to a molecular genetic diagnosis. 61
26786006 2016
9
Distal spinal muscular atrophy with vocal cord paralysis (dSMA-VII) is not linked to the MPD2 locus on chromosome 5q31. 61
10922394 2000
10
Distal spinal muscular atrophy with vocal cord paralysis. 61
1552559 1992

Variations for Distal Hereditary Motor Neuropathy Type 7

Expression for Distal Hereditary Motor Neuropathy Type 7

Search GEO for disease gene expression data for Distal Hereditary Motor Neuropathy Type 7.

Pathways for Distal Hereditary Motor Neuropathy Type 7

GO Terms for Distal Hereditary Motor Neuropathy Type 7

Cellular components related to Distal Hereditary Motor Neuropathy Type 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuronal cell body GO:0043025 8.96 SLC5A7 DCTN1
2 axon GO:0030424 8.62 SLC5A7 DCTN1

Sources for Distal Hereditary Motor Neuropathy Type 7

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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