DHMN7
MCID: DST105
MIFTS: 25

Distal Hereditary Motor Neuronopathy Type 7 (DHMN7)

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Distal Hereditary Motor Neuronopathy Type 7

MalaCards integrated aliases for Distal Hereditary Motor Neuronopathy Type 7:

Name: Distal Hereditary Motor Neuronopathy Type 7 12 15
Distal Spinal Muscular Atrophy with Vocal Cord Paralysis 12
Dhmnvpy 12
Dhmn7 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0111199

Summaries for Distal Hereditary Motor Neuronopathy Type 7

Disease Ontology : 12 An autosomal dominant distal hereditary motor neuronopathy characterized by slowly progressive distal atrophy and weakness affecting first the upper limbs and later the lower limbs and vocal cord paresis.

MalaCards based summary : Distal Hereditary Motor Neuronopathy Type 7, also known as distal spinal muscular atrophy with vocal cord paralysis, is related to distal hereditary motor neuropathy type 7 and muscular atrophy. An important gene associated with Distal Hereditary Motor Neuronopathy Type 7 is DCTN1 (Dynactin Subunit 1), and among its related pathways/superpathways are Vesicle-mediated transport and Organelle biogenesis and maintenance. Related phenotypes are behavior/neurological and mortality/aging

Related Diseases for Distal Hereditary Motor Neuronopathy Type 7

Diseases in the Autosomal Dominant Distal Hereditary Motor Neuronopathy family:

Neuronopathy, Distal Hereditary Motor, Type Viia Neuronopathy, Distal Hereditary Motor, Type Iia
Neuronopathy, Distal Hereditary Motor, Type I Neuronopathy, Distal Hereditary Motor, Type Viii
Neuronopathy, Distal Hereditary Motor, Type Va Neuronopathy, Distal Hereditary Motor, Type Viib
Neuronopathy, Distal Hereditary Motor, Type Iib Neuronopathy, Distal Hereditary Motor, Type Iic
Neuronopathy, Distal Hereditary Motor, Type Vb Neuronopathy, Distal Hereditary Motor, Type Iid
Neuronopathy, Distal Hereditary Motor, Type Ix Autosomal Recessive Distal Hereditary Motor Neuronopathy
Distal Hereditary Motor Neuronopathy Type 7 Distal Hereditary Motor Neuronopathy Type 2

Diseases related to Distal Hereditary Motor Neuronopathy Type 7 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 35)
# Related Disease Score Top Affiliating Genes
1 distal hereditary motor neuropathy type 7 32.4 SLC5A7 DCTN1
2 muscular atrophy 30.2 TARDBP SLC5A7 DYNC1H1 DCTN1
3 neuronopathy, distal hereditary motor, type viib 28.5 TRNAU1AP TARDBP SNPH PAFAH1B1 NDEL1 NAT9
4 neuronopathy, distal hereditary motor, type viia 12.3
5 spinal muscular atrophy 10.5
6 charcot-marie-tooth hereditary neuropathy 10.5
7 oculopharyngeal muscular dystrophy 10.3
8 distal myopathy with vocal cord weakness 10.3
9 genetic motor neuron disease 10.2 DYNC1H1 DCTN1
10 spastic paraplegia 57, autosomal recessive 10.2 REEP1 ALS2
11 autosomal recessive distal hereditary motor neuronopathy 10.2 REEP1 ALS2
12 neuronal migration disorders 10.1 PAFAH1B1 DYNC1H1
13 spinal muscular atrophy with lower extremity predominance 10.1 PAFAH1B1 DYNC1H1
14 amyotrophic lateral sclerosis 19 10.1 TARDBP ALS2
15 amyotrophic lateral sclerosis 12 10.0 TARDBP ALS2
16 amyotrophic lateral sclerosis 11 10.0 TARDBP ALS2
17 spastic paraplegia 4, autosomal dominant 10.0 REEP1 ALS2
18 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia 10.0 TARDBP ALS2
19 amyotrophic lateral sclerosis type 6 10.0 TARDBP ALS2
20 amyotrophic lateral sclerosis 8 10.0 TARDBP ALS2
21 motor peripheral neuropathy 10.0 REEP1 DYNC1H1 DCTN1
22 amyotrophic lateral sclerosis 4, juvenile 9.9 TARDBP ALS2
23 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 9.9 TARDBP DCTN1 ALS2
24 lateral sclerosis 9.9 TARDBP DCTN1 ALS2
25 schizophrenia 1 9.8 PAFAH1B1 NDEL1
26 spinal and bulbar muscular atrophy, x-linked 1 9.8 TARDBP DCTN1
27 band heterotopia 9.8 PAFAH1B1 NDEL1 DYNC1H1
28 perry syndrome 9.8 TARDBP MAPRE3 DCTN2 DCTN1
29 periventricular nodular heterotopia 9.7 PAFAH1B1 NDEL1 DYNC1H1
30 motor neuron disease 9.6 TARDBP DYNC1H1 DCTN1 ALS2
31 lissencephaly 9.6 PAFAH1B1 NDEL1 DYNC1H1 DCTN1
32 neuromuscular disease 9.5 DYNC1H1 DCTN1 ALS2
33 amyotrophic lateral sclerosis 1 9.4 TARDBP SLC5A7 DYNC1H1 DCTN1 ALS2
34 autosomal dominant distal hereditary motor neuronopathy 9.3 SLC5A7 REEP1 DYNC1H1 DCTN2 DCTN1 ALS2
35 charcot-marie-tooth disease 8.6 TARDBP SNPH SLC5A7 REEP1 DYNC1H1 DCTN2

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



Diseases related to Distal Hereditary Motor Neuronopathy Type 7

Symptoms & Phenotypes for Distal Hereditary Motor Neuronopathy Type 7

MGI Mouse Phenotypes related to Distal Hereditary Motor Neuronopathy Type 7:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.81 ALS2 DCTN1 DYNC1H1 PAFAH1B1 REEP1 SLC5A7
2 mortality/aging MP:0010768 9.65 ALS2 DCTN1 DCTN2 DYNC1H1 NDEL1 PAFAH1B1
3 nervous system MP:0003631 9.32 ALS2 DCTN1 DYNC1H1 NDEL1 PAFAH1B1 REEP1

Drugs & Therapeutics for Distal Hereditary Motor Neuronopathy Type 7

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

Genetic Tests for Distal Hereditary Motor Neuronopathy Type 7

Anatomical Context for Distal Hereditary Motor Neuronopathy Type 7

Publications for Distal Hereditary Motor Neuronopathy Type 7

Articles related to Distal Hereditary Motor Neuronopathy Type 7:

# Title Authors PMID Year
1
Distal spinal muscular atrophy with vocal cord paralysis (dSMA-VII) is not linked to the MPD2 locus on chromosome 5q31. 61
10922394 2000
2
Distal spinal muscular atrophy with vocal cord paralysis. 61
1552559 1992
3
Hereditary distal spinal muscular atrophy with vocal cord paralysis. 61
7420092 1980

Variations for Distal Hereditary Motor Neuronopathy Type 7

Expression for Distal Hereditary Motor Neuronopathy Type 7

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

Pathways for Distal Hereditary Motor Neuronopathy Type 7

GO Terms for Distal Hereditary Motor Neuronopathy Type 7

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.25 TRNAU1AP TARDBP SNPH REEP1 PAFAH1B1 NDEL1
2 cell GO:0005623 10 PAFAH1B1 NDEL1 DYNC1H1 DCTN2 DCTN1
3 cytoskeleton GO:0005856 10 PAFAH1B1 NDEL1 MAPRE3 DYNC1H1 DCTN2 DCTN1
4 neuron projection GO:0043005 9.85 SNPH PAFAH1B1 DCTN1 ALS2
5 neuronal cell body GO:0043025 9.85 SNPH SLC5A7 PAFAH1B1 DCTN1 ALS2
6 axon GO:0030424 9.83 SLC5A7 PAFAH1B1 NDEL1 DCTN1 ALS2
7 microtubule organizing center GO:0005815 9.8 PAFAH1B1 NDEL1 MAPRE3 DCTN2 DCTN1
8 spindle GO:0005819 9.77 PAFAH1B1 NDEL1 DCTN1
9 nuclear envelope GO:0005635 9.77 PAFAH1B1 NDEL1 DCTN1
10 vesicle GO:0031982 9.76 PAFAH1B1 DCTN2 ALS2
11 microtubule cytoskeleton GO:0015630 9.75 PAFAH1B1 MAPRE3 DCTN1
12 cell cortex GO:0005938 9.74 PAFAH1B1 DYNC1H1 DCTN1
13 growth cone GO:0030426 9.71 PAFAH1B1 DCTN2 ALS2
14 axon cytoplasm GO:1904115 9.67 PAFAH1B1 NDEL1 DYNC1H1
15 centrosome GO:0005813 9.63 PAFAH1B1 NDEL1 DYNC1H1 DCTN2 DCTN1 ALS2
16 microtubule plus-end GO:0035371 9.56 MAPRE3 DCTN1
17 kinetochore GO:0000776 9.56 PAFAH1B1 NDEL1 DCTN2 DCTN1
18 dynein complex GO:0030286 9.54 DYNC1H1 DCTN2 DCTN1
19 microtubule associated complex GO:0005875 9.5 PAFAH1B1 NDEL1 DCTN1
20 central region of growth cone GO:0090724 9.48 PAFAH1B1 NDEL1
21 cytoplasmic microtubule GO:0005881 9.26 SNPH REEP1 PAFAH1B1 DYNC1H1
22 microtubule GO:0005874 9.1 PAFAH1B1 NDEL1 MAPRE3 DYNC1H1 DCTN2 DCTN1

Biological processes related to Distal Hereditary Motor Neuronopathy Type 7 according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 cell cycle GO:0007049 9.87 PAFAH1B1 MAPRE3 DYNC1H1 DCTN1
2 cell division GO:0051301 9.81 PAFAH1B1 MAPRE3 DYNC1H1 DCTN1
3 ER to Golgi vesicle-mediated transport GO:0006888 9.7 DYNC1H1 DCTN2 DCTN1
4 G2/M transition of mitotic cell cycle GO:0000086 9.67 PAFAH1B1 DYNC1H1 DCTN2 DCTN1
5 antigen processing and presentation of exogenous peptide antigen via MHC class II GO:0019886 9.63 DYNC1H1 DCTN2 DCTN1
6 ciliary basal body-plasma membrane docking GO:0097711 9.62 PAFAH1B1 DYNC1H1 DCTN2 DCTN1
7 mitotic spindle organization GO:0007052 9.58 DYNC1H1 DCTN2
8 establishment of mitotic spindle orientation GO:0000132 9.58 PAFAH1B1 NDEL1 DCTN1
9 microtubule-based process GO:0007017 9.56 PAFAH1B1 DCTN2
10 positive regulation of axon extension GO:0045773 9.55 PAFAH1B1 NDEL1
11 neuromuscular junction development GO:0007528 9.54 DCTN1 ALS2
12 regulation of mitotic spindle organization GO:0060236 9.49 DYNC1H1 DCTN1
13 vesicle transport along microtubule GO:0047496 9.48 PAFAH1B1 NDEL1
14 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.46 PAFAH1B1 DYNC1H1 DCTN2 DCTN1
15 regulation of microtubule motor activity GO:2000574 9.43 PAFAH1B1 NDEL1
16 nuclear migration GO:0007097 9.43 PAFAH1B1 DYNC1H1 DCTN1
17 retrograde axonal transport GO:0008090 9.13 PAFAH1B1 NDEL1 DYNC1H1
18 nuclear envelope disassembly GO:0051081 8.8 PAFAH1B1 NDEL1 DCTN1

Molecular functions related to Distal Hereditary Motor Neuronopathy Type 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.73 TARDBP PAFAH1B1 NDEL1 MAPRE3 DCTN2 ALS2
2 motor activity GO:0003774 9.33 DYNC1H1 DCTN2 DCTN1
3 dynein intermediate chain binding GO:0045505 9.32 PAFAH1B1 DYNC1H1
4 microtubule plus-end binding GO:0051010 9.13 PAFAH1B1 MAPRE3 DCTN1
5 microtubule binding GO:0008017 9.1 SNPH REEP1 PAFAH1B1 NDEL1 MAPRE3 DCTN1

Sources for Distal Hereditary Motor Neuronopathy 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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