DHMN7
MCID: DST092
MIFTS: 22

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:

(show all 14)
# Title Authors PMID Year
1
Hereditary distal spinal muscular atrophy with vocal cord paralysis. 6 61
7420092 1980
2
Distal hereditary motor neuropathy type 7B with Dynactin 1 mutation. 6
27573046 2016
3
The dynactin p150 subunit: cell biology studies of sequence changes found in ALS/MND and Parkinsonian syndromes. 6
23143281 2013
4
Defective presynaptic choline transport underlies hereditary motor neuropathy. 6
23141292 2012
5
Neurodegeneration mutations in dynactin impair dynein-dependent nuclear migration. 6
19279216 2009
6
Lysosomal proliferation and distal degeneration in motor neurons expressing the G59S mutation in the p150Glued subunit of dynactin. 6
18364389 2008
7
The G59S mutation in p150(glued) causes dysfunction of dynactin in mice. 6
18094236 2007
8
A motor neuron disease-associated mutation in p150Glued perturbs dynactin function and induces protein aggregation. 6
16505168 2006
9
Mutant dynactin in motor neuron disease. 6
12627231 2003
10
Disruption of dynein/dynactin inhibits axonal transport in motor neurons causing late-onset progressive degeneration. 6
12062019 2002
11
Localization of the gene for distal hereditary motor neuronopathy VII (dHMN-VII) to chromosome 2q14. 6
11294660 2001
12
Distal hereditary motor neuropathy with vocal cord paresis: from difficulty in choral singing to a molecular genetic diagnosis. 61
26786006 2016
13
Distal spinal muscular atrophy with vocal cord paralysis (dSMA-VII) is not linked to the MPD2 locus on chromosome 5q31. 61
10922394 2000
14
Distal spinal muscular atrophy with vocal cord paralysis. 61
1552559 1992

Variations for Distal Hereditary Motor Neuropathy Type 7

ClinVar genetic disease variations for Distal Hereditary Motor Neuropathy Type 7:

6 (show top 50) (show all 558)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DCTN1 NM_004082.4(DCTN1):c.175G>A (p.Gly59Ser) SNV Pathogenic 8401 rs121909342 GRCh37: 2:74605231-74605231
GRCh38: 2:74378104-74378104
2 SLC5A7 NM_021815.5(SLC5A7):c.1497del (p.Lys499fs) Deletion Pathogenic 39495 rs1558872865 GRCh37: 2:108627071-108627071
GRCh38: 2:108010615-108010615
3 DCTN1 NM_004082.4(DCTN1):c.175G>A (p.Gly59Ser) SNV Pathogenic 8401 rs121909342 GRCh37: 2:74605231-74605231
GRCh38: 2:74378104-74378104
4 DCTN1 NM_004082.4(DCTN1):c.557C>T (p.Pro186Leu) SNV Uncertain significance 391470 rs916359967 GRCh37: 2:74598752-74598752
GRCh38: 2:74371625-74371625
5 DCTN1 NM_001135040.2(DCTN1):c.394-1207G>A SNV Uncertain significance 565725 rs149447433 GRCh37: 2:74600062-74600062
GRCh38: 2:74372935-74372935
6 DCTN1 NM_004082.4(DCTN1):c.279+1G>T SNV Uncertain significance 565763 rs1393363759 GRCh37: 2:74605126-74605126
GRCh38: 2:74377999-74377999
7 DCTN1 NM_004082.4(DCTN1):c.2290G>A (p.Val764Ile) SNV Uncertain significance 565854 rs753618444 GRCh37: 2:74594198-74594198
GRCh38: 2:74367071-74367071
8 DCTN1 NM_004082.4(DCTN1):c.629T>G (p.Leu210Arg) SNV Uncertain significance 566375 rs1558943273 GRCh37: 2:74598680-74598680
GRCh38: 2:74371553-74371553
9 DCTN1 NM_004082.4(DCTN1):c.2909A>G (p.Asn970Ser) SNV Uncertain significance 566389 rs568812456 GRCh37: 2:74592762-74592762
GRCh38: 2:74365635-74365635
10 DCTN1 NM_004082.4(DCTN1):c.823C>T (p.Arg275Cys) SNV Uncertain significance 567626 rs775294408 GRCh37: 2:74598126-74598126
GRCh38: 2:74370999-74370999
11 DCTN1 NM_004082.4(DCTN1):c.1997C>T (p.Thr666Met) SNV Uncertain significance 567916 rs143914684 GRCh37: 2:74595116-74595116
GRCh38: 2:74367989-74367989
12 DCTN1 NM_004082.4(DCTN1):c.2633A>G (p.Tyr878Cys) SNV Uncertain significance 568956 rs778201974 GRCh37: 2:74593498-74593498
GRCh38: 2:74366371-74366371
13 DCTN1 NM_004082.5(DCTN1):c.332C>G (p.Ser111Cys) SNV Uncertain significance 834539 GRCh37: 2:74604801-74604801
GRCh38: 2:74377674-74377674
14 SLC5A7 NM_021815.5(SLC5A7):c.121G>A (p.Ala41Thr) SNV Uncertain significance 834976 GRCh37: 2:108604732-108604732
GRCh38: 2:107988276-107988276
15 DCTN1 NM_004082.5(DCTN1):c.3750C>G (p.Phe1250Leu) SNV Uncertain significance 835939 GRCh37: 2:74588713-74588713
GRCh38: 2:74361586-74361586
16 DCTN1 NM_004082.4(DCTN1):c.100G>C (p.Glu34Gln) SNV Uncertain significance 808781 rs151052060 GRCh37: 2:74605306-74605306
GRCh38: 2:74378179-74378179
17 DCTN1 NM_004082.5(DCTN1):c.1259A>G (p.Glu420Gly) SNV Uncertain significance 836640 GRCh37: 2:74597341-74597341
GRCh38: 2:74370214-74370214
18 SLC5A7 NM_021815.5(SLC5A7):c.1414A>G (p.Ile472Val) SNV Uncertain significance 838607 GRCh37: 2:108626988-108626988
GRCh38: 2:108010532-108010532
19 DCTN1 NM_004082.5(DCTN1):c.2795G>A (p.Arg932His) SNV Uncertain significance 839578 GRCh37: 2:74593111-74593111
GRCh38: 2:74365984-74365984
20 DCTN1 NM_004082.5(DCTN1):c.414+6G>A SNV Uncertain significance 840193 GRCh37: 2:74603863-74603863
GRCh38: 2:74376736-74376736
21 SLC5A7 NM_021815.5(SLC5A7):c.952A>G (p.Met318Val) SNV Uncertain significance 840722 GRCh37: 2:108624977-108624977
GRCh38: 2:108008521-108008521
22 DCTN1 NM_004082.5(DCTN1):c.835G>A (p.Ala279Thr) SNV Uncertain significance 841138 GRCh37: 2:74598114-74598114
GRCh38: 2:74370987-74370987
23 DCTN1 NM_004082.5(DCTN1):c.1504C>T (p.Arg502Cys) SNV Uncertain significance 843850 GRCh37: 2:74596507-74596507
GRCh38: 2:74369380-74369380
24 DCTN1 NM_004082.5(DCTN1):c.1226G>A (p.Arg409Gln) SNV Uncertain significance 844212 GRCh37: 2:74597374-74597374
GRCh38: 2:74370247-74370247
25 DCTN1 NM_004082.5(DCTN1):c.3640C>T (p.Arg1214Cys) SNV Uncertain significance 844403 GRCh37: 2:74589238-74589238
GRCh38: 2:74362111-74362111
26 DCTN1 NM_004082.5(DCTN1):c.539G>A (p.Ser180Asn) SNV Uncertain significance 844946 GRCh37: 2:74598770-74598770
GRCh38: 2:74371643-74371643
27 SLC5A7 NM_021815.5(SLC5A7):c.1727A>T (p.Glu576Val) SNV Uncertain significance 845541 GRCh37: 2:108627301-108627301
GRCh38: 2:108010845-108010845
28 DCTN1 NM_004082.5(DCTN1):c.1573G>A (p.Ala525Thr) SNV Uncertain significance 845556 GRCh37: 2:74596438-74596438
GRCh38: 2:74369311-74369311
29 DCTN1 NM_004082.5(DCTN1):c.632C>T (p.Pro211Leu) SNV Uncertain significance 847069 GRCh37: 2:74598677-74598677
GRCh38: 2:74371550-74371550
30 SLC5A7 NM_021815.5(SLC5A7):c.1549G>A (p.Val517Ile) SNV Uncertain significance 549706 rs773393717 GRCh37: 2:108627123-108627123
GRCh38: 2:108010667-108010667
31 DCTN1 NM_004082.5(DCTN1):c.2686C>G (p.Leu896Val) SNV Uncertain significance 848831 GRCh37: 2:74593445-74593445
GRCh38: 2:74366318-74366318
32 DCTN1 NM_004082.5(DCTN1):c.178G>A (p.Val60Met) SNV Uncertain significance 851216 GRCh37: 2:74605228-74605228
GRCh38: 2:74378101-74378101
33 DCTN1 NM_004082.5(DCTN1):c.2793dup (p.Arg932fs) Duplication Uncertain significance 851699 GRCh37: 2:74593112-74593113
GRCh38: 2:74365985-74365986
34 DCTN1 NM_004082.5(DCTN1):c.2371T>C (p.Cys791Arg) SNV Uncertain significance 852663 GRCh37: 2:74594005-74594005
GRCh38: 2:74366878-74366878
35 SLC5A7 NM_021815.5(SLC5A7):c.113G>A (p.Arg38His) SNV Uncertain significance 853219 GRCh37: 2:108604724-108604724
GRCh38: 2:107988268-107988268
36 DCTN1 NM_004082.5(DCTN1):c.443G>A (p.Arg148Gln) SNV Uncertain significance 854179 GRCh37: 2:74600065-74600065
GRCh38: 2:74372938-74372938
37 DCTN1 NM_004082.5(DCTN1):c.287T>C (p.Val96Ala) SNV Uncertain significance 854775 GRCh37: 2:74604846-74604846
GRCh38: 2:74377719-74377719
38 DCTN1 NM_004082.5(DCTN1):c.394-10C>A SNV Uncertain significance 855051 GRCh37: 2:74603899-74603899
GRCh38: 2:74376772-74376772
39 DCTN1 NM_004082.5(DCTN1):c.2303G>A (p.Arg768His) SNV Uncertain significance 856546 GRCh37: 2:74594185-74594185
GRCh38: 2:74367058-74367058
40 DCTN1 NM_004082.5(DCTN1):c.518C>T (p.Ala173Val) SNV Uncertain significance 856593 GRCh37: 2:74598791-74598791
GRCh38: 2:74371664-74371664
41 DCTN1 NM_004082.5(DCTN1):c.1747C>G (p.Arg583Gly) SNV Uncertain significance 858167 GRCh37: 2:74595962-74595962
GRCh38: 2:74368835-74368835
42 DCTN1 NM_004082.5(DCTN1):c.258C>T (p.Gly86=) SNV Uncertain significance 861111 GRCh37: 2:74605148-74605148
GRCh38: 2:74378021-74378021
43 DCTN1 NM_004082.5(DCTN1):c.874C>T (p.Arg292Cys) SNV Uncertain significance 861784 GRCh37: 2:74597922-74597922
GRCh38: 2:74370795-74370795
44 DCTN1 NM_004082.5(DCTN1):c.674G>A (p.Arg225Gln) SNV Uncertain significance 862813 GRCh37: 2:74598275-74598275
GRCh38: 2:74371148-74371148
45 DCTN1 NM_004082.5(DCTN1):c.3440C>T (p.Ala1147Val) SNV Uncertain significance 863932 GRCh37: 2:74590210-74590210
GRCh38: 2:74363083-74363083
46 DCTN1 NM_004082.5(DCTN1):c.3187A>G (p.Ile1063Val) SNV Uncertain significance 898514 GRCh37: 2:74592211-74592211
GRCh38: 2:74365084-74365084
47 DCTN1 NM_004082.5(DCTN1):c.2973C>G (p.Ile991Met) SNV Uncertain significance 898515 GRCh37: 2:74592698-74592698
GRCh38: 2:74365571-74365571
48 DCTN1 NM_004082.5(DCTN1):c.1059C>T (p.Gly353=) SNV Uncertain significance 898644 GRCh37: 2:74597661-74597661
GRCh38: 2:74370534-74370534
49 DCTN1 NM_004082.5(DCTN1):c.1048+4A>G SNV Uncertain significance 933372 GRCh37: 2:74597744-74597744
GRCh38: 2:74370617-74370617
50 DCTN1 NM_004082.5(DCTN1):c.3152C>T (p.Pro1051Leu) SNV Uncertain significance 933697 GRCh37: 2:74592246-74592246
GRCh38: 2:74365119-74365119

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 axon GO:0030424 8.96 SLC5A7 DCTN1
2 neuronal cell body GO:0043025 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....