DHMN7
MCID: DST092
MIFTS: 14

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 60
Distal Spinal Muscular Atrophy with Vocal Cord Paralysis 60
Dhmn7 60

Characteristics:

Orphanet epidemiological data:

60
distal hereditary motor neuropathy type 7
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood;

Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 35 G12.2
Orphanet 60 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 neuronopathy, distal hereditary motor, type viia and spinal muscular atrophy. An important gene associated with Distal Hereditary Motor Neuropathy Type 7 is SLC5A7 (Solute Carrier Family 5 Member 7).

Related Diseases for Distal Hereditary Motor Neuropathy Type 7

Diseases in the Distal Hereditary Motor Neuropathies family:

Distal Hereditary Motor Neuropathy, Type Ii Distal Hereditary Motor Neuropathy, Type V
Distal Hereditary Motor Neuropathy Type 7

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

# Related Disease Score Top Affiliating Genes
1 neuronopathy, distal hereditary motor, type viia 12.0
2 spinal muscular atrophy 10.5
3 muscular atrophy 10.5
4 distal hereditary motor neuropathies 10.4

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

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 DCTN1 SLC5A7
2 axon GO:0030424 8.62 DCTN1 SLC5A7

Sources for Distal Hereditary Motor Neuropathy Type 7

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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