MCID: XLN239
MIFTS: 12

X-Linked Distal Hereditary Motor Neuropathy

Categories: Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for X-Linked Distal Hereditary Motor Neuropathy

MalaCards integrated aliases for X-Linked Distal Hereditary Motor Neuropathy:

Name: X-Linked Distal Hereditary Motor Neuropathy 58
X-Linked Distal Spinal Muscular Atrophy 58
X-Linked Dhmn 58

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 33 G12.2
Orphanet 58 ORPHA404538

Summaries for X-Linked Distal Hereditary Motor Neuropathy

MalaCards based summary : X-Linked Distal Hereditary Motor Neuropathy, also known as x-linked distal spinal muscular atrophy, is related to spinal muscular atrophy, distal, x-linked 3 and neuropathy. An important gene associated with X-Linked Distal Hereditary Motor Neuropathy is ATP7A (ATPase Copper Transporting Alpha).

Related Diseases for X-Linked Distal Hereditary Motor Neuropathy

Diseases related to X-Linked Distal Hereditary Motor Neuropathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 spinal muscular atrophy, distal, x-linked 3 12.1
2 neuropathy 10.5
3 occipital horn syndrome 10.3
4 menkes disease 10.3
5 atp7a-related copper transport disorders 10.3
6 charcot-marie-tooth neuropathy x type 1 10.3
7 spinal muscular atrophy, x-linked 2 10.2
8 charcot-marie-tooth disease, x-linked dominant, 1 10.2
9 spinal muscular atrophy 10.2
10 muscular atrophy 10.2
11 distal hereditary motor neuropathies 10.2
12 charcot-marie-tooth hereditary neuropathy 10.2
13 giant axonal neuropathy 10.2

Graphical network of the top 20 diseases related to X-Linked Distal Hereditary Motor Neuropathy:



Diseases related to X-Linked Distal Hereditary Motor Neuropathy

Symptoms & Phenotypes for X-Linked Distal Hereditary Motor Neuropathy

Drugs & Therapeutics for X-Linked Distal Hereditary Motor Neuropathy

Search Clinical Trials , NIH Clinical Center for X-Linked Distal Hereditary Motor Neuropathy

Genetic Tests for X-Linked Distal Hereditary Motor Neuropathy

Anatomical Context for X-Linked Distal Hereditary Motor Neuropathy

Publications for X-Linked Distal Hereditary Motor Neuropathy

Articles related to X-Linked Distal Hereditary Motor Neuropathy:

# Title Authors PMID Year
1
Modelling the pathogenesis of X-linked distal hereditary motor neuropathy using patient-derived iPSCs. 61
31969342 2020
2
Characterizing the molecular phenotype of an Atp7a(T985I) conditional knock in mouse model for X-linked distal hereditary motor neuropathy (dHMNX). 61
27293072 2016
3
Inborn errors of copper metabolism. 61
23622398 2013
4
Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy. 61
20170900 2010
5
X-linked distal hereditary motor neuropathy maps to the DSMAX locus on chromosome Xq13.1-q21. 61
19153371 2009
6
Syndromic choroideremia: sublocalization of phenotypes associated with Martin-Probst deafness mental retardation syndrome. 61
18487380 2008

Variations for X-Linked Distal Hereditary Motor Neuropathy

Expression for X-Linked Distal Hereditary Motor Neuropathy

Search GEO for disease gene expression data for X-Linked Distal Hereditary Motor Neuropathy.

Pathways for X-Linked Distal Hereditary Motor Neuropathy

GO Terms for X-Linked Distal Hereditary Motor Neuropathy

Sources for X-Linked Distal Hereditary Motor Neuropathy

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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