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 59
X-Linked Distal Spinal Muscular Atrophy 59
X-Linked Dhmn 59

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 34 G12.2
Orphanet 59 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 10.4
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
Characterizing the molecular phenotype of an Atp7a(T985I) conditional knock in mouse model for X-linked distal hereditary motor neuropathy (dHMNX). 38
27293072 2016
2
Inborn errors of copper metabolism. 38
23622398 2013
3
Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy. 38
20170900 2010
4
X-linked distal hereditary motor neuropathy maps to the DSMAX locus on chromosome Xq13.1-q21. 38
19153371 2009
5
Syndromic choroideremia: sublocalization of phenotypes associated with Martin-Probst deafness mental retardation syndrome. 38
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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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