MCID: AXN013
MIFTS: 13

Axonal Hereditary Motor and Sensory Neuropathy

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Axonal Hereditary Motor and Sensory Neuropathy

MalaCards integrated aliases for Axonal Hereditary Motor and Sensory Neuropathy:

Name: Axonal Hereditary Motor and Sensory Neuropathy 58
Axonal Hmsn 58

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Orphanet 58 ORPHA476109

Summaries for Axonal Hereditary Motor and Sensory Neuropathy

MalaCards based summary : Axonal Hereditary Motor and Sensory Neuropathy, also known as axonal hmsn, is related to autosomal recessive axonal hereditary motor and sensory neuropathy and neuropathy. An important gene associated with Axonal Hereditary Motor and Sensory Neuropathy is LMNA (Lamin A/C). Related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Related Diseases for Axonal Hereditary Motor and Sensory Neuropathy

Graphical network of the top 20 diseases related to Axonal Hereditary Motor and Sensory Neuropathy:



Diseases related to Axonal Hereditary Motor and Sensory Neuropathy

Symptoms & Phenotypes for Axonal Hereditary Motor and Sensory Neuropathy

GenomeRNAi Phenotypes related to Axonal Hereditary Motor and Sensory Neuropathy according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 9.23 LMNA
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-171 9.23 SLC12A6
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-22 9.23 SLC12A6
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-33 9.23 SLC12A6
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.23 LMNA SLC12A6
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.23 LMNA
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-95 9.23 SLC12A6

MGI Mouse Phenotypes related to Axonal Hereditary Motor and Sensory Neuropathy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 8.8 LMNA MME SLC12A6

Drugs & Therapeutics for Axonal Hereditary Motor and Sensory Neuropathy

Search Clinical Trials , NIH Clinical Center for Axonal Hereditary Motor and Sensory Neuropathy

Genetic Tests for Axonal Hereditary Motor and Sensory Neuropathy

Anatomical Context for Axonal Hereditary Motor and Sensory Neuropathy

Publications for Axonal Hereditary Motor and Sensory Neuropathy

Articles related to Axonal Hereditary Motor and Sensory Neuropathy:

# Title Authors PMID Year
1
Practically applicable nerve ultrasound models for the diagnosis of axonal and demyelinating hereditary motor and sensory neuropathies (HMSN). 61
29185050 2018
2
COX6A1 mutation causes axonal hereditary motor and sensory neuropathy - the confirmation of the primary report. 61
26302975 2016
3
Novel mutations in the DYNC1H1 tail domain refine the genetic and clinical spectrum of dyneinopathies. 61
25512093 2015
4
Ubiquitin ligase defect by DCAF8 mutation causes HMSN2 with giant axons. 61
24500646 2014
5
Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations. 61
20008656 2009
6
Hereditary motor and sensory neuropathy IIB: clinical and electrodiagnostic characteristics. 61
9008488 1997
7
HMSN III phenotype due to homozygous expression of a dominant HMSN II gene. 61
1436537 1992
8
Hereditary motor and sensory neuropathies in Swedish children. II. Neuronal-axonal types. 61
6579819 1983

Variations for Axonal Hereditary Motor and Sensory Neuropathy

Expression for Axonal Hereditary Motor and Sensory Neuropathy

Search GEO for disease gene expression data for Axonal Hereditary Motor and Sensory Neuropathy.

Pathways for Axonal Hereditary Motor and Sensory Neuropathy

GO Terms for Axonal Hereditary Motor and Sensory Neuropathy

Sources for Axonal Hereditary Motor and Sensory 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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