MCID: ATS452
MIFTS: 18

Autosomal Recessive Axonal Hereditary Motor and Sensory Neuropathy

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Autosomal Recessive Axonal Hereditary Motor and Sensory...

MalaCards integrated aliases for Autosomal Recessive Axonal Hereditary Motor and Sensory Neuropathy:

Name: Autosomal Recessive Axonal Hereditary Motor and Sensory Neuropathy 58 6
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2 58
Ar-Cmt2 58

Characteristics:

Orphanet epidemiological data:

58

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 33 G60.0
Orphanet 58 ORPHA91024

Summaries for Autosomal Recessive Axonal Hereditary Motor and Sensory...

MalaCards based summary : Autosomal Recessive Axonal Hereditary Motor and Sensory Neuropathy, also known as autosomal recessive axonal charcot-marie-tooth disease type 2, is related to neuropathy and charcot-marie-tooth disease type 2a2b. An important gene associated with Autosomal Recessive 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 Autosomal Recessive Axonal Hereditary Motor and Sensory...

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



Diseases related to Autosomal Recessive Axonal Hereditary Motor and Sensory Neuropathy

Symptoms & Phenotypes for Autosomal Recessive Axonal Hereditary Motor and Sensory...

GenomeRNAi Phenotypes related to Autosomal Recessive 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 Autosomal Recessive 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 Autosomal Recessive Axonal Hereditary Motor and Sensory...

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

Genetic Tests for Autosomal Recessive Axonal Hereditary Motor and Sensory...

Anatomical Context for Autosomal Recessive Axonal Hereditary Motor and Sensory...

Publications for Autosomal Recessive Axonal Hereditary Motor and Sensory...

Articles related to Autosomal Recessive Axonal Hereditary Motor and Sensory Neuropathy:

(show all 17)
# Title Authors PMID Year
1
Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review. 61
28364294 2017
2
IGHMBP2-related clinical and genetic features in a cohort of Chinese Charcot-Marie-Tooth disease type 2 patients. 61
28065684 2017
3
SBF1 mutations associated with autosomal recessive axonal neuropathy with cranial nerve involvement. 61
28005197 2017
4
Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2. 61
26991897 2016
5
[Experience in molecular diagnostic in hereditary neuropathies in a pediatric tertiary hospital]. 61
26602803 2015
6
Botulinum toxin treatment of pes cavovarus in a child suffering from autosomal recessive axonal Charcot-Marie-Tooth neuropathy (AR-CMT2). 61
24980632 2015
7
Lack of GDAP1 induces neuronal calcium and mitochondrial defects in a knockout mouse model of charcot-marie-tooth neuropathy. 61
25860513 2015
8
Hereditary motor and sensory neuropathies or Charcot-Marie-Tooth diseases: an update. 61
25454638 2014
9
[Guidelines for molecular diagnosis of Charcot-Marie-Tooth disease]. 61
21703725 2012
10
Mitochondrial dysfunction and pathophysiology of Charcot-Marie-Tooth disease involving GDAP1 mutations. 61
20849849 2011
11
Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth disease. 61
20865121 2010
12
Novel mutations in the GDAP1 gene in patients affected with early-onset axonal Charcot-Marie-Tooth type 4A. 61
19500985 2009
13
[Molecular genetics of inherited neuropathies]. 61
16541790 2006
14
[From gene to disease; Charcot-Marie-Tooth disease or the hereditary motor and sensory neuropathies]. 61
16032995 2005
15
[Autosomal recessive forms of Charcot-Marie-Tooth disease]. 61
16119880 2005
16
Autosomal recessive forms of Charcot-Marie-Tooth disease. 61
15324608 2004
17
Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse. 61
11799477 2002

Variations for Autosomal Recessive Axonal Hereditary Motor and Sensory...

ClinVar genetic disease variations for Autosomal Recessive Axonal Hereditary Motor and Sensory Neuropathy:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LMNA NM_170707.4(LMNA):c.892C>T (p.Arg298Cys)SNV Pathogenic 14498 rs59885338 1:156105059-156105059 1:156135268-156135268
2 MME NM_000902.4(MME):c.769C>A (p.Arg257Ser)SNV Uncertain significance 549701 rs145687755 3:154855939-154855939 3:155138150-155138150
3 SLC12A6 NM_001365088.1(SLC12A6):c.1970del (p.Val657fs)deletion Uncertain significance 549703 rs1555378419 15:34536247-34536247 15:34244046-34244046

Expression for Autosomal Recessive Axonal Hereditary Motor and Sensory...

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

Pathways for Autosomal Recessive Axonal Hereditary Motor and Sensory...

GO Terms for Autosomal Recessive Axonal Hereditary Motor and Sensory...

Sources for Autosomal Recessive Axonal Hereditary Motor and Sensory...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
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44 MESH via Orphanet
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48 NCI
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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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