MCID: ATS452
MIFTS: 16

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 59 6
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2 59
Ar-Cmt2 59

Characteristics:

Orphanet epidemiological data:

59

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 34 G60.0
Orphanet 59 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 severe early-onset axonal neuropathy due to mfn2 deficiency and hereditary motor and sensory neuropathy with acrodystrophy. An important gene associated with Autosomal Recessive Axonal Hereditary Motor and Sensory Neuropathy is MME (Membrane Metalloendopeptidase). Related phenotype is integument.

Related Diseases for Autosomal Recessive Axonal Hereditary Motor and Sensory...

Diseases in the Acute Motor and Sensory Axonal Neuropathy family:

Autosomal Dominant Hereditary Axonal Motor and Sensory Neuropathy Axonal Hereditary Motor and Sensory Neuropathy
Autosomal Recessive Axonal Hereditary Motor and Sensory Neuropathy

Diseases related to Autosomal Recessive Axonal Hereditary Motor and Sensory Neuropathy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 severe early-onset axonal neuropathy due to mfn2 deficiency 11.2
2 hereditary motor and sensory neuropathy with acrodystrophy 11.2
3 neuropathy 10.3
4 charcot-marie-tooth disease, axonal, type 2e 9.5 SLC12A6 MME

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

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 8.62 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. 38
28364294 2017
2
IGHMBP2-related clinical and genetic features in a cohort of Chinese Charcot-Marie-Tooth disease type 2 patients. 38
28065684 2017
3
SBF1 mutations associated with autosomal recessive axonal neuropathy with cranial nerve involvement. 38
28005197 2017
4
Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2. 38
26991897 2016
5
[Experience in molecular diagnostic in hereditary neuropathies in a pediatric tertiary hospital]. 38
26602803 2015
6
Botulinum toxin treatment of pes cavovarus in a child suffering from autosomal recessive axonal Charcot-Marie-Tooth neuropathy (AR-CMT2). 38
24980632 2015
7
Lack of GDAP1 induces neuronal calcium and mitochondrial defects in a knockout mouse model of charcot-marie-tooth neuropathy. 38
25860513 2015
8
Hereditary motor and sensory neuropathies or Charcot-Marie-Tooth diseases: an update. 38
25454638 2014
9
[Guidelines for molecular diagnosis of Charcot-Marie-Tooth disease]. 38
21703725 2012
10
Mitochondrial dysfunction and pathophysiology of Charcot-Marie-Tooth disease involving GDAP1 mutations. 38
20849849 2011
11
Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth disease. 38
20865121 2010
12
Novel mutations in the GDAP1 gene in patients affected with early-onset axonal Charcot-Marie-Tooth type 4A. 38
19500985 2009
13
[Molecular genetics of inherited neuropathies]. 38
16541790 2006
14
[From gene to disease; Charcot-Marie-Tooth disease or the hereditary motor and sensory neuropathies]. 38
16032995 2005
15
[Autosomal recessive forms of Charcot-Marie-Tooth disease]. 38
16119880 2005
16
Autosomal recessive forms of Charcot-Marie-Tooth disease. 38
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. 38
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 Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MME NM_000902.4(MME): c.769C> A (p.Arg257Ser) single nucleotide variant Uncertain significance rs145687755 3:154855939-154855939 3:155138150-155138150
2 SLC12A6 NM_005135.2(SLC12A6): c.1817del (p.Val606fs) deletion Uncertain significance 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...

Cellular components related to Autosomal Recessive Axonal Hereditary Motor and Sensory Neuropathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 8.62 SLC12A6 MME

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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
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45 MESH via Orphanet
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49 NCI
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
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72 UMLS
73 UMLS via Orphanet
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