MCID: ATS274
MIFTS: 12

Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease

Categories: Eye diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease

MalaCards integrated aliases for Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease:

Name: Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease 52 58
Ri-Cmt 52 58

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 33 G60.0
Orphanet 58 ORPHA268337

Summaries for Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease

MalaCards based summary : Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease, also known as ri-cmt, is related to charcot-marie-tooth disease, recessive intermediate a and charcot-marie-tooth disease, recessive intermediate c. An important gene associated with Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease is PLEKHG5 (Pleckstrin Homology And RhoGEF Domain Containing G5).

Related Diseases for Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease

Diseases in the Charcot-Marie-Tooth Disease family:

Charcot-Marie-Tooth Disease, Type 4a Charcot-Marie-Tooth Disease, Type 4b1
Charcot-Marie-Tooth Disease, Type 4d Charcot-Marie-Tooth Disease, Type 4c
Charcot-Marie-Tooth Disease, Type 4b2 Charcot-Marie-Tooth Disease, Dominant Intermediate B
Charcot-Marie-Tooth Disease, Dominant Intermediate a Charcot-Marie-Tooth Disease, Dominant Intermediate D
Charcot-Marie-Tooth Disease, Dominant Intermediate C Charcot-Marie-Tooth Disease, Recessive Intermediate a
Charcot-Marie-Tooth Disease, Type 4h Charcot-Marie-Tooth Disease, Type 4j
Charcot-Marie-Tooth Disease, Recessive Intermediate B Charcot-Marie-Tooth Disease, Dominant Intermediate E
Charcot-Marie-Tooth Disease, Dominant Intermediate F Charcot-Marie-Tooth Disease, Type 4b3
Charcot-Marie-Tooth Disease, Recessive Intermediate C Charcot-Marie-Tooth Disease, Recessive Intermediate D
Charcot-Marie-Tooth Disease, Type 4k Charcot-Marie-Tooth Disease, Dominant Intermediate G
Charcot-Marie-Tooth Disease Type X Charcot-Marie-Tooth Disease Intermediate Type
Charcot-Marie-Tooth Disease Type 5 Charcot-Marie-Tooth Disease Type 7
Charcot-Marie-Tooth Disease Type 2a2a Charcot-Marie-Tooth Disease Type 2a2b
Charcot-Marie-Tooth Disease Type 1g Autosomal Dominant Intermediate Charcot-Marie-Tooth
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease Type 2a
Charcot-Marie-Tooth Disease Type 2l Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation Dnajb2-Related Charcot-Marie-Tooth Disease Type 2
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g

Diseases related to Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 9, show less)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, recessive intermediate a 12.5
2 charcot-marie-tooth disease, recessive intermediate c 12.3
3 charcot-marie-tooth disease, recessive intermediate b 12.0
4 charcot-marie-tooth disease, recessive intermediate d 11.9
5 charcot-marie-tooth disease 10.4
6 tooth disease 10.4
7 motor neuron disease 10.4
8 sensory peripheral neuropathy 10.4
9 axonal neuropathy 10.4

Graphical network of the top 20 diseases related to Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease:



Diseases related to Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease

Symptoms & Phenotypes for Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease

Drugs & Therapeutics for Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease

Search Clinical Trials , NIH Clinical Center for Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease

Genetic Tests for Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease

Anatomical Context for Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease

Publications for Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease

Articles related to Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease:

(showing 4, show less)
# Title Authors PMID Year
1
Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review. 61
28364294 2017
2
Intermediate Charcot-Marie-Tooth disease. 61
25326399 2014
3
Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease. 61
23844677 2013
4
Two recessive intermediate Charcot-Marie-Tooth patients with GDAP1 mutations. 61
21692914 2011

Variations for Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease

Expression for Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease

Search GEO for disease gene expression data for Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease.

Pathways for Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease

GO Terms for Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease

Sources for Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease

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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