MCID: ATS274
MIFTS: 12

Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease

Categories: Eye diseases, Genetic diseases, Metabolic diseases, Muscle 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 54
Ri-Cmt 54

Classifications:



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 b. 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 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, Type 4b3 Charcot-Marie-Tooth Disease, Recessive Intermediate C
Charcot-Marie-Tooth Disease, Type 4k 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 2a2
Autosomal Dominant Intermediate Charcot-Marie-Tooth Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease Type 2a
Charcot-Marie-Tooth Disease Type 2c Charcot-Marie-Tooth Disease Type 2f
Charcot-Marie-Tooth Disease Type 2g Charcot-Marie-Tooth Disease Type 2k
Charcot-Marie-Tooth Disease Type 2l Charcot-Marie-Tooth Disease Type 2n
Charcot-Marie-Tooth Disease Type 2o Charcot-Marie-Tooth Disease Type 2q
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 Pmp2-Related Charcot-Marie-Tooth Disease Type 1
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:

# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, recessive intermediate a 12.3
2 charcot-marie-tooth disease, recessive intermediate b 11.9
3 charcot-marie-tooth disease, recessive intermediate c 11.8
4 charcot-marie-tooth disease, recessive intermediate d 11.8
5 charcot-marie-tooth disease 10.4
6 tooth disease 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:

# Title Authors Year
1
Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease. ( 23844677 )
2013

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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