MCID: CHR116
MIFTS: 5

Charcot-Marie-Tooth Neuropathy Type 2e/1f

Categories: Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Charcot-Marie-Tooth Neuropathy Type 2e/1f

MalaCards integrated aliases for Charcot-Marie-Tooth Neuropathy Type 2e/1f:

Name: Charcot-Marie-Tooth Neuropathy Type 2e/1f 25
Cmt2e/1f 25

Characteristics:

GeneReviews:

25
Penetrance Penetrance is most likely to be complete...

Classifications:



Summaries for Charcot-Marie-Tooth Neuropathy Type 2e/1f

MalaCards based summary : Charcot-Marie-Tooth Neuropathy Type 2e/1f, also known as cmt2e/1f, is related to neuropathy.

GeneReviews: NBK1187

Related Diseases for Charcot-Marie-Tooth Neuropathy Type 2e/1f

Diseases in the Charcot-Marie-Tooth Hereditary Neuropathy family:

Charcot-Marie-Tooth Neuropathy Type 2a Charcot-Marie-Tooth Neuropathy Type 2e/1f
Charcot-Marie-Tooth Neuropathy Type 4j Charcot-Marie-Tooth Neuropathy X Type 1
Charcot-Marie-Tooth Neuropathy X Type 5 Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy

Diseases related to Charcot-Marie-Tooth Neuropathy Type 2e/1f via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 neuropathy 10.5

Symptoms & Phenotypes for Charcot-Marie-Tooth Neuropathy Type 2e/1f

Drugs & Therapeutics for Charcot-Marie-Tooth Neuropathy Type 2e/1f

Search Clinical Trials , NIH Clinical Center for Charcot-Marie-Tooth Neuropathy Type 2e/1f

Genetic Tests for Charcot-Marie-Tooth Neuropathy Type 2e/1f

Anatomical Context for Charcot-Marie-Tooth Neuropathy Type 2e/1f

Publications for Charcot-Marie-Tooth Neuropathy Type 2e/1f

Articles related to Charcot-Marie-Tooth Neuropathy Type 2e/1f:

# Title Authors Year
1
Painful Charcot-Marie-Tooth neuropathy type 2E/1F due to a novel NEFL mutation. ( 27649278 )
2017

Variations for Charcot-Marie-Tooth Neuropathy Type 2e/1f

Expression for Charcot-Marie-Tooth Neuropathy Type 2e/1f

Search GEO for disease gene expression data for Charcot-Marie-Tooth Neuropathy Type 2e/1f.

Pathways for Charcot-Marie-Tooth Neuropathy Type 2e/1f

GO Terms for Charcot-Marie-Tooth Neuropathy Type 2e/1f

Sources for Charcot-Marie-Tooth Neuropathy Type 2e/1f

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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