MCID: CHR116
MIFTS: 6

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 24
Cmt2e/1f 24

Characteristics:

GeneReviews:

24
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 10.7

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 )
2016
2
Charcot-Marie-Tooth Neuropathy Type 2E/1F ( 20301366 )
1993

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 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
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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