MCID: CHR549
MIFTS: 18

Charcot-Marie-Tooth Disease Type 2l

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

Aliases & Classifications for Charcot-Marie-Tooth Disease Type 2l

MalaCards integrated aliases for Charcot-Marie-Tooth Disease Type 2l:

Name: Charcot-Marie-Tooth Disease Type 2l 54
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2l 54
Charcot-Marie-Tooth Disease, Axonal, Type 2l 74
Charcot-Marie-Tooth Disease, Type 2i 74
Cmt2l 54

Classifications:



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Summaries for Charcot-Marie-Tooth Disease Type 2l

MalaCards based summary : Charcot-Marie-Tooth Disease Type 2l, also known as autosomal dominant charcot-marie-tooth disease type 2l, is related to charcot-marie-tooth disease, axonal, type 2l and charcot-marie-tooth disease. An important gene associated with Charcot-Marie-Tooth Disease Type 2l is HSPB8 (Heat Shock Protein Family B (Small) Member 8).

Related Diseases for Charcot-Marie-Tooth Disease Type 2l

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 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g

Diseases related to Charcot-Marie-Tooth Disease Type 2l via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, axonal, type 2l 12.4
2 charcot-marie-tooth disease 10.8
3 tooth disease 10.8

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease Type 2l

Drugs & Therapeutics for Charcot-Marie-Tooth Disease Type 2l

Search Clinical Trials , NIH Clinical Center for Charcot-Marie-Tooth Disease Type 2l

Genetic Tests for Charcot-Marie-Tooth Disease Type 2l

Anatomical Context for Charcot-Marie-Tooth Disease Type 2l

Publications for Charcot-Marie-Tooth Disease Type 2l

Articles related to Charcot-Marie-Tooth Disease Type 2l:

# Title Authors Year
1
A novel transgenic mouse model of Chinese Charcot-Marie-Tooth disease type 2L. ( 25206829 )
2014
2
A novel Lys141Thr mutation in small heat shock protein 22 (HSPB8) gene in Charcot-Marie-Tooth disease type 2L. ( 23796487 )
2013
3
[The effect of HSPB8 gene mutation on cell viability in Charcot-Marie-Tooth disease type 2L]. ( 21983727 )
2011
4
[Cloning to rule out 10 candidate genes located in chromosome 12q24 for Charcot-Marie-Tooth disease type 2L]. ( 16604494 )
2006
5
Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L. ( 15565283 )
2005

Variations for Charcot-Marie-Tooth Disease Type 2l

Expression for Charcot-Marie-Tooth Disease Type 2l

Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease Type 2l.

Pathways for Charcot-Marie-Tooth Disease Type 2l

GO Terms for Charcot-Marie-Tooth Disease Type 2l

Sources for Charcot-Marie-Tooth Disease Type 2l

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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