MCID: CHR549
MIFTS: 18

Charcot-Marie-Tooth Disease Type 2l

Categories: Rare diseases, Genetic diseases, Neuronal diseases, Metabolic diseases, Muscle 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 53
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2l 53
Charcot-Marie-Tooth Disease, Axonal, Type 2l 73
Charcot-Marie-Tooth Disease, Type 2i 73
Cmt2l 53

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 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 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 12.2
2 charcot-marie-tooth disease 10.7
3 tooth disease 10.7

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 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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