MCID: CHR622
MIFTS: 19

Charcot-Marie-Tooth Disease Type 2a2

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

Aliases & Classifications for Charcot-Marie-Tooth Disease Type 2a2

MalaCards integrated aliases for Charcot-Marie-Tooth Disease Type 2a2:

Name: Charcot-Marie-Tooth Disease Type 2a2 12 15
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2a2 12
Charcot-Marie-Tooth Disease, Axonal, Type 2a2 72
Hereditary Motor and Sensory Neuropathy Iia2 12
Charcot-Marie-Tooth Neuropathy Type 2a2 12
Charcot-Marie-Tooth Neuronal Type 2a2 12
Charcot-Marie-Tooth Disease, Type 2a2 40
Hmsn Iia2 12
Hmsn2a2 12
Cmt2a2 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0110155
ICD10 33 G60.0
UMLS 72 C1836485

Summaries for Charcot-Marie-Tooth Disease Type 2a2

Disease Ontology : 12 A Charcot-Marie-Tooth disease type 2 that has material basis in heterozygous mutation in the MFN2 gene on chromosome 1p36.2.

MalaCards based summary : Charcot-Marie-Tooth Disease Type 2a2, also known as autosomal dominant axonal charcot-marie-tooth disease type 2a2, is related to charcot-marie-tooth disease and charcot-marie-tooth disease, axonal, autosomal dominant, type 2a2a, and has symptoms including pain An important gene associated with Charcot-Marie-Tooth Disease Type 2a2 is MFN2 (Mitofusin 2).

Related Diseases for Charcot-Marie-Tooth Disease Type 2a2

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 D
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, Dominant Intermediate E
Charcot-Marie-Tooth Disease, Dominant Intermediate F Charcot-Marie-Tooth Disease, Type 4b3
Charcot-Marie-Tooth Disease, Recessive Intermediate C Charcot-Marie-Tooth Disease, Recessive Intermediate D
Charcot-Marie-Tooth Disease, Type 4k Charcot-Marie-Tooth Disease, Dominant Intermediate G
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 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 2a2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 19)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease 28.9 TRIM2 MFN2 DNAJB2 COX6A1
2 charcot-marie-tooth disease, axonal, autosomal dominant, type 2a2a 11.8
3 tooth disease 10.5
4 3-methylglutaconic aciduria, type iii 10.2
5 optic nerve disease 10.2
6 spastic paraplegia 46, autosomal recessive 9.8 SPG21 COX6A1
7 charcot-marie-tooth disease, axonal, type 2k 9.6 MFN2 DNAJB2
8 axonal neuropathy 9.3 TRIM2 MFN2
9 charcot-marie-tooth disease intermediate type 8.7 TRIM2 SPG21 DNAJB2 COX6A1
10 charcot-marie-tooth disease, recessive intermediate d 8.7 TRIM2 SPG21 DNAJB2 COX6A1
11 charcot-marie-tooth disease, axonal, type 2h 8.6 TRIM2 SPG21 DNAJB2 COX6A1
12 charcot-marie-tooth disease, axonal, type 2r 8.6 TRIM2 SPG21 DNAJB2 COX6A1
13 spastic paraplegia 55, autosomal recessive 8.6 TRIM2 SPG21 DNAJB2 COX6A1
14 charcot-marie-tooth disease, axonal, type 2p 8.6 TRIM2 SPG21 DNAJB2 COX6A1
15 charcot-marie-tooth disease, axonal, type 2b2 8.6 TRIM2 SPG21 DNAJB2 COX6A1
16 charcot-marie-tooth disease, axonal, type 2b1 8.6 TRIM2 SPG21 DNAJB2 COX6A1
17 amyotrophic lateral sclerosis type 5 8.5 TRIM2 SPG21 DNAJB2 COX6A1
18 charcot-marie-tooth disease, axonal, type 2t 8.5 TRIM2 SPG21 DNAJB2 COX6A1
19 charcot-marie-tooth disease, axonal, type 2e 8.0 TRIM2 SPG21 MFN2 DNAJB2 COX6A1

Graphical network of the top 20 diseases related to Charcot-Marie-Tooth Disease Type 2a2:



Diseases related to Charcot-Marie-Tooth Disease Type 2a2

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease Type 2a2

UMLS symptoms related to Charcot-Marie-Tooth Disease Type 2a2:


pain

Drugs & Therapeutics for Charcot-Marie-Tooth Disease Type 2a2

Search Clinical Trials , NIH Clinical Center for Charcot-Marie-Tooth Disease Type 2a2

Genetic Tests for Charcot-Marie-Tooth Disease Type 2a2

Anatomical Context for Charcot-Marie-Tooth Disease Type 2a2

Publications for Charcot-Marie-Tooth Disease Type 2a2

Articles related to Charcot-Marie-Tooth Disease Type 2a2:

# Title Authors PMID Year
1
MFN2 transcripts escaping from nonsense-mediated mRNA decay pathway cause Charcot-Marie-Tooth disease type 2A2. 38
27154191 2016
2
ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease. 38
26556829 2016
3
Mitofusin 2 gene mutation causing early-onset CMT2A with different progressive courses. 38
22762946 2013
4
A novel mitofusin 2 mutation causes canine fetal-onset neuroaxonal dystrophy. 38
21643798 2011

Variations for Charcot-Marie-Tooth Disease Type 2a2

Expression for Charcot-Marie-Tooth Disease Type 2a2

Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease Type 2a2.

Pathways for Charcot-Marie-Tooth Disease Type 2a2

GO Terms for Charcot-Marie-Tooth Disease Type 2a2

Biological processes related to Charcot-Marie-Tooth Disease Type 2a2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to unfolded protein GO:0006986 8.62 MFN2 DNAJB2

Sources for Charcot-Marie-Tooth Disease Type 2a2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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28 GO
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30 HGMD
31 HMDB
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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