MCID: CHR622
MIFTS: 22

Charcot-Marie-Tooth Disease Type 2a2

Categories: Genetic diseases, Metabolic diseases, Muscle 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
Charcot-Marie-Tooth Disease, Type 2a2 13 41
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2a2 12
Charcot-Marie-Tooth Disease, Axonal, Type 2a2 74
Hereditary Motor and Sensory Neuropathy Iia2 12
Charcot-Marie-Tooth Neuropathy Type 2a2 12
Charcot-Marie-Tooth Neuronal Type 2a2 12
Hmsn Iia2 12
Hmsn2a2 12
Cmt2a2 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0110155
ICD10 34 G60.0
UMLS 74 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 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 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 2a2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease 29.6 COX6A1 DNAJB2 MFN2 TRIM2
2 charcot-marie-tooth disease, axonal, autosomal dominant, type 2a2a 11.6
3 tooth disease 10.5
4 spastic paraplegia 46, autosomal recessive 9.8 COX6A1 SPG21
5 charcot-marie-tooth disease, axonal, type 2k 9.8 DNAJB2 MFN2
6 axonal neuropathy 9.5 MFN2 TRIM2
7 charcot-marie-tooth disease intermediate type 9.2 COX6A1 DNAJB2 SPG21 TRIM2
8 charcot-marie-tooth disease, axonal, type 2h 9.2 COX6A1 DNAJB2 SPG21 TRIM2
9 charcot-marie-tooth disease, recessive intermediate d 9.2 COX6A1 DNAJB2 SPG21 TRIM2
10 spastic paraplegia 55, autosomal recessive 9.2 COX6A1 DNAJB2 SPG21 TRIM2
11 charcot-marie-tooth disease, axonal, type 2r 9.1 COX6A1 DNAJB2 SPG21 TRIM2
12 charcot-marie-tooth disease, axonal, type 2b1 9.1 COX6A1 DNAJB2 SPG21 TRIM2
13 charcot-marie-tooth disease, axonal, type 2b2 9.1 COX6A1 DNAJB2 SPG21 TRIM2
14 charcot-marie-tooth disease, axonal, type 2p 9.1 COX6A1 DNAJB2 SPG21 TRIM2
15 amyotrophic lateral sclerosis type 5 9.1 COX6A1 DNAJB2 SPG21 TRIM2
16 charcot-marie-tooth disease, axonal, type 2t 9.1 COX6A1 DNAJB2 SPG21 TRIM2
17 charcot-marie-tooth disease, axonal, type 2e 8.8 COX6A1 DNAJB2 MFN2 SPG21 TRIM2

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 Year
1
MFN2 transcripts escaping from nonsense-mediated mRNA decay pathway cause Charcot-Marie-Tooth disease type 2A2. ( 27154191 )
2016

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 DNAJB2 MFN2

Sources for Charcot-Marie-Tooth Disease Type 2a2

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
Content
Loading form....