MCID: CHR622
MIFTS: 24

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 71
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 39
Hmsn Iia2 12
Hmsn2a2 12
Cmt2a2 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0110155
ICD10 32 G60.0
UMLS 71 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 3-methylglutaconic aciduria, type iii and optic nerve disease, and has symptoms including pain An important gene associated with Charcot-Marie-Tooth Disease Type 2a2 is MFN2 (Mitofusin 2). Related phenotypes are behavior/neurological and growth/size/body region

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 Recessive Intermediate Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease Type 2a
Charcot-Marie-Tooth Disease Type 2l 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:

(showing 82, show less)
# Related Disease Score Top Affiliating Genes
1 3-methylglutaconic aciduria, type iii 29.9 PES1 MFN2 GJB1 GDAP1
2 optic nerve disease 29.9 PES1 NEFL MFN2 GDAP1
3 tooth disease 27.1 SH3TC2 NEFL MPZ MFN2 LITAF KIF1B
4 charcot-marie-tooth disease 26.7 SH3TC2 PES1 NEFL MPZ MFN2 LITAF
5 charcot-marie-tooth disease, axonal, autosomal dominant, type 2a2a 11.8
6 charcot-marie-tooth disease type 2a 10.4 MFN2 KIF1B
7 charcot-marie-tooth neuropathy type 2a 10.3 MFN2 KIF1B
8 asymmetric motor neuropathy 10.3 PES1 MFN2
9 charcot-marie-tooth disease, dominant intermediate d 10.3 MPZ KIF1B
10 charcot-marie-tooth disease, recessive intermediate a 10.3 MFN2 GDAP1
11 optic atrophy 1 10.2
12 sciatic neuropathy 10.2 SH3TC2 PES1
13 mononeuritis of lower limb 10.2 SH3TC2 PES1
14 lesion of sciatic nerve 10.2 SH3TC2 PES1
15 neuropathy, hereditary motor and sensory, russe type 10.2 SH3TC2 GDAP1
16 charcot-marie-tooth disease, axonal, type 2b1 10.2 MFN2 GDAP1
17 autoimmune peripheral neuropathy 10.1 MPZ GJB1
18 charcot-marie-tooth disease, type 4b3 10.1 SH3TC2 GDAP1
19 neuropathy, hereditary sensory and autonomic, type ic 10.1 SH3TC2 LITAF
20 charcot-marie-tooth disease, axonal, type 2p 10.1 LITAF GDAP1
21 argyll robertson pupil 10.1 PES1 MPZ GDAP1
22 charcot-marie-tooth disease, type 4k 10.1 SH3TC2 LITAF
23 abnormal pupillary function 10.1 PES1 MPZ GDAP1
24 pupil disease 10.1 PES1 MPZ GDAP1
25 charcot-marie-tooth disease, dominant intermediate e 10.1 SH3TC2 MPZ GDAP1
26 charcot-marie-tooth disease, type 4h 10.0 SH3TC2 MPZ GDAP1
27 hereditary neuropathies 10.0 MPZ MFN2 GJB1
28 charcot-marie-tooth disease, dominant intermediate a 10.0 MPZ GJB1 GDAP1
29 mononeuropathy 10.0 SH3TC2 PES1 MPZ
30 nerve compression syndrome 10.0 SH3TC2 PES1 MPZ
31 charcot-marie-tooth disease, type 4j 10.0 SH3TC2 LITAF GDAP1
32 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 10.0 MPZ GJB1
33 charcot-marie-tooth disease x-linked recessive 4 10.0 PES1 MPZ GJB1
34 hereditary sensory and autonomic neuropathy type 1 10.0 SH3TC2 LITAF GDAP1
35 charcot-marie-tooth disease, axonal, type 2q 9.9 PES1 MPZ GJB1
36 charcot-marie-tooth disease, axonal, type 2a1 9.9 MPZ MFN2 KIF1B GDAP1
37 spinal muscular atrophy, distal, autosomal recessive, 2 9.9 MFN2 GARS1
38 charcot-marie-tooth disease, axonal, type 2u 9.9 SH3TC2 GARS1
39 charcot-marie-tooth disease, dominant intermediate c 9.9 MPZ GDAP1 GARS1
40 waardenburg syndrome, type 4a 9.8 MPZ GJB1
41 charcot-marie-tooth disease, type 4b1 9.8 SH3TC2 MPZ LITAF GDAP1
42 bone structure disease 9.7 SH3TC2 PES1
43 charcot-marie-tooth disease, axonal, type 2n 9.7 MFN2 KIF1B GDAP1 GARS1
44 charcot-marie-tooth disease, x-linked recessive, 2 9.7 PES1 MPZ LITAF GJB1
45 charcot-marie-tooth disease, axonal, type 2t 9.7 GDAP1 GAN
46 charcot-marie-tooth disease, axonal, type 2b2 9.5 NEFL MPZ MFN2 KIF1B GDAP1
47 charcot-marie-tooth disease, demyelinating, type 1d 9.5 MPZ LITAF KIF1B GJB1 GDAP1
48 charcot-marie-tooth disease, demyelinating, type 4f 9.4 SH3TC2 MPZ LITAF GJB1 GDAP1
49 charcot-marie-tooth disease, dominant intermediate b 9.4 SH3TC2 MPZ LITAF GJB1 GDAP1
50 charcot-marie-tooth disease, type 4b2 9.4 SH3TC2 MPZ LITAF GJB1 GDAP1
51 charcot-marie-tooth disease, type 4d 9.4 SH3TC2 MPZ LITAF GJB1 GDAP1
52 charcot-marie-tooth disease, axonal, type 2cc 9.4 PES1 NEFL MPZ MFN2 GJB1
53 charcot-marie-tooth disease, type 4a 9.3 SH3TC2 MPZ MFN2 KIF1B GJB1 GDAP1
54 charcot-marie-tooth disease, demyelinating, type 1f 9.3 SH3TC2 NEFL MPZ LITAF GJB1
55 polyneuropathy 9.2 SH3TC2 MPZ MFN2 LITAF GJB1 GDAP1
56 neuropathy, hereditary sensory and autonomic, type iia 9.2 SH3TC2 MFN2 LITAF GDAP1 GAN
57 charcot-marie-tooth disease type x 9.1 SH3TC2 PES1 MPZ MFN2 KIF1B GJB1
58 charcot-marie-tooth disease, axonal, type 2l 9.1 NEFL MPZ MFN2 KIF1B GDAP1 GARS1
59 charcot-marie-tooth disease, axonal, type 2j 9.0 SH3TC2 PES1 NEFL MPZ MFN2 KIF1B
60 charcot-marie-tooth disease, type 4c 9.0 SH3TC2 MPZ MFN2 LITAF KIF1B GJB1
61 axonal neuropathy 8.9 NEFL MFN2 GDAP1 GARS1 GAN
62 charcot-marie-tooth disease, demyelinating, type 1c 8.8 SH3TC2 NEFL MPZ LITAF KIF1B GJB1
63 charcot-marie-tooth disease/hereditary motor and sensory neuropathy 8.8 SH3TC2 MPZ MFN2 KIF1B GJB1 GDAP1
64 charcot-marie-tooth disease intermediate type 8.8 SH3TC2 MPZ MFN2 LITAF GJB1 GDAP1
65 charcot-marie-tooth disease, axonal, type 2f 8.8 NEFL MPZ MFN2 KIF1B GJB1 GDAP1
66 charcot-marie-tooth disease, axonal, type 2d 8.8 NEFL MPZ MFN2 KIF1B GJB1 GDAP1
67 motor peripheral neuropathy 8.5 SH3TC2 PES1 NEFL LITAF GJB1 GDAP1
68 hereditary motor and sensory neuropathy, type iic 8.5 SH3TC2 NEFL MPZ MFN2 KIF1B GJB1
69 charcot-marie-tooth disease, demyelinating, type 1a 8.4 SH3TC2 PES1 NEFL MPZ MFN2 LITAF
70 sensory peripheral neuropathy 8.3 SH3TC2 PES1 MPZ MFN2 LITAF KIF1B
71 charcot-marie-tooth disease, axonal, type 2i 8.3 SH3TC2 PES1 MPZ MFN2 LITAF KIF1B
72 charcot-marie-tooth disease, x-linked dominant, 1 8.3 SH3TC2 PES1 MPZ MFN2 LITAF KIF1B
73 charcot-marie-tooth disease, demyelinating, type 1b 8.3 SH3TC2 PES1 MPZ MFN2 LITAF KIF1B
74 charcot-marie-tooth disease, axonal, type 2b 8.2 SH3TC2 NEFL MPZ MFN2 LITAF KIF1B
75 neuropathy 8.1 SH3TC2 NEFL MPZ MFN2 GJB1 GDAP1
76 hypertrophic neuropathy of dejerine-sottas 7.9 SH3TC2 PES1 NEFL MPZ MFN2 LITAF
77 peripheral nervous system disease 7.3 SH3TC2 PES1 NEFL MPZ MFN2 LITAF
78 neuromuscular disease 7.3 SH3TC2 PES1 NEFL MPZ MFN2 LITAF
79 charcot-marie-tooth disease, axonal, type 2e 7.3 SH3TC2 PES1 NEFL MPZ MFN2 LITAF
80 neuropathy, congenital hypomyelinating, 1, autosomal recessive 7.3 SH3TC2 PES1 NEFL MPZ MFN2 LITAF
81 neuropathy, hereditary, with liability to pressure palsies 7.3 SH3TC2 PES1 NEFL MPZ MFN2 LITAF
82 charcot-marie-tooth disease and deafness 7.2 SH3TC2 PES1 NEFL MPZ MFN2 LITAF

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

MGI Mouse Phenotypes related to Charcot-Marie-Tooth Disease Type 2a2:

45 (showing 3, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.81 GAN GARS1 GDAP1 GJB1 KIF1B MFN2
2 growth/size/body region MP:0005378 9.56 GAN GARS1 GJB1 KIF1B MFN2 MPZ
3 nervous system MP:0003631 9.32 GAN GARS1 GDAP1 GJB1 KIF1B LITAF

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:

(showing 4, show less)
# Title Authors PMID Year
1
MFN2 transcripts escaping from nonsense-mediated mRNA decay pathway cause Charcot-Marie-Tooth disease type 2A2. 61
27154191 2016
2
ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease. 61
26556829 2016
3
Mitofusin 2 gene mutation causing early-onset CMT2A with different progressive courses. 61
22762946 2013
4
A novel mitofusin 2 mutation causes canine fetal-onset neuroaxonal dystrophy. 61
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:

(showing 3, show less)
# Name GO ID Score Top Affiliating Genes
1 anterograde axonal transport GO:0008089 9.16 NEFL KIF1B
2 protein targeting to mitochondrion GO:0006626 8.96 MFN2 GDAP1
3 mitochondrial fusion GO:0008053 8.62 MFN2 GDAP1

Sources for Charcot-Marie-Tooth Disease Type 2a2

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
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70 Tocris
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72 UMLS via Orphanet
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