MCID: CHR700
MIFTS: 17

Charcot-Marie-Tooth Disease Type 2a2b

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

Aliases & Classifications for Charcot-Marie-Tooth Disease Type 2a2b

MalaCards integrated aliases for Charcot-Marie-Tooth Disease Type 2a2b:

Name: Charcot-Marie-Tooth Disease Type 2a2b 12 15
Autosomal Recessive Charcot-Marie-Tooth Disease, Ouvrier Type 12 58
Severe Early-Onset Axonal Neuropathy Due to Mfn2 Deficiency 12 58
Seoan Due to Mfn2 Deficiency 12 58
Ar-Cmt2, Ouvrier Type 12 58
Charcot-Marie-Tooth Disease, Axonal, Type 2a2b 12
Cmt2a2b 12

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0111557
ICD10 via Orphanet 33 G60.0
Orphanet 58 ORPHA90118

Summaries for Charcot-Marie-Tooth Disease Type 2a2b

Disease Ontology : 12 A Charcot-Marie-Tooth disease type 2 characterized by onset of peripheral neuropathy in the first years of life that has material basis in homozygous or compound heterozygous mutation in MFN2 on chromosome 1p36.22.

MalaCards based summary : Charcot-Marie-Tooth Disease Type 2a2b, also known as autosomal recessive charcot-marie-tooth disease, ouvrier type, is related to charcot-marie-tooth disease, axonal, autosomal recessive, type 2a2b and neuropathy, hereditary motor and sensory, type via, with optic atrophy. An important gene associated with Charcot-Marie-Tooth Disease Type 2a2b is MFN2 (Mitofusin 2).

Related Diseases for Charcot-Marie-Tooth Disease Type 2a2b

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 2a2a Charcot-Marie-Tooth Disease Type 2a2b
Charcot-Marie-Tooth Disease Type 1g 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 2a2b via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, axonal, autosomal recessive, type 2a2b 12.1
2 neuropathy, hereditary motor and sensory, type via, with optic atrophy 9.9 TEFM MFN2
3 mitochondrial dna depletion syndrome 2 9.9 TEFM PRIMPOL
4 leber optic atrophy 9.7 TFB1M MFN2
5 mitochondrial dna depletion syndrome 4a 9.5 PRIMPOL MGME1
6 kearns-sayre syndrome 9.4 MGME1 MFN2
7 mitochondrial metabolism disease 9.2 TFB1M MGME1 MFN2
8 mitochondrial dna depletion syndrome 1 8.4 UQCC2 TFB1M TEFM PRIMPOL MGME1
9 mitochondrial dna depletion syndrome 14 8.4 UQCC2 TFB1M TEFM PRIMPOL MGME1
10 mitochondrial dna depletion syndrome 11 8.4 UQCC2 TFB1M TEFM PRIMPOL MGME1
11 mitochondrial dna depletion syndrome 8a 8.4 UQCC2 TFB1M TEFM PRIMPOL MGME1

Graphical network of the top 20 diseases related to Charcot-Marie-Tooth Disease Type 2a2b:



Diseases related to Charcot-Marie-Tooth Disease Type 2a2b

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease Type 2a2b

Drugs & Therapeutics for Charcot-Marie-Tooth Disease Type 2a2b

Search Clinical Trials , NIH Clinical Center for Charcot-Marie-Tooth Disease Type 2a2b

Genetic Tests for Charcot-Marie-Tooth Disease Type 2a2b

Anatomical Context for Charcot-Marie-Tooth Disease Type 2a2b

Publications for Charcot-Marie-Tooth Disease Type 2a2b

Variations for Charcot-Marie-Tooth Disease Type 2a2b

Expression for Charcot-Marie-Tooth Disease Type 2a2b

Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease Type 2a2b.

Pathways for Charcot-Marie-Tooth Disease Type 2a2b

GO Terms for Charcot-Marie-Tooth Disease Type 2a2b

Cellular components related to Charcot-Marie-Tooth Disease Type 2a2b according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 9.46 UQCC2 TFB1M TEFM PRIMPOL
2 mitochondrion GO:0005739 9.43 UQCC2 TFB1M TEFM PRIMPOL MGME1 MFN2
3 mitochondrial nucleoid GO:0042645 8.8 UQCC2 TFB1M TEFM

Biological processes related to Charcot-Marie-Tooth Disease Type 2a2b according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial DNA repair GO:0043504 8.96 PRIMPOL MGME1
2 mitochondrial DNA replication GO:0006264 8.8 TEFM PRIMPOL MGME1

Sources for Charcot-Marie-Tooth Disease Type 2a2b

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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