MCID: CHR699
MIFTS: 23

Charcot-Marie-Tooth Disease Type 2a2a

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

Aliases & Classifications for Charcot-Marie-Tooth Disease Type 2a2a

MalaCards integrated aliases for Charcot-Marie-Tooth Disease Type 2a2a:

Name: Charcot-Marie-Tooth Disease Type 2a2a 12 15
Charcot-Marie-Tooth Disease, Type 2a2a 29 6
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2a2 12
Hereditary Motor and Sensory Neuropathy Iia2 12
Charcot-Marie-Tooth Neuropathy Type 2a2 12
Charcot-Marie-Tooth Neuronal Type 2a2 12
Hmsn Iia2 12
Cmt2a2a 12
Hmsn2a2 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0110155
ICD10 32 G60.0

Summaries for Charcot-Marie-Tooth Disease Type 2a2a

Disease Ontology : 12 A Charcot-Marie-Tooth disease type 2 that has material basis in heterozygous mutation in the MFN2 gene on chromosome 1p36.22.

MalaCards based summary : Charcot-Marie-Tooth Disease Type 2a2a, also known as charcot-marie-tooth disease, type 2a2a, is related to charcot-marie-tooth disease, axonal, autosomal dominant, type 2a2a and combined oxidative phosphorylation deficiency 7. An important gene associated with Charcot-Marie-Tooth Disease Type 2a2a is MFN2 (Mitofusin 2). Related phenotype is behavior/neurological.

Related Diseases for Charcot-Marie-Tooth Disease Type 2a2a

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 2a2a via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 38)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, axonal, autosomal dominant, type 2a2a 11.5
2 combined oxidative phosphorylation deficiency 7 10.2 MFN2 C12orf65
3 neuropathy, hereditary sensory, type iic 10.2 SPG21 C12orf65
4 neuropathy, hereditary motor and sensory, type via, with optic atrophy 10.2 MFN2 C12orf65
5 spastic paraplegia 63, autosomal recessive 10.2 SPG21 C12orf65
6 charcot-marie-tooth disease, axonal, type 2a1 10.1 MFN2 LRSAM1
7 hereditary neuropathies 10.1 MFN2 DNAJB2
8 behr syndrome 10.1 MFN2 C12orf65
9 masa syndrome 10.1 SPG21 C12orf65
10 spastic paraplegia 49, autosomal recessive 10.1 SPG21 CYP2U1
11 spastic paraplegia 54, autosomal recessive 10.0 SPG21 CYP2U1
12 spastic paraplegia 56, autosomal recessive 10.0 SPG21 CYP2U1
13 spastic paraplegia 46, autosomal recessive 10.0 SPG21 CYP2U1
14 spastic paraplegia 48, autosomal recessive 10.0 SPG21 CYP2U1
15 neuropathy, hereditary, with liability to pressure palsies 9.9 MFN2 LRSAM1
16 charcot-marie-tooth disease, axonal, type 2b1 9.9 SPG21 MFN2 LRSAM1
17 spinal muscular atrophy, distal, autosomal recessive, 1 9.9 LRSAM1 IGHMBP2
18 charcot-marie-tooth disease intermediate type 9.9 MFN2 LRSAM1 DNAJB2
19 paraplegia 9.8 SPG21 CYP2U1 C12orf65
20 autosomal dominant distal hereditary motor neuronopathy 9.8 MFN2 IGHMBP2
21 neuronopathy, distal hereditary motor, type va 9.8 MFN2 IGHMBP2 DNAJB2
22 motor peripheral neuropathy 9.8 MFN2 IGHMBP2 DNAJB2
23 neuromuscular disease 9.6 MFN2 LRSAM1 IGHMBP2
24 charcot-marie-tooth disease, axonal, type 2p 9.6 SPG21 LRSAM1 DNAJB2 C12orf65
25 mitochondrial metabolism disease 9.6 MFN2 COX6A1 C12orf65
26 neuropathy 9.5 TRIM2 MFN2 IGHMBP2
27 hereditary spastic paraplegia 9.5 SPG21 CYP2U1 C12orf65
28 charcot-marie-tooth disease/hereditary motor and sensory neuropathy 9.5 MFN2 LRSAM1 IGHMBP2 DNAJB2
29 axonal neuropathy 9.4 TRIM2 MFN2
30 charcot-marie-tooth disease, recessive intermediate d 8.7 SPG21 LRSAM1 DNAJB2 CYP2U1 COX6A1 C12orf65
31 tooth disease 8.7 TRIM2 MFN2 LRSAM1 IGHMBP2 COX6A1
32 charcot-marie-tooth disease 8.1 TRIM2 MFN2 LRSAM1 IGHMBP2 DNAJB2 COX6A1
33 charcot-marie-tooth disease, axonal, type 2r 8.1 TRIM2 SPG21 LRSAM1 DNAJB2 CYP2U1 COX6A1
34 spastic paraplegia 55, autosomal recessive 8.1 TRIM2 SPG21 LRSAM1 DNAJB2 CYP2U1 COX6A1
35 charcot-marie-tooth disease, axonal, type 2h 8.1 TRIM2 SPG21 LRSAM1 DNAJB2 CYP2U1 COX6A1
36 charcot-marie-tooth disease, axonal, type 2b2 7.9 TRIM2 SPG21 MFN2 LRSAM1 DNAJB2 CYP2U1
37 charcot-marie-tooth disease, axonal, type 2t 7.7 TRIM2 SPG21 LRSAM1 IGHMBP2 DNAJB2 CYP2U1
38 charcot-marie-tooth disease, axonal, type 2e 7.5 TRIM2 SPG21 MFN2 LRSAM1 IGHMBP2 DNAJB2

Graphical network of the top 20 diseases related to Charcot-Marie-Tooth Disease Type 2a2a:



Diseases related to Charcot-Marie-Tooth Disease Type 2a2a

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease Type 2a2a

MGI Mouse Phenotypes related to Charcot-Marie-Tooth Disease Type 2a2a:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.17 COX6A1 CYP2U1 DNAJB2 IGHMBP2 LRSAM1 MFN2

Drugs & Therapeutics for Charcot-Marie-Tooth Disease Type 2a2a

Search Clinical Trials , NIH Clinical Center for Charcot-Marie-Tooth Disease Type 2a2a

Genetic Tests for Charcot-Marie-Tooth Disease Type 2a2a

Genetic tests related to Charcot-Marie-Tooth Disease Type 2a2a:

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease, Type 2a2a 29 MFN2

Anatomical Context for Charcot-Marie-Tooth Disease Type 2a2a

Publications for Charcot-Marie-Tooth Disease Type 2a2a

Articles related to Charcot-Marie-Tooth Disease Type 2a2a:

# Title Authors PMID Year
1
ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease. 61
26556829 2016

Variations for Charcot-Marie-Tooth Disease Type 2a2a

ClinVar genetic disease variations for Charcot-Marie-Tooth Disease Type 2a2a:

6 (show all 40) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MFN2 NM_014874.3(MFN2):c.281G>A (p.Arg94Gln)SNV Pathogenic 2268 rs28940291 1:12052717-12052717 1:11992660-11992660
2 MFN2 NM_014874.3(MFN2):c.2219G>C (p.Trp740Ser)SNV Pathogenic 2269 rs28940292 1:12071567-12071567 1:12011510-12011510
3 MFN2 NM_014874.3(MFN2):c.227T>C (p.Leu76Pro)SNV Pathogenic 2270 rs28940293 1:12052663-12052663 1:11992606-11992606
4 MFN2 NM_014874.3(MFN2):c.839G>A (p.Arg280His)SNV Pathogenic 2271 rs28940294 1:12061480-12061480 1:12001423-12001423
5 MFN2 NM_014874.3(MFN2):c.751C>G (p.Pro251Ala)SNV Pathogenic 2272 rs28940295 1:12059087-12059087 1:11999030-11999030
6 MFN2 NM_014874.3(MFN2):c.205G>T (p.Val69Phe)SNV Pathogenic 2273 rs28940296 1:12052641-12052641 1:11992584-11992584
7 MFN2 NM_014874.3(MFN2):c.280C>T (p.Arg94Trp)SNV Pathogenic 2276 rs119103263 1:12052716-12052716 1:11992659-11992659
8 MFN2 NM_014874.3(MFN2):c.1090C>T (p.Arg364Trp)SNV Pathogenic 2278 rs119103265 1:12062090-12062090 1:12002033-12002033
9 MFN2 NM_014874.3(MFN2):c.310C>T (p.Arg104Trp)SNV Pathogenic 2281 rs119103268 1:12052746-12052746 1:11992689-11992689
10 MFN2 NM_014874.4(MFN2):c.746C>T (p.Ser249Phe)SNV Pathogenic 202171 rs794729198 1:12059082-12059082 1:11999025-11999025
11 MFN2 NM_014874.4(MFN2):c.2256C>A (p.Tyr752Ter)SNV Pathogenic 217162 rs863224968 1:12071604-12071604 1:12011547-12011547
12 MFN2 NM_001127660.1(MFN2):c.730G>T (p.Val244Leu)SNV Pathogenic 243057 rs879253777 1:12059066-12059066 1:11999009-11999009
13 MFN2 NM_014874.3(MFN2):c.494A>G (p.His165Arg)SNV Pathogenic 217164 rs863224970 1:12057373-12057373 1:11997316-11997316
14 MFN2 NM_014874.3(MFN2):c.730G>A (p.Val244Met)SNV Pathogenic 243066 rs879253777 1:12059066-12059066 1:11999009-11999009
15 MFN2 NM_014874.3(MFN2):c.707C>T (p.Thr236Met)SNV Pathogenic/Likely pathogenic 217165 rs773159585 1:12058934-12058934 1:11998877-11998877
16 MFN2 NM_014874.3(MFN2):c.1126A>G (p.Met376Val)SNV Pathogenic/Likely pathogenic 217161 rs863224967 1:12062126-12062126 1:12002069-12002069
17 MFN2 NM_014874.3(MFN2):c.775C>T (p.Arg259Cys)SNV Pathogenic/Likely pathogenic 155730 rs587777875 1:12059111-12059111 1:11999054-11999054
18 MFN2 NM_014874.3(MFN2):c.2119C>T (p.Arg707Trp)SNV Pathogenic/Likely pathogenic 2280 rs119103267 1:12069698-12069698 1:12009641-12009641
19 MFN2 NM_014874.3(MFN2):c.497C>T (p.Ala166Val)SNV Pathogenic/Likely pathogenic 575387 rs1557522849 1:12057376-12057376 1:11997319-11997319
20 MFN2 NM_014874.4(MFN2):c.616A>G (p.Thr206Ala)SNV Likely pathogenic 801442 1:12058843-12058843 1:11998786-11998786
21 MFN2 NM_014874.4(MFN2):c.638T>A (p.Ile213Asn)SNV Likely pathogenic 801443 1:12058865-12058865 1:11998808-11998808
22 MFN2 NM_014874.4(MFN2):c.839G>C (p.Arg280Pro)SNV Likely pathogenic 801444 1:12061480-12061480 1:12001423-12001423
23 MFN2 NM_014874.4(MFN2):c.1091G>T (p.Arg364Leu)SNV Likely pathogenic 801445 1:12062091-12062091 1:12002034-12002034
24 MFN2 NM_014874.3(MFN2):c.1071G>C (p.Lys357Asn)SNV Likely pathogenic 2274 rs119103261 1:12062071-12062071 1:12002014-12002014
25 MFN2 NM_014874.3(MFN2):c.1426C>G (p.Arg476Gly)SNV Likely pathogenic 523025 rs1266361856 1:12064915-12064915 1:12004858-12004858
26 MFN2 NM_014874.3(MFN2):c.1555C>T (p.Arg519Cys)SNV Likely pathogenic 522942 rs369140232 1:12065827-12065827 1:12005770-12005770
27 MFN2 NM_014874.3(MFN2):c.1085C>T (p.Thr362Met)SNV Likely pathogenic 30738 rs387906991 1:12062085-12062085 1:12002028-12002028
28 MFN2 NM_014874.3(MFN2):c.436C>T (p.Leu146Phe)SNV Likely pathogenic 217163 rs863224969 1:12056337-12056337 1:11996280-11996280
29 MFN2 NM_001127660.1(MFN2):c.479T>G (p.Val160Gly)SNV Likely pathogenic 243073 rs879253861 1:12057358-12057358 1:11997301-11997301
30 MFN2 NM_001127660.1(MFN2):c.526G>A (p.Gly176Ser)SNV Likely pathogenic 243074 rs879253862 1:12057405-12057405 1:11997348-11997348
31 MFN2 NM_001127660.1(MFN2):c.1946G>C (p.Arg649Pro)SNV Likely pathogenic 243067 rs763492075 1:12067183-12067183 1:12007126-12007126
32 MFN2 NM_014874.3(MFN2):c.653T>C (p.Leu218Pro)SNV Conflicting interpretations of pathogenicity 245744 rs879253925 1:12058880-12058880 1:11998823-11998823
33 MFN2 NM_014874.3(MFN2):c.892G>A (p.Gly298Arg)SNV Conflicting interpretations of pathogenicity 199133 rs41278630 1:12061533-12061533 1:12001476-12001476
34 MFN2 NM_014874.3(MFN2):c.1403G>A (p.Arg468His)SNV Conflicting interpretations of pathogenicity 2282 rs138382758 1:12064892-12064892 1:12004835-12004835
35 MFN2 NM_014874.3(MFN2):c.1392+2T>CSNV Conflicting interpretations of pathogenicity 30735 rs111723244 1:12064672-12064672 1:12004615-12004615
36 MFN2 NM_014874.3(MFN2):c.493C>G (p.His165Asp)SNV Conflicting interpretations of pathogenicity 2275 rs119103262 1:12057372-12057372 1:11997315-11997315
37 MFN2 NM_014874.4(MFN2):c.2258dup (p.Gln754fs)duplication Uncertain significance 637433 1:12071605-12071606 1:12011548-12011549
38 MFN2 NM_014874.4(MFN2):c.19C>T (p.Arg7Ter)SNV Uncertain significance 801440 1:12049244-12049244 1:11989187-11989187
39 MFN2 NM_014874.4(MFN2):c.286C>A (p.His96Asn)SNV Uncertain significance 801441 1:12052722-12052722 1:11992665-11992665
40 MFN2 NM_014874.3(MFN2):c.1143_1145GGC[1] (p.Ala383del)short repeat Uncertain significance 446368 rs1553144065 1:12062143-12062145 1:12002086-12002088

Expression for Charcot-Marie-Tooth Disease Type 2a2a

Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease Type 2a2a.

Pathways for Charcot-Marie-Tooth Disease Type 2a2a

GO Terms for Charcot-Marie-Tooth Disease Type 2a2a

Biological processes related to Charcot-Marie-Tooth Disease Type 2a2a 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 2a2a

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