MCID: CHR699
MIFTS: 28

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
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
Charcot-Marie-Tooth Disease, Type 2a2 39
Charcot-Marie-Tooth Disease Type 2a2 15
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 tooth disease and charcot-marie-tooth disease. An important gene associated with Charcot-Marie-Tooth Disease Type 2a2a is MFN2 (Mitofusin 2). Affiliated tissues include eye and bone, and related phenotypes are behavior/neurological and growth/size/body region

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 top 50) (show all 82)
# Related Disease Score Top Affiliating Genes
1 tooth disease 27.1 SH3TC2 NEFL MPZ MFN2 LITAF KIF1B
2 charcot-marie-tooth disease 26.7 SH3TC2 PES1 NEFL MPZ MFN2 LITAF
3 charcot-marie-tooth disease, axonal, autosomal dominant, type 2a2a 11.5
4 charcot-marie-tooth disease type 2a 10.4 MFN2 KIF1B
5 charcot-marie-tooth neuropathy type 2a 10.3 MFN2 KIF1B
6 asymmetric motor neuropathy 10.3 PES1 MFN2
7 charcot-marie-tooth disease, dominant intermediate d 10.3 MPZ KIF1B
8 charcot-marie-tooth disease, recessive intermediate a 10.3 MFN2 GDAP1
9 sciatic neuropathy 10.2 SH3TC2 PES1
10 mononeuritis of lower limb 10.2 SH3TC2 PES1
11 lesion of sciatic nerve 10.2 SH3TC2 PES1
12 neuropathy, hereditary motor and sensory, russe type 10.2 SH3TC2 GDAP1
13 charcot-marie-tooth disease, axonal, type 2b1 10.2 MFN2 GDAP1
14 autoimmune peripheral neuropathy 10.1 MPZ GJB1
15 charcot-marie-tooth disease, type 4b3 10.1 SH3TC2 GDAP1
16 neuropathy, hereditary sensory and autonomic, type ic 10.1 SH3TC2 LITAF
17 charcot-marie-tooth disease, axonal, type 2p 10.1 LITAF GDAP1
18 argyll robertson pupil 10.1 PES1 MPZ GDAP1
19 abnormal pupillary function 10.1 PES1 MPZ GDAP1
20 charcot-marie-tooth disease, type 4k 10.1 SH3TC2 LITAF
21 pupil disease 10.1 PES1 MPZ GDAP1
22 charcot-marie-tooth disease, dominant intermediate e 10.1 SH3TC2 MPZ GDAP1
23 charcot-marie-tooth disease, type 4h 10.0 SH3TC2 MPZ GDAP1
24 hereditary neuropathies 10.0 MPZ MFN2 GJB1
25 charcot-marie-tooth disease, dominant intermediate a 10.0 MPZ GJB1 GDAP1
26 mononeuropathy 10.0 SH3TC2 PES1 MPZ
27 nerve compression syndrome 10.0 SH3TC2 PES1 MPZ
28 charcot-marie-tooth disease, type 4j 10.0 SH3TC2 LITAF GDAP1
29 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 10.0 MPZ GJB1
30 charcot-marie-tooth disease x-linked recessive 4 10.0 PES1 MPZ GJB1
31 hereditary sensory and autonomic neuropathy type 1 10.0 SH3TC2 LITAF GDAP1
32 charcot-marie-tooth disease, axonal, type 2q 9.9 PES1 MPZ GJB1
33 charcot-marie-tooth disease, axonal, type 2a1 9.9 MPZ MFN2 KIF1B GDAP1
34 spinal muscular atrophy, distal, autosomal recessive, 2 9.9 MFN2 GARS1
35 charcot-marie-tooth disease, axonal, type 2u 9.9 SH3TC2 GARS1
36 charcot-marie-tooth disease, dominant intermediate c 9.9 MPZ GDAP1 GARS1
37 waardenburg syndrome, type 4a 9.8 MPZ GJB1
38 charcot-marie-tooth disease, type 4b1 9.8 SH3TC2 MPZ LITAF GDAP1
39 3-methylglutaconic aciduria, type iii 9.7 PES1 MFN2 GJB1 GDAP1
40 bone structure disease 9.7 SH3TC2 PES1
41 optic nerve disease 9.7 PES1 NEFL MFN2 GDAP1
42 charcot-marie-tooth disease, axonal, type 2n 9.7 MFN2 KIF1B GDAP1 GARS1
43 charcot-marie-tooth disease, x-linked recessive, 2 9.7 PES1 MPZ LITAF GJB1
44 charcot-marie-tooth disease, axonal, type 2t 9.7 GDAP1 GAN
45 charcot-marie-tooth disease, axonal, type 2b2 9.5 NEFL MPZ MFN2 KIF1B GDAP1
46 charcot-marie-tooth disease, demyelinating, type 1d 9.5 MPZ LITAF KIF1B GJB1 GDAP1
47 charcot-marie-tooth disease, demyelinating, type 4f 9.4 SH3TC2 MPZ LITAF GJB1 GDAP1
48 charcot-marie-tooth disease, dominant intermediate b 9.4 SH3TC2 MPZ LITAF GJB1 GDAP1
49 charcot-marie-tooth disease, type 4b2 9.4 SH3TC2 MPZ LITAF GJB1 GDAP1
50 charcot-marie-tooth disease, type 4d 9.4 SH3TC2 MPZ LITAF GJB1 GDAP1

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 9.81 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 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

MalaCards organs/tissues related to Charcot-Marie-Tooth Disease Type 2a2a:

40
Eye, Bone

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

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 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 2a2a

3 CDC
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