MCID: CHR025
MIFTS: 23

Charcot-Marie-Tooth Disease Intermediate Type

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

Aliases & Classifications for Charcot-Marie-Tooth Disease Intermediate Type

MalaCards integrated aliases for Charcot-Marie-Tooth Disease Intermediate Type:

Name: Charcot-Marie-Tooth Disease Intermediate Type 12 15
Charcot-Marie-Tooth Disease Recessive Intermediate 12
Charcot-Marie-Tooth Disease Dominant Intermediate 12
Charcot-Marie-Tooth, Intermediate 6

Classifications:



External Ids:

Disease Ontology 12 DOID:0050543

Summaries for Charcot-Marie-Tooth Disease Intermediate Type

Disease Ontology : 12 A Charcot-Marie-Tooth disease characterized by motor conduction velocities above and below 38 m/s.

MalaCards based summary : Charcot-Marie-Tooth Disease Intermediate Type, also known as charcot-marie-tooth disease recessive intermediate, is related to charcot-marie-tooth disease, dominant intermediate c and charcot-marie-tooth disease, recessive intermediate d. An important gene associated with Charcot-Marie-Tooth Disease Intermediate Type is YARS (Tyrosyl-TRNA Synthetase), and among its related pathways/superpathways are tRNA Aminoacylation and AMPK Enzyme Complex Pathway.

Related Diseases for Charcot-Marie-Tooth Disease Intermediate Type

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 Intermediate Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 24)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, dominant intermediate c 32.0 YARS YARS2
2 charcot-marie-tooth disease, recessive intermediate d 31.5 COX6A1 DNAJB2 TRIM2
3 charcot-marie-tooth disease, dominant intermediate g 13.0
4 dnm2-related intermediate charcot-marie-tooth neuropathy 11.6
5 autosomal dominant intermediate charcot-marie-tooth disease type b 11.6
6 charcot-marie-tooth disease, dominant intermediate b 11.6
7 charcot-marie-tooth disease, dominant intermediate a 11.6
8 charcot-marie-tooth disease, dominant intermediate d 11.6
9 charcot-marie-tooth disease, recessive intermediate a 11.6
10 charcot-marie-tooth disease, recessive intermediate b 11.6
11 charcot-marie-tooth disease, dominant intermediate e 11.6
12 charcot-marie-tooth disease, dominant intermediate f 11.6
13 charcot-marie-tooth disease, recessive intermediate c 11.6
14 charcot-marie-tooth disease type 2a2 9.5 COX6A1 DNAJB2 TRIM2
15 charcot-marie-tooth disease, axonal, type 2h 9.5 COX6A1 DNAJB2 TRIM2
16 spastic paraplegia 55, autosomal recessive 9.4 COX6A1 DNAJB2 TRIM2
17 charcot-marie-tooth disease, axonal, type 2r 9.4 COX6A1 DNAJB2 TRIM2
18 charcot-marie-tooth disease, axonal, type 2b1 9.4 COX6A1 DNAJB2 TRIM2
19 charcot-marie-tooth disease, axonal, type 2b2 9.4 COX6A1 DNAJB2 TRIM2
20 charcot-marie-tooth disease, axonal, type 2p 9.4 COX6A1 DNAJB2 TRIM2
21 amyotrophic lateral sclerosis type 5 9.4 COX6A1 DNAJB2 TRIM2
22 charcot-marie-tooth disease, axonal, type 2t 9.3 COX6A1 DNAJB2 TRIM2
23 charcot-marie-tooth disease, axonal, type 2e 9.3 COX6A1 DNAJB2 TRIM2
24 charcot-marie-tooth disease 8.9 COX6A1 DNAJB2 GNB4 TRIM2 YARS

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



Diseases related to Charcot-Marie-Tooth Disease Intermediate Type

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease Intermediate Type

Drugs & Therapeutics for Charcot-Marie-Tooth Disease Intermediate Type

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

Genetic Tests for Charcot-Marie-Tooth Disease Intermediate Type

Anatomical Context for Charcot-Marie-Tooth Disease Intermediate Type

Publications for Charcot-Marie-Tooth Disease Intermediate Type

Variations for Charcot-Marie-Tooth Disease Intermediate Type

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

6 (show top 50) (show all 424)
# Gene Variation Type Significance SNP ID Assembly Location
1 MPZ; SDHC NM_003001.3(SDHC): c.20+11_20+12dupTG duplication Benign rs35215598 GRCh37 Chromosome 1, 161284226: 161284227
2 MPZ; SDHC NM_003001.3(SDHC): c.20+11_20+12dupTG duplication Benign rs35215598 GRCh38 Chromosome 1, 161314436: 161314437
3 MPZ NM_000530.6(MPZ): c.684C> T (p.Ser228=) single nucleotide variant Benign/Likely benign rs34307129 GRCh37 Chromosome 1, 161275729: 161275729
4 MPZ NM_000530.6(MPZ): c.684C> T (p.Ser228=) single nucleotide variant Benign/Likely benign rs34307129 GRCh38 Chromosome 1, 161305939: 161305939
5 DNM2 NM_001005360.2(DNM2): c.788C> T (p.Pro263Leu) single nucleotide variant Benign/Likely benign rs3745674 GRCh37 Chromosome 19, 10893735: 10893735
6 DNM2 NM_001005360.2(DNM2): c.788C> T (p.Pro263Leu) single nucleotide variant Benign/Likely benign rs3745674 GRCh38 Chromosome 19, 10783059: 10783059
7 DNM2 NM_001005360.2(DNM2): c.238C> T (p.His80Tyr) single nucleotide variant Benign/Likely benign rs148790687 GRCh38 Chromosome 19, 10772481: 10772481
8 DNM2 NM_001005360.2(DNM2): c.238C> T (p.His80Tyr) single nucleotide variant Benign/Likely benign rs148790687 GRCh37 Chromosome 19, 10883157: 10883157
9 DNM2 NM_001005360.2(DNM2): c.1077C> T (p.Gly359=) single nucleotide variant Benign/Likely benign rs112238216 GRCh38 Chromosome 19, 10793804: 10793804
10 DNM2 NM_001005360.2(DNM2): c.1077C> T (p.Gly359=) single nucleotide variant Benign/Likely benign rs112238216 GRCh37 Chromosome 19, 10904480: 10904480
11 MPZ NM_000530.7(MPZ): c.600G> A (p.Gly200=) single nucleotide variant Benign rs16832790 GRCh37 Chromosome 1, 161275943: 161275943
12 MPZ NM_000530.7(MPZ): c.600G> A (p.Gly200=) single nucleotide variant Benign rs16832790 GRCh38 Chromosome 1, 161306153: 161306153
13 DNM2 NM_001005360.2(DNM2): c.235+6A> G single nucleotide variant Benign/Likely benign rs113192269 GRCh37 Chromosome 19, 10870493: 10870493
14 DNM2 NM_001005360.2(DNM2): c.235+6A> G single nucleotide variant Benign/Likely benign rs113192269 GRCh38 Chromosome 19, 10759817: 10759817
15 DNM2 NM_001005360.2(DNM2): c.235+12C> A single nucleotide variant Conflicting interpretations of pathogenicity rs147026993 GRCh37 Chromosome 19, 10870499: 10870499
16 DNM2 NM_001005360.2(DNM2): c.235+12C> A single nucleotide variant Conflicting interpretations of pathogenicity rs147026993 GRCh38 Chromosome 19, 10759823: 10759823
17 DNM2 NM_001005360.2(DNM2): c.958G> A (p.Asp320Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs150613209 GRCh37 Chromosome 19, 10897348: 10897348
18 DNM2 NM_001005360.2(DNM2): c.958G> A (p.Asp320Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs150613209 GRCh38 Chromosome 19, 10786672: 10786672
19 DNM2 NM_001005360.2(DNM2): c.1902C> T (p.Asn634=) single nucleotide variant Benign/Likely benign rs2229919 GRCh37 Chromosome 19, 10935741: 10935741
20 DNM2 NM_001005360.2(DNM2): c.1902C> T (p.Asn634=) single nucleotide variant Benign/Likely benign rs2229919 GRCh38 Chromosome 19, 10825065: 10825065
21 DNM2 NM_001005360.2(DNM2): c.2139T> C (p.Ala713=) single nucleotide variant Benign/Likely benign rs2229920 GRCh37 Chromosome 19, 10939792: 10939792
22 DNM2 NM_001005360.2(DNM2): c.2139T> C (p.Ala713=) single nucleotide variant Benign/Likely benign rs2229920 GRCh38 Chromosome 19, 10829116: 10829116
23 DNM2 NM_001005360.2(DNM2): c.2543+7C> G single nucleotide variant Benign/Likely benign rs201979143 GRCh37 Chromosome 19, 10941061: 10941061
24 DNM2 NM_001005360.2(DNM2): c.2543+7C> G single nucleotide variant Benign/Likely benign rs201979143 GRCh38 Chromosome 19, 10830385: 10830385
25 DNM2 NM_001005360.2(DNM2): c.162-7C> A single nucleotide variant Benign/Likely benign rs148318860 GRCh37 Chromosome 19, 10870407: 10870407
26 DNM2 NM_001005360.2(DNM2): c.162-7C> A single nucleotide variant Benign/Likely benign rs148318860 GRCh38 Chromosome 19, 10759731: 10759731
27 YARS NM_003680.3(YARS): c.1015G> A (p.Ala339Thr) single nucleotide variant Benign/Likely benign rs141323599 GRCh37 Chromosome 1, 33248032: 33248032
28 YARS NM_003680.3(YARS): c.1015G> A (p.Ala339Thr) single nucleotide variant Benign/Likely benign rs141323599 GRCh38 Chromosome 1, 32782431: 32782431
29 KARS NM_001130089.1(KARS): c.1868C> G (p.Thr623Ser) single nucleotide variant Benign rs6834 GRCh38 Chromosome 16, 75627905: 75627905
30 KARS NM_001130089.1(KARS): c.1868C> G (p.Thr623Ser) single nucleotide variant Benign rs6834 GRCh37 Chromosome 16, 75661803: 75661803
31 KARS NM_001130089.1(KARS): c.1163-7C> T single nucleotide variant Benign/Likely benign rs16941301 GRCh38 Chromosome 16, 75631596: 75631596
32 KARS NM_001130089.1(KARS): c.1163-7C> T single nucleotide variant Benign/Likely benign rs16941301 GRCh37 Chromosome 16, 75665494: 75665494
33 KARS NM_001130089.1(KARS): c.696A> G (p.Thr232=) single nucleotide variant Conflicting interpretations of pathogenicity rs141539149 GRCh37 Chromosome 16, 75669867: 75669867
34 KARS NM_001130089.1(KARS): c.696A> G (p.Thr232=) single nucleotide variant Conflicting interpretations of pathogenicity rs141539149 GRCh38 Chromosome 16, 75635969: 75635969
35 KARS NM_001130089.1(KARS): c.358G> C (p.Glu120Gln) single nucleotide variant Uncertain significance rs11557669 GRCh37 Chromosome 16, 75674196: 75674196
36 KARS NM_001130089.1(KARS): c.358G> C (p.Glu120Gln) single nucleotide variant Uncertain significance rs11557669 GRCh38 Chromosome 16, 75640298: 75640298
37 KARS NM_001130089.1(KARS): c.254A> G (p.Asn85Ser) single nucleotide variant Benign/Likely benign rs117041419 GRCh37 Chromosome 16, 75675514: 75675514
38 KARS NM_001130089.1(KARS): c.254A> G (p.Asn85Ser) single nucleotide variant Benign/Likely benign rs117041419 GRCh38 Chromosome 16, 75641616: 75641616
39 KARS NM_001130089.1(KARS): c.159A> G (p.Arg53=) single nucleotide variant Benign/Likely benign rs5030748 GRCh37 Chromosome 16, 75675609: 75675609
40 KARS NM_001130089.1(KARS): c.159A> G (p.Arg53=) single nucleotide variant Benign/Likely benign rs5030748 GRCh38 Chromosome 16, 75641711: 75641711
41 KARS NM_001130089.1(KARS): c.-97G> T single nucleotide variant Uncertain significance rs374675852 GRCh38 Chromosome 16, 75647640: 75647640
42 KARS NM_001130089.1(KARS): c.-97G> T single nucleotide variant Uncertain significance rs374675852 GRCh37 Chromosome 16, 75681538: 75681538
43 DNM2 NM_001005360.2(DNM2): c.2160C> T (p.Asp720=) single nucleotide variant Benign/Likely benign rs117598326 GRCh38 Chromosome 19, 10829137: 10829137
44 DNM2 NM_001005360.2(DNM2): c.2160C> T (p.Asp720=) single nucleotide variant Benign/Likely benign rs117598326 GRCh37 Chromosome 19, 10939813: 10939813
45 MPZ NM_000530.6(MPZ): c.637G> C (p.Gly213Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs202176679 GRCh37 Chromosome 1, 161275906: 161275906
46 MPZ NM_000530.6(MPZ): c.637G> C (p.Gly213Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs202176679 GRCh38 Chromosome 1, 161306116: 161306116
47 GDAP1 NM_018972.2(GDAP1): c.310+6delG deletion Conflicting interpretations of pathogenicity rs780828430 GRCh37 Chromosome 8, 75263707: 75263707
48 GDAP1 NM_018972.2(GDAP1): c.310+6delG deletion Conflicting interpretations of pathogenicity rs780828430 GRCh38 Chromosome 8, 74351472: 74351472
49 DNM2 NM_001005360.2(DNM2): c.1418A> T (p.Asp473Val) single nucleotide variant Uncertain significance rs766613900 GRCh38 Chromosome 19, 10798568: 10798568
50 DNM2 NM_001005360.2(DNM2): c.1418A> T (p.Asp473Val) single nucleotide variant Uncertain significance rs766613900 GRCh37 Chromosome 19, 10909244: 10909244

Expression for Charcot-Marie-Tooth Disease Intermediate Type

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

Pathways for Charcot-Marie-Tooth Disease Intermediate Type

Pathways related to Charcot-Marie-Tooth Disease Intermediate Type according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.2 YARS YARS2
2
Show member pathways
10.86 COX6A1 GNB4

GO Terms for Charcot-Marie-Tooth Disease Intermediate Type

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

# Name GO ID Score Top Affiliating Genes
1 tRNA aminoacylation for protein translation GO:0006418 8.96 YARS YARS2
2 tyrosyl-tRNA aminoacylation GO:0006437 8.62 YARS YARS2

Molecular functions related to Charcot-Marie-Tooth Disease Intermediate Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ligase activity GO:0016874 9.26 YARS YARS2
2 tRNA binding GO:0000049 9.16 YARS YARS2
3 aminoacyl-tRNA ligase activity GO:0004812 8.96 YARS YARS2
4 tyrosine-tRNA ligase activity GO:0004831 8.62 YARS YARS2

Sources for Charcot-Marie-Tooth Disease Intermediate Type

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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
32 HMDB
33 HPO
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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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