MCID: CHR025
MIFTS: 22

Charcot-Marie-Tooth Disease Intermediate Type

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

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 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
Pmp2-Related Charcot-Marie-Tooth Disease Type 1 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 23)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, dominant intermediate c 31.4 LAPTM5 YARS YARS2
2 charcot-marie-tooth disease, recessive intermediate d 30.5 COX6A1 DNAJB2 TRIM2
3 charcot-marie-tooth disease, dominant intermediate b 11.4
4 charcot-marie-tooth disease, dominant intermediate a 11.4
5 charcot-marie-tooth disease, dominant intermediate d 11.4
6 charcot-marie-tooth disease, recessive intermediate a 11.4
7 charcot-marie-tooth disease, recessive intermediate b 11.4
8 charcot-marie-tooth disease, dominant intermediate e 11.4
9 charcot-marie-tooth disease, dominant intermediate f 11.4
10 charcot-marie-tooth disease, recessive intermediate c 11.4
11 spastic paraplegia 46, autosomal recessive 9.5 COX6A1 TRIM2
12 spastic paraplegia 56, autosomal recessive 9.2 COX6A1 TRIM2
13 charcot-marie-tooth disease type 2a2 9.0 COX6A1 DNAJB2 TRIM2
14 charcot-marie-tooth disease, axonal, type 2h 9.0 COX6A1 DNAJB2 TRIM2
15 spastic paraplegia 55, autosomal recessive 8.9 COX6A1 DNAJB2 TRIM2
16 charcot-marie-tooth disease, axonal, type 2r 8.9 COX6A1 DNAJB2 TRIM2
17 charcot-marie-tooth disease, axonal, type 2b2 8.9 COX6A1 DNAJB2 TRIM2
18 charcot-marie-tooth disease, axonal, type 2p 8.9 COX6A1 DNAJB2 TRIM2
19 amyotrophic lateral sclerosis type 5 8.8 COX6A1 DNAJB2 TRIM2
20 charcot-marie-tooth disease, axonal, type 2b1 8.8 COX6A1 DNAJB2 TRIM2
21 charcot-marie-tooth disease, axonal, type 2t 8.7 COX6A1 DNAJB2 TRIM2
22 charcot-marie-tooth disease, axonal, type 2e 8.6 COX6A1 DNAJB2 TRIM2
23 charcot-marie-tooth disease 7.8 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 412)
# Gene Variation Type Significance SNP ID Assembly Location
1 DNM2 NM_001005360.2(DNM2): c.235+6A> G single nucleotide variant Benign/Likely benign rs113192269 GRCh37 Chromosome 19, 10870493: 10870493
2 DNM2 NM_001005360.2(DNM2): c.235+6A> G single nucleotide variant Benign/Likely benign rs113192269 GRCh38 Chromosome 19, 10759817: 10759817
3 DNM2 NM_001005360.2(DNM2): c.235+12C> A single nucleotide variant Conflicting interpretations of pathogenicity rs147026993 GRCh37 Chromosome 19, 10870499: 10870499
4 DNM2 NM_001005360.2(DNM2): c.235+12C> A single nucleotide variant Conflicting interpretations of pathogenicity rs147026993 GRCh38 Chromosome 19, 10759823: 10759823
5 DNM2 NM_001005360.2(DNM2): c.958G> A (p.Asp320Asn) single nucleotide variant Benign/Likely benign rs150613209 GRCh37 Chromosome 19, 10897348: 10897348
6 DNM2 NM_001005360.2(DNM2): c.958G> A (p.Asp320Asn) single nucleotide variant Benign/Likely benign rs150613209 GRCh38 Chromosome 19, 10786672: 10786672
7 DNM2 NM_001005360.2(DNM2): c.1902C> T (p.Asn634=) single nucleotide variant Benign/Likely benign rs2229919 GRCh37 Chromosome 19, 10935741: 10935741
8 DNM2 NM_001005360.2(DNM2): c.1902C> T (p.Asn634=) single nucleotide variant Benign/Likely benign rs2229919 GRCh38 Chromosome 19, 10825065: 10825065
9 DNM2 NM_001005360.2(DNM2): c.2139T> C (p.Ala713=) single nucleotide variant Benign/Likely benign rs2229920 GRCh37 Chromosome 19, 10939792: 10939792
10 DNM2 NM_001005360.2(DNM2): c.2139T> C (p.Ala713=) single nucleotide variant Benign/Likely benign rs2229920 GRCh38 Chromosome 19, 10829116: 10829116
11 DNM2 NM_001005360.2(DNM2): c.2543+7C> G single nucleotide variant Benign/Likely benign rs201979143 GRCh37 Chromosome 19, 10941061: 10941061
12 DNM2 NM_001005360.2(DNM2): c.2543+7C> G single nucleotide variant Benign/Likely benign rs201979143 GRCh38 Chromosome 19, 10830385: 10830385
13 DNM2 NM_001005360.2(DNM2): c.162-7C> A single nucleotide variant Benign/Likely benign rs148318860 GRCh37 Chromosome 19, 10870407: 10870407
14 DNM2 NM_001005360.2(DNM2): c.162-7C> A single nucleotide variant Benign/Likely benign rs148318860 GRCh38 Chromosome 19, 10759731: 10759731
15 YARS NM_003680.3(YARS): c.1015G> A (p.Ala339Thr) single nucleotide variant Benign/Likely benign rs141323599 GRCh37 Chromosome 1, 33248032: 33248032
16 YARS NM_003680.3(YARS): c.1015G> A (p.Ala339Thr) single nucleotide variant Benign/Likely benign rs141323599 GRCh38 Chromosome 1, 32782431: 32782431
17 KARS NM_001130089.1(KARS): c.1868C> G (p.Thr623Ser) single nucleotide variant Benign rs6834 GRCh38 Chromosome 16, 75627905: 75627905
18 KARS NM_001130089.1(KARS): c.1868C> G (p.Thr623Ser) single nucleotide variant Benign rs6834 GRCh37 Chromosome 16, 75661803: 75661803
19 KARS NM_001130089.1(KARS): c.1163-7C> T single nucleotide variant Benign/Likely benign rs16941301 GRCh38 Chromosome 16, 75631596: 75631596
20 KARS NM_001130089.1(KARS): c.1163-7C> T single nucleotide variant Benign/Likely benign rs16941301 GRCh37 Chromosome 16, 75665494: 75665494
21 KARS NM_001130089.1(KARS): c.696A> G (p.Thr232=) single nucleotide variant Conflicting interpretations of pathogenicity rs141539149 GRCh37 Chromosome 16, 75669867: 75669867
22 KARS NM_001130089.1(KARS): c.696A> G (p.Thr232=) single nucleotide variant Conflicting interpretations of pathogenicity rs141539149 GRCh38 Chromosome 16, 75635969: 75635969
23 KARS NM_001130089.1(KARS): c.358G> C (p.Glu120Gln) single nucleotide variant Uncertain significance rs11557669 GRCh37 Chromosome 16, 75674196: 75674196
24 KARS NM_001130089.1(KARS): c.358G> C (p.Glu120Gln) single nucleotide variant Uncertain significance rs11557669 GRCh38 Chromosome 16, 75640298: 75640298
25 KARS NM_001130089.1(KARS): c.254A> G (p.Asn85Ser) single nucleotide variant Benign/Likely benign rs117041419 GRCh37 Chromosome 16, 75675514: 75675514
26 KARS NM_001130089.1(KARS): c.254A> G (p.Asn85Ser) single nucleotide variant Benign/Likely benign rs117041419 GRCh38 Chromosome 16, 75641616: 75641616
27 KARS NM_001130089.1(KARS): c.159A> G (p.Arg53=) single nucleotide variant Benign/Likely benign rs5030748 GRCh37 Chromosome 16, 75675609: 75675609
28 KARS NM_001130089.1(KARS): c.159A> G (p.Arg53=) single nucleotide variant Benign/Likely benign rs5030748 GRCh38 Chromosome 16, 75641711: 75641711
29 KARS NM_001130089.1(KARS): c.-97G> T single nucleotide variant Uncertain significance rs374675852 GRCh38 Chromosome 16, 75647640: 75647640
30 KARS NM_001130089.1(KARS): c.-97G> T single nucleotide variant Uncertain significance rs374675852 GRCh37 Chromosome 16, 75681538: 75681538
31 DNM2 NM_001005360.2(DNM2): c.2160C> T (p.Asp720=) single nucleotide variant Benign/Likely benign rs117598326 GRCh38 Chromosome 19, 10829137: 10829137
32 DNM2 NM_001005360.2(DNM2): c.2160C> T (p.Asp720=) single nucleotide variant Benign/Likely benign rs117598326 GRCh37 Chromosome 19, 10939813: 10939813
33 MPZ NM_000530.7(MPZ): c.637G> C (p.Gly213Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs202176679 GRCh37 Chromosome 1, 161275906: 161275906
34 MPZ NM_000530.7(MPZ): c.637G> C (p.Gly213Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs202176679 GRCh38 Chromosome 1, 161306116: 161306116
35 GDAP1 NM_018972.2(GDAP1): c.310+6delG deletion Conflicting interpretations of pathogenicity rs780828430 GRCh37 Chromosome 8, 75263707: 75263707
36 GDAP1 NM_018972.2(GDAP1): c.310+6delG deletion Conflicting interpretations of pathogenicity rs780828430 GRCh38 Chromosome 8, 74351472: 74351472
37 DNM2 NM_001005360.2(DNM2): c.1418A> T (p.Asp473Val) single nucleotide variant Uncertain significance rs766613900 GRCh38 Chromosome 19, 10798568: 10798568
38 DNM2 NM_001005360.2(DNM2): c.1418A> T (p.Asp473Val) single nucleotide variant Uncertain significance rs766613900 GRCh37 Chromosome 19, 10909244: 10909244
39 GDAP1 NM_018972.2(GDAP1): c.507T> G (p.Ser169=) single nucleotide variant Benign rs11554166 GRCh38 Chromosome 8, 74361906: 74361906
40 GDAP1 NM_018972.2(GDAP1): c.507T> G (p.Ser169=) single nucleotide variant Benign rs11554166 GRCh37 Chromosome 8, 75274141: 75274141
41 DNM2 NM_001005360.2(DNM2): c.236-8C> G single nucleotide variant Benign/Likely benign rs143084059 GRCh37 Chromosome 19, 10883147: 10883147
42 DNM2 NM_001005360.2(DNM2): c.236-8C> G single nucleotide variant Benign/Likely benign rs143084059 GRCh38 Chromosome 19, 10772471: 10772471
43 DNM2 NM_001005360.2(DNM2): c.519T> C (p.Ala173=) single nucleotide variant Benign/Likely benign rs77702567 GRCh38 Chromosome 19, 10775836: 10775836
44 DNM2 NM_001005360.2(DNM2): c.519T> C (p.Ala173=) single nucleotide variant Benign/Likely benign rs77702567 GRCh37 Chromosome 19, 10886512: 10886512
45 DNM2 NM_001005360.2(DNM2): c.882G> A (p.Pro294=) single nucleotide variant Likely benign rs144790170 GRCh37 Chromosome 19, 10897272: 10897272
46 DNM2 NM_001005360.2(DNM2): c.882G> A (p.Pro294=) single nucleotide variant Likely benign rs144790170 GRCh38 Chromosome 19, 10786596: 10786596
47 YARS NM_003680.3(YARS): c.510+10G> C single nucleotide variant Conflicting interpretations of pathogenicity rs201272488 GRCh37 Chromosome 1, 33272073: 33272073
48 YARS NM_003680.3(YARS): c.510+10G> C single nucleotide variant Conflicting interpretations of pathogenicity rs201272488 GRCh38 Chromosome 1, 32806472: 32806472
49 DNM2 NM_001005360.2(DNM2): c.789G> A (p.Pro263=) single nucleotide variant Likely benign rs199976453 GRCh38 Chromosome 19, 10783060: 10783060
50 DNM2 NM_001005360.2(DNM2): c.789G> A (p.Pro263=) single nucleotide variant Likely benign rs199976453 GRCh37 Chromosome 19, 10893736: 10893736

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

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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9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
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31 HMDB
32 HPO
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34 ICD10 via Orphanet
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62 PubMed
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69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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