MCID: CHR025
MIFTS: 30

Charcot-Marie-Tooth Disease Intermediate Type

Categories: Ear diseases, Eye diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Nephrological 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
Intermediate Hereditary Motor and Sensory Neuropathy 58
Charcot-Marie-Tooth Disease Recessive Intermediate 12
Charcot-Marie-Tooth Disease Dominant Intermediate 12
Intermediate Charcot-Marie-Tooth Disease 58
Charcot-Marie-Tooth, Intermediate 6
Intermediate Cmt 58

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050543
Orphanet 58 ORPHA476123

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 intermediate hereditary motor and sensory neuropathy, is related to autosomal dominant intermediate charcot-marie-tooth and charcot-marie-tooth disease, recessive intermediate a. An important gene associated with Charcot-Marie-Tooth Disease Intermediate Type is YARS1 (Tyrosyl-TRNA Synthetase 1), and among its related pathways/superpathways is tRNA Aminoacylation. Affiliated tissues include eye and liver, and related phenotypes are Decreased viability and Decreased viability

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

(show top 50) (show all 116)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant intermediate charcot-marie-tooth 32.8 SH3TC2 INF2
2 charcot-marie-tooth disease, recessive intermediate a 32.4 MFN2 GDAP1
3 charcot-marie-tooth disease, dominant intermediate d 32.2 YARS1 SH3TC2 MPZ DNM2
4 charcot-marie-tooth disease, recessive intermediate b 32.1 YARS2 YARS1 KARS1 GARS1 AARS1
5 charcot-marie-tooth disease, recessive intermediate d 31.9 LRSAM1 DNAJB2
6 charcot-marie-tooth disease, dominant intermediate a 31.9 YARS1 MPZ GJB1 GDAP1 DNM2
7 charcot-marie-tooth disease, dominant intermediate e 31.6 SH3TC2 SBF2 MTMR2 MPZ INF2 GDAP1
8 charcot-marie-tooth disease, axonal, type 2p 31.3 LRSAM1 LITAF GDAP1 DNM2 DNAJB2
9 charcot-marie-tooth disease, dominant intermediate c 31.2 YARS2 YARS1 MPZ KARS1 GJB1 GDAP1
10 charcot-marie-tooth disease, dominant intermediate b 30.7 YARS1 SH3TC2 SBF2 PLEK MTMR2 MPZ
11 axonal neuropathy 30.5 MFN2 GDAP1 GARS1
12 motor neuron disease 30.2 SH3TC2 MPZ MFN2 GARS1
13 hereditary neuropathies 29.4 MTMR2 MPZ MFN2 GJB1 DNAJB2
14 sensory peripheral neuropathy 29.3 MTMR2 MPZ MFN2 LITAF GJB1 GDAP1
15 polyneuropathy 28.9 SH3TC2 MPZ MFN2 LRSAM1 LITAF GJB1
16 charcot-marie-tooth disease, x-linked dominant, 1 28.9 SH3TC2 MTMR2 MPZ MFN2 LITAF GJB1
17 peripheral nervous system disease 28.7 SH3TC2 SBF2 MTMR2 MPZ MFN2 LITAF
18 neuropathy 28.6 SH3TC2 SBF2 MTMR2 MPZ MFN2 LITAF
19 tooth disease 27.9 YARS1 SH3TC2 SBF2 MTMR2 MPZ MFN2
20 charcot-marie-tooth disease and deafness 27.8 YARS1 SH3TC2 SBF2 MTMR2 MPZ MFN2
21 charcot-marie-tooth disease, axonal, type 2e 26.8 YARS1 SH3TC2 SBF2 MTMR2 MPZ MFN2
22 charcot-marie-tooth disease 26.6 YARS2 YARS1 SH3TC2 SBF2 PLEK MTMR2
23 autosomal recessive intermediate charcot-marie-tooth disease 11.7
24 autosomal dominant intermediate charcot-marie-tooth disease with neuropathic pain 11.4
25 charcot-marie-tooth disease, dominant intermediate f 11.4
26 charcot-marie-tooth disease, recessive intermediate c 11.4
27 charcot-marie-tooth disease, dominant intermediate g 11.4
28 focal segmental glomerulosclerosis 5 11.4
29 cutis marmorata telangiectatica congenita 10.3
30 focal segmental glomerulosclerosis 10.3
31 spinal muscular atrophy with lower extremity predominance 10.3 GDAP1 GARS1
32 pupil disease 10.3 MPZ GDAP1
33 argyll robertson pupil 10.3 MPZ GDAP1
34 abnormal pupillary function 10.3 MPZ GDAP1
35 infantile liver failure syndrome 10.3 YARS1 AARS1
36 early-onset glaucoma 10.2 SBF2 MTMR2
37 pontocerebellar hypoplasia, type 6 10.2 KARS1 AARS1
38 combined oxidative phosphorylation deficiency 20 10.2 YARS2 KARS1 GARS1
39 neuropathy, hereditary motor and sensory, russe type 10.2 SH3TC2 GDAP1
40 rigid spine muscular dystrophy 1 10.2 YARS2 YARS1 AARS1
41 robinow syndrome, autosomal recessive 1 10.2 YARS1 KARS1 AARS1
42 ataxia and polyneuropathy, adult-onset 10.2
43 proteinuria, chronic benign 10.2
44 neutropenia 10.2
45 pathologic nystagmus 10.2
46 charcot-marie-tooth hereditary neuropathy 10.2
47 chronic pain 10.2
48 hypotonia 10.2
49 cerebellar ataxia with peripheral neuropathy 10.2
50 autosomal recessive axonal hereditary motor and sensory neuropathy 10.2

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

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 9.74 GJB1
2 Decreased viability GR00055-A-2 9.74 GJB1
3 Decreased viability GR00106-A-0 9.74 KARS1
4 Decreased viability GR00249-S 9.74 GJB1 KARS1 MPZ SH3TC2
5 Decreased viability GR00381-A-1 9.74 INF2 LRSAM1 MPZ SH3TC2
6 Decreased viability GR00381-A-3 9.74 MPZ
7 Decreased viability GR00386-A-1 9.74 GNB4 INF2 KARS1 LRSAM1 MPZ
8 Decreased viability GR00402-S-2 9.74 GARS1 GJB1 GNB4 INF2 KARS1 LRSAM1

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.8 AARS1 DNAJB2 DNM2 GARS1 GDAP1 GJB1
2 nervous system MP:0003631 9.44 AARS1 DNM2 GARS1 GDAP1 GJB1 KARS1

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

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

40
Eye, Liver

Publications for Charcot-Marie-Tooth Disease Intermediate Type

Articles related to Charcot-Marie-Tooth Disease Intermediate Type:

# Title Authors PMID Year
1
Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy. 61
10406984 1999

Variations for Charcot-Marie-Tooth Disease Intermediate Type

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

6 (show all 22)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MPZ NM_000530.8(MPZ):c.*858T>C SNV Uncertain significance 293303 rs886045473 GRCh37: 1:161274808-161274808
GRCh38: 1:161305018-161305018
2 MPZ NM_000530.8(MPZ):c.515T>C (p.Leu172Pro) SNV Uncertain significance 293312 rs886045475 GRCh37: 1:161276188-161276188
GRCh38: 1:161306398-161306398
3 DNM2 NM_004945.3(DNM2):c.*312dup Duplication Uncertain significance 328006 rs886054146 GRCh37: 19:10942028-10942029
GRCh38: 19:10831352-10831353
4 GDAP1 NM_018972.4(GDAP1):c.*934_*935insTA Insertion Uncertain significance 363734 rs368736368 GRCh37: 8:75277536-75277537
GRCh38: 8:74365301-74365302
5 GDAP1 NM_001362931.2(GDAP1):c.694+4044_694+4045insAA Insertion Uncertain significance 363764 rs886063120 GRCh37: 8:75279332-75279333
GRCh38: 8:74367097-74367098
6 GDAP1 NM_001362931.2(GDAP1):c.694+4057_694+4060dup Duplication Uncertain significance 363767 rs71563287 GRCh37: 8:75279333-75279334
GRCh38: 8:74367098-74367099
7 GDAP1 NM_001362931.2(GDAP1):c.694+4059_694+4060dup Duplication Uncertain significance 363766 rs71563287 GRCh37: 8:75279333-75279334
GRCh38: 8:74367098-74367099
8 GDAP1 NM_001362931.2(GDAP1):c.694+3867dup Duplication Uncertain significance 363762 rs886063118 GRCh37: 8:75279148-75279149
GRCh38: 8:74366913-74366914
9 GDAP1 NM_001362931.2(GDAP1):c.694+4044_694+4045insAAA Insertion Uncertain significance 363765 rs886063120 GRCh37: 8:75279332-75279333
GRCh38: 8:74367097-74367098
10 YARS1 NM_003680.3(YARS1):c.414C>T (p.Ser138=) SNV Uncertain significance 297160 rs762551221 GRCh37: 1:33272179-33272179
GRCh38: 1:32806578-32806578
11 YARS1 NM_003680.3(YARS1):c.982T>C (p.Phe328Leu) SNV Uncertain significance 297153 rs1057515512 GRCh37: 1:33248065-33248065
GRCh38: 1:32782464-32782464
12 GDAP1 NM_018972.4(GDAP1):c.310+6del Deletion Uncertain significance 245606 rs780828430 GRCh37: 8:75263707-75263707
GRCh38: 8:74351472-74351472
13 YARS1 NM_003680.3(YARS1):c.*307_*308delCA Microsatellite Likely benign 297143 rs372462149 GRCh37: 1:33241274-33241275
GRCh38: 1:32775673-32775674
14 DNM2 NM_001005360.2(DNM2):c.789G>A (p.Pro263=) SNV Likely benign 287974 rs199976453 GRCh37: 19:10893736-10893736
GRCh38: 19:10783060-10783060
15 YARS1 NM_003680.3(YARS1):c.510+10G>C SNV Likely benign 284760 rs201272488 GRCh37: 1:33272073-33272073
GRCh38: 1:32806472-32806472
16 YARS1 NM_003680.3(YARS1):c.*447_*451delAAAGG Microsatellite Likely benign 297138 rs142185532 GRCh37: 1:33241131-33241135
GRCh38: 1:32775530-32775534
17 GDAP1 NM_018972.4(GDAP1):c.-51_-49del Deletion Likely benign 363718 rs201803887 GRCh37: 8:75262645-75262647
GRCh38: 8:74350410-74350412
18 GDAP1 NM_018972.4(GDAP1):c.*1489del Deletion Likely benign 363745 rs34856543 GRCh37: 8:75278091-75278091
GRCh38: 8:74365856-74365856
19 DNM2 NM_004945.3(DNM2):c.*29dup Duplication Likely benign 327996 rs575649173 GRCh37: 19:10941745-10941746
GRCh38: 19:10831069-10831070
20 MPZ NM_000530.8(MPZ):c.*901_*902GA[7] Microsatellite Benign 293302 rs149030537 GRCh37: 1:161274755-161274756
GRCh38: 1:161304965-161304966
21 MPZ , SDHC NM_003001.3(SDHC):c.-38G>A SNV Benign 368837 rs112556972 GRCh37: 1:161284158-161284158
GRCh38: 1:161314368-161314368
22 MPZ , SDHC NM_003001.3(SDHC):c.20+11_20+12dup Duplication Benign 44647 rs35215598 GRCh37: 1:161284226-161284227
GRCh38: 1:161314434-161314435

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
11.26 YARS2 YARS1 KARS1 GARS1 AARS1

GO Terms for Charcot-Marie-Tooth Disease Intermediate Type

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

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.83 YARS1 SBF2 PLEK MTMR2 LRSAM1 LITAF
2 cytosol GO:0005829 9.47 YARS2 YARS1 SBF2 PLEK MTMR2 MFN2
3 vacuolar membrane GO:0005774 9.16 SBF2 MTMR2

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

# Name GO ID Score Top Affiliating Genes
1 translation GO:0006412 9.65 YARS2 YARS1 KARS1 GARS1 AARS1
2 mitochondrial fission GO:0000266 9.43 GDAP1 DNM2
3 mitochondrial fusion GO:0008053 9.4 MFN2 GDAP1
4 negative regulation of endocytosis GO:0045806 9.37 MTMR2 LRSAM1
5 tRNA aminoacylation GO:0043039 9.32 YARS2 AARS1
6 diadenosine tetraphosphate biosynthetic process GO:0015966 9.16 KARS1 GARS1
7 tRNA aminoacylation for protein translation GO:0006418 9.02 YARS2 YARS1 KARS1 GARS1 AARS1
8 tyrosyl-tRNA aminoacylation GO:0006437 8.96 YARS2 YARS1

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

# Name GO ID Score Top Affiliating Genes
1 tRNA binding GO:0000049 9.46 YARS2 YARS1 KARS1 AARS1
2 ligase activity GO:0016874 9.35 YARS2 YARS1 KARS1 GARS1 AARS1
3 amino acid binding GO:0016597 9.32 KARS1 AARS1
4 tyrosine-tRNA ligase activity GO:0004831 9.26 YARS2 YARS1
5 aminoacyl-tRNA ligase activity GO:0004812 9.02 YARS2 YARS1 KARS1 GARS1 AARS1

Sources for Charcot-Marie-Tooth Disease Intermediate Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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