CMTDIC
MCID: CHR371
MIFTS: 30

Charcot-Marie-Tooth Disease, Dominant Intermediate C (CMTDIC)

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

Aliases & Classifications for Charcot-Marie-Tooth Disease, Dominant Intermediate C

MalaCards integrated aliases for Charcot-Marie-Tooth Disease, Dominant Intermediate C:

Name: Charcot-Marie-Tooth Disease, Dominant Intermediate C 58 54 30 13 6 74
Cmtdic 58 12 54 60 76
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type C 12 54 60
Di-Cmtc 58 12 54
Charcot-Marie-Tooth Disease Dominant Intermediate C 12 15
Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, C 76
Charcot-Marie-Tooth Disease, Dominant Intermediate, Type C 41
Yars-Related Intermediate Charcot-Marie-Tooth Neuropathy 54
Charcot-Marie-Tooth Neuropathy, Dominant Intermediate C 58
Charcot-Marie-Tooth Neuropathy Dominant Intermediate C 12

Characteristics:

Orphanet epidemiological data:

60

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
begins in feet and legs (peroneal distribution)
features intermediate between demyelinating cmt and axonal cmt
variable age of onset (7-59 years)
genetic heterogeneity (see cmtdia )


HPO:

33
charcot-marie-tooth disease, dominant intermediate c:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110199
OMIM 58 608323
MeSH 45 D002607
ICD10 34 G60.0
ICD10 via Orphanet 35 G60.0
UMLS via Orphanet 75 C1842237
Orphanet 60 ORPHA100045
MedGen 43 C1842237
UMLS 74 C1842237

Summaries for Charcot-Marie-Tooth Disease, Dominant Intermediate C

UniProtKB/Swiss-Prot : 76 Charcot-Marie-Tooth disease, dominant, intermediate type, C: A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. The dominant intermediate type C is characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec.

MalaCards based summary : Charcot-Marie-Tooth Disease, Dominant Intermediate C, also known as cmtdic, is related to charcot-marie-tooth disease intermediate type and charcot-marie-tooth disease, dominant intermediate a. An important gene associated with Charcot-Marie-Tooth Disease, Dominant Intermediate C is YARS (Tyrosyl-TRNA Synthetase), and among its related pathways/superpathways is tRNA Aminoacylation. Related phenotypes are abnormality of the foot and upper limb muscle weakness

Disease Ontology : 12 A Charcot-Marie-Tooth disease intermediate type that has material basis in heterozygous mutation in the YARS gene on chromosome 1p35.

Description from OMIM: 608323

Related Diseases for Charcot-Marie-Tooth Disease, Dominant Intermediate C

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, Dominant Intermediate C via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease intermediate type 9.8 YARS YARS2
2 charcot-marie-tooth disease, dominant intermediate a 9.7 DNM2 PLEK
3 charcot-marie-tooth disease, dominant intermediate b 9.6 DNM2 PLEK

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease, Dominant Intermediate C

Human phenotypes related to Charcot-Marie-Tooth Disease, Dominant Intermediate C:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 abnormality of the foot 33 HP:0001760
2 upper limb muscle weakness 33 HP:0003484
3 distal muscle weakness 33 HP:0002460
4 distal amyotrophy 33 HP:0003693
5 distal sensory impairment 33 HP:0002936
6 axonal regeneration 33 HP:0003450

Symptoms via clinical synopsis from OMIM:

58
Neurologic Peripheral Nervous System:
distal sensory impairment
distal limb muscle weakness due to peripheral neuropathy
distal limb muscle atrophy due to peripheral neuropathy
upper limb involvement may occur later
axonal regeneration on nerve biopsy
more
Skeletal Feet:
foot deformities may occur

Clinical features from OMIM:

608323

Drugs & Therapeutics for Charcot-Marie-Tooth Disease, Dominant Intermediate C

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

Genetic Tests for Charcot-Marie-Tooth Disease, Dominant Intermediate C

Genetic tests related to Charcot-Marie-Tooth Disease, Dominant Intermediate C:

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease, Dominant Intermediate C 30 YARS

Anatomical Context for Charcot-Marie-Tooth Disease, Dominant Intermediate C

Publications for Charcot-Marie-Tooth Disease, Dominant Intermediate C

Articles related to Charcot-Marie-Tooth Disease, Dominant Intermediate C:

# Title Authors Year
1
Rare variants in methionyl- and tyrosyl-tRNA synthetase genes in late-onset autosomal dominant Charcot-Marie-Tooth neuropathy. ( 24354524 )
2014
2
Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy. ( 16429158 )
2006
3
Dominant intermediate Charcot-Marie-Tooth type C maps to chromosome 1p34-p35. ( 14606043 )
2003

Variations for Charcot-Marie-Tooth Disease, Dominant Intermediate C

UniProtKB/Swiss-Prot genetic disease variations for Charcot-Marie-Tooth Disease, Dominant Intermediate C:

76
# Symbol AA change Variation ID SNP ID
1 YARS p.Gly41Arg VAR_026681 rs121908833
2 YARS p.Glu196Lys VAR_026684 rs121908834

ClinVar genetic disease variations for Charcot-Marie-Tooth Disease, Dominant Intermediate C:

6 (show top 50) (show all 103)
# Gene Variation Type Significance SNP ID Assembly Location
1 YARS NM_003680.3(YARS): c.121G> A (p.Gly41Arg) single nucleotide variant Pathogenic rs121908833 GRCh37 Chromosome 1, 33276595: 33276595
2 YARS NM_003680.3(YARS): c.121G> A (p.Gly41Arg) single nucleotide variant Pathogenic rs121908833 GRCh38 Chromosome 1, 32810994: 32810994
3 YARS NM_003680.3(YARS): c.586G> A (p.Glu196Lys) single nucleotide variant Pathogenic rs121908834 GRCh37 Chromosome 1, 33263369: 33263369
4 YARS NM_003680.3(YARS): c.586G> A (p.Glu196Lys) single nucleotide variant Pathogenic rs121908834 GRCh38 Chromosome 1, 32797768: 32797768
5 YARS NM_003680.3(YARS): c.458_469delTAAAGCAGGTGG (p.Val153_Val156del) deletion Pathogenic rs786200893 GRCh37 Chromosome 1, 33272124: 33272135
6 YARS NM_003680.3(YARS): c.458_469delTAAAGCAGGTGG (p.Val153_Val156del) deletion Pathogenic rs786200893 GRCh38 Chromosome 1, 32806523: 32806534
7 YARS NM_003680.3(YARS): c.241_242delGAinsAT (p.Asp81Ile) indel Pathogenic rs786204003 GRCh37 Chromosome 1, 33276330: 33276331
8 YARS NM_003680.3(YARS): c.241_242delGAinsAT (p.Asp81Ile) indel Pathogenic rs786204003 GRCh38 Chromosome 1, 32810729: 32810730
9 YARS NM_003680.3(YARS): c.1180G> A (p.Val394Met) single nucleotide variant Uncertain significance rs863224717 GRCh38 Chromosome 1, 32780239: 32780239
10 YARS NM_003680.3(YARS): c.1180G> A (p.Val394Met) single nucleotide variant Uncertain significance rs863224717 GRCh37 Chromosome 1, 33245840: 33245840
11 YARS NM_003680.3(YARS): c.1015G> A (p.Ala339Thr) single nucleotide variant Benign/Likely benign rs141323599 GRCh37 Chromosome 1, 33248032: 33248032
12 YARS NM_003680.3(YARS): c.1015G> A (p.Ala339Thr) single nucleotide variant Benign/Likely benign rs141323599 GRCh38 Chromosome 1, 32782431: 32782431
13 YARS NM_003680.3(YARS): c.546A> G (p.Gln182=) single nucleotide variant Uncertain significance rs751440666 GRCh38 Chromosome 1, 32797808: 32797808
14 YARS NM_003680.3(YARS): c.546A> G (p.Gln182=) single nucleotide variant Uncertain significance rs751440666 GRCh37 Chromosome 1, 33263409: 33263409
15 YARS NM_003680.3(YARS): c.1571G> C (p.Gly524Ala) single nucleotide variant Uncertain significance rs201687117 GRCh37 Chromosome 1, 33241598: 33241598
16 YARS NM_003680.3(YARS): c.1571G> C (p.Gly524Ala) single nucleotide variant Uncertain significance rs201687117 GRCh38 Chromosome 1, 32775997: 32775997
17 YARS NM_003680.3(YARS): c.1179C> T (p.Asp393=) single nucleotide variant Likely benign rs373909518 GRCh38 Chromosome 1, 32780240: 32780240
18 YARS NM_003680.3(YARS): c.1179C> T (p.Asp393=) single nucleotide variant Likely benign rs373909518 GRCh37 Chromosome 1, 33245841: 33245841
19 YARS NM_003680.3(YARS): c.63T> C (p.Val21=) single nucleotide variant Likely benign rs138749370 GRCh37 Chromosome 1, 33276653: 33276653
20 YARS NM_003680.3(YARS): c.63T> C (p.Val21=) single nucleotide variant Likely benign rs138749370 GRCh38 Chromosome 1, 32811052: 32811052
21 YARS NM_003680.3(YARS): c.586G> C (p.Glu196Gln) single nucleotide variant Likely pathogenic rs121908834 GRCh37 Chromosome 1, 33263369: 33263369
22 YARS NM_003680.3(YARS): c.586G> C (p.Glu196Gln) single nucleotide variant Likely pathogenic rs121908834 GRCh38 Chromosome 1, 32797768: 32797768
23 YARS NM_003680.3(YARS): c.510+10G> C single nucleotide variant Conflicting interpretations of pathogenicity rs201272488 GRCh37 Chromosome 1, 33272073: 33272073
24 YARS NM_003680.3(YARS): c.510+10G> C single nucleotide variant Conflicting interpretations of pathogenicity rs201272488 GRCh38 Chromosome 1, 32806472: 32806472
25 YARS NM_003680.3(YARS): c.52C> T (p.Leu18=) single nucleotide variant Benign rs147538442 GRCh37 Chromosome 1, 33282794: 33282794
26 YARS NM_003680.3(YARS): c.52C> T (p.Leu18=) single nucleotide variant Benign rs147538442 GRCh38 Chromosome 1, 32817193: 32817193
27 YARS NM_003680.3(YARS): c.1218G> C (p.Leu406=) single nucleotide variant Benign rs699005 GRCh37 Chromosome 1, 33245802: 33245802
28 YARS NM_003680.3(YARS): c.1218G> C (p.Leu406=) single nucleotide variant Benign rs699005 GRCh38 Chromosome 1, 32780201: 32780201
29 YARS NM_003680.3(YARS): c.1374G> A (p.Pro458=) single nucleotide variant Benign/Likely benign rs151227410 GRCh37 Chromosome 1, 33245085: 33245085
30 YARS NM_003680.3(YARS): c.1374G> A (p.Pro458=) single nucleotide variant Benign/Likely benign rs151227410 GRCh38 Chromosome 1, 32779484: 32779484
31 YARS NM_003680.3(YARS): c.1141-9C> G single nucleotide variant Conflicting interpretations of pathogenicity rs761211081 GRCh37 Chromosome 1, 33245888: 33245888
32 YARS NM_003680.3(YARS): c.1141-9C> G single nucleotide variant Conflicting interpretations of pathogenicity rs761211081 GRCh38 Chromosome 1, 32780287: 32780287
33 YARS NM_003680.3(YARS): c.60G> A (p.Glu20=) single nucleotide variant Benign/Likely benign rs143712443 GRCh38 Chromosome 1, 32811055: 32811055
34 YARS NM_003680.3(YARS): c.60G> A (p.Glu20=) single nucleotide variant Benign/Likely benign rs143712443 GRCh37 Chromosome 1, 33276656: 33276656
35 YARS NC_000001.11: g.(?_32810591)_(32811057_?)del deletion Uncertain significance GRCh37 Chromosome 1, 33276192: 33276658
36 YARS NC_000001.11: g.(?_32810591)_(32811057_?)del deletion Uncertain significance GRCh38 Chromosome 1, 32810591: 32811057
37 YARS NM_003680.3(YARS): c.1228G> A (p.Val410Met) single nucleotide variant Likely benign rs146393022 GRCh37 Chromosome 1, 33245792: 33245792
38 YARS NM_003680.3(YARS): c.1228G> A (p.Val410Met) single nucleotide variant Likely benign rs146393022 GRCh38 Chromosome 1, 32780191: 32780191
39 YARS NM_003680.3(YARS): c.1291A> T (p.Met431Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs149620809 GRCh37 Chromosome 1, 33245729: 33245729
40 YARS NM_003680.3(YARS): c.1291A> T (p.Met431Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs149620809 GRCh38 Chromosome 1, 32780128: 32780128
41 YARS NM_003680.3(YARS): c.1138A> C (p.Lys380Gln) single nucleotide variant Uncertain significance rs1405248711 GRCh37 Chromosome 1, 33246651: 33246651
42 YARS NM_003680.3(YARS): c.1138A> C (p.Lys380Gln) single nucleotide variant Uncertain significance rs1405248711 GRCh38 Chromosome 1, 32781050: 32781050
43 YARS NM_003680.3(YARS): c.739_740delAAinsGC (p.Lys247Ala) indel Uncertain significance rs1553123307 GRCh37 Chromosome 1, 33252621: 33252622
44 YARS NM_003680.3(YARS): c.739_740delAAinsGC (p.Lys247Ala) indel Uncertain significance rs1553123307 GRCh38 Chromosome 1, 32787020: 32787021
45 YARS NM_003680.3(YARS): c.483G> C (p.Leu161=) single nucleotide variant Conflicting interpretations of pathogenicity rs780528629 GRCh37 Chromosome 1, 33272110: 33272110
46 YARS NM_003680.3(YARS): c.483G> C (p.Leu161=) single nucleotide variant Conflicting interpretations of pathogenicity rs780528629 GRCh38 Chromosome 1, 32806509: 32806509
47 YARS NM_003680.3(YARS): c.1082A> T (p.Glu361Val) single nucleotide variant Benign rs61737106 GRCh37 Chromosome 1, 33246707: 33246707
48 YARS NM_003680.3(YARS): c.1082A> T (p.Glu361Val) single nucleotide variant Benign rs61737106 GRCh38 Chromosome 1, 32781106: 32781106
49 YARS NM_003680.3(YARS): c.211A> G (p.Ile71Val) single nucleotide variant Uncertain significance rs145768628 GRCh37 Chromosome 1, 33276361: 33276361
50 YARS NM_003680.3(YARS): c.211A> G (p.Ile71Val) single nucleotide variant Uncertain significance rs145768628 GRCh38 Chromosome 1, 32810760: 32810760

Expression for Charcot-Marie-Tooth Disease, Dominant Intermediate C

Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease, Dominant Intermediate C.

Pathways for Charcot-Marie-Tooth Disease, Dominant Intermediate C

Pathways related to Charcot-Marie-Tooth Disease, Dominant Intermediate C according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.87 YARS YARS2

GO Terms for Charcot-Marie-Tooth Disease, Dominant Intermediate C

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

# Name GO ID Score Top Affiliating Genes
1 ruffle membrane GO:0032587 8.62 DNM2 PLEK

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

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.43 DNM2 YARS YARS2
2 ligase activity GO:0016874 9.32 YARS YARS2
3 tRNA binding GO:0000049 9.16 YARS YARS2
4 aminoacyl-tRNA ligase activity GO:0004812 8.96 YARS YARS2
5 tyrosine-tRNA ligase activity GO:0004831 8.62 YARS YARS2

Sources for Charcot-Marie-Tooth Disease, Dominant Intermediate C

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17 EFO
18 ExPASy
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31 HGMD
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35 ICD10 via Orphanet
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63 PubMed
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70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
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75 UMLS via Orphanet
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