MCID: CHR371
MIFTS: 29

Charcot-Marie-Tooth Disease, Dominant Intermediate C

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases, Muscle 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 57 53 29 13 6 73
Cmtdic 57 12 53 59 75
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type C 12 53 59
Di-Cmtc 57 12 53
Charcot-Marie-Tooth Disease Dominant Intermediate C 12 15
Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, C 75
Charcot-Marie-Tooth Disease, Dominant Intermediate, Type C 40
Yars-Related Intermediate Charcot-Marie-Tooth Neuropathy 53
Charcot-Marie-Tooth Neuropathy, Dominant Intermediate C 57
Charcot-Marie-Tooth Neuropathy Dominant Intermediate C 12

Characteristics:

Orphanet epidemiological data:

59

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
charcot-marie-tooth disease, dominant intermediate c:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 608323
Disease Ontology 12 DOID:0110199
ICD10 33 G60.0
Orphanet 59 ORPHA100045
UMLS via Orphanet 74 C1842237
ICD10 via Orphanet 34 G60.0
MedGen 42 C1842237
MeSH 44 D002607
UMLS 73 C1842237

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

UniProtKB/Swiss-Prot : 75 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 distal 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 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, 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 9.3 LAPTM5 YARS YARS2
2 charcot-marie-tooth disease, dominant intermediate a 9.2 DNM2 PLEK
3 charcot-marie-tooth disease, dominant intermediate b 9.0 DNM2 PLEK

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

Symptoms via clinical synopsis from OMIM:

57
Skeletal Feet:
foot deformities may occur

Neurologic Peripheral Nervous System:
distal limb muscle weakness due to peripheral neuropathy
distal limb muscle atrophy due to peripheral neuropathy
upper limb involvement may occur later
distal sensory impairment
low to normal range of nerve conduction velocity (ncv) (30-40 m/s)
more

Clinical features from OMIM:

608323

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

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 abnormality of the foot 32 HP:0001760
2 distal muscle weakness 32 HP:0002460
3 distal sensory impairment 32 HP:0002936
4 axonal regeneration 32 HP:0003450
5 upper limb muscle weakness 32 HP:0003484
6 distal amyotrophy 32 HP:0003693

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 29 YARS

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

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

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

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

75
# 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 80)
# 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 GRCh38 Chromosome 1, 32781050: 32781050
42 YARS NM_003680.3(YARS): c.1138A> C (p.Lys380Gln) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 33246651: 33246651
43 YARS NM_003680.3(YARS): c.739_740delAAinsGC (p.Lys247Ala) indel Uncertain significance GRCh37 Chromosome 1, 33252621: 33252622
44 YARS NM_003680.3(YARS): c.739_740delAAinsGC (p.Lys247Ala) indel Uncertain significance GRCh38 Chromosome 1, 32787020: 32787021
45 YARS NM_003680.3(YARS): c.483G> C (p.Leu161=) single nucleotide variant Likely benign rs780528629 GRCh37 Chromosome 1, 33272110: 33272110
46 YARS NM_003680.3(YARS): c.483G> C (p.Leu161=) single nucleotide variant Likely benign 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 ExPASy
19 FMA
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30 HGMD
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58 OMIM via Orphanet
62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
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74 UMLS via Orphanet
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