CMTDIC
MCID: CHR371
MIFTS: 43

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

Categories: Ear diseases, Eye diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Nephrological 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 57 20 29 13 6 70
Cmtdic 57 12 20 58 72
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type C 12 20 58
Di-Cmtc 57 12 20
Charcot-Marie-Tooth Disease Dominant Intermediate C 12 15
Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, C 72
Charcot-Marie-Tooth Disease, Dominant Intermediate, Type C 39
Yars-Related Intermediate Charcot-Marie-Tooth Neuropathy 20
Charcot-Marie-Tooth Neuropathy, Dominant Intermediate C 57
Charcot-Marie-Tooth Neuropathy Dominant Intermediate C 12

Characteristics:

Orphanet epidemiological data:

58

OMIM®:

57 (Updated 20-May-2021)
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:

31
charcot-marie-tooth disease, dominant intermediate c:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110199
OMIM® 57 608323
OMIM Phenotypic Series 57 PS118220
MeSH 44 D002607
ICD10 32 G60.0
ICD10 via Orphanet 33 G60.0
UMLS via Orphanet 71 C1842237
Orphanet 58 ORPHA100045
MedGen 41 C1842237
UMLS 70 C1842237

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

UniProtKB/Swiss-Prot : 72 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 usher syndrome, type iiib and deafness, autosomal recessive 89. An important gene associated with Charcot-Marie-Tooth Disease, Dominant Intermediate C is YARS1 (Tyrosyl-TRNA Synthetase 1), and among its related pathways/superpathways are Gene Expression and tRNA Aminoacylation. Affiliated tissues include eye and liver, and related phenotypes are distal muscle weakness and distal sensory impairment

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

More information from OMIM: 608323 PS118220

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

(show top 50) (show all 80)
# Related Disease Score Top Affiliating Genes
1 usher syndrome, type iiib 10.2 YARS1 EPRS1
2 deafness, autosomal recessive 89 10.2 KARS1 EPRS1
3 spinal muscular atrophy with lower extremity predominance 10.2 GDAP1 GARS1
4 antisynthetase syndrome 10.1 KARS1 EPRS1
5 infantile liver failure syndrome 10.1 YARS1 EPRS1 AARS1
6 rigid spine muscular dystrophy 1 10.1 YARS2 YARS1 AARS1
7 pupil disease 10.1 MPZ GDAP1
8 argyll robertson pupil 10.1 MPZ GDAP1
9 abnormal pupillary function 10.1 MPZ GDAP1
10 charcot-marie-tooth disease, dominant intermediate e 10.1 MPZ GDAP1
11 charcot-marie-tooth disease, axonal, type 2j 10.1 MPZ GDAP1
12 combined oxidative phosphorylation deficiency 20 10.1 YARS2 KARS1 GARS1
13 neuropathy, hereditary sensory, type id 10.1 SPTLC1 DNM2
14 charcot-marie-tooth disease, axonal, type 2p 10.0 GDAP1 DNM2
15 charcot-marie-tooth disease, dominant intermediate d 10.0 YARS1 MPZ DNM2
16 charcot-marie-tooth disease, type 4b3 10.0 MPZ GDAP1
17 charcot-marie-tooth disease, demyelinating, type 4f 10.0 MPZ GDAP1
18 robinow syndrome 10.0 MARS1 KARS1 EPRS1
19 charcot-marie-tooth disease, type 4h 10.0 MPZ GDAP1
20 charcot-marie-tooth disease, axonal, type 2a1 10.0 MPZ GDAP1 AARS1
21 developmental and epileptic encephalopathy 29 9.9 YARS1 KARS1 GARS1 AARS1
22 charcot-marie-tooth disease, type 4j 9.9 MPZ GDAP1
23 charcot-marie-tooth disease, type 4b1 9.9 MPZ GDAP1 DNM2
24 mitochondrial dna depletion syndrome 4a 9.9 YARS2 DARS2 AARS1
25 46 xx gonadal dysgenesis 9.9 EPRS1 DARS2
26 pontocerebellar hypoplasia, type 6 9.9 KARS1 DARS2 AARS1
27 slowed nerve conduction velocity, autosomal dominant 9.9 MPZ GJB1
28 charcot-marie-tooth disease, x-linked recessive, 2 9.9 MPZ GJB1
29 autoimmune peripheral neuropathy 9.9 MPZ GJB1
30 hereditary neuropathies 9.8 MPZ GJB1
31 charcot-marie-tooth disease, dominant intermediate b 9.8 YARS1 MPZ GDAP1 DNM2
32 brachial plexus neuropathy 9.8 MPZ GJB1
33 charcot-marie-tooth disease, recessive intermediate b 9.8 YARS2 YARS1 KARS1 GARS1 AARS1
34 combined oxidative phosphorylation deficiency 12 9.8 YARS2 EPRS1 DARS2 AARS1
35 clubfoot 9.8 GDAP1 DARS2 AARS1
36 distal hereditary motor neuronopathy type 2 9.8 MPZ GARS1
37 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 9.8 YARS2 GARS1 EPRS1 DARS2
38 charcot-marie-tooth disease x-linked recessive 4 9.7 MPZ GJB1
39 motor neuron disease 9.7 MPZ MARS1 GARS1 EPRS1
40 charcot-marie-tooth disease, axonal, type 2l 9.7 SPTLC1 MPZ GDAP1 GARS1
41 charcot-marie-tooth disease, axonal, type 2w 9.7 MPZ GJB1 GDAP1
42 charcot-marie-tooth disease, demyelinating, type 1f 9.7 MPZ GJB1 GDAP1
43 robinow syndrome, autosomal recessive 1 9.7 YARS1 MARS1 KARS1 EPRS1 AARS1
44 charcot-marie-tooth disease, type 4d 9.7 MPZ GJB1 GDAP1
45 charcot-marie-tooth disease, type 4c 9.7 MPZ GJB1 GDAP1
46 autosomal dominant distal hereditary motor neuronopathy 9.7 YARS2 YARS1 KARS1 GARS1 EPRS1 AARS1
47 charcot-marie-tooth disease, axonal, type 2b2 9.6 MPZ GDAP1 GARS1 DNM2 AARS1
48 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 9.6 MPZ GJB1
49 polyneuropathy 9.6 MPZ GJB1 GDAP1
50 charcot-marie-tooth disease, demyelinating, type 1d 9.5 MPZ GJB1 GDAP1 GARS1

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



Diseases related to Charcot-Marie-Tooth Disease, Dominant Intermediate C

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

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

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 distal muscle weakness 31 HP:0002460
2 distal sensory impairment 31 HP:0002936
3 distal amyotrophy 31 HP:0003693
4 upper limb muscle weakness 31 HP:0003484
5 abnormal foot morphology 31 HP:0001760
6 axonal regeneration 31 HP:0003450

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Charcot-Marie-Tooth Disease, Dominant Intermediate C:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.32 AARS1 DARS2 DNM2 EPRS1 GARS1 GJB1

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 YARS1

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

MalaCards organs/tissues related to Charcot-Marie-Tooth Disease, Dominant Intermediate C:

40
Eye, Liver

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

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

(show all 13)
# Title Authors PMID Year
1
Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy. 61 6 57
16429158 2006
2
Dominant intermediate Charcot-Marie-Tooth type C maps to chromosome 1p34-p35. 61 6 57
14606043 2003
3
Rare variants in methionyl- and tyrosyl-tRNA synthetase genes in late-onset autosomal dominant Charcot-Marie-Tooth neuropathy. 6 57
24354524 2014
4
Dominant mutations in the tyrosyl-tRNA synthetase gene recapitulate in Drosophila features of human Charcot-Marie-Tooth neuropathy. 6 61
19561293 2009
5
An extended set of yeast-based functional assays accurately identifies human disease mutations. 6
26975778 2016
6
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. 6
26257172 2015
7
Impaired protein translation in Drosophila models for Charcot-Marie-Tooth neuropathy caused by mutant tRNA synthetases. 6
26138142 2015
8
Longitudinal 16-year study of dominant intermediate CMT type C neuropathy. 61
31587308 2020
9
Anatomical distributional defects in mutant genes associated with dominant intermediate Charcot-Marie-Tooth disease type C in an adenovirus-mediated mouse model. 61
28469666 2017
10
Clinical, neurophysiological and morphological study of dominant intermediate Charcot-Marie-Tooth type C neuropathy. 61
26725087 2016
11
Drosophila as a platform to predict the pathogenicity of novel aminoacyl-tRNA synthetase mutations in CMT. 61
21384131 2012
12
Dominant Intermediate Charcot-Marie-Tooth disorder is not due to a catalytic defect in tyrosyl-tRNA synthetase. 61
21732632 2011
13
Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease. 61
15731758 2005

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

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

6 (show top 50) (show all 182)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 YARS1 NM_003680.3(YARS1):c.458_469del (p.Val153_Val156del) Deletion Pathogenic 6190 rs786200893 GRCh37: 1:33272124-33272135
GRCh38: 1:32806523-32806534
2 YARS1 NM_003680.3(YARS1):c.241_242delinsAT (p.Asp81Ile) Indel Pathogenic 187863 rs786204003 GRCh37: 1:33276330-33276331
GRCh38: 1:32810729-32810730
3 YARS1 NM_003680.3(YARS1):c.121G>A (p.Gly41Arg) SNV Pathogenic 6188 rs121908833 GRCh37: 1:33276595-33276595
GRCh38: 1:32810994-32810994
4 YARS1 NM_003680.3(YARS1):c.586G>A (p.Glu196Lys) SNV Pathogenic 6189 rs121908834 GRCh37: 1:33263369-33263369
GRCh38: 1:32797768-32797768
5 YARS1 NM_003680.3(YARS1):c.586G>C (p.Glu196Gln) SNV Pathogenic/Likely pathogenic 243071 rs121908834 GRCh37: 1:33263369-33263369
GRCh38: 1:32797768-32797768
6 YARS1 NM_003680.3(YARS1):c.946G>A (p.Ala316Thr) SNV Conflicting interpretations of pathogenicity 297154 rs138454151 GRCh37: 1:33248101-33248101
GRCh38: 1:32782500-32782500
7 YARS1 NM_003680.3(YARS1):c.1507G>A (p.Ala503Thr) SNV Uncertain significance 297148 rs778099655 GRCh37: 1:33241662-33241662
GRCh38: 1:32776061-32776061
8 S100PBP , YARS1 NM_003680.3(YARS1):c.41T>C (p.Ile14Thr) SNV Uncertain significance 533457 rs1553127237 GRCh37: 1:33282805-33282805
GRCh38: 1:32817204-32817204
9 YARS1 NM_003680.3(YARS1):c.1348C>T (p.Arg450Cys) SNV Uncertain significance 533464 rs141955005 GRCh37: 1:33245111-33245111
GRCh38: 1:32779510-32779510
10 YARS1 NM_003680.3(YARS1):c.1012A>G (p.Ser338Gly) SNV Uncertain significance 571694 rs763921769 GRCh37: 1:33248035-33248035
GRCh38: 1:32782434-32782434
11 YARS1 NM_003680.3(YARS1):c.1349G>C (p.Arg450Pro) SNV Uncertain significance 648368 rs147005844 GRCh37: 1:33245110-33245110
GRCh38: 1:32779509-32779509
12 YARS1 NM_003680.3(YARS1):c.347A>T (p.Lys116Met) SNV Uncertain significance 835179 GRCh37: 1:33276225-33276225
GRCh38: 1:32810624-32810624
13 YARS1 NM_003680.3(YARS1):c.1487A>C (p.Lys496Thr) SNV Uncertain significance 852512 GRCh37: 1:33241682-33241682
GRCh38: 1:32776081-32776081
14 YARS1 NM_003680.3(YARS1):c.1570G>C (p.Gly524Arg) SNV Uncertain significance 855711 GRCh37: 1:33241599-33241599
GRCh38: 1:32775998-32775998
15 YARS1 NM_003680.3(YARS1):c.1349G>A (p.Arg450His) SNV Uncertain significance 944972 GRCh37: 1:33245110-33245110
GRCh38: 1:32779509-32779509
16 YARS1 NM_003680.3(YARS1):c.631A>T (p.Met211Leu) SNV Uncertain significance 955500 GRCh37: 1:33256816-33256816
GRCh38: 1:32791215-32791215
17 YARS1 NM_003680.3(YARS1):c.232G>A (p.Ala78Thr) SNV Uncertain significance 965802 GRCh37: 1:33276340-33276340
GRCh38: 1:32810739-32810739
18 YARS1 NM_003680.3(YARS1):c.1281dup (p.Pro428fs) Duplication Uncertain significance 970902 GRCh37: 1:33245738-33245739
GRCh38: 1:32780137-32780138
19 YARS1 NM_003680.3(YARS1):c.298G>A (p.Val100Met) SNV Uncertain significance 618497 rs766704849 GRCh37: 1:33276274-33276274
GRCh38: 1:32810673-32810673
20 YARS1 NM_003680.4(YARS1):c.1584C>G (p.Ser528Arg) SNV Uncertain significance 1053468 GRCh37: 1:33241585-33241585
GRCh38: 1:32775984-32775984
21 YARS1 NM_003680.4(YARS1):c.1387C>G (p.Pro463Ala) SNV Uncertain significance 1057802 GRCh37: 1:33245072-33245072
GRCh38: 1:32779471-32779471
22 YARS1 NM_003680.4(YARS1):c.1181T>G (p.Val394Gly) SNV Uncertain significance 1060955 GRCh37: 1:33245839-33245839
GRCh38: 1:32780238-32780238
23 overlap with 181 genes NC_000001.10:g.(?_33241563)_(46663513_?)dup Duplication Uncertain significance 584069 GRCh37: 1:33241563-46663513
GRCh38:
24 YARS1 NC_000001.11:g.(?_32775971)_(32797853_?)dup Duplication Uncertain significance 830933 GRCh37: 1:33241572-33263454
GRCh38:
25 YARS1 NM_003680.3(YARS1):c.1014C>G (p.Ser338Arg) SNV Uncertain significance 937640 GRCh37: 1:33248033-33248033
GRCh38: 1:32782432-32782432
26 YARS1 NM_003680.3(YARS1):c.322A>G (p.Ile108Val) SNV Uncertain significance 942051 GRCh37: 1:33276250-33276250
GRCh38: 1:32810649-32810649
27 YARS1 NM_003680.3(YARS1):c.937G>A (p.Val313Ile) SNV Uncertain significance 971339 GRCh37: 1:33248110-33248110
GRCh38: 1:32782509-32782509
28 YARS1 NM_003680.3:c.1373C>T SNV Uncertain significance 982672 GRCh37: 1:33245086-33245086
GRCh38: 1:32779485-32779485
29 YARS1 NM_003680.3(YARS1):c.1571G>C (p.Gly524Ala) SNV Uncertain significance 220175 rs201687117 GRCh37: 1:33241598-33241598
GRCh38: 1:32775997-32775997
30 YARS1 NM_003680.3(YARS1):c.211A>G (p.Ile71Val) SNV Uncertain significance 464875 rs145768628 GRCh37: 1:33276361-33276361
GRCh38: 1:32810760-32810760
31 YARS1 NM_003680.3(YARS1):c.1138A>C (p.Lys380Gln) SNV Uncertain significance 464872 rs1405248711 GRCh37: 1:33246651-33246651
GRCh38: 1:32781050-32781050
32 YARS1 NM_003680.3(YARS1):c.1549A>G (p.Ile517Val) SNV Uncertain significance 533461 rs371220818 GRCh37: 1:33241620-33241620
GRCh38: 1:32776019-32776019
33 YARS1 NM_003680.3(YARS1):c.176T>C (p.Ile59Thr) SNV Uncertain significance 576327 rs774466323 GRCh37: 1:33276540-33276540
GRCh38: 1:32810939-32810939
34 YARS1 NM_003680.3(YARS1):c.1094del (p.Pro365fs) Deletion Uncertain significance 581271 rs1413975578 GRCh37: 1:33246695-33246695
GRCh38: 1:32781094-32781094
35 YARS1 NM_003680.3(YARS1):c.1531A>G (p.Met511Val) SNV Uncertain significance 643209 rs1569696187 GRCh37: 1:33241638-33241638
GRCh38: 1:32776037-32776037
36 YARS1 NM_003680.3(YARS1):c.821-3T>C SNV Uncertain significance 658402 rs757673905 GRCh37: 1:33252051-33252051
GRCh38: 1:32786450-32786450
37 YARS1 NM_003680.3(YARS1):c.177T>G (p.Ile59Met) SNV Uncertain significance 843247 GRCh37: 1:33276539-33276539
GRCh38: 1:32810938-32810938
38 YARS1 NM_003680.3(YARS1):c.1418A>G (p.Glu473Gly) SNV Uncertain significance 843281 GRCh37: 1:33245041-33245041
GRCh38: 1:32779440-32779440
39 YARS1 NM_003680.3(YARS1):c.1574G>A (p.Gly525Glu) SNV Uncertain significance 860911 GRCh37: 1:33241595-33241595
GRCh38: 1:32775994-32775994
40 YARS1 NM_003680.3(YARS1):c.763G>A (p.Val255Met) SNV Uncertain significance 935155 GRCh37: 1:33252598-33252598
GRCh38: 1:32786997-32786997
41 YARS1 NM_003680.3(YARS1):c.362C>G (p.Thr121Ser) SNV Uncertain significance 959476 GRCh37: 1:33276210-33276210
GRCh38: 1:32810609-32810609
42 YARS1 NM_003680.3(YARS1):c.209C>T (p.Thr70Ile) SNV Uncertain significance 961814 GRCh37: 1:33276363-33276363
GRCh38: 1:32810762-32810762
43 YARS1 NM_003680.3(YARS1):c.499C>A (p.Pro167Thr) SNV Uncertain significance 662296 rs1279417718 GRCh37: 1:33272094-33272094
GRCh38: 1:32806493-32806493
44 YARS1 NC_000001.10:g.33252012T>C SNV Uncertain significance 999654 GRCh37: 1:33252012-33252012
GRCh38: 1:32786411-32786411
45 YARS1 NC_000001.10:g.33263395T>C SNV Uncertain significance 1000518 GRCh37: 1:33263395-33263395
GRCh38: 1:32797794-32797794
46 YARS1 NC_000001.10:g.33276526T>G SNV Uncertain significance 994597 GRCh37: 1:33276526-33276526
GRCh38: 1:32810925-32810925
47 S100PBP , YARS1 NC_000001.10:g.33282829C>T SNV Uncertain significance 1008426 GRCh37: 1:33282829-33282829
GRCh38: 1:32817228-32817228
48 YARS1 NC_000001.10:g.33252562C>T SNV Uncertain significance 1009686 GRCh37: 1:33252562-33252562
GRCh38: 1:32786961-32786961
49 YARS1 NC_000001.10:g.33256785C>T SNV Uncertain significance 1009954 GRCh37: 1:33256785-33256785
GRCh38: 1:32791184-32791184
50 YARS1 NM_003680.3(YARS1):c.795G>C (p.Lys265Asn) SNV Uncertain significance 464881 rs141482636 GRCh37: 1:33252566-33252566
GRCh38: 1:32786965-32786965

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

72
# Symbol AA change Variation ID SNP ID
1 YARS1 p.Gly41Arg VAR_026681 rs121908833
2 YARS1 p.Glu196Lys VAR_026684 rs121908834

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
12.99 YARS2 YARS1 MARS1 KARS1 GARS1 EPRS1
2
Show member pathways
11.47 YARS2 YARS1 MARS1 KARS1 GARS1 EPRS1

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 cytosol GO:0005829 9.85 YARS2 YARS1 S100PBP MARS1 KARS1 GDAP1
2 mitochondrion GO:0005739 9.73 YARS2 KARS1 GDAP1 GARS1 DARS2 AARS1
3 mitochondrial matrix GO:0005759 9.26 YARS2 KARS1 GARS1 DARS2
4 aminoacyl-tRNA synthetase multienzyme complex GO:0017101 8.8 MARS1 KARS1 EPRS1

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 translation GO:0006412 9.56 YARS2 YARS1 MARS1 KARS1 GARS1 EPRS1
2 tRNA aminoacylation GO:0043039 9.46 YARS2 EPRS1 DARS2 AARS1
3 mitochondrial fission GO:0000266 9.37 GDAP1 DNM2
4 diadenosine tetraphosphate biosynthetic process GO:0015966 9.32 KARS1 GARS1
5 tyrosyl-tRNA aminoacylation GO:0006437 9.26 YARS2 YARS1
6 tRNA aminoacylation for protein translation GO:0006418 9.23 YARS2 YARS1 MARS1 KARS1 GARS1 EPRS1

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 ATP binding GO:0005524 9.92 YARS2 YARS1 MARS1 KARS1 GARS1 EPRS1
2 nucleotide binding GO:0000166 9.91 YARS2 YARS1 MARS1 KARS1 GARS1 EPRS1
3 tRNA binding GO:0000049 9.63 YARS2 YARS1 MARS1 KARS1 DARS2 AARS1
4 ligase activity GO:0016874 9.56 YARS2 YARS1 MARS1 KARS1 GARS1 EPRS1
5 amino acid binding GO:0016597 9.4 KARS1 AARS1
6 tyrosine-tRNA ligase activity GO:0004831 9.37 YARS2 YARS1
7 aminoacyl-tRNA ligase activity GO:0004812 9.23 YARS2 YARS1 MARS1 KARS1 GARS1 EPRS1

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

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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