CMT2U
MCID: CHR547
MIFTS: 40

Charcot-Marie-Tooth Disease, Axonal, Type 2u (CMT2U)

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

Aliases & Classifications for Charcot-Marie-Tooth Disease, Axonal, Type 2u

MalaCards integrated aliases for Charcot-Marie-Tooth Disease, Axonal, Type 2u:

Name: Charcot-Marie-Tooth Disease, Axonal, Type 2u 57 29 6 39
Cmt2u 57 12 58 72
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2u 57 72
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2u 12 58
Charcot-Marie-Tooth Disease Axonal Type 2u 12 15
Charcot-Marie-Tooth Neuropathy, Type 2u 57 72
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Mars Mutation 58
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2u 12
Charcot-Marie-Tooth Neuropathy Type 2u 12
Charcot-Marie-Tooth Disease 2u 72

Characteristics:

Orphanet epidemiological data:

58
autosomal dominant charcot-marie-tooth disease type 2u
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
slowly progressive
two unrelated families have been reported (last curated march 2015)
late-adult onset (age 50 or later)


HPO:

31
charcot-marie-tooth disease, axonal, type 2u:
Inheritance autosomal dominant inheritance
Onset and clinical course slow progression


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110173
OMIM® 57 616280
OMIM Phenotypic Series 57 PS118220
MeSH 44 D002607
ICD10 32 G60.0
ICD10 via Orphanet 33 G60.0
Orphanet 58 ORPHA397735

Summaries for Charcot-Marie-Tooth Disease, Axonal, Type 2u

UniProtKB/Swiss-Prot : 72 Charcot-Marie-Tooth disease 2U: An axonal 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. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. CMT2U is a slowly progressive, autosomal dominant form characterized by late-adult onset.

MalaCards based summary : Charcot-Marie-Tooth Disease, Axonal, Type 2u, also known as cmt2u, is related to peripheral nervous system disease and tooth disease. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2u is MARS1 (Methionyl-TRNA Synthetase 1), and among its related pathways/superpathways are Gene Expression and tRNA Aminoacylation. Affiliated tissues include liver and lung, and related phenotypes are areflexia and steppage gait

Disease Ontology : 12 A Charcot-Marie-Tooth disease type 2 that has material basis in heterozygous mutation in the MARS gene on chromosome 12q13.

OMIM® : 57 Charcot-Marie-Tooth disease type 2U (CMT2U) is an autosomal dominant neurologic disorder characterized by late-adult onset of distal sensory impairment resulting in distal muscle weakness and atrophy affecting the upper and lower limbs. The disorder is slowly progressive (summary by Gonzalez et al., 2013). For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (118210). (616280) (Updated 20-May-2021)

Related Diseases for Charcot-Marie-Tooth Disease, Axonal, Type 2u

Diseases in the Charcot-Marie-Tooth Disease, Axonal, Type 2e family:

Charcot-Marie-Tooth Disease, Axonal, Type 2a1 Charcot-Marie-Tooth Disease, Axonal, Type 2b
Charcot-Marie-Tooth Disease, Axonal, Type 2d Charcot-Marie-Tooth Disease, Axonal, Type 2b1
Charcot-Marie-Tooth Disease, Axonal, Type 2b2 Charcot-Marie-Tooth Disease, Axonal, Type 2f
Charcot-Marie-Tooth Disease, Axonal, Type 2i Charcot-Marie-Tooth Disease, Axonal, Type 2h
Charcot-Marie-Tooth Disease, Axonal, Type 2j Charcot-Marie-Tooth Disease, Axonal, Type 2k
Charcot-Marie-Tooth Disease, Axonal, Type 2l Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a
Charcot-Marie-Tooth Disease, Axonal, Type 2n Charcot-Marie-Tooth Disease, Axonal, Type 2o
Charcot-Marie-Tooth Disease, Axonal, Type 2p Charcot-Marie-Tooth Disease, Axonal, Type 2q
Charcot-Marie-Tooth Disease, Axonal, Type 2r Charcot-Marie-Tooth Disease, Axonal, Type 2u
Charcot-Marie-Tooth Disease, Axonal, Type 2v Charcot-Marie-Tooth Disease, Axonal, Type 2w
Charcot-Marie-Tooth Disease, Axonal, Type 2x Charcot-Marie-Tooth Disease, Axonal, Type 2z
Charcot-Marie-Tooth Disease, Axonal, Type 2cc Charcot-Marie-Tooth Disease, Axonal, Type 2t
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b Charcot-Marie-Tooth Disease, Axonal, Type 2dd
Charcot-Marie-Tooth Disease, Axonal, Type 2ee Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due to Copper Metabolism Defect

Diseases related to Charcot-Marie-Tooth Disease, Axonal, Type 2u via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 50)
# Related Disease Score Top Affiliating Genes
1 peripheral nervous system disease 30.1 GJB1 GARS1 EPRS1
2 tooth disease 28.9 YARS1 MARS1 KARS1 GJB1 GARS1 AARS1
3 neuromuscular disease 28.8 YARS1 KARS1 GJB1 GARS1 EPRS1 AARS1
4 charcot-marie-tooth disease 27.7 YARS1 WARS1 MIR6758 MARS1 KARS1 GJB1
5 polyneuropathy 10.4
6 chronic inflammatory demyelinating polyradiculoneuropathy 10.4
7 demyelinating polyneuropathy 10.4
8 neuropathy 10.4
9 deafness, autosomal recessive 89 10.1 KARS1 EPRS1
10 antisynthetase syndrome 10.1 KARS1 EPRS1
11 charcot-marie-tooth disease, demyelinating, type 1d 10.1 GJB1 GARS1
12 charcot-marie-tooth disease type x 10.1 GJB1 GARS1
13 interstitial lung and liver disease 10.0 MIR6758 MARS1 ARHGAP9
14 combined oxidative phosphorylation deficiency 20 10.0 KARS1 GARS1
15 hereditary motor and sensory neuropathy, type iic 10.0 GJB1 GARS1
16 charcot-marie-tooth disease, axonal, type 2f 10.0 GJB1 GARS1
17 charcot-marie-tooth disease, x-linked dominant, 1 10.0 GJB1 GARS1
18 charcot-marie-tooth disease, type 4a 10.0 GJB1 GARS1
19 charcot-marie-tooth disease, axonal, type 2b 10.0 GJB1 GARS1
20 combined oxidative phosphorylation deficiency 12 10.0 EPRS1 AARS1
21 neuropathy, hereditary, with liability to pressure palsies 10.0 GJB1 GARS1
22 charcot-marie-tooth disease, demyelinating, type 1c 10.0 GJB1 GARS1
23 charcot-marie-tooth disease, type 4b2 10.0 GJB1 GARS1
24 robinow syndrome 9.9 MARS1 KARS1 EPRS1
25 charcot-marie-tooth disease, axonal, type 2b2 9.9 GARS1 AARS1
26 pontocerebellar hypoplasia, type 6 9.9 KARS1 AARS1
27 usher syndrome, type iiib 9.9 YARS1 EPRS1
28 hypertrophic neuropathy of dejerine-sottas 9.9 GJB1 GARS1
29 motor neuron disease 9.9 MARS1 GARS1 EPRS1
30 charcot-marie-tooth disease, dominant intermediate a 9.8 YARS1 GJB1
31 charcot-marie-tooth disease, axonal, type 2i 9.7 GJB1 GARS1 AARS1
32 spinal muscular atrophy 9.7 MARS1 GARS1 AARS1
33 trichohepatoenteric syndrome 1 9.7 EPRS1 AARS1
34 charcot-marie-tooth disease, demyelinating, type 1b 9.6 YARS1 GJB1 GARS1
35 leukodystrophy 9.6 KARS1 GJB1 EPRS1
36 infantile liver failure syndrome 9.6 YARS1 EPRS1 AARS1
37 rigid spine muscular dystrophy 1 9.5 YARS1 AARS1
38 charcot-marie-tooth disease, recessive intermediate b 9.3 YARS1 KARS1 GARS1 AARS1
39 charcot-marie-tooth disease and deafness 9.3 YARS1 GJB1 GARS1 AARS1
40 neuropathy, congenital hypomyelinating, 1, autosomal recessive 9.3 YARS1 GJB1 GARS1 AARS1
41 autosomal dominant distal hereditary motor neuronopathy 9.1 YARS1 KARS1 GARS1 EPRS1 AARS1
42 perrault syndrome 9.1 YARS1 KARS1 GARS1 EPRS1 AARS1
43 developmental and epileptic encephalopathy 29 9.1 YARS1 WARS1 KARS1 GARS1 AARS1
44 charcot-marie-tooth disease intermediate type 9.0 YARS1 KARS1 GJB1 GARS1 AARS1
45 charcot-marie-tooth disease, axonal, type 2n 9.0 YARS1 MARS1 KARS1 GARS1 EPRS1 AARS1
46 neuronopathy, distal hereditary motor, type va 8.9 YARS1 MARS1 KARS1 GARS1 EPRS1 AARS1
47 robinow syndrome, autosomal recessive 1 8.9 YARS1 WARS1 MARS1 KARS1 EPRS1 AARS1
48 charcot-marie-tooth disease, dominant intermediate c 8.7 YARS1 MARS1 KARS1 GJB1 GARS1 EPRS1
49 charcot-marie-tooth disease, axonal, type 2d 8.7 YARS1 MARS1 KARS1 GJB1 GARS1 EPRS1
50 charcot-marie-tooth disease, axonal, type 2e 8.6 YARS1 MARS1 KARS1 GJB1 GARS1 EPRS1

Graphical network of the top 20 diseases related to Charcot-Marie-Tooth Disease, Axonal, Type 2u:



Diseases related to Charcot-Marie-Tooth Disease, Axonal, Type 2u

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease, Axonal, Type 2u

Human phenotypes related to Charcot-Marie-Tooth Disease, Axonal, Type 2u:

31
# Description HPO Frequency HPO Source Accession
1 areflexia 31 HP:0001284
2 steppage gait 31 HP:0003376
3 distal sensory impairment 31 HP:0002936
4 peripheral axonal neuropathy 31 HP:0003477
5 foot dorsiflexor weakness 31 HP:0009027

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Peripheral Nervous System:
areflexia
steppage gait
distal sensory impairment
foot drop
axonal neuropathy

Muscle Soft Tissue:
distal muscle weakness of upper and lower limbs due to peripheral neuropathy
distal muscle atrophy of upper and lower limbs due to peripheral neuropathy

Clinical features from OMIM®:

616280 (Updated 20-May-2021)

Drugs & Therapeutics for Charcot-Marie-Tooth Disease, Axonal, Type 2u

Search Clinical Trials , NIH Clinical Center for Charcot-Marie-Tooth Disease, Axonal, Type 2u

Genetic Tests for Charcot-Marie-Tooth Disease, Axonal, Type 2u

Genetic tests related to Charcot-Marie-Tooth Disease, Axonal, Type 2u:

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease, Axonal, Type 2u 29 MARS1

Anatomical Context for Charcot-Marie-Tooth Disease, Axonal, Type 2u

MalaCards organs/tissues related to Charcot-Marie-Tooth Disease, Axonal, Type 2u:

40
Liver, Lung

Publications for Charcot-Marie-Tooth Disease, Axonal, Type 2u

Articles related to Charcot-Marie-Tooth Disease, Axonal, Type 2u:

# Title Authors PMID Year
1
Rare variants in methionyl- and tyrosyl-tRNA synthetase genes in late-onset autosomal dominant Charcot-Marie-Tooth neuropathy. 6 57
24354524 2014
2
Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2. 57 6
23729695 2013
3
Diagnostic yield of targeted sequential and massive panel approaches for inherited neuropathies. 61
32506583 2020
4
A Novel Mutation in MARS in a Patient with Charcot-Marie-Tooth Disease, Axonal, Type 2U with Congenital Onset. 61
31356216 2019
5
Mutations in methionyl-tRNA synthetase gene in a Chinese family with interstitial lung and liver disease, postnatal growth failure and anemia. 61
28148924 2017
6
Histopathological features of a patient with Charcot-Marie-Tooth disease type 2U/AD-CMTax-MARS. 61
27717217 2016

Variations for Charcot-Marie-Tooth Disease, Axonal, Type 2u

ClinVar genetic disease variations for Charcot-Marie-Tooth Disease, Axonal, Type 2u:

6 (show top 50) (show all 118)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MARS1 NM_004990.4(MARS1):c.1500del (p.Lys500fs) Deletion Pathogenic 1032279 GRCh37: 12:57905610-57905610
GRCh38: 12:57511827-57511827
2 MARS1 NM_004990.4(MARS1):c.1756del (p.Tyr586fs) Deletion Pathogenic 1032280 GRCh37: 12:57906536-57906536
GRCh38: 12:57512753-57512753
3 ARHGAP9 , MARS1 NM_004990.4(MARS1):c.97del (p.Thr32_Val33insTer) Deletion Pathogenic 933333 GRCh37: 12:57881970-57881970
GRCh38: 12:57488187-57488187
4 MARS1 NM_004990.4(MARS1):c.1852C>T (p.Arg618Cys) SNV Pathogenic 156025 rs587777718 GRCh37: 12:57906632-57906632
GRCh38: 12:57512849-57512849
5 MARS1 NM_004990.4(MARS1):c.2398C>A (p.Pro800Thr) SNV Pathogenic 187857 rs781249411 GRCh37: 12:57909709-57909709
GRCh38: 12:57515926-57515926
6 MARS1 NM_004990.4(MARS1):c.2531C>T (p.Ala844Val) SNV Uncertain significance 575870 rs773914259 GRCh37: 12:57910095-57910095
GRCh38: 12:57516312-57516312
7 MARS1 NM_004990.4(MARS1):c.1945A>G (p.Asn649Asp) SNV Uncertain significance 655481 rs748955220 GRCh37: 12:57906725-57906725
GRCh38: 12:57512942-57512942
8 MARS1 NM_004990.4(MARS1):c.353G>A (p.Arg118Gln) SNV Uncertain significance 662692 rs141397530 GRCh37: 12:57883280-57883280
GRCh38: 12:57489497-57489497
9 MARS1 NM_004990.4(MARS1):c.1189G>A (p.Ala397Thr) SNV Uncertain significance 694266 rs1594821331 GRCh37: 12:57894201-57894201
GRCh38: 12:57500418-57500418
10 MARS1 NM_004990.4(MARS1):c.1535A>G (p.Asp512Gly) SNV Uncertain significance 835640 GRCh37: 12:57905647-57905647
GRCh38: 12:57511864-57511864
11 MARS1 NM_004990.4(MARS1):c.652A>G (p.Asn218Asp) SNV Uncertain significance 838269 GRCh37: 12:57884151-57884151
GRCh38: 12:57490368-57490368
12 MARS1 NM_004990.4(MARS1):c.2138G>A (p.Arg713Gln) SNV Uncertain significance 846387 GRCh37: 12:57908775-57908775
GRCh38: 12:57514992-57514992
13 MARS1 NM_004990.4(MARS1):c.1177G>A (p.Ala393Thr) SNV Uncertain significance 242615 rs141340466 GRCh37: 12:57894189-57894189
GRCh38: 12:57500406-57500406
14 MARS1 NM_004990.4(MARS1):c.986C>A (p.Pro329His) SNV Uncertain significance 859475 GRCh37: 12:57892301-57892301
GRCh38: 12:57498518-57498518
15 MARS1 NM_004990.4(MARS1):c.746C>T (p.Pro249Leu) SNV Uncertain significance 549700 rs146146070 GRCh37: 12:57884403-57884403
GRCh38: 12:57490620-57490620
16 MARS1 NM_004990.4(MARS1):c.163A>G (p.Ser55Gly) SNV Uncertain significance 944615 GRCh37: 12:57882855-57882855
GRCh38: 12:57489072-57489072
17 MARS1 NM_004990.4(MARS1):c.853A>T (p.Ile285Phe) SNV Uncertain significance 392628 rs776026574 GRCh37: 12:57892022-57892022
GRCh38: 12:57498239-57498239
18 MARS1 NM_004990.4(MARS1):c.331G>C (p.Glu111Gln) SNV Uncertain significance 917043 GRCh37: 12:57883258-57883258
GRCh38: 12:57489475-57489475
19 MARS1 NM_004990.4(MARS1):c.1241G>A (p.Arg414Gln) SNV Uncertain significance 917031 GRCh37: 12:57894253-57894253
GRCh38: 12:57500470-57500470
20 MARS1 NM_004990.4(MARS1):c.1448G>A (p.Arg483His) SNV Uncertain significance 917036 GRCh37: 12:57905560-57905560
GRCh38: 12:57511777-57511777
21 MARS1 NM_004990.4(MARS1):c.595C>T (p.Arg199Trp) SNV Uncertain significance 1051981 GRCh37: 12:57884094-57884094
GRCh38: 12:57490311-57490311
22 MARS1 NM_004990.4(MARS1):c.2390C>T (p.Thr797Ile) SNV Uncertain significance 977097 GRCh37: 12:57909118-57909118
GRCh38: 12:57515335-57515335
23 MARS1 NM_004990.4(MARS1):c.1792C>T (p.Arg598Cys) SNV Uncertain significance 1056553 GRCh37: 12:57906572-57906572
GRCh38: 12:57512789-57512789
24 MARS1 NM_004990.4(MARS1):c.986C>T (p.Pro329Leu) SNV Uncertain significance 917128 GRCh37: 12:57892301-57892301
GRCh38: 12:57498518-57498518
25 MARS1 NM_004990.4(MARS1):c.1636-7C>G SNV Uncertain significance 1037334 GRCh37: 12:57906012-57906012
GRCh38: 12:57512229-57512229
26 MARS1 NM_004990.4(MARS1):c.643G>A (p.Ala215Thr) SNV Uncertain significance 1042089 GRCh37: 12:57884142-57884142
GRCh38: 12:57490359-57490359
27 MARS1 NM_004990.4(MARS1):c.2521C>G (p.Gln841Glu) SNV Uncertain significance 1046005 GRCh37: 12:57910085-57910085
GRCh38: 12:57516302-57516302
28 ARHGAP9 , MARS1 NM_004990.4(MARS1):c.97del (p.Thr32_Val33insTer) Deletion Uncertain significance 933333 GRCh37: 12:57881970-57881970
GRCh38: 12:57488187-57488187
29 MARS1 NM_004990.4(MARS1):c.2447G>A (p.Arg816His) SNV Uncertain significance 1029914 GRCh37: 12:57909758-57909758
GRCh38: 12:57515975-57515975
30 MARS1 NM_004990.4(MARS1):c.1369-7A>C SNV Uncertain significance 542179 rs377050640 GRCh37: 12:57905474-57905474
GRCh38: 12:57511691-57511691
31 MARS1 NM_004990.4(MARS1):c.2116C>T (p.Arg706Cys) SNV Uncertain significance 475419 rs148501787 GRCh37: 12:57908753-57908753
GRCh38: 12:57514970-57514970
32 MARS1 NM_004990.4(MARS1):c.2391A>C (p.Thr797=) SNV Uncertain significance 389593 rs140573721 GRCh37: 12:57909119-57909119
GRCh38: 12:57515336-57515336
33 MARS1 NM_004990.4(MARS1):c.699T>G (p.Ile233Met) SNV Uncertain significance 449718 rs201597392 GRCh37: 12:57884356-57884356
GRCh38: 12:57490573-57490573
34 MARS1 NM_004990.4(MARS1):c.617C>T (p.Pro206Leu) SNV Uncertain significance 542171 rs138776588 GRCh37: 12:57884116-57884116
GRCh38: 12:57490333-57490333
35 MARS1 NM_004990.4(MARS1):c.1673C>A (p.Pro558His) SNV Uncertain significance 542172 rs771808261 GRCh37: 12:57906056-57906056
GRCh38: 12:57512273-57512273
36 MARS1 NM_004990.4(MARS1):c.2294C>T (p.Ala765Val) SNV Uncertain significance 542173 rs559255944 GRCh37: 12:57909022-57909022
GRCh38: 12:57515239-57515239
37 MARS1 NM_004990.4(MARS1):c.661G>A (p.Glu221Lys) SNV Uncertain significance 420243 rs200334446 GRCh37: 12:57884160-57884160
GRCh38: 12:57490377-57490377
38 MARS1 NM_004990.4(MARS1):c.1091+2dup Duplication Uncertain significance 430002 rs754216322 GRCh37: 12:57892407-57892408
GRCh38: 12:57498624-57498625
39 MARS1 NM_004990.4(MARS1):c.616C>T (p.Pro206Ser) SNV Uncertain significance 573196 rs1565637642 GRCh37: 12:57884115-57884115
GRCh38: 12:57490332-57490332
40 MARS1 NM_004990.4(MARS1):c.1732G>A (p.Val578Ile) SNV Uncertain significance 848340 GRCh37: 12:57906115-57906115
GRCh38: 12:57512332-57512332
41 MARS1 NM_004990.4(MARS1):c.330G>T (p.Gly110=) SNV Uncertain significance 853107 GRCh37: 12:57883257-57883257
GRCh38: 12:57489474-57489474
42 MARS1 NM_004990.4(MARS1):c.228G>T (p.Glu76Asp) SNV Uncertain significance 618205 rs369313141 GRCh37: 12:57883077-57883077
GRCh38: 12:57489294-57489294
43 ARHGAP9 , MARS1 NM_004990.4(MARS1):c.38T>C (p.Leu13Ser) SNV Uncertain significance 949640 GRCh37: 12:57881911-57881911
GRCh38: 12:57488128-57488128
44 MARS1 NM_004990.4(MARS1):c.734A>G (p.Glu245Gly) SNV Uncertain significance 444297 rs778753999 GRCh37: 12:57884391-57884391
GRCh38: 12:57490608-57490608
45 MARS1 NM_004990.4(MARS1):c.1318T>G (p.Ser440Ala) SNV Uncertain significance 1001765 GRCh37: 12:57898032-57898032
GRCh38: 12:57504249-57504249
46 MARS1 NM_004990.4(MARS1):c.751C>T (p.Arg251Trp) SNV Uncertain significance 1009808 GRCh37: 12:57884408-57884408
GRCh38: 12:57490625-57490625
47 MARS1 NM_004990.4(MARS1):c.1967+3A>G SNV Uncertain significance 935820 GRCh37: 12:57906750-57906750
GRCh38: 12:57512967-57512967
48 MARS1 NM_004990.4(MARS1):c.659del (p.Pro220fs) Deletion Uncertain significance 946663 GRCh37: 12:57884157-57884157
GRCh38: 12:57490374-57490374
49 MARS1 NM_004990.4(MARS1):c.415-5C>G SNV Uncertain significance 948750 GRCh37: 12:57883674-57883674
GRCh38: 12:57489891-57489891
50 MARS1 NM_004990.4(MARS1):c.2384T>C (p.Ile795Thr) SNV Uncertain significance 1019872 GRCh37: 12:57909112-57909112
GRCh38: 12:57515329-57515329

UniProtKB/Swiss-Prot genetic disease variations for Charcot-Marie-Tooth Disease, Axonal, Type 2u:

72
# Symbol AA change Variation ID SNP ID
1 MARS1 p.Arg618Cys VAR_073377 rs587777718
2 MARS1 p.Pro800Thr VAR_073378 rs781249411

Expression for Charcot-Marie-Tooth Disease, Axonal, Type 2u

Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease, Axonal, Type 2u.

Pathways for Charcot-Marie-Tooth Disease, Axonal, Type 2u

Pathways related to Charcot-Marie-Tooth Disease, Axonal, Type 2u according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.99 YARS1 WARS1 MIR6758 MARS1 KARS1 GARS1
2
Show member pathways
11.47 YARS1 WARS1 MIR6758 MARS1 KARS1 GARS1

GO Terms for Charcot-Marie-Tooth Disease, Axonal, Type 2u

Cellular components related to Charcot-Marie-Tooth Disease, Axonal, Type 2u according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.76 YARS1 WARS1 MARS1 KARS1 GARS1 EPRS1
2 cytoplasm GO:0005737 9.61 YARS1 WARS1 MARS1 KARS1 GJB1 GARS1
3 aminoacyl-tRNA synthetase multienzyme complex GO:0017101 8.8 MARS1 KARS1 EPRS1

Biological processes related to Charcot-Marie-Tooth Disease, Axonal, Type 2u according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 translation GO:0006412 9.5 YARS1 WARS1 MARS1 KARS1 GARS1 EPRS1
2 tRNA aminoacylation GO:0043039 9.26 EPRS1 AARS1
3 tRNA aminoacylation for protein translation GO:0006418 9.17 YARS1 WARS1 MARS1 KARS1 GARS1 EPRS1
4 diadenosine tetraphosphate biosynthetic process GO:0015966 9.16 KARS1 GARS1

Molecular functions related to Charcot-Marie-Tooth Disease, Axonal, Type 2u according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.87 YARS1 WARS1 MARS1 KARS1 GARS1 EPRS1
2 ATP binding GO:0005524 9.8 YARS1 WARS1 MARS1 KARS1 GARS1 EPRS1
3 ligase activity GO:0016874 9.5 YARS1 WARS1 MARS1 KARS1 GARS1 EPRS1
4 tRNA binding GO:0000049 9.46 YARS1 MARS1 KARS1 AARS1
5 amino acid binding GO:0016597 9.37 KARS1 AARS1
6 aminoacyl-tRNA ligase activity GO:0004812 9.17 YARS1 WARS1 MARS1 KARS1 GARS1 EPRS1

Sources for Charcot-Marie-Tooth Disease, Axonal, Type 2u

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
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57 OMIM® (Updated 20-May-2021)
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