CMT2D
MCID: CHR649
MIFTS: 47

Charcot-Marie-Tooth Disease, Axonal, Type 2d (CMT2D)

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

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

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

Name: Charcot-Marie-Tooth Disease, Axonal, Type 2d 57 20
Charcot-Marie-Tooth Disease Type 2d 12 73 20 29 6 15
Charcot-Marie-Tooth Disease, Type 2d 57 13 39 70
Cmt2d 57 12 58 72
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2d 12 58
Charcot-Marie-Tooth Disease, Neuronal, Type 2d 57 20
Charcot-Marie-Tooth Disease Neuronal Type 2d 12 72
Charcot-Marie-Tooth Neuropathy Type 2d 12 72
Charcot-Marie-Tooth Disease Axonal Type 2d 72
Charcot-Marie-Tooth Neuropathy, Type 2d 57
Charcot Marie Tooth Disease Type 2d 20
Charcot-Marie-Tooth Disease 2d 72
Cmt 2d 20

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

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

Miscellaneous:
slow disease progression
mean age of onset 18 years
allelic disorder to distal spinal muscular atrophy type v (dsmav, ), but distinguished by more severe distal sensory involvement


HPO:

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


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110164
OMIM® 57 601472
OMIM Phenotypic Series 57 PS118220
MeSH 44 D002607
ICD10 32 G60.0
ICD10 via Orphanet 33 G60.0
UMLS via Orphanet 71 C1832274
Orphanet 58 ORPHA99938
MedGen 41 C1832274
UMLS 70 C1832274

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

UniProtKB/Swiss-Prot : 72 Charcot-Marie-Tooth disease 2D: A dominant 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.

MalaCards based summary : Charcot-Marie-Tooth Disease, Axonal, Type 2d, also known as charcot-marie-tooth disease type 2d, is related to muscular atrophy and neuronopathy, distal hereditary motor, type va. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2d is GARS1 (Glycyl-TRNA Synthetase 1), and among its related pathways/superpathways are tRNA Aminoacylation and Neural Crest Differentiation. Affiliated tissues include brain and liver, and related phenotypes are scoliosis and pes cavus

Disease Ontology : 12 A Charcot-Marie-Tooth disease type 2 that has material basis in mutation in the gene encoding glycyl tRNA synthetase (GARS).

Wikipedia : 73 Charcot-Marie-Tooth disease (CMT) is a hereditary motor and sensory neuropathy of the peripheral nervous... more...

More information from OMIM: 601472 PS118220

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

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 2d via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 115)
# Related Disease Score Top Affiliating Genes
1 muscular atrophy 30.0 SH3TC2 HSPB8 GARS1 BSCL2
2 neuronopathy, distal hereditary motor, type va 29.3 YARS2 YARS1 MFN2 MARS1 KARS1 HSPB8
3 motor neuron disease 29.2 SH3TC2 NEFL MPZ MFN2 MARS1 GARS1
4 axonal neuropathy 29.2 PMP22 NEFL MFN2 GDAP1 GARS1
5 spinal muscular atrophy 28.8 SH3TC2 PMP22 NEFL MARS1 HSPB8 GARS1
6 charcot-marie-tooth disease, demyelinating, type 1a 28.0 SPTLC1 SH3TC2 PMP22 NEFL MPZ MFN2
7 neuropathy 27.7 SPTLC1 SH3TC2 PMP22 NEFL MPZ MFN2
8 peripheral nervous system disease 27.6 SPTLC1 SH3TC2 PMP22 NEFL MPZ MFN2
9 tooth disease 26.9 YARS1 SPTLC1 SH3TC2 PMP22 NEFL MPZ
10 charcot-marie-tooth disease, axonal, type 2e 26.5 YARS1 SPTLC1 SH3TC2 PMP22 NEFL MPZ
11 neuromuscular disease 26.5 YARS1 SPTLC1 SH3TC2 PMP22 NEFL MPZ
12 charcot-marie-tooth disease 26.4 YARS2 YARS1 SPTLC1 SH3TC2 PMP22 NEFL
13 bscl2-related neurologic disorders/seipinopathy 10.3 GARS1 BSCL2
14 pupil disease 10.3 MPZ GDAP1
15 argyll robertson pupil 10.3 MPZ GDAP1
16 abnormal pupillary function 10.3 MPZ GDAP1
17 spinal muscular atrophy with lower extremity predominance 10.3 GDAP1 GARS1
18 deafness, autosomal recessive 89 10.3 KARS1 EPRS1
19 usher syndrome, type iiib 10.3 YARS1 EPRS1
20 thoracic outlet syndrome 10.3 GARS1 BSCL2
21 infantile liver failure syndrome 10.3 YARS1 EPRS1 AARS1
22 robinow syndrome 10.2 MARS1 KARS1 EPRS1
23 antisynthetase syndrome 10.2 KARS1 EPRS1
24 combined oxidative phosphorylation deficiency 20 10.2 YARS2 KARS1 GARS1
25 autoimmune peripheral neuropathy 10.2 MPZ GJB1
26 gars1-associated axonal neuropathy 10.2
27 rigid spine muscular dystrophy 1 10.2 YARS2 YARS1 AARS1
28 developmental and epileptic encephalopathy 29 10.1 YARS1 KARS1 GARS1 AARS1
29 charcot-marie-tooth disease, axonal, type 2k 10.1 HSPB8 GDAP1
30 spastic paraplegia 17, autosomal dominant 10.1 HSPB8 GARS1 BSCL2
31 charcot-marie-tooth hereditary neuropathy 10.1
32 charcot-marie-tooth disease, axonal, type 2w 10.1 MPZ GJB1 GDAP1
33 charcot-marie-tooth disease, axonal, type 2b1 10.1 MFN2 GDAP1
34 foot drop 10.1 PMP22 MPZ
35 neuropathy, hereditary motor and sensory, russe type 10.1 SH3TC2 GDAP1
36 tertiary neurosyphilis 10.1 SPTLC1 NEFL
37 charcot-marie-tooth disease, dominant intermediate d 10.1 YARS1 SH3TC2 MPZ
38 giant axonal neuropathy 2 10.1 NEFL HSPB8
39 slowed nerve conduction velocity, autosomal dominant 10.1 NEFL MPZ GJB1
40 amyotrophic neuralgia 10.0 PMP22 MPZ
41 charcot-marie-tooth disease x-linked recessive 4 10.0 MPZ GJB1
42 charcot-marie-tooth disease, dominant intermediate e 10.0 SH3TC2 MPZ GDAP1
43 charcot-marie-tooth disease, recessive intermediate a 10.0 MFN2 HSPB8 GDAP1
44 charcot-marie-tooth disease, demyelinating, type 4f 10.0 SH3TC2 MPZ GDAP1
45 charcot-marie-tooth disease, type 4h 10.0 SH3TC2 MPZ GDAP1
46 roussy-levy hereditary areflexic dystasia 10.0 PMP22 MPZ
47 charcot-marie-tooth disease, type 4j 10.0 SH3TC2 MPZ GDAP1
48 charcot-marie-tooth disease, type 4b1 10.0 SH3TC2 MPZ GDAP1
49 distal hereditary motor neuronopathy type 2 10.0 MPZ HSPB8 GARS1 BSCL2
50 charcot-marie-tooth disease, dominant intermediate a 10.0 YARS1 MPZ GJB1 GDAP1

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



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

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

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

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 HP:0002650
2 pes cavus 31 HP:0001761
3 hyporeflexia 31 HP:0001265
4 hammertoe 31 HP:0001765
5 distal sensory impairment 31 HP:0002936
6 distal amyotrophy 31 HP:0003693
7 upper limb muscle weakness 31 HP:0003484
8 postural instability 31 HP:0002172
9 thenar muscle atrophy 31 HP:0003393
10 upper limb amyotrophy 31 HP:0009129
11 first dorsal interossei muscle weakness 31 HP:0003392
12 first dorsal interossei muscle atrophy 31 HP:0003426
13 thenar muscle weakness 31 HP:0003427
14 cold-induced hand cramps 31 HP:0003435

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal Feet:
pes cavus
hammertoes

Skeletal Spine:
scoliosis may be present

Neurologic Peripheral Nervous System:
hyporeflexia
distal sensory impairment
thenar muscle atrophy
first dorsal interossei muscle weakness
first dorsal interossei muscle atrophy
more

Clinical features from OMIM®:

601472 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Charcot-Marie-Tooth Disease, Axonal, Type 2d according to GeneCards Suite gene sharing:

26 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 9.75 GJB1
2 Decreased viability GR00055-A-2 9.75 GJB1
3 Decreased viability GR00106-A-0 9.75 KARS1
4 Decreased viability GR00107-A-1 9.75 HSPB8
5 Decreased viability GR00221-A-1 9.75 HSPB8
6 Decreased viability GR00221-A-4 9.75 HSPB8
7 Decreased viability GR00240-S-1 9.75 EPRS1
8 Decreased viability GR00249-S 9.75 GJB1 KARS1 MARS1 MPZ SH3TC2
9 Decreased viability GR00301-A 9.75 HSPB8
10 Decreased viability GR00381-A-1 9.75 MPZ SH3TC2
11 Decreased viability GR00381-A-3 9.75 MPZ
12 Decreased viability GR00386-A-1 9.75 KARS1 MARS1 MPZ NEFL SPTLC1
13 Decreased viability GR00402-S-2 9.75 EPRS1 GARS1 GJB1 KARS1 MPZ YARS1

MGI Mouse Phenotypes related to Charcot-Marie-Tooth Disease, Axonal, Type 2d:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.07 AARS1 BSCL2 GARS1 GDAP1 GJB1 HSPB8
2 homeostasis/metabolism MP:0005376 9.97 AARS1 BSCL2 DARS2 EPRS1 GDAP1 GJB1
3 mortality/aging MP:0010768 9.8 AARS1 BSCL2 DARS2 EPRS1 GARS1 GJB1
4 nervous system MP:0003631 9.44 AARS1 BSCL2 GARS1 GDAP1 GJB1 HSPB8

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

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

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

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

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease Type 2d 29 GARS1

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

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

40
Brain, Liver

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

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

(show all 36)
# Title Authors PMID Year
1
A novel mutation in the GARS gene in a Malian family with Charcot-Marie-Tooth disease. 6 61 57
31173493 2019
2
Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. 6 57 61
12690580 2003
3
Autosomal dominant distal spinal muscular atrophy type V (dSMA-V) and Charcot-Marie-Tooth disease type 2D (CMT2D) segregate within a single large kindred and map to a refined region on chromosome 7p15. 6 61 57
9879677 1998
4
The GARS gene is rarely mutated in Japanese patients with Charcot-Marie-Tooth neuropathy. 6 57
19329989 2009
5
Confirmation of a second locus for CMT2 and evidence for additional genetic heterogeneity. 57 6
10732809 1997
6
Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D). 57 6
8872480 1996
7
Impaired function is a common feature of neuropathy-associated glycyl-tRNA synthetase mutations. 61 6
25168514 2014
8
Molecular diagnostic experience of whole-exome sequencing in adult patients. 6
26633545 2016
9
Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease. 6
24669931 2014
10
Dispersed disease-causing neomorphic mutations on a single protein promote the same localized conformational opening. 6
21737751 2011
11
Charcot-Marie-Tooth disease-associated mutant tRNA synthetases linked to altered dimer interface and neurite distribution defect. 6
17595294 2007
12
Crystal structure of human wildtype and S581L-mutant glycyl-tRNA synthetase, an enzyme underlying distal spinal muscular atrophy. 6
17544401 2007
13
Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene. 6
17101916 2006
14
An active dominant mutation of glycyl-tRNA synthetase causes neuropathy in a Charcot-Marie-Tooth 2D mouse model. 57
16982418 2006
15
Coexistence of CMT-2D and distal SMA-V phenotypes in an Italian family with a GARS gene mutation. 6
16534118 2006
16
Molecular genetics of distal hereditary motor neuropathies. 57
15358725 2004
17
The CMT2D locus: refined genetic position and construction of a bacterial clone-based physical map. 57
10400924 1999
18
Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p. 57
8541851 1995
19
Clinical and Genetic Features in a Series of Eight Unrelated Patients with Neuropathy Due to Glycyl-tRNA Synthetase (GARS) Variants. 61
31985473 2020
20
Altered Sensory Neuron Development in CMT2D Mice Is Site-Specific and Linked to Increased GlyRS Levels. 61
32848623 2020
21
Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models. 61
31557132 2019
22
Plexin-Semaphorin Signaling Modifies Neuromuscular Defects in a Drosophila Model of Peripheral Neuropathy. 61
29520219 2018
23
Neuropilin 1 sequestration by neuropathogenic mutant glycyl-tRNA synthetase is permissive to vascular homeostasis. 61
28835631 2017
24
[Analysis of a Chinese Charcot-Marie-Tooth disease type 2D pedigree]. 61
28763882 2017
25
Trk receptor signaling and sensory neuron fate are perturbed in human neuropathy caused by Gars mutations. 61
28351971 2017
26
Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction. 61
28594869 2017
27
A novel mutation of the glycyl-tRNA synthetase (GARS) gene associated with Charcot-Marie-Tooth type 2D in a Chinese family. 61
26000875 2015
28
Neuromuscular junction maturation defects precede impaired lower motor neuron connectivity in Charcot-Marie-Tooth type 2D mice. 61
24368416 2014
29
A novel adenoviral vector-mediated mouse model of Charcot-Marie-Tooth type 2D (CMT2D). 61
23990368 2014
30
[A novel mutation in glycyl-tRNA synthetase caused Charcot-Marie-Tooth disease type 2D with facial and respiratory muscle involvement]. 61
25420567 2014
31
Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levels. 61
22144914 2011
32
Arabidopsis thaliana, a plant model organism for the neuronal microtubule cytoskeleton? 61
20813785 2011
33
Charcot-Marie-Tooth disease type 2D with a novel glycyl-tRNA synthetase gene (GARS) mutation. 61
20169446 2010
34
GARS axonopathy: not every neuron's cup of tRNA. 61
20152552 2010
35
Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons. 61
17035524 2006
36
Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations. 61
16014653 2005

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

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

6 (show top 50) (show all 86)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GARS1 NM_002047.4(GARS1):c.794C>A (p.Ser265Tyr) SNV Pathogenic 984908 GRCh37: 7:30649259-30649259
GRCh38: 7:30609643-30609643
2 GARS1 NM_002047.4(GARS1):c.628G>T (p.Glu210Ter) SNV Pathogenic 1029404 GRCh37: 7:30642708-30642708
GRCh38: 7:30603092-30603092
3 GARS1 NM_002047.4(GARS1):c.880G>C (p.Gly294Arg) SNV Pathogenic 9204 rs137852643 GRCh37: 7:30649345-30649345
GRCh38: 7:30609729-30609729
4 GARS1 NM_002047.4(GARS1):c.374A>G (p.Glu125Gly) SNV Pathogenic 9206 rs137852645 GRCh37: 7:30639612-30639612
GRCh38: 7:30599996-30599996
5 GARS1 NM_002047.4(GARS1):c.1904C>T (p.Ser635Leu) SNV Pathogenic 209157 rs201358272 GRCh37: 7:30671863-30671863
GRCh38: 7:30632247-30632247
6 GARS1 NM_002047.4(GARS1):c.893C>T (p.Pro298Leu) SNV Pathogenic 9209 rs137852648 GRCh37: 7:30651723-30651723
GRCh38: 7:30612107-30612107
7 GARS1 NM_002047.4(GARS1):c.998A>T (p.Glu333Val) SNV Likely pathogenic 216930 rs863224873 GRCh37: 7:30651828-30651828
GRCh38: 7:30612212-30612212
8 GARS1 NM_002047.4(GARS1):c.647A>G (p.His216Arg) SNV Likely pathogenic 694991 rs768987322 GRCh37: 7:30642727-30642727
GRCh38: 7:30603111-30603111
9 GARS1 NM_002047.4(GARS1):c.1001T>A (p.Ile334Asn) SNV Likely pathogenic 543227 rs1554338262 GRCh37: 7:30651831-30651831
GRCh38: 7:30612215-30612215
10 GARS1 NM_002047.4(GARS1):c.1660G>A (p.Asp554Asn) SNV Conflicting interpretations of pathogenicity 9208 rs137852647 GRCh37: 7:30665896-30665896
GRCh38: 7:30626280-30626280
11 GARS1 NM_002047.4(GARS1):c.1059C>G (p.His353Gln) SNV Uncertain significance 360010 rs886062273 GRCh37: 7:30655539-30655539
GRCh38: 7:30615923-30615923
12 GARS1 NM_002047.4(GARS1):c.-36C>T SNV Uncertain significance 360001 rs531483802 GRCh37: 7:30634502-30634502
GRCh38: 7:30594886-30594886
13 GARS1 NM_002047.4(GARS1):c.2042C>T (p.Pro681Leu) SNV Uncertain significance 246654 rs879254346 GRCh37: 7:30672001-30672001
GRCh38: 7:30632385-30632385
14 GARS1 NM_002047.4(GARS1):c.1186G>A (p.Val396Ile) SNV Uncertain significance 410310 rs1060502836 GRCh37: 7:30655666-30655666
GRCh38: 7:30616050-30616050
15 GARS1 NM_002047.4(GARS1):c.34G>A (p.Ala12Thr) SNV Uncertain significance 812167 rs1584017035 GRCh37: 7:30634571-30634571
GRCh38: 7:30594955-30594955
16 GARS1 NM_002047.4(GARS1):c.2159A>C (p.Glu720Ala) SNV Uncertain significance 585901 rs530891983 GRCh37: 7:30673415-30673415
GRCh38: 7:30633799-30633799
17 GARS1 NM_002047.4(GARS1):c.262C>G (p.Gln88Glu) SNV Uncertain significance 410311 rs201728920 GRCh37: 7:30638451-30638451
GRCh38: 7:30598835-30598835
18 GARS1 NM_002047.4(GARS1):c.2211C>T (p.Ile737=) SNV Uncertain significance 360018 rs886062274 GRCh37: 7:30673467-30673467
GRCh38: 7:30633851-30633851
19 GARS1 NM_002047.3(GARS):c.-197G>C SNV Uncertain significance 359995 rs886062269 GRCh37: 7:30634341-30634341
GRCh38: 7:30594725-30594725
20 GARS1 NM_002047.4(GARS1):c.1809+14T>C SNV Uncertain significance 360016 rs367739730 GRCh37: 7:30668299-30668299
GRCh38: 7:30628683-30628683
21 GARS1 NM_002047.4(GARS1):c.1478A>G (p.Asn493Ser) SNV Uncertain significance 360014 rs538571144 GRCh37: 7:30661943-30661943
GRCh38: 7:30622327-30622327
22 GARS1 NM_001316772.1(GARS1):c.-221C>T SNV Uncertain significance 359999 rs886062271 GRCh37: 7:30634479-30634479
GRCh38: 7:30594863-30594863
23 GARS1 NM_002047.3(GARS):c.-237A>C SNV Uncertain significance 359991 rs540431164 GRCh37: 7:30634301-30634301
GRCh38: 7:30594685-30594685
24 GARS1 NM_001316772.1(GARS1):c.-342G>C SNV Uncertain significance 909538 GRCh37: 7:30634358-30634358
GRCh38: 7:30594742-30594742
25 GARS1 NM_002047.4(GARS1):c.616G>A (p.Val206Ile) SNV Uncertain significance 649537 rs1584026136 GRCh37: 7:30642696-30642696
GRCh38: 7:30603080-30603080
26 GARS1 NM_002047.4(GARS1):c.1143G>C (p.Gln381His) SNV Uncertain significance 910635 GRCh37: 7:30655623-30655623
GRCh38: 7:30616007-30616007
27 GARS1 NM_002047.4(GARS1):c.1694T>A (p.Leu565Gln) SNV Uncertain significance 834709 GRCh37: 7:30665930-30665930
GRCh38: 7:30626314-30626314
28 GARS1 NM_001316772.1(GARS1):c.-231T>G SNV Uncertain significance 911698 GRCh37: 7:30634469-30634469
GRCh38: 7:30594853-30594853
29 GARS1 NM_001316772.1(GARS1):c.-226C>T SNV Uncertain significance 908741 GRCh37: 7:30634474-30634474
GRCh38: 7:30594858-30594858
30 GARS1 NM_002047.4(GARS1):c.765G>A (p.Ala255=) SNV Uncertain significance 360006 rs201447520 GRCh37: 7:30649230-30649230
GRCh38: 7:30609614-30609614
31 GARS1 NC_000007.14:g.30594727A>T SNV Uncertain significance 908681 GRCh37: 7:30634343-30634343
GRCh38: 7:30594727-30594727
32 GARS1 NM_002047.4(GARS1):c.1253C>T (p.Thr418Met) SNV Uncertain significance 908914 GRCh37: 7:30656788-30656788
GRCh38: 7:30617172-30617172
33 GARS1 NM_001316772.1(GARS1):c.-242C>T SNV Uncertain significance 359997 rs886062270 GRCh37: 7:30634458-30634458
GRCh38: 7:30594842-30594842
34 GARS1 NM_002047.4(GARS1):c.882-4A>G SNV Uncertain significance 360009 rs778219649 GRCh37: 7:30651708-30651708
GRCh38: 7:30612092-30612092
35 GARS1 NM_001316772.1(GARS1):c.-328T>G SNV Uncertain significance 910465 GRCh37: 7:30634372-30634372
GRCh38: 7:30594756-30594756
36 GARS1 NM_001316772.1(GARS1):c.-247C>A SNV Uncertain significance 910466 GRCh37: 7:30634453-30634453
GRCh38: 7:30594837-30594837
37 GARS1 NM_002047.4(GARS1):c.1188T>C (p.Val396=) SNV Uncertain significance 911861 GRCh37: 7:30655668-30655668
GRCh38: 7:30616052-30616052
38 GARS1 NM_002047.4(GARS1):c.1194+3A>C SNV Uncertain significance 911862 GRCh37: 7:30655677-30655677
GRCh38: 7:30616061-30616061
39 GARS1 NM_002047.4(GARS1):c.1770A>G (p.Glu590=) SNV Uncertain significance 910686 GRCh37: 7:30668246-30668246
GRCh38: 7:30628630-30628630
40 GARS1 NM_002047.4(GARS1):c.*145C>A SNV Uncertain significance 911971 GRCh37: 7:30673621-30673621
GRCh38: 7:30634005-30634005
41 GARS1 NM_002047.4(GARS1):c.384G>A (p.Leu128=) SNV Uncertain significance 360003 rs886062272 GRCh37: 7:30639622-30639622
GRCh38: 7:30600006-30600006
42 GARS1 NM_002047.4(GARS1):c.700G>A (p.Glu234Lys) SNV Likely benign 476760 rs373326652 GRCh37: 7:30643153-30643153
GRCh38: 7:30603537-30603537
43 GARS1 NM_002047.4(GARS1):c.302G>A (p.Arg101His) SNV Likely benign 245685 rs200887429 GRCh37: 7:30638491-30638491
GRCh38: 7:30598875-30598875
44 GARS1 NM_002047.4(GARS1):c.270C>T (p.Asp90=) SNV Likely benign 360002 rs369898799 GRCh37: 7:30638459-30638459
GRCh38: 7:30598843-30598843
45 GARS1 NM_002047.4(GARS1):c.764C>T (p.Ala255Val) SNV Likely benign 360005 rs765478968 GRCh37: 7:30649229-30649229
GRCh38: 7:30609613-30609613
46 GARS1 NM_002047.4(GARS1):c.1100A>G (p.Asn367Ser) SNV Likely benign 360011 rs192443850 GRCh37: 7:30655580-30655580
GRCh38: 7:30615964-30615964
47 GARS1 NM_002047.4(GARS1):c.1852G>A (p.Val618Ile) SNV Likely benign 216550 rs369894731 GRCh37: 7:30671106-30671106
GRCh38: 7:30631490-30631490
48 GARS1 NM_002047.4(GARS1):c.1962C>T (p.Ile654=) SNV Likely benign 219915 rs201927627 GRCh37: 7:30671921-30671921
GRCh38: 7:30632305-30632305
49 GARS1 NM_002047.4(GARS1):c.699C>T (p.Val233=) SNV Likely benign 360004 rs187937286 GRCh37: 7:30643152-30643152
GRCh38: 7:30603536-30603536
50 GARS1 NM_002047.4(GARS1):c.253A>G (p.Lys85Glu) SNV Likely benign 422016 rs200294578 GRCh37: 7:30638442-30638442
GRCh38: 7:30598826-30598826

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

72
# Symbol AA change Variation ID SNP ID
1 GARS1 p.Glu125Gly VAR_018718 rs137852645
2 GARS1 p.Gly294Arg VAR_018720 rs137852643
3 GARS1 p.Ala111Val VAR_073187 rs370531212
4 GARS1 p.Asp200Asn VAR_073188 rs155433736
5 GARS1 p.Ser265Phe VAR_073189 rs155433797
6 GARS1 p.Pro298Leu VAR_073190 rs137852648
7 GARS1 p.Asp554Asn VAR_073193 rs137852647
8 GARS1 p.Gly652Ala VAR_073195 rs747080824
9 GARS1 p.Asp200Tyr VAR_074016
10 GARS1 p.Met292Arg VAR_074017 rs106479512

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

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

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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.47 YARS2 YARS1 MARS1 KARS1 GARS1 EPRS1
2 11.14 PMP22 MPZ GJB1

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

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

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 10 YARS2 YARS1 NEFL MFN2 MARS1 KARS1
2 mitochondrion GO:0005739 9.5 YARS2 MFN2 KARS1 GDAP1 GARS1 DARS2
3 mitochondrial matrix GO:0005759 9.46 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, Axonal, Type 2d 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 fusion GO:0008053 9.37 MFN2 GDAP1
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, Axonal, Type 2d according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.97 YARS2 YARS1 MARS1 KARS1 GARS1 EPRS1
2 nucleotide binding GO:0000166 9.97 YARS2 YARS1 MFN2 MARS1 KARS1 GARS1
3 protein homodimerization activity GO:0042803 9.8 YARS2 KARS1 HSPB8 EPRS1 DARS2
4 tRNA binding GO:0000049 9.63 YARS2 YARS1 MARS1 KARS1 DARS2 AARS1
5 ligase activity GO:0016874 9.56 YARS2 YARS1 MARS1 KARS1 GARS1 EPRS1
6 amino acid binding GO:0016597 9.43 KARS1 AARS1
7 tyrosine-tRNA ligase activity GO:0004831 9.26 YARS2 YARS1
8 aminoacyl-tRNA ligase activity GO:0004812 9.23 YARS2 YARS1 MARS1 KARS1 GARS1 EPRS1

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

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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