CMT2D
MCID: CHR649
MIFTS: 38

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

Categories: Genetic diseases, Metabolic 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 58 54
Charcot-Marie-Tooth Disease Type 2d 12 77 54 30 6 15
Charcot-Marie-Tooth Disease, Type 2d 58 13 41 74
Cmt2d 58 12 60 76
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2d 12 60
Charcot-Marie-Tooth Disease, Neuronal, Type 2d 58 54
Charcot-Marie-Tooth Disease Neuronal Type 2d 12 76
Charcot-Marie-Tooth Neuropathy Type 2d 12 76
Charcot-Marie-Tooth Disease Axonal Type 2d 76
Charcot-Marie-Tooth Neuropathy, Type 2d 58
Charcot Marie Tooth Disease Type 2d 54
Charcot-Marie-Tooth Disease 2d 76
Cmt 2d 54

Characteristics:

Orphanet epidemiological data:

60
autosomal dominant charcot-marie-tooth disease type 2d
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

OMIM:

58
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:

33
charcot-marie-tooth disease, axonal, type 2d:
Onset and clinical course slow progression onset
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110164
OMIM 58 601472
MeSH 45 D002607
ICD10 34 G60.0
ICD10 via Orphanet 35 G60.0
UMLS via Orphanet 75 C1832274
Orphanet 60 ORPHA99938
MedGen 43 C1832274
UMLS 74 C1832274

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

UniProtKB/Swiss-Prot : 76 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 axonal neuropathy and neuropathy. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2d is GARS (Glycyl-TRNA Synthetase), and among its related pathways/superpathways is Neural Crest Differentiation. 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 : 77 Charcot–Marie–Tooth disease (CMT) is one of the hereditary motor and sensory neuropathies, a group of... more...

Description from OMIM: 601472

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
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 all 42)
# Related Disease Score Top Affiliating Genes
1 axonal neuropathy 29.7 GARS PMP22
2 neuropathy 29.1 EGR2 GARS GJB1 MPZ PMP22
3 charcot-marie-tooth disease 28.4 EGR2 GARS GJB1 KIF1B MPZ PMP22
4 tooth disease 28.4 EGR2 GARS GJB1 KIF1B MPZ PMP22
5 charcot-marie-tooth disease, axonal, type 2i 10.1 KIF1B MPZ
6 charcot-marie-tooth disease, axonal, type 2j 10.1 KIF1B MPZ
7 charcot-marie-tooth disease, axonal, type 2l 10.1 KIF1B MPZ
8 charcot-marie-tooth disease, axonal, type 2q 10.0 EGR2 MPZ
9 spinal muscular atrophy 10.0
10 muscular atrophy 10.0
11 autoimmune peripheral neuropathy 10.0 GJB1 MPZ
12 congenital hypomyelination neuropathy 9.9 MPZ PMP22
13 foot drop 9.9 MPZ PMP22
14 brachial plexus neuropathy 9.9 KIF1B PMP22
15 roussy-levy hereditary areflexic dystasia 9.9 MPZ PMP22
16 charcot-marie-tooth disease, axonal, type 2f 9.9 GJB1 KIF1B MPZ
17 chronic inflammatory demyelinating polyradiculoneuropathy 9.8 MPZ PMP22
18 hereditary motor and sensory neuropathy, type iic 9.8 GJB1 KIF1B MPZ
19 polyradiculoneuropathy 9.8 MPZ PMP22
20 cauda equina syndrome 9.8 EGR2 PMP22
21 pelizaeus-merzbacher disease 9.8 MPZ PMP22
22 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 9.8 EGR2 GJB1 MPZ
23 guillain-barre syndrome 9.8 MPZ PMP22
24 neuritis 9.7 MPZ PMP22
25 charcot-marie-tooth hereditary neuropathy 9.7 GARS MPZ PMP22
26 neuromuscular disease 9.7 MPZ PMP22
27 amyotrophic neuralgia 9.6 GJB1 KIF1B PMP22
28 charcot-marie-tooth disease, demyelinating, type 1f 9.6 GJB1 MPZ PMP22
29 charcot-marie-tooth disease, x-linked dominant, 1 9.6 GJB1 MPZ PMP22
30 polyneuropathy 9.5 MPZ PMP22
31 motor peripheral neuropathy 9.4 GJB1 KIF1B MPZ PMP22
32 sensory peripheral neuropathy 9.3 EGR2 GJB1 MPZ PMP22
33 charcot-marie-tooth disease, demyelinating, type 1c 9.1 EGR2 GJB1 KIF1B MPZ PMP22
34 charcot-marie-tooth disease, demyelinating, type 1b 9.1 EGR2 GJB1 KIF1B MPZ PMP22
35 charcot-marie-tooth disease, axonal, type 2b 9.1 EGR2 GJB1 KIF1B MPZ PMP22
36 charcot-marie-tooth disease, demyelinating, type 1a 9.1 EGR2 GJB1 KIF1B MPZ PMP22
37 charcot-marie-tooth disease, demyelinating, type 1d 9.1 EGR2 GJB1 KIF1B MPZ PMP22
38 neuropathy, hereditary, with liability to pressure palsies 9.1 EGR2 GJB1 KIF1B MPZ PMP22
39 charcot-marie-tooth disease and deafness 9.1 EGR2 GJB1 KIF1B MPZ PMP22
40 hypertrophic neuropathy of dejerine-sottas 9.1 EGR2 GJB1 KIF1B MPZ PMP22
41 peripheral nervous system disease 8.9 EGR2 GARS GJB1 KIF1B MPZ PMP22
42 charcot-marie-tooth disease, axonal, type 2e 8.9 EGR2 GARS GJB1 KIF1B MPZ PMP22

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:

33 (show all 13)
# Description HPO Frequency HPO Source Accession
1 scoliosis 33 HP:0002650
2 pes cavus 33 HP:0001761
3 hyporeflexia 33 HP:0001265
4 upper limb muscle weakness 33 HP:0003484
5 thenar muscle atrophy 33 HP:0003393
6 first dorsal interossei muscle weakness 33 HP:0003392
7 first dorsal interossei muscle atrophy 33 HP:0003426
8 thenar muscle weakness 33 HP:0003427
9 hammertoe 33 HP:0001765
10 distal amyotrophy 33 HP:0003693
11 distal sensory impairment 33 HP:0002936
12 cold-induced hand cramps 33 HP:0003435
13 upper limb amyotrophy 33 HP:0009129

Symptoms via clinical synopsis from OMIM:

58
Skeletal Feet:
pes cavus
hammertoes

Skeletal Spine:
scoliosis may be present

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

Clinical features from OMIM:

601472

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

27 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-109 9.53 GARS
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-117 9.53 KIF1B
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.53 EGR2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.53 GARS KIF1B
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 9.53 EGR2 GARS KIF1B
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.53 GARS
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-180 9.53 EGR2
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-211 9.53 KIF1B
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 9.53 GARS
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.53 GARS
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-38 9.53 EGR2
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-87 9.53 GARS
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.53 EGR2

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

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.7 CRIPT EGR2 GARS GJB1 KIF1B MPZ
2 mortality/aging MP:0010768 9.5 CRIPT EGR2 GARS GJB1 KIF1B MPZ
3 nervous system MP:0003631 9.1 EGR2 GARS GJB1 KIF1B MPZ PMP22

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 30 GARS

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

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

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

# Title Authors Year
1
A novel mutation in glycyl-tRNA synthetase caused Charcot-Marie-Tooth disease type 2D with facial and respiratory muscle involvement. ( 25420567 )
2014
2
Charcot-Marie-Tooth disease type 2D with a novel glycyl-tRNA synthetase gene (GARS) mutation. ( 20169446 )
2010
3
Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. ( 12690580 )
2003
4
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. ( 9879677 )
1998

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

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

76
# Symbol AA change Variation ID SNP ID
1 GARS p.Glu125Gly VAR_018718 rs137852645
2 GARS p.Gly294Arg VAR_018720 rs137852643
3 GARS p.Ala111Val VAR_073187 rs370531212
4 GARS p.Asp200Asn VAR_073188
5 GARS p.Ser265Phe VAR_073189
6 GARS p.Pro298Leu VAR_073190 rs137852648
7 GARS p.Asp554Asn VAR_073193 rs137852647
8 GARS p.Gly652Ala VAR_073195
9 GARS p.Asp200Tyr VAR_074016
10 GARS p.Met292Arg VAR_074017

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

6 (show all 24)
# Gene Variation Type Significance SNP ID Assembly Location
1 GARS NM_002047.3(GARS): c.1904C> T (p.Ser635Leu) single nucleotide variant Pathogenic rs201358272 GRCh37 Chromosome 7, 30671863: 30671863
2 GARS NM_002047.3(GARS): c.1904C> T (p.Ser635Leu) single nucleotide variant Pathogenic rs201358272 GRCh38 Chromosome 7, 30632247: 30632247
3 GARS NM_002047.3(GARS): c.998A> T (p.Glu333Val) single nucleotide variant Likely pathogenic rs863224873 GRCh38 Chromosome 7, 30612212: 30612212
4 GARS NM_002047.3(GARS): c.998A> T (p.Glu333Val) single nucleotide variant Likely pathogenic rs863224873 GRCh37 Chromosome 7, 30651828: 30651828
5 GARS NM_002047.3(GARS): c.880G> C (p.Gly294Arg) single nucleotide variant Pathogenic/Likely pathogenic rs137852643 GRCh37 Chromosome 7, 30649345: 30649345
6 GARS NM_002047.3(GARS): c.880G> C (p.Gly294Arg) single nucleotide variant Pathogenic/Likely pathogenic rs137852643 GRCh38 Chromosome 7, 30609729: 30609729
7 GARS NM_002047.3(GARS): c.374A> G (p.Glu125Gly) single nucleotide variant Pathogenic rs137852645 GRCh37 Chromosome 7, 30639612: 30639612
8 GARS NM_002047.3(GARS): c.374A> G (p.Glu125Gly) single nucleotide variant Pathogenic rs137852645 GRCh38 Chromosome 7, 30599996: 30599996
9 GARS NM_002047.3(GARS): c.1660G> A (p.Asp554Asn) single nucleotide variant Pathogenic rs137852647 GRCh37 Chromosome 7, 30665896: 30665896
10 GARS NM_002047.3(GARS): c.1660G> A (p.Asp554Asn) single nucleotide variant Pathogenic rs137852647 GRCh38 Chromosome 7, 30626280: 30626280
11 GARS NM_002047.3(GARS): c.893C> T (p.Pro298Leu) single nucleotide variant Pathogenic rs137852648 GRCh37 Chromosome 7, 30651723: 30651723
12 GARS NM_002047.3(GARS): c.893C> T (p.Pro298Leu) single nucleotide variant Pathogenic rs137852648 GRCh38 Chromosome 7, 30612107: 30612107
13 GARS NM_002047.3(GARS): c.222+5C> T single nucleotide variant Benign rs2072236 GRCh37 Chromosome 7, 30634764: 30634764
14 GARS NM_002047.3(GARS): c.222+5C> T single nucleotide variant Benign rs2072236 GRCh38 Chromosome 7, 30595148: 30595148
15 GARS NM_002047.3(GARS): c.93G> C (p.Leu31=) single nucleotide variant Benign rs2529438 GRCh37 Chromosome 7, 30634630: 30634630
16 GARS NM_002047.3(GARS): c.93G> C (p.Leu31=) single nucleotide variant Benign rs2529438 GRCh38 Chromosome 7, 30595014: 30595014
17 GARS NM_002047.3(GARS): c.2042C> T (p.Pro681Leu) single nucleotide variant Uncertain significance rs879254346 GRCh37 Chromosome 7, 30672001: 30672001
18 GARS NM_002047.3(GARS): c.2042C> T (p.Pro681Leu) single nucleotide variant Uncertain significance rs879254346 GRCh38 Chromosome 7, 30632385: 30632385
19 GARS NM_002047.3(GARS): c.124C> G (p.Pro42Ala) single nucleotide variant Benign rs1049402 GRCh37 Chromosome 7, 30634661: 30634661
20 GARS NM_002047.3(GARS): c.124C> G (p.Pro42Ala) single nucleotide variant Benign rs1049402 GRCh38 Chromosome 7, 30595045: 30595045
21 GARS NM_002047.3(GARS): c.2095-6C> T single nucleotide variant Benign rs2240401 GRCh38 Chromosome 7, 30633729: 30633729
22 GARS NM_002047.3(GARS): c.2095-6C> T single nucleotide variant Benign rs2240401 GRCh37 Chromosome 7, 30673345: 30673345
23 GARS NM_002047.3(GARS): c.-45C> G single nucleotide variant not provided rs903029869 GRCh37 Chromosome 7, 30634493: 30634493
24 GARS NM_002047.3(GARS): c.-45C> G single nucleotide variant not provided rs903029869 GRCh38 Chromosome 7, 30594877: 30594877

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 10.81 GJB1 MPZ PMP22

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

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 peripheral nervous system development GO:0007422 8.96 EGR2 PMP22
2 myelination GO:0042552 8.8 EGR2 MPZ PMP22

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 scaffold protein binding GO:0097110 8.62 CRIPT KIF1B

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
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41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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