MCID: CHR649
MIFTS: 34

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

Categories: Genetic diseases, Rare diseases, Neuronal 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 53
Charcot-Marie-Tooth Disease Type 2d 12 53 29 6 15
Charcot-Marie-Tooth Disease, Type 2d 57 13 40 73
Cmt2d 57 12 59 75
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2d 12 59
Charcot-Marie-Tooth Disease, Neuronal, Type 2d 57 53
Charcot-Marie-Tooth Disease Neuronal Type 2d 12 75
Charcot-Marie-Tooth Neuropathy Type 2d 12 75
Charcot-Marie-Tooth Disease Axonal Type 2d 75
Charcot-Marie-Tooth Neuropathy, Type 2d 57
Charcot Marie Tooth Disease Type 2d 53
Charcot-Marie-Tooth Disease 2d 75
Cmt 2d 53

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant charcot-marie-tooth disease type 2d
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

OMIM:

57
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:

32
charcot-marie-tooth disease, axonal, type 2d:
Onset and clinical course slow progression onset
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 601472
Disease Ontology 12 DOID:0110164
ICD10 33 G60.0
Orphanet 59 ORPHA99938
UMLS via Orphanet 74 C1832274
ICD10 via Orphanet 34 G60.0
MedGen 42 C1832274
MeSH 44 D002607
UMLS 73 C1832274

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

UniProtKB/Swiss-Prot : 75 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. Nerve conduction velocities are normal or slightly reduced.

MalaCards based summary : Charcot-Marie-Tooth Disease, Axonal, Type 2d, also known as charcot-marie-tooth disease type 2d, is related to neuropathy and spastic paraplegia 61, autosomal recessive. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2d is GARS (Glycyl-TRNA Synthetase). Related phenotypes are hyporeflexia 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).

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

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

(show all 16)
# Related Disease Score Top Affiliating Genes
1 neuropathy 10.1
2 spastic paraplegia 61, autosomal recessive 9.9 ATL1 SPAST
3 spastic paraplegia 13, autosomal dominant 9.9 ATL1 SPAST
4 spastic paraplegia 31, autosomal dominant 9.9 ATL1 SPAST
5 spastic paraplegia 6, autosomal dominant 9.8 ATL1 SPAST
6 charcot-marie-tooth disease 9.8
7 spinal muscular atrophy 9.8
8 tooth disease 9.8
9 axonal neuropathy 9.8
10 muscular atrophy 9.8
11 distal hereditary motor neuropathies 9.8
12 spastic paraplegia 12, autosomal dominant 9.8 ATL1 SPAST
13 masa syndrome 9.7 ATL1 SPAST
14 hyperekplexia 9.7 GARS GPHN
15 spastic paraplegia 4, autosomal dominant 9.7 ATL1 SPAST
16 spastic paraplegia 3, autosomal dominant 9.5 ATL1 SPAST

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 hyporeflexia 32 HP:0001265
2 pes cavus 32 HP:0001761
3 hammertoe 32 HP:0001765
4 scoliosis 32 HP:0002650
5 distal sensory impairment 32 HP:0002936
6 first dorsal interossei muscle weakness 32 HP:0003392
7 thenar muscle atrophy 32 HP:0003393
8 first dorsal interossei muscle atrophy 32 HP:0003426
9 thenar muscle weakness 32 HP:0003427
10 cold-induced hand cramps 32 HP:0003435
11 upper limb muscle weakness 32 HP:0003484
12 distal amyotrophy 32 HP:0003693
13 upper limb amyotrophy 32 HP:0009129

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 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:

75
# 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 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 GARS NM_002047.3(GARS): c.880G> C (p.Gly294Arg) single nucleotide variant Pathogenic rs137852643 GRCh37 Chromosome 7, 30649345: 30649345
2 GARS NM_002047.3(GARS): c.880G> C (p.Gly294Arg) single nucleotide variant Pathogenic rs137852643 GRCh38 Chromosome 7, 30609729: 30609729
3 GARS NM_002047.3(GARS): c.374A> G (p.Glu125Gly) single nucleotide variant Pathogenic rs137852645 GRCh37 Chromosome 7, 30639612: 30639612
4 GARS NM_002047.3(GARS): c.374A> G (p.Glu125Gly) single nucleotide variant Pathogenic rs137852645 GRCh38 Chromosome 7, 30599996: 30599996
5 GARS NM_002047.3(GARS): c.1660G> A (p.Asp554Asn) single nucleotide variant Pathogenic rs137852647 GRCh37 Chromosome 7, 30665896: 30665896
6 GARS NM_002047.3(GARS): c.1660G> A (p.Asp554Asn) single nucleotide variant Pathogenic rs137852647 GRCh38 Chromosome 7, 30626280: 30626280
7 GARS NM_002047.3(GARS): c.893C> T (p.Pro298Leu) single nucleotide variant Pathogenic rs137852648 GRCh37 Chromosome 7, 30651723: 30651723
8 GARS NM_002047.3(GARS): c.893C> T (p.Pro298Leu) single nucleotide variant Pathogenic rs137852648 GRCh38 Chromosome 7, 30612107: 30612107
9 GARS NM_002047.3(GARS): c.1904C> T (p.Ser635Leu) single nucleotide variant Pathogenic rs201358272 GRCh37 Chromosome 7, 30671863: 30671863
10 GARS NM_002047.3(GARS): c.1904C> T (p.Ser635Leu) single nucleotide variant Pathogenic rs201358272 GRCh38 Chromosome 7, 30632247: 30632247
11 GARS NM_002047.3(GARS): c.998A> T (p.Glu333Val) single nucleotide variant Likely pathogenic rs863224873 GRCh38 Chromosome 7, 30612212: 30612212
12 GARS NM_002047.3(GARS): c.998A> T (p.Glu333Val) single nucleotide variant Likely pathogenic rs863224873 GRCh37 Chromosome 7, 30651828: 30651828
13 GARS NM_002047.3(GARS): c.124C> G (p.Pro42Ala) single nucleotide variant Benign rs1049402 GRCh37 Chromosome 7, 30634661: 30634661
14 GARS NM_002047.3(GARS): c.124C> G (p.Pro42Ala) single nucleotide variant Benign rs1049402 GRCh38 Chromosome 7, 30595045: 30595045
15 GARS NM_002047.3(GARS): c.2095-6C> T single nucleotide variant Benign rs2240401 GRCh38 Chromosome 7, 30633729: 30633729
16 GARS NM_002047.3(GARS): c.2095-6C> T single nucleotide variant Benign rs2240401 GRCh37 Chromosome 7, 30673345: 30673345
17 GARS NM_002047.3(GARS): c.-45C> G single nucleotide variant not provided rs903029869 GRCh37 Chromosome 7, 30634493: 30634493
18 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

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 axon GO:0030424 9.13 ATL1 GARS NRP1
2 cell projection GO:0042995 8.92 ATL1 CRIPT GARS GPHN

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 cytoplasmic microtubule organization GO:0031122 8.96 CRIPT SPAST
2 tRNA aminoacylation for protein translation GO:0006418 8.62 GARS YARS

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 protein binding GO:0005515 9.81 ATL1 CLASRP CRIPT ELP3 GARS GPHN
2 catalytic activity GO:0003824 9.13 ELP3 GPHN SPAST
3 aminoacyl-tRNA ligase activity GO:0004812 8.62 GARS YARS

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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