CMT1D
MCID: CHR653
MIFTS: 37

Charcot-Marie-Tooth Disease, Demyelinating, Type 1d (CMT1D)

Categories: Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Charcot-Marie-Tooth Disease, Demyelinating, Type 1d

MalaCards integrated aliases for Charcot-Marie-Tooth Disease, Demyelinating, Type 1d:

Name: Charcot-Marie-Tooth Disease, Demyelinating, Type 1d 58 54 30 6
Charcot-Marie-Tooth Disease Type 1d 12 54 60 15
Cmt1d 58 12 60 76
Hereditary Motor and Sensory Neuropathy 1d 58 12 54
Charcot-Marie-Tooth Disease, Type 1d 58 13 74
Hmsn Id 58 12 76
Hmsn1d 58 12 76
Charcot-Marie-Tooth Neuropathy Type 1d 12 76
Charcot-Marie-Tooth Disease Demyelinating Type 1d 76
Hereditary Motor and Sensory Neuropathy Id 76
Charcot-Marie-Tooth Neuropathy, Type 1d 58
Charcot-Marie-Tooth Disease, Type Id 41
Charcot Marie Tooth Disease Type 1d 54
Charcot-Marie-Tooth Disease 1d 76
Hmsn 1d 54
Cmt 1d 54

Characteristics:

Orphanet epidemiological data:

60
charcot-marie-tooth disease type 1d
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood,Infancy; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
onset in first or second decade
usually begins in feet and legs (peroneal distribution)
genetic heterogeneity (see cmt1b, )
upper limb involvement may occur later
allelic disorders with overlapping phenotypes include congenital hypomyelinating neuropathy (chn, ) and dejerine-sottas syndrome (dss, )


HPO:

33
charcot-marie-tooth disease, demyelinating, type 1d:
Onset and clinical course variable expressivity juvenile onset
Inheritance heterogeneous autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110150
OMIM 58 607678
ICD10 34 G60.0
MESH via Orphanet 46 C537985
ICD10 via Orphanet 35 G60.0
UMLS via Orphanet 75 C1843247
Orphanet 60 ORPHA101084
MedGen 43 C1843247
UMLS 74 C1843247

Summaries for Charcot-Marie-Tooth Disease, Demyelinating, Type 1d

UniProtKB/Swiss-Prot : 76 Charcot-Marie-Tooth disease 1D: A dominant demyelinating 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). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet.

MalaCards based summary : Charcot-Marie-Tooth Disease, Demyelinating, Type 1d, also known as charcot-marie-tooth disease type 1d, is related to charcot-marie-tooth disease and deafness and tooth disease. An important gene associated with Charcot-Marie-Tooth Disease, Demyelinating, Type 1d is EGR2 (Early Growth Response 2), and among its related pathways/superpathways is Neural Crest Differentiation. Related phenotypes are peripheral neuropathy and decreased motor nerve conduction velocity

Disease Ontology : 12 A Charcot-Marie-Tooth disease type 1 that has material basis in mutation in the early growth response gene-2 (EGR2).

OMIM : 58 For a phenotypic description and a discussion of genetic heterogeneity of autosomal dominant Charcot-Marie-Tooth disease type 1, see CMT1B (118200). (607678)

Related Diseases for Charcot-Marie-Tooth Disease, Demyelinating, Type 1d

Diseases in the Charcot-Marie-Tooth Disease, Demyelinating, Type 1b family:

Charcot-Marie-Tooth Disease, Demyelinating, Type 1a Charcot-Marie-Tooth Disease, Demyelinating, Type 1c
Charcot-Marie-Tooth Disease, Demyelinating, Type 1d Charcot-Marie-Tooth Disease, Demyelinating, Type 1f
Charcot-Marie-Tooth Disease, Demyelinating, Type 4f Charcot-Marie-Tooth Disease, Demyelinating, Type 1g

Diseases related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1d via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 42)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease and deafness 30.7 EGR2 GJB1 KIF1B MPZ MTMR2 PMP22
2 tooth disease 29.5 EGR2 GJB1 KIF1B MPZ MTMR2 NDRG1
3 charcot-marie-tooth disease 29.1 EGR2 GJB1 KIF1B MPZ MTMR2 NDRG1
4 charcot-marie-tooth disease, axonal, type 2i 10.3 KIF1B MPZ
5 charcot-marie-tooth disease, axonal, type 2j 10.3 KIF1B MPZ
6 charcot-marie-tooth disease, axonal, type 2q 10.3 EGR2 MPZ
7 congenital hypomyelination neuropathy 10.2 MPZ PMP22
8 cauda equina syndrome 10.2 EGR2 PMP22
9 charcot-marie-tooth hereditary neuropathy 10.2 MPZ PMP22
10 foot drop 10.2 MPZ PMP22
11 roussy-levy hereditary areflexic dystasia 10.2 MPZ PMP22
12 brachial plexus neuropathy 10.2 KIF1B PMP22
13 neuropathy, hereditary motor and sensory, russe type 10.2 EGR2 NDRG1
14 charcot-marie-tooth disease, x-linked recessive, 2 10.2 GJB1 SULT2B1
15 charcot-marie-tooth disease, axonal, type 2l 10.2 KIF1B MPZ
16 chronic inflammatory demyelinating polyradiculoneuropathy 10.1 MPZ PMP22
17 polyradiculoneuropathy 10.1 MPZ PMP22
18 charcot-marie-tooth disease, x-linked recessive, 3 10.1 GJB1 SULT2B1
19 pelizaeus-merzbacher disease 10.0 MPZ PMP22
20 hereditary sensory and autonomic neuropathy type 1 10.0 MYCN SULT2B1
21 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 10.0 EGR2 GJB1 MPZ
22 autoimmune peripheral neuropathy 10.0 GJB1 MPZ
23 guillain-barre syndrome 10.0 MPZ PMP22
24 amyotrophic neuralgia 10.0 GJB1 KIF1B PMP22
25 charcot-marie-tooth disease, demyelinating, type 1f 10.0 GJB1 MPZ PMP22
26 charcot-marie-tooth disease, x-linked dominant, 1 10.0 GJB1 MPZ PMP22
27 neuritis 9.9 MPZ PMP22
28 charcot-marie-tooth disease, axonal, type 2f 9.9 GJB1 KCNH6 KIF1B MPZ
29 charcot-marie-tooth disease, axonal, type 2d 9.8 GJB1 KIF1B MPZ PMP22
30 charcot-marie-tooth disease, type 4d 9.7 GJB1 MYCN NDRG1
31 charcot-marie-tooth disease, demyelinating, type 1c 9.7 EGR2 GJB1 KIF1B MPZ PMP22
32 neuropathy 9.6 EGR2 GJB1 MPZ PMP22 TFG
33 hereditary motor and sensory neuropathy, type iic 9.5 GJB1 KIF1B MPZ NDRG1 TFG
34 charcot-marie-tooth disease, axonal, type 2b 9.5 EGR2 GJB1 KIF1B MPZ PMP22 SULT2B1
35 charcot-marie-tooth disease, demyelinating, type 1a 9.5 EGR2 GJB1 KIF1B MPZ MTMR2 PMP22
36 neuropathy, hereditary, with liability to pressure palsies 9.5 EGR2 GJB1 KIF1B MPZ MTMR2 PMP22
37 peripheral nervous system disease 9.5 EGR2 GJB1 KIF1B MPZ MTMR2 PMP22
38 sensory peripheral neuropathy 9.4 EGR2 GJB1 MPZ MTMR2 NDRG1 PMP22
39 charcot-marie-tooth disease, demyelinating, type 1b 9.3 EGR2 GJB1 KIF1B MPZ MTMR2 PMP22
40 hypertrophic neuropathy of dejerine-sottas 9.3 EGR2 GJB1 KIF1B MPZ MTMR2 PMP22
41 motor peripheral neuropathy 9.1 GJB1 KIF1B MPZ MTMR2 NDRG1 PMP22
42 charcot-marie-tooth disease, axonal, type 2e 8.6 ADI1 EGR2 GJB1 KCNH6 KIF1B MPZ

Graphical network of the top 20 diseases related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1d:



Diseases related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1d

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease, Demyelinating, Type 1d

Human phenotypes related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1d:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 peripheral neuropathy 33 HP:0009830
2 decreased motor nerve conduction velocity 33 HP:0003431
3 foot dorsiflexor weakness 33 HP:0009027
4 upper limb muscle weakness 33 HP:0003484
5 distal muscle weakness 33 HP:0002460
6 steppage gait 33 HP:0003376
7 distal amyotrophy 33 HP:0003693

Symptoms via clinical synopsis from OMIM:

58
Neurologic Peripheral Nervous System:
distal limb muscle weakness due to peripheral neuropathy
distal limb muscle atrophy due to peripheral neuropathy
'steppage' gait
foot drop
decreased motor nerve conduction velocity (ncv) (less than 38 m/s)

Clinical features from OMIM:

607678

GenomeRNAi Phenotypes related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1d according to GeneCards Suite gene sharing:

27 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-109 9.73 MYCN
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-117 9.73 KIF1B
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.73 EGR2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.73 KIF1B
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 9.73 EGR2 KIF1B MYCN
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.73 MYCN
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-180 9.73 EGR2
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-211 9.73 KIF1B
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-38 9.73 EGR2
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.73 EGR2
11 Synthetic lethal with cisplatin GR00101-A-1 8.62 EGR2 KCNH6

MGI Mouse Phenotypes related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1d:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.86 EGR2 GJB1 KIF1B MPZ MTMR2 MYCN
2 homeostasis/metabolism MP:0005376 9.81 EGR2 GJB1 KIF1B MPZ MYCN NDRG1
3 limbs/digits/tail MP:0005371 9.43 EGR2 KIF1B MTMR2 MYCN PMP22 SPON1
4 nervous system MP:0003631 9.23 EGR2 GJB1 KIF1B MPZ MTMR2 MYCN

Drugs & Therapeutics for Charcot-Marie-Tooth Disease, Demyelinating, Type 1d

Search Clinical Trials , NIH Clinical Center for Charcot-Marie-Tooth Disease, Demyelinating, Type 1d

Genetic Tests for Charcot-Marie-Tooth Disease, Demyelinating, Type 1d

Genetic tests related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1d:

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease, Demyelinating, Type 1d 30 EGR2

Anatomical Context for Charcot-Marie-Tooth Disease, Demyelinating, Type 1d

Publications for Charcot-Marie-Tooth Disease, Demyelinating, Type 1d

Articles related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1d:

# Title Authors Year
1
Adult onset Charcot-Marie-Tooth disease type 1D with an Arg381Cys mutation of EGR2. ( 20513111 )
2010

Variations for Charcot-Marie-Tooth Disease, Demyelinating, Type 1d

UniProtKB/Swiss-Prot genetic disease variations for Charcot-Marie-Tooth Disease, Demyelinating, Type 1d:

76
# Symbol AA change Variation ID SNP ID
1 EGR2 p.Asp355Val VAR_007736
2 EGR2 p.Arg409Trp VAR_007738 rs104894159
3 EGR2 p.Arg359Trp VAR_009874 rs104894161
4 EGR2 p.Arg381His VAR_009875 rs281865137
5 EGR2 p.Arg381Cys VAR_029958
6 EGR2 p.Asp383Tyr VAR_029959 rs104894160

ClinVar genetic disease variations for Charcot-Marie-Tooth Disease, Demyelinating, Type 1d:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 EGR2 NM_000399.4(EGR2): c.1225C> T (p.Arg409Trp) single nucleotide variant Pathogenic rs104894159 GRCh37 Chromosome 10, 64573173: 64573173
2 EGR2 NM_000399.4(EGR2): c.1225C> T (p.Arg409Trp) single nucleotide variant Pathogenic rs104894159 GRCh38 Chromosome 10, 62813413: 62813413
3 EGR2 NM_000399.4(EGR2): c.1075C> T (p.Arg359Trp) single nucleotide variant Pathogenic rs104894161 GRCh37 Chromosome 10, 64573323: 64573323
4 EGR2 NM_000399.4(EGR2): c.1075C> T (p.Arg359Trp) single nucleotide variant Pathogenic rs104894161 GRCh38 Chromosome 10, 62813563: 62813563
5 EGR2 NM_000399.4(EGR2): c.1076G> A (p.Arg359Gln) single nucleotide variant Pathogenic rs281865136 GRCh37 Chromosome 10, 64573322: 64573322
6 EGR2 NM_000399.4(EGR2): c.1076G> A (p.Arg359Gln) single nucleotide variant Pathogenic rs281865136 GRCh38 Chromosome 10, 62813562: 62813562
7 EGR2 NM_000399.4(EGR2): c.1142G> A (p.Arg381His) single nucleotide variant Pathogenic rs281865137 GRCh37 Chromosome 10, 64573256: 64573256
8 EGR2 NM_000399.4(EGR2): c.1142G> A (p.Arg381His) single nucleotide variant Pathogenic rs281865137 GRCh38 Chromosome 10, 62813496: 62813496
9 EGR2 NM_000399.4(EGR2): c.1160C> A (p.Thr387Asn) single nucleotide variant Pathogenic rs281865139 GRCh37 Chromosome 10, 64573238: 64573238
10 EGR2 NM_000399.4(EGR2): c.1160C> A (p.Thr387Asn) single nucleotide variant Pathogenic rs281865139 GRCh38 Chromosome 10, 62813478: 62813478
11 EGR2 NM_001136178.1(EGR2): c.1084C> T (p.Arg362Ter) single nucleotide variant Uncertain significance rs1554853028 GRCh37 Chromosome 10, 64573314: 64573314
12 EGR2 NM_001136178.1(EGR2): c.1084C> T (p.Arg362Ter) single nucleotide variant Uncertain significance rs1554853028 GRCh38 Chromosome 10, 62813554: 62813554

Expression for Charcot-Marie-Tooth Disease, Demyelinating, Type 1d

Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease, Demyelinating, Type 1d.

Pathways for Charcot-Marie-Tooth Disease, Demyelinating, Type 1d

Pathways related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1d 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, Demyelinating, Type 1d

Biological processes related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1d according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peripheral nervous system development GO:0007422 9.16 EGR2 PMP22
2 myelin assembly GO:0032288 8.96 MTMR2 PMP22
3 myelination GO:0042552 8.8 EGR2 MPZ PMP22

Sources for Charcot-Marie-Tooth Disease, Demyelinating, Type 1d

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
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
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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