MCID: CHR653
MIFTS: 36

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

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases, Fetal 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 57 53 29 6
Charcot-Marie-Tooth Disease Type 1d 12 53 59 15
Cmt1d 57 12 59 75
Hereditary Motor and Sensory Neuropathy 1d 57 12 53
Charcot-Marie-Tooth Disease, Type 1d 57 13 73
Hmsn Id 57 12 75
Hmsn1d 57 12 75
Charcot-Marie-Tooth Neuropathy Type 1d 12 75
Charcot-Marie-Tooth Disease Demyelinating Type 1d 75
Hereditary Motor and Sensory Neuropathy Id 75
Charcot-Marie-Tooth Neuropathy, Type 1d 57
Charcot-Marie-Tooth Disease, Type Id 40
Charcot Marie Tooth Disease Type 1d 53
Charcot-Marie-Tooth Disease 1d 75
Hmsn 1d 53
Cmt 1d 53

Characteristics:

Orphanet epidemiological data:

59
charcot-marie-tooth disease type 1d
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood,Infancy; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
charcot-marie-tooth disease, demyelinating, type 1d:
Inheritance autosomal dominant inheritance heterogeneous
Onset and clinical course juvenile onset variable expressivity


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 607678
Disease Ontology 12 DOID:0110150
ICD10 33 G60.0
Orphanet 59 ORPHA101084
MESH via Orphanet 45 C537985
ICD10 via Orphanet 34 G60.0
UMLS via Orphanet 74 C1843247
MedGen 42 C1843247
UMLS 73 C1843247

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

UniProtKB/Swiss-Prot : 75 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 distal muscle weakness and steppage gait

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 : 57 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

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 28.9 EGR2 GJB1 KIF1B MPZ MTMR2 PMP22
2 tooth disease 27.5 EGR2 GJB1 KIF1B MPZ MTMR2 NDRG1
3 charcot-marie-tooth disease 26.7 EGR2 GJB1 KIF1B MPZ MTMR2 NDRG1
4 charcot-marie-tooth disease, axonal, type 2i 10.5 KIF1B MPZ
5 charcot-marie-tooth disease, axonal, type 2j 10.5 KIF1B MPZ
6 charcot-marie-tooth disease, axonal, type 2q 10.5 EGR2 MPZ
7 cauda equina syndrome 10.5 EGR2 PMP22
8 hereditary neuropathy with liability to pressure palsy 10.5 MPZ PMP22
9 congenital hypomyelination neuropathy 10.5 MPZ PMP22
10 foot drop 10.4 MPZ PMP22
11 roussy-levy hereditary areflexic dystasia 10.4 MPZ PMP22
12 charcot-marie-tooth disease, axonal, type 2l 10.3 KIF1B MPZ
13 chronic inflammatory demyelinating polyradiculoneuropathy 10.3 MPZ PMP22
14 neuropathy, hereditary motor and sensory, russe type 10.3 EGR2 NDRG1
15 charcot-marie-tooth disease, x-linked recessive, 2 10.2 GJB1 SULT2B1
16 charcot-marie-tooth disease, demyelinating, type 1c 10.2 KIF1B MPZ PMP22
17 polyradiculoneuropathy 10.2 MPZ PMP22
18 charcot-marie-tooth disease, x-linked recessive, 3 10.1 GJB1 SULT2B1
19 pelizaeus-merzbacher disease 10.1 MPZ PMP22
20 charcot-marie-tooth disease, x-linked dominant, 1 10.0 GJB1 MPZ
21 guillain-barre syndrome 10.0 MPZ PMP22
22 amyotrophic neuralgia 9.8 GJB1 KIF1B PMP22
23 brachial plexus neuropathy 9.8 GJB1 KIF1B PMP22
24 charcot-marie-tooth disease, demyelinating, type 1f 9.8 GJB1 MPZ PMP22
25 neuritis 9.7 MPZ PMP22
26 charcot-marie-tooth disease, axonal, type 2f 9.5 GJB1 KCNH6 KIF1B MPZ
27 charcot-marie-tooth neuropathy type 1 9.5 EGR2 GJB1 MPZ PMP22
28 neuropathy, hereditary, with liability to pressure palsies 9.2 EGR2 GJB1 KIF1B MPZ PMP22
29 charcot-marie-tooth disease, type 4d 9.0 GJB1 MYCN NDRG1
30 peripheral nervous system disease 9.0 EGR2 GJB1 MPZ MTMR2 PMP22
31 neuropathy 8.9 EGR2 GJB1 MPZ PMP22 TFG
32 charcot-marie-tooth disease, axonal, type 2b 8.8 EGR2 GJB1 KIF1B MPZ PMP22 SULT2B1
33 hereditary motor and sensory neuropathy, type iic 8.7 GJB1 KIF1B MPZ NDRG1 TFG
34 hereditary neuropathies 8.7 GJB1 MPZ MTMR2 NDRG1 PMP22
35 sensory peripheral neuropathy 8.7 GJB1 MPZ MTMR2 NDRG1 PMP22
36 charcot-marie-tooth disease, demyelinating, type 1a 8.7 EGR2 GJB1 KIF1B MPZ MTMR2 PMP22
37 trehalase deficiency 8.5 GJB1 MPZ MYCN PMP22
38 charcot-marie-tooth disease, demyelinating, type 1b 8.3 EGR2 GJB1 KIF1B MPZ MTMR2 PMP22
39 hypertrophic neuropathy of dejerine-sottas 8.0 EGR2 GJB1 KCNH6 KIF1B MPZ MTMR2
40 motor peripheral neuropathy 7.8 GJB1 KIF1B MPZ MTMR2 NDRG1 PMP22
41 charcot-marie-tooth disease, axonal, type 2e 6.2 ADI1 EGR2 GJB1 KCNH6 KIF1B MPZ
42 neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive 6.2 EGR2 GJB1 KIF1B MPZ MTMR2 MYCN

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 distal muscle weakness 32 HP:0002460
2 steppage gait 32 HP:0003376
3 decreased motor nerve conduction velocity 32 HP:0003431
4 upper limb muscle weakness 32 HP:0003484
5 distal amyotrophy 32 HP:0003693
6 foot dorsiflexor weakness 32 HP:0009027

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

26 (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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.86 MYCN NDRG1 PMP22 EGR2 GJB1 KIF1B
2 homeostasis/metabolism MP:0005376 9.76 EGR2 GJB1 KIF1B MPZ MYCN NDRG1
3 limbs/digits/tail MP:0005371 9.35 EGR2 KIF1B MTMR2 MYCN PMP22
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 29 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:

75
# 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
# 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

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 8.96 EGR2 PMP22
2 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 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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