CMT1D
MCID: CHR653
MIFTS: 39

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 57 53 29 6
Charcot-Marie-Tooth Disease Type 1d 12 53 59 15
Cmt1d 57 12 59 74
Hereditary Motor and Sensory Neuropathy 1d 57 12 53
Charcot-Marie-Tooth Disease, Type 1d 57 13 72
Hmsn Id 57 12 74
Hmsn1d 57 12 74
Charcot-Marie-Tooth Neuropathy Type 1d 12 74
Charcot-Marie-Tooth Disease Demyelinating Type 1d 74
Hereditary Motor and Sensory Neuropathy Id 74
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 74
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:
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:

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


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110150
ICD10 33 G60.0
MESH via Orphanet 45 C537985
ICD10 via Orphanet 34 G60.0
UMLS via Orphanet 73 C1843247
Orphanet 59 ORPHA101084
MedGen 42 C1843247
UMLS 72 C1843247

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

UniProtKB/Swiss-Prot : 74 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 : 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 1a family:

Charcot-Marie-Tooth Disease, Demyelinating, Type 1b 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 41)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease and deafness 30.5 SULT2B1 PMP22 MTMR2 MPZ KIF1B GJB1
2 tooth disease 29.0 PMP22 NDRG1 MTMR2 MPZ KIF1B GJB1
3 charcot-marie-tooth disease 28.5 TFG PMP22 NDRG1 MTMR2 MPZ KIF1B
4 charcot-marie-tooth disease, axonal, type 2j 10.5 MPZ KIF1B
5 charcot-marie-tooth disease, axonal, type 2q 10.5 MPZ EGR2
6 charcot-marie-tooth disease, axonal, type 2i 10.5 MPZ KIF1B
7 charcot-marie-tooth hereditary neuropathy 10.4 PMP22 MPZ
8 cauda equina syndrome 10.4 PMP22 EGR2
9 foot drop 10.4 PMP22 MPZ
10 roussy-levy hereditary areflexic dystasia 10.4 PMP22 MPZ
11 brachial plexus neuropathy 10.4 PMP22 KIF1B
12 charcot-marie-tooth disease, x-linked recessive, 2 10.4 SULT2B1 GJB1
13 neuropathy, hereditary motor and sensory, russe type 10.3 NDRG1 EGR2
14 charcot-marie-tooth disease, axonal, type 2l 10.3 MPZ KIF1B
15 chronic inflammatory demyelinating polyradiculoneuropathy 10.3 PMP22 MPZ
16 charcot-marie-tooth disease, x-linked recessive, 3 10.3 SULT2B1 GJB1
17 polyradiculoneuropathy 10.3 PMP22 MPZ
18 hereditary sensory and autonomic neuropathy type 1 10.2 SULT2B1 MYCN
19 pelizaeus-merzbacher disease 10.1 PMP22 MPZ
20 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 10.1 MPZ GJB1 EGR2
21 autoimmune peripheral neuropathy 10.1 MPZ GJB1
22 amyotrophic neuralgia 10.1 PMP22 KIF1B GJB1
23 charcot-marie-tooth disease, demyelinating, type 1f 10.0 PMP22 MPZ GJB1
24 neuritis 10.0 PMP22 MPZ
25 charcot-marie-tooth disease, x-linked dominant, 1 10.0 PMP22 MPZ GJB1
26 charcot-marie-tooth disease, axonal, type 2f 9.9 MPZ KIF1B KCNH6 GJB1
27 guillain-barre syndrome 9.8 PMP22 MPZ
28 charcot-marie-tooth disease, axonal, type 2d 9.8 PMP22 MPZ KIF1B GJB1
29 charcot-marie-tooth disease, type 4d 9.8 NDRG1 MYCN GJB1
30 charcot-marie-tooth disease, demyelinating, type 1c 9.6 PMP22 MPZ KIF1B GJB1 EGR2
31 neuropathy 9.5 TFG PMP22 MPZ GJB1 EGR2
32 hereditary motor and sensory neuropathy, type iic 9.4 TFG NDRG1 MPZ KIF1B GJB1
33 charcot-marie-tooth disease, axonal, type 2b 9.3 SULT2B1 PMP22 MPZ KIF1B GJB1 EGR2
34 charcot-marie-tooth disease, demyelinating, type 1a 9.3 PMP22 MTMR2 MPZ KIF1B GJB1 EGR2
35 neuropathy, hereditary, with liability to pressure palsies 9.3 PMP22 MTMR2 MPZ KIF1B GJB1 EGR2
36 peripheral nervous system disease 9.3 PMP22 MTMR2 MPZ KIF1B GJB1 EGR2
37 sensory peripheral neuropathy 9.2 PMP22 NDRG1 MTMR2 MPZ GJB1 EGR2
38 charcot-marie-tooth disease, demyelinating, type 1b 9.1 SULT2B1 PMP22 MTMR2 MPZ KIF1B GJB1
39 hypertrophic neuropathy of dejerine-sottas 9.0 SULT2B1 PMP22 MTMR2 MPZ KIF1B GJB1
40 motor peripheral neuropathy 8.8 TFG PMP22 NDRG1 MTMR2 MPZ KIF1B
41 charcot-marie-tooth disease, axonal, type 2e 7.7 TFG SULT2B1 PMP22 MTMR2 MPZ KIF1B

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:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 peripheral neuropathy 32 HP:0009830
2 decreased motor nerve conduction velocity 32 HP:0003431
3 distal amyotrophy 32 HP:0003693
4 foot dorsiflexor weakness 32 HP:0009027
5 upper limb muscle weakness 32 HP:0003484
6 distal muscle weakness 32 HP:0002460
7 steppage gait 32 HP:0003376

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

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 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 9.92 EGR2 GJB1 KIF1B MPZ MTMR2 MYCN
2 homeostasis/metabolism MP:0005376 9.91 EGR2 GJB1 KIF1B MPZ MYCN NDRG1
3 limbs/digits/tail MP:0005371 9.63 EGR2 KIF1B MTMR2 MYCN PMP22 SPON1
4 mortality/aging MP:0010768 9.61 EGR2 GJB1 KIF1B MPZ MTMR2 MYCN
5 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:

(show all 11)
# Title Authors PMID Year
1
Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C. 8 71
12525712 2003
2
Charcot-Marie-Tooth Neuropathy Type 1 38 71
20301384 1998
3
Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family. 71
15947997 2005
4
EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy. 71
11523566 2001
5
Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies. 71
10369870 1999
6
Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview 71
20301532 1998
7
Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies. 8
9537424 1998
8
A novel family with axonal Charcot-Marie-Tooth disease caused by a mutation in the EGR2 gene. 38
30843326 2019
9
Development and validation of the Charcot-Marie-Tooth Disease Infant Scale. 38
30476010 2018
10
Genetic evaluation of inherited motor/sensory neuropathy. 38
16106622 2004
11
A novel type of hereditary motor and sensory neuropathy characterized by a mild phenotype. 38
10520946 1999

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

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 EGR2 NM_000399.5(EGR2): c.1225C> T (p.Arg409Trp) single nucleotide variant Pathogenic rs104894159 10:64573173-64573173 10:62813413-62813413
2 EGR2 NM_000399.5(EGR2): c.1075C> T (p.Arg359Trp) single nucleotide variant Pathogenic rs104894161 10:64573323-64573323 10:62813563-62813563
3 EGR2 NM_000399.5(EGR2): c.1142G> A (p.Arg381His) single nucleotide variant Pathogenic rs281865137 10:64573256-64573256 10:62813496-62813496
4 EGR2 NM_000399.5(EGR2): c.1160C> A (p.Thr387Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs281865139 10:64573238-64573238 10:62813478-62813478
5 EGR2 NM_000399.5(EGR2): c.1076G> A (p.Arg359Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs281865136 10:64573322-64573322 10:62813562-62813562
6 EGR2 NM_000399.5(EGR2): c.380C> T (p.Pro127Leu) single nucleotide variant Uncertain significance 10:64574018-64574018 10:62814258-62814258
7 EGR2 NM_000399.5(EGR2): c.1084C> T (p.Arg362Ter) single nucleotide variant Uncertain significance rs1554853028 10:64573314-64573314 10:62813554-62813554

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

74
# 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

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 PMP22 MPZ GJB1

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 PMP22 EGR2
2 myelin assembly GO:0032288 8.96 PMP22 MTMR2
3 myelination GO:0042552 8.8 PMP22 MPZ EGR2

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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