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 56 52 29 6
Charcot-Marie-Tooth Disease Type 1d 12 52 58 15
Cmt1d 56 12 58 73
Hereditary Motor and Sensory Neuropathy 1d 56 12 52
Charcot-Marie-Tooth Disease, Type 1d 56 13 71
Hmsn Id 56 12 73
Hmsn1d 56 12 73
Charcot-Marie-Tooth Neuropathy Type 1d 12 73
Charcot-Marie-Tooth Disease Demyelinating Type 1d 73
Hereditary Motor and Sensory Neuropathy Id 73
Charcot-Marie-Tooth Neuropathy, Type 1d 56
Charcot-Marie-Tooth Disease, Type Id 39
Charcot Marie Tooth Disease Type 1d 52
Charcot-Marie-Tooth Disease 1d 73
Hmsn 1d 52
Cmt 1d 52

Characteristics:

Orphanet epidemiological data:

58
charcot-marie-tooth disease type 1d
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood,Infancy; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
charcot-marie-tooth disease, demyelinating, type 1d:
Inheritance autosomal dominant inheritance heterogeneous
Onset and clinical course variable expressivity juvenile onset


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110150
OMIM 56 607678
OMIM Phenotypic Series 56 PS118220
ICD10 32 G60.0
MESH via Orphanet 44 C537985
ICD10 via Orphanet 33 G60.0
UMLS via Orphanet 72 C1843247
Orphanet 58 ORPHA101084
MedGen 41 C1843247
UMLS 71 C1843247

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

UniProtKB/Swiss-Prot : 73 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 : 56 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 top 50) (show all 73)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease and deafness 28.1 SULT2B1 PRX PMP22 MTMR2 MPZ LITAF
2 tooth disease 27.4 PRX PMP22 MTMR2 MPZ LITAF KIF1B
3 charcot-marie-tooth disease 26.9 SULT2B1 PRX PMP22 MTMR2 MPZ LITAF
4 charcot-marie-tooth disease x-linked recessive 4 10.3 MPZ GJB1
5 foot drop 10.3 PMP22 MPZ
6 autoimmune peripheral neuropathy 10.3 MPZ GJB1
7 roussy-levy hereditary areflexic dystasia 10.2 PMP22 MPZ
8 amyotrophic neuralgia 10.2 PMP22 MPZ
9 charcot-marie-tooth disease, dominant intermediate d 10.2 MPZ KIF1B
10 chronic polyneuropathy 10.2 PMP22 GJB1
11 autoimmune neuropathy 10.2 PMP22 MPZ
12 brachial plexus neuropathy 10.2 PMP22 MPZ
13 charcot-marie-tooth disease, axonal, type 2cc 10.2 MPZ GJB1
14 autoimmune disease of peripheral nervous system 10.2 PMP22 MPZ
15 mononeuropathy 10.1 PMP22 MPZ
16 nerve compression syndrome 10.1 PMP22 MPZ
17 chronic inflammatory demyelinating polyradiculoneuropathy 10.1 PMP22 MPZ
18 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 10.1 MPZ GJB1 EGR2
19 charcot-marie-tooth disease, axonal, type 2q 10.1 MPZ GJB1 EGR2
20 polyradiculoneuropathy 10.1 PMP22 MPZ
21 waardenburg syndrome, type 4a 10.1 MPZ GJB1
22 guillain-barre syndrome 10.0 PMP22 MPZ
23 argyll robertson pupil 9.9 MPZ GDAP1
24 pupil disease 9.9 MPZ GDAP1
25 neuropathy, hereditary motor and sensory, russe type 9.9 GDAP1 EGR2
26 charcot-marie-tooth disease, dominant intermediate c 9.8 MPZ GDAP1
27 charcot-marie-tooth disease, axonal, type 2n 9.8 KIF1B GDAP1
28 carpal tunnel syndrome 9.8 PMP22 MPZ
29 charcot-marie-tooth disease, axonal, type 2p 9.7 LITAF GDAP1
30 abnormal pupillary function 9.7 MPZ GDAP1 EGR2
31 charcot-marie-tooth disease, axonal, type 2a1 9.6 MPZ KIF1B GDAP1
32 charcot-marie-tooth disease, axonal, type 2l 9.6 MPZ KIF1B GDAP1
33 charcot-marie-tooth disease, axonal, type 2b2 9.6 MPZ KIF1B GDAP1
34 charcot-marie-tooth disease, type 4b3 9.6 MTMR2 GDAP1
35 charcot-marie-tooth disease, demyelinating, type 1f 9.5 MTMR2 MPZ LITAF GJB1
36 charcot-marie-tooth disease, dominant intermediate e 9.5 MTMR2 MPZ GDAP1
37 charcot-marie-tooth disease, dominant intermediate a 9.5 PRX MPZ GJB1 GDAP1
38 hereditary sensory and autonomic neuropathy type 1 9.4 LITAF GDAP1
39 charcot-marie-tooth disease, x-linked recessive, 2 9.4 SULT2B1 MPZ LITAF GJB1 EGR2
40 hereditary motor and sensory neuropathy, type iic 9.4 MPZ KIF1B GJB1 GDAP1
41 charcot-marie-tooth disease, axonal, type 2d 9.4 MPZ KIF1B GJB1 GDAP1
42 hereditary neuropathies 9.3 PRX PMP22 MTMR2 MPZ GJB1
43 motor peripheral neuropathy 9.3 PMP22 LITAF GJB1 GDAP1
44 charcot-marie-tooth disease, type 4h 9.2 PRX MTMR2 MPZ GDAP1
45 charcot-marie-tooth disease, type 4j 9.1 PRX MTMR2 LITAF GDAP1
46 charcot-marie-tooth disease type 2a2a 9.1 MPZ LITAF KIF1B GJB1 GDAP1
47 charcot-marie-tooth disease, axonal, type 2j 9.0 MTMR2 MPZ KIF1B GDAP1 EGR2
48 charcot-marie-tooth disease, axonal, type 2f 8.9 MTMR2 MPZ KIF1B GJB1 GDAP1
49 charcot-marie-tooth disease, type 4b1 8.9 PRX MTMR2 MPZ LITAF GDAP1
50 charcot-marie-tooth disease intermediate type 8.9 MTMR2 MPZ LITAF GJB1 GDAP1

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:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 peripheral neuropathy 31 HP:0009830
2 decreased motor nerve conduction velocity 31 HP:0003431
3 distal amyotrophy 31 HP:0003693
4 foot dorsiflexor weakness 31 HP:0009027
5 upper limb muscle weakness 31 HP:0003484
6 distal muscle weakness 31 HP:0002460
7 steppage gait 31 HP:0003376

Symptoms via clinical synopsis from OMIM:

56
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

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.06 EGR2 GDAP1 GJB1 KIF1B MPZ MTMR2
2 growth/size/body region MP:0005378 9.97 EGR2 GJB1 KIF1B MPZ MTMR2 NAB1
3 homeostasis/metabolism MP:0005376 9.92 EGR2 GDAP1 GJB1 KIF1B LITAF MPZ
4 integument MP:0010771 9.73 EGR2 GDAP1 KIF1B MPZ NAB1 PRX
5 nervous system MP:0003631 9.65 EGR2 GDAP1 GJB1 KIF1B LITAF MPZ
6 limbs/digits/tail MP:0005371 9.55 EGR2 GDAP1 KIF1B MTMR2 PMP22
7 respiratory system MP:0005388 9.02 EGR2 KIF1B MPZ NAB1 PRX

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. 56 6
12525712 2003
2
Charcot-Marie-Tooth Neuropathy Type 1 61 6
20301384 1998
3
Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family. 6
15947997 2005
4
EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy. 6
11523566 2001
5
Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies. 6
10369870 1999
6
Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview 6
20301532 1998
7
Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies. 56
9537424 1998
8
A novel family with axonal Charcot-Marie-Tooth disease caused by a mutation in the EGR2 gene. 61
30843326 2019
9
Development and validation of the Charcot-Marie-Tooth Disease Infant Scale. 61
30476010 2018
10
Genetic evaluation of inherited motor/sensory neuropathy. 61
16106622 2004
11
A novel type of hereditary motor and sensory neuropathy characterized by a mild phenotype. 61
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 Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 EGR2 NM_000399.5(EGR2):c.1142G>A (p.Arg381His)SNV Pathogenic 41008 rs281865137 10:64573256-64573256 10:62813496-62813496
2 EGR2 NM_000399.5(EGR2):c.1225C>T (p.Arg409Trp)SNV Pathogenic 16750 rs104894159 10:64573173-64573173 10:62813413-62813413
3 EGR2 NM_000399.5(EGR2):c.1075C>T (p.Arg359Trp)SNV Pathogenic 16752 rs104894161 10:64573323-64573323 10:62813563-62813563
4 EGR2 NM_000399.5(EGR2):c.1076G>A (p.Arg359Gln)SNV Conflicting interpretations of pathogenicity 41007 rs281865136 10:64573322-64573322 10:62813562-62813562
5 EGR2 NM_000399.5(EGR2):c.1160C>A (p.Thr387Asn)SNV Conflicting interpretations of pathogenicity 41009 rs281865139 10:64573238-64573238 10:62813478-62813478
6 EGR2 NM_000399.5(EGR2):c.1084C>T (p.Arg362Ter)SNV Uncertain significance 548617 rs1554853028 10:64573314-64573314 10:62813554-62813554
7 EGR2 NM_000399.5(EGR2):c.380C>T (p.Pro127Leu)SNV Uncertain significance 638513 10:64574018-64574018 10:62814258-62814258
8 EGR2 NM_000399.5(EGR2):c.1352G>T (p.Gly451Val)SNV Benign/Likely benign 219918 rs138967272 10:64573046-64573046 10:62813286-62813286

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

73
# 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 9.26 PMP22 EGR2
2 Schwann cell differentiation GO:0014037 9.16 NAB1 EGR2
3 myelin assembly GO:0032288 8.96 PMP22 MTMR2
4 myelination GO:0042552 8.92 PMP22 NAB1 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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